#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PTPRA	5786	broad.mit.edu	37	20	2944950	2944950	+	Silent	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr20:2944950G>T	ENST00000216877.6	+	4	427	c.27G>T	c.(25-27)ctG>ctT	p.L9L	PTPRA_ENST00000380393.3_Silent_p.L9L|PTPRA_ENST00000318266.5_Silent_p.L9L|PTPRA_ENST00000358719.4_5'UTR|PTPRA_ENST00000356147.3_Silent_p.L9L|PTPRA_ENST00000399903.2_Silent_p.L9L|PTPRA_ENST00000425918.2_Silent_p.L20L	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	9					axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TTCTTGTTCTGCTCGGCAGTG	0.408																																						ENST00000216877.6																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(25-27)ctG>ctT		protein tyrosine phosphatase, receptor type, A							232.0	207.0	216.0					20																	2944950		2203	4300	6503	SO:0001819	synonymous_variant	5786				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr20:2944950G>T		CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.27G>T	20.37:g.2944950G>T						PTPRA_ENST00000318266.5_Silent_p.L9L|PTPRA_ENST00000356147.3_Silent_p.L9L|PTPRA_ENST00000425918.2_Silent_p.L20L|PTPRA_ENST00000399903.2_Silent_p.L9L|PTPRA_ENST00000380393.3_Silent_p.L9L|PTPRA_ENST00000358719.4_5'UTR	p.L9L	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN			4	427	+			9					A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Silent	SNP	ENST00000216877.6	37	c.27G>T	CCDS13039.1																																																																																				0.408	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3			45	174	1	0	9.84934e-19	1	1.40809e-18	45	174				
HOXD3	3232	broad.mit.edu	37	2	177034167	177034167	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:177034167G>T	ENST00000468418.3	+	3	2415	c.325G>T	c.(325-327)Ggt>Tgt	p.G109C	HOXD3_ENST00000249440.3_Missense_Mutation_p.G109C|HOXD3_ENST00000410016.1_Missense_Mutation_p.G109C			P31249	HXD3_HUMAN	homeobox D3	109					anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|embryonic skeletal system morphogenesis (GO:0048704)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		CCAGCCTCCTGGTCTGAACTC	0.642																																						ENST00000468418.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23						c.(325-327)Ggt>Tgt		homeobox D3							28.0	30.0	29.0					2																	177034167		2202	4300	6502	SO:0001583	missense	3232				anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177034167G>T		CCDS2270.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128652	ENSG00000128652		"""Homeoboxes / ANTP class : HOXL subclass"""	5137	protein-coding gene	gene with protein product		142980	"""homeo box D3"""	HOX4A, HOX4, HOX1D		1973146, 1358459	Standard	NM_006898		Approved		uc002ukt.1	P31249	OTTHUMG00000132517	ENST00000468418.3:c.325G>T	2.37:g.177034167G>T	ENSP00000424734:p.Gly109Cys					HOXD3_ENST00000410016.1_Missense_Mutation_p.G109C|HOXD3_ENST00000249440.3_Missense_Mutation_p.G109C	p.G109C			P31249	HXD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)	3	2415	+			109					Q99955|Q9BSC5	Missense_Mutation	SNP	ENST00000468418.3	37	c.325G>T	CCDS2270.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.586311	0.46110	.	.	ENSG00000128652	ENST00000468418;ENST00000410016;ENST00000249440	D;D;D	0.90620	-2.7;-2.7;-2.7	4.8	2.98	0.34508	.	0.000000	0.49305	D	0.000152	D	0.84790	0.5550	L	0.52573	1.65	0.09310	N	1	D	0.54047	0.964	B	0.43783	0.431	T	0.77308	-0.2636	9	.	.	.	.	1.9894	0.03443	0.1728:0.1592:0.5035:0.1646	.	109	P31249	HXD3_HUMAN	C	109	ENSP00000424734:G109C;ENSP00000386498:G109C;ENSP00000249440:G109C	.	G	+	1	0	HOXD3	176742413	0.946000	0.32159	0.913000	0.36048	0.976000	0.68499	2.462000	0.45049	0.724000	0.32296	0.555000	0.69702	GGT		0.642	HOXD3-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334246.4			20	43	1	0	4.63292e-17	1	6.47938e-17	20	43				
UHRF1BP1	54887	broad.mit.edu	37	6	34803170	34803170	+	Missense_Mutation	SNP	G	G	A	rs201149774	byFrequency	TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:34803170G>A	ENST00000192788.5	+	7	940	c.769G>A	c.(769-771)Gca>Aca	p.A257T	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.A257T	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	257							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GATGAAGTATGCAGAGTCACT	0.493																																						ENST00000192788.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(769-771)Gca>Aca		UHRF1 binding protein 1		G	THR/ALA	0,4134		0,0,2067	114.0	114.0	114.0		769	4.5	1.0	6		114	5,8437		0,5,4216	yes	missense	UHRF1BP1	NM_017754.3	58	0,5,6283	AA,AG,GG		0.0592,0.0,0.0398	possibly-damaging	257/1441	34803170	5,12571	2067	4221	6288	SO:0001583	missense	54887							g.chr6:34803170G>A	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.769G>A	6.37:g.34803170G>A	ENSP00000192788:p.Ala257Thr					UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.A257T	p.A257T	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN			7	940	+			257					Q9NXE0	Missense_Mutation	SNP	ENST00000192788.5	37	c.769G>A	CCDS43455.1	.	.	.	.	.	.	.	.	.	.	G	36	5.603908	0.96626	0.0	5.92E-4	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.10382	2.88;2.88	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.16385	0.0394	L	0.47716	1.5	0.80722	D	1	D	0.69078	0.997	P	0.60117	0.869	T	0.01149	-1.1436	10	0.62326	D	0.03	-7.4508	17.6704	0.88216	0.0:0.0:1.0:0.0	.	257	Q6BDS2	URFB1_HUMAN	T	257	ENSP00000192788:A257T;ENSP00000400628:A257T	ENSP00000192788:A257T	A	+	1	0	UHRF1BP1	34911148	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.744000	0.85034	2.480000	0.83734	0.650000	0.86243	GCA		0.493	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		27	75	0	0	0	1	0	27	75				
ME2	4200	broad.mit.edu	37	18	48447542	48447542	+	Nonsense_Mutation	SNP	T	T	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr18:48447542T>G	ENST00000321341.5	+	10	1313	c.1041T>G	c.(1039-1041)taT>taG	p.Y347*	ME2_ENST00000382927.3_Nonsense_Mutation_p.Y347*	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	347					malate metabolic process (GO:0006108)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)		TTGACAAGTATGGTTTATTAG	0.299																																						ENST00000321341.5																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23						c.(1039-1041)taT>taG		malic enzyme 2, NAD(+)-dependent, mitochondrial	NADH(DB00157)						54.0	57.0	56.0					18																	48447542		2203	4299	6502	SO:0001587	stop_gained	4200				malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding	g.chr18:48447542T>G	M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	1.1.1.40		6984	protein-coding gene	gene with protein product		154270				1993674	Standard	NM_002396		Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.1041T>G	18.37:g.48447542T>G	ENSP00000321070:p.Tyr347*					ME2_ENST00000382927.3_Nonsense_Mutation_p.Y347*	p.Y347*	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	10	1313	+		Colorectal(6;0.0273)|all_epithelial(6;0.118)	347					B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Nonsense_Mutation	SNP	ENST00000321341.5	37	c.1041T>G	CCDS11948.1	.	.	.	.	.	.	.	.	.	.	T	38	7.197443	0.98129	.	.	ENSG00000082212	ENST00000321341;ENST00000382927	.	.	.	5.92	4.73	0.59995	.	0.335182	0.35615	N	0.003084	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-3.6092	7.4385	0.27169	0.0:0.2297:0.0:0.7703	.	.	.	.	X	347	.	ENSP00000321070:Y347X	Y	+	3	2	ME2	46701540	0.017000	0.18338	1.000000	0.80357	0.998000	0.95712	-0.168000	0.09925	1.024000	0.39682	0.528000	0.53228	TAT		0.299	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255991.1	NM_002396		12	44	0	0	0	1	0	12	44				
FLRT2	23768	broad.mit.edu	37	14	86088738	86088738	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr14:86088738G>T	ENST00000330753.4	+	2	1647	c.880G>T	c.(880-882)Ggg>Tgg	p.G294W	FLRT2_ENST00000554746.1_Missense_Mutation_p.G294W	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	294					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GCTGACTCAAGGGGTTTTTGA	0.453																																						ENST00000330753.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73						c.(880-882)Ggg>Tgg		fibronectin leucine rich transmembrane protein 2							172.0	180.0	177.0					14																	86088738		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86088738G>T	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.880G>T	14.37:g.86088738G>T	ENSP00000332879:p.Gly294Trp					FLRT2_ENST00000554746.1_Missense_Mutation_p.G294W	p.G294W	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	1647	+			294					A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.880G>T	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.730679	0.69074	.	.	ENSG00000185070	ENST00000330753;ENST00000554746	T;T	0.60171	0.21;0.21	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.80048	0.4552	M	0.82923	2.615	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81265	-0.1011	10	0.87932	D	0	-16.6432	20.4238	0.99064	0.0:0.0:1.0:0.0	.	294	O43155	FLRT2_HUMAN	W	294	ENSP00000332879:G294W;ENSP00000451050:G294W	ENSP00000332879:G294W	G	+	1	0	FLRT2	85158491	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	9.867000	0.99620	2.828000	0.97474	0.655000	0.94253	GGG		0.453	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			61	248	1	0	3.76628e-20	1	5.4551e-20	61	248				
ZBTB16	7704	broad.mit.edu	37	11	114121088	114121088	+	Silent	SNP	C	C	A	rs532283203		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:114121088C>A	ENST00000335953.4	+	7	2213	c.1833C>A	c.(1831-1833)tcC>tcA	p.S611S	ZBTB16_ENST00000392996.2_Silent_p.S611S|ZBTB16_ENST00000535379.1_3'UTR|RP11-64D24.2_ENST00000544925.1_RNA	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	611					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		ACCAGCGCTCCCGGGACTACT	0.622																																						ENST00000335953.4																			0				central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6						c.(1831-1833)tcC>tcA		zinc finger and BTB domain containing 16							100.0	87.0	92.0					11																	114121088		2201	4296	6497	SO:0001819	synonymous_variant	7704				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding	g.chr11:114121088C>A	Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12930	protein-coding gene	gene with protein product	"""promyelocytic leukaemia zinc finger"""	176797	"""zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"""	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.1833C>A	11.37:g.114121088C>A						ZBTB16_ENST00000535379.1_3'UTR|ZBTB16_ENST00000392996.2_Silent_p.S611S|RP11-64D24.2_ENST00000544925.1_RNA	p.S611S	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)	7	2213	+		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)	611					Q8TAL4	Silent	SNP	ENST00000335953.4	37	c.1833C>A	CCDS8367.1																																																																																				0.622	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398940.1	NM_006006		28	96	1	0	5.45727e-16	1	7.44348e-16	28	96				
LOR	4014	broad.mit.edu	37	1	153233515	153233515	+	Silent	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:153233515C>T	ENST00000368742.3	+	2	147	c.90C>T	c.(88-90)ggC>ggT	p.G30G		NM_000427.2	NP_000418.2	P23490	LORI_HUMAN	loricrin	30					keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein binding, bridging (GO:0030674)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			lung(2)	2	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			gcggcagcggcggtggtggct	0.697																																						ENST00000368742.3																			0				lung(2)	2						c.(88-90)ggC>ggT		loricrin							6.0	8.0	8.0					1																	153233515		1962	3919	5881	SO:0001819	synonymous_variant	4014				keratinization|peptide cross-linking	cornified envelope|cytoplasm|insoluble fraction|nucleoplasm	protein binding, bridging|structural constituent of cytoskeleton	g.chr1:153233515C>T	M61120	CCDS30870.1	1q21	2008-02-05			ENSG00000203782	ENSG00000203782			6663	protein-coding gene	gene with protein product		152445				2007607, 1355480	Standard	NM_000427		Approved		uc001fbm.3	P23490	OTTHUMG00000013938	ENST00000368742.3:c.90C>T	1.37:g.153233515C>T							p.G30G	NM_000427.2	NP_000418.2	P23490	LORI_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	147	+	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		30					Q5T869|Q5XKF8	Silent	SNP	ENST00000368742.3	37	c.90C>T	CCDS30870.1																																																																																				0.697	LOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039107.1	NM_000427		3	31	0	0	0	1	0	3	31				
TMEM198	130612	broad.mit.edu	37	2	220409616	220409616	+	Splice_Site	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:220409616G>A	ENST00000344458.2	+	3	751		c.e3+1		RP11-256I23.1_ENST00000596829.1_RNA|TMEM198_ENST00000373883.3_Splice_Site|CHPF_ENST00000243776.6_5'Flank|CHPF_ENST00000373891.2_5'Flank|CHPF_ENST00000535926.1_5'Flank			Q66K66	TM198_HUMAN	transmembrane protein 198						multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TGCTTCTTCGGTGAGATCCCC	0.562																																						ENST00000344458.2																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16						c.e3+1		transmembrane protein 198							100.0	89.0	93.0					2																	220409616		2203	4300	6503	SO:0001630	splice_region_variant	130612					integral to membrane		g.chr2:220409616G>A	BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760			33704	protein-coding gene	gene with protein product							Standard	NM_001005209		Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.166+1G>A	2.37:g.220409616G>A						TMEM198_ENST00000373883.3_Splice_Site				Q66K66	TM198_HUMAN		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	3	751	+		Renal(207;0.0376)							Splice_Site	SNP	ENST00000344458.2	37		CCDS33385.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938202	0.73557	.	.	ENSG00000188760	ENST00000344458;ENST00000421791;ENST00000373883;ENST00000451952	.	.	.	3.56	3.56	0.40772	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0517	0.80769	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMEM198	220117860	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.556000	0.98127	2.305000	0.77605	0.555000	0.69702	.		0.562	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1	NM_001005209	Intron	8	57	0	0	0	1	0	8	57				
MGAT4C	25834	broad.mit.edu	37	12	86374156	86374156	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:86374156T>A	ENST00000604798.1	-	8	1552	c.348A>T	c.(346-348)ttA>ttT	p.L116F	MGAT4C_ENST00000548651.1_Missense_Mutation_p.L116F|MGAT4C_ENST00000393205.2_Missense_Mutation_p.L145F|MGAT4C_ENST00000552808.2_Missense_Mutation_p.L116F|MGAT4C_ENST00000549405.2_Missense_Mutation_p.L116F|MGAT4C_ENST00000332156.1_Missense_Mutation_p.L116F|MGAT4C_ENST00000552435.2_Intron			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	116					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TTGTCTCAAGTAAATAGTTTC	0.358																																						ENST00000604798.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(346-348)ttA>ttT		mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)							58.0	61.0	60.0					12																	86374156		2203	4300	6503	SO:0001583	missense	25834				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr12:86374156T>A		CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	30871	protein-coding gene	gene with protein product		607385	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"""			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.348A>T	12.37:g.86374156T>A	ENSP00000474896:p.Leu116Phe					MGAT4C_ENST00000393205.2_Missense_Mutation_p.L145F|MGAT4C_ENST00000552808.2_Missense_Mutation_p.L116F|MGAT4C_ENST00000549405.2_Missense_Mutation_p.L116F|MGAT4C_ENST00000332156.1_Missense_Mutation_p.L116F|MGAT4C_ENST00000548651.1_Missense_Mutation_p.L116F|MGAT4C_ENST00000552435.2_Intron	p.L116F			Q9UBM8	MGT4C_HUMAN			8	1552	-			116					B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	ENST00000604798.1	37	c.348A>T	CCDS9030.1	.	.	.	.	.	.	.	.	.	.	T	16.75	3.208985	0.58343	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225	D;D;D;D;D;D	0.90676	-2.71;-2.71;-2.71;-2.71;-2.71;-2.71	5.19	1.1	0.20463	.	0.077786	0.52532	D	0.000061	D	0.94512	0.8233	M	0.91459	3.21	0.44946	D	0.997966	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91367	0.5116	10	0.66056	D	0.02	-4.6585	3.6985	0.08374	0.0:0.2908:0.1966:0.5126	.	145;116	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	F	116;145;116;116;116;116;116	ENSP00000331664:L116F;ENSP00000376900:L145F;ENSP00000449022:L116F;ENSP00000446647:L116F;ENSP00000447253:L116F;ENSP00000449172:L116F	ENSP00000331664:L116F	L	-	3	2	MGAT4C	84898287	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	0.860000	0.27871	0.368000	0.24481	0.482000	0.46254	TTA		0.358	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244		22	64	0	0	0	1	0	22	64				
HSPA8	3312	broad.mit.edu	37	11	122930385	122930385	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:122930385T>C	ENST00000532636.1	-	5	1035	c.916A>G	c.(916-918)Aat>Gat	p.N306D	HSPA8_ENST00000526110.1_Missense_Mutation_p.N287D|HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000534319.1_Missense_Mutation_p.N70D|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000227378.3_Missense_Mutation_p.N306D|SNORD14E_ENST00000364009.1_RNA|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000453788.2_Missense_Mutation_p.N306D|HSPA8_ENST00000533540.1_Missense_Mutation_p.N160D|HSPA8_ENST00000534624.1_Missense_Mutation_p.N306D			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	306	Interaction with BAG1.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AGGTCAGCATTCAGTTCTTCA	0.493																																					Colon(21;486 594 5900 6733 14272)	ENST00000534624.1																			0				breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36						c.(916-918)Aat>Gat		heat shock 70kDa protein 8							49.0	50.0	50.0					11																	122930385		2202	4299	6501	SO:0001583	missense	3312				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	g.chr11:122930385T>C	Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.916A>G	11.37:g.122930385T>C	ENSP00000437125:p.Asn306Asp					HSPA8_ENST00000227378.3_Missense_Mutation_p.N306D|HSPA8_ENST00000453788.2_Missense_Mutation_p.N306D|HSPA8_ENST00000534319.1_Missense_Mutation_p.N70D|HSPA8_ENST00000533540.1_Missense_Mutation_p.N160D|HSPA8_ENST00000532636.1_Missense_Mutation_p.N306D|HSPA8_ENST00000526110.1_Missense_Mutation_p.N287D|HSPA8_ENST00000526862.1_5'UTR	p.N306D	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	5	1192	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	306			Interaction with BAG1.		Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	c.916A>G	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	T	19.80	3.894593	0.72639	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000534319;ENST00000526110;ENST00000528292	T;T;T;T;T;T;T;T	0.09723	2.95;2.95;2.95;2.95;2.95;2.95;2.95;2.95	4.65	4.65	0.58169	.	0.105410	0.64402	D	0.000011	T	0.46308	0.1386	H	0.98525	4.255	0.80722	D	1	D;P;P;D	0.63880	0.993;0.734;0.688;0.993	D;B;B;D	0.69479	0.964;0.219;0.139;0.964	T	0.65245	-0.6215	10	0.17832	T	0.49	-31.6216	14.4185	0.67168	0.0:0.0:0.0:1.0	.	306;306;306;306	Q53GZ6;E7ET08;P11142-2;P11142	.;.;.;HSP7C_HUMAN	D	306;160;306;306;306;70;287;246	ENSP00000437125:N306D;ENSP00000437189:N160D;ENSP00000432083:N306D;ENSP00000404372:N306D;ENSP00000227378:N306D;ENSP00000433316:N70D;ENSP00000433584:N287D;ENSP00000432884:N246D	ENSP00000227378:N306D	N	-	1	0	HSPA8	122435595	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.890000	0.87313	1.871000	0.54225	0.454000	0.30748	AAT		0.493	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			15	63	0	0	0	1	0	15	63				
VIPR2	7434	broad.mit.edu	37	7	158829530	158829530	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:158829530G>T	ENST00000262178.2	-	7	846	c.661C>A	c.(661-663)Ctg>Atg	p.L221M	VIPR2_ENST00000402066.1_Missense_Mutation_p.L362M|VIPR2_ENST00000377633.3_Missense_Mutation_p.L205M	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	221					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		CCCTCCACCAGCAGCCAGAAG	0.597																																					Pancreas(154;1876 1931 2329 17914 20079)	ENST00000262178.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22						c.(661-663)Ctg>Atg		vasoactive intestinal peptide receptor 2							84.0	71.0	76.0					7																	158829530		2203	4300	6503	SO:0001583	missense	7434				cell-cell signaling	integral to plasma membrane		g.chr7:158829530G>T	CA449700, X95097	CCDS5950.1	7q36.3	2012-08-10			ENSG00000106018	ENSG00000106018		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	12695	protein-coding gene	gene with protein product	"""VIP and PACAP receptor 2"""	601970				7811244	Standard	NM_003382		Approved	VPAC2, VPAC2R	uc003woh.3	P41587	OTTHUMG00000151446	ENST00000262178.2:c.661C>A	7.37:g.158829530G>T	ENSP00000262178:p.Leu221Met					VIPR2_ENST00000402066.1_Missense_Mutation_p.L362M|VIPR2_ENST00000377633.3_Missense_Mutation_p.L205M	p.L221M	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)	7	846	-	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	221					Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0	Missense_Mutation	SNP	ENST00000262178.2	37	c.661C>A	CCDS5950.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.140250	0.56936	.	.	ENSG00000106018	ENST00000262178;ENST00000377633;ENST00000402066	T;T;T	0.39406	1.08;1.08;1.08	4.58	2.42	0.29668	GPCR, family 2-like (1);	0.000000	0.41097	D	0.000944	T	0.68714	0.3031	H	0.95745	3.715	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69647	-0.5089	9	.	.	.	.	5.7617	0.18203	0.4175:0.0:0.5825:0.0	.	221	P41587	VIPR2_HUMAN	M	221;205;362	ENSP00000262178:L221M;ENSP00000366860:L205M;ENSP00000384497:L362M	.	L	-	1	2	VIPR2	158522291	0.991000	0.36638	0.991000	0.47740	0.819000	0.46315	1.883000	0.39658	0.816000	0.34421	0.561000	0.74099	CTG		0.597	VIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322675.1	NM_003382		14	57	1	0	4.36969e-10	1	5.39744e-10	14	57				
TNN	63923	broad.mit.edu	37	1	175048699	175048699	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:175048699C>A	ENST00000239462.4	+	3	753	c.640C>A	c.(640-642)Cgc>Agc	p.R214S		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	214	EGF-like 2.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CGAGTGCGTGCGCGGCGTGTG	0.687																																						ENST00000239462.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(640-642)Cgc>Agc		tenascin N							16.0	13.0	14.0					1																	175048699		2179	4270	6449	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175048699C>A	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.640C>A	1.37:g.175048699C>A	ENSP00000239462:p.Arg214Ser						p.R214S	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	3	753	+		Breast(1374;0.000962)	214			EGF-like 2.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.640C>A	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	C	6.856	0.527235	0.13066	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.03152	4.03	4.7	1.33	0.21861	EGF, extracellular (1);	0.679744	0.15068	N	0.282356	T	0.01661	0.0053	N	0.03238	-0.38	0.09310	N	1	P;B	0.36712	0.566;0.066	B;B	0.32090	0.14;0.033	T	0.50303	-0.8844	10	0.37606	T	0.19	.	8.4321	0.32764	0.2148:0.4465:0.3387:0.0	.	214;214	B3KXB6;Q9UQP3	.;TENN_HUMAN	S	214	ENSP00000239462:R214S	ENSP00000239462:R214S	R	+	1	0	TNN	173315322	0.344000	0.24827	0.261000	0.24466	0.422000	0.31414	0.758000	0.26447	0.446000	0.26666	0.491000	0.48974	CGC		0.687	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		7	15	1	0	0.00198382	1	0.00206403	7	15				
GRIK2	2898	broad.mit.edu	37	6	102483440	102483440	+	Splice_Site	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:102483440G>T	ENST00000421544.1	+	14	2800	c.2310G>T	c.(2308-2310)atG>atT	p.M770I	GRIK2_ENST00000318991.6_Splice_Site_p.M770I|GRIK2_ENST00000413795.1_Splice_Site_p.M770I|GRIK2_ENST00000369138.1_Splice_Site_p.M770I|GRIK2_ENST00000369137.3_Splice_Site_p.M694I|GRIK2_ENST00000369134.4_Splice_Site_p.M721I	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	770					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|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)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	GCACTCCCATGGGTAGGTTAT	0.438																																						ENST00000369138.1																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.e14+1		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						84.0	86.0	85.0					6																	102483440		2202	4297	6499	SO:0001630	splice_region_variant	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102483440G>T		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.2311+1G>T	6.37:g.102483440G>T						GRIK2_ENST00000369134.4_Splice_Site_p.M721_splice|GRIK2_ENST00000318991.6_Splice_Site_p.M770_splice|GRIK2_ENST00000421544.1_Splice_Site_p.M770_splice|GRIK2_ENST00000369137.3_Splice_Site_p.M694_splice|GRIK2_ENST00000413795.1_Splice_Site_p.M770_splice	p.M770_splice	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	14	2800	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	770					A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Splice_Site	SNP	ENST00000421544.1	37	c.2311_splice	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.806224	0.31961	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000369134;ENST00000540076	T;T;T;T;T;T	0.10860	2.83;2.83;2.83;2.83;2.83;2.83	5.46	5.46	0.80206	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.02807	0.0084	N	0.12831	0.26	0.58432	D	0.999993	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.39231	-0.9624	10	0.10636	T	0.68	.	19.301	0.94144	0.0:0.0:1.0:0.0	.	770;770;770	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	I	770;770;770;694;770;721;545	ENSP00000397026:M770I;ENSP00000405596:M770I;ENSP00000358134:M770I;ENSP00000358133:M694I;ENSP00000313276:M770I;ENSP00000358130:M721I	ENSP00000313276:M770I	M	+	3	0	GRIK2	102590133	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.555000	0.86185	0.655000	0.94253	ATG		0.438	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1		Missense_Mutation	94	85	1	0	2.06477e-34	1	3.1753e-34	94	85				
COL11A1	1301	broad.mit.edu	37	1	103471417	103471417	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:103471417G>T	ENST00000370096.3	-	18	2134	c.1822C>A	c.(1822-1824)Ctg>Atg	p.L608M	COL11A1_ENST00000512756.1_Missense_Mutation_p.L492M|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000353414.4_Missense_Mutation_p.L569M|COL11A1_ENST00000358392.2_Missense_Mutation_p.L620M	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	608	Collagen-like 3.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCACCTGGCAGACCCGGAAGT	0.368																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(1858-1860)Ctg>Atg		collagen, type XI, alpha 1							92.0	99.0	97.0					1																	103471417		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103471417G>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1822C>A	1.37:g.103471417G>T	ENSP00000359114:p.Leu608Met					COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000512756.1_Missense_Mutation_p.L492M|COL11A1_ENST00000353414.4_Missense_Mutation_p.L569M|COL11A1_ENST00000370096.3_Missense_Mutation_p.L608M	p.L620M	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	18	2175	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	608			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.1858C>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160482	0.78226	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756	D;D;D;D	0.96300	-3.47;-3.47;-3.47;-3.97	5.73	3.82	0.43975	.	0.000000	0.64402	D	0.000002	D	0.95297	0.8474	L	0.38692	1.165	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.998;0.999	D	0.94867	0.8027	10	0.51188	T	0.08	.	11.6341	0.51194	0.1479:0.0:0.8521:0.0	.	492;569;620;608	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	M	608;620;569;492	ENSP00000359114:L608M;ENSP00000351163:L620M;ENSP00000302551:L569M;ENSP00000426533:L492M	ENSP00000302551:L569M	L	-	1	2	COL11A1	103244005	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.409000	0.59768	0.727000	0.32360	0.655000	0.94253	CTG		0.368	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		28	144	1	0	5.77227e-19	1	8.26752e-19	28	144				
SPTA1	6708	broad.mit.edu	37	1	158650415	158650415	+	Silent	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:158650415C>A	ENST00000368147.4	-	5	816	c.636G>T	c.(634-636)ggG>ggT	p.G212G		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	212					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAACAACTCTCCCTTCTTTAG	0.458																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(634-636)ggG>ggT		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							149.0	148.0	148.0					1																	158650415		1920	4133	6053	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158650415C>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.636G>T	1.37:g.158650415C>A						SPTA1_ENST00000368147.3_Silent_p.G212G	p.G212G	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			5	816	-	all_hematologic(112;0.0378)		212					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.636G>T	CCDS41423.1																																																																																				0.458	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		48	130	1	0	4.01344e-20	1	5.8022e-20	48	130				
MRPL46	26589	broad.mit.edu	37	15	89002885	89002885	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr15:89002885T>C	ENST00000312475.4	-	4	840	c.799A>G	c.(799-801)Aaa>Gaa	p.K267E	MRPL46_ENST00000559538.1_5'UTR	NM_022163.3	NP_071446.2	Q9H2W6	RM46_HUMAN	mitochondrial ribosomal protein L46	267						mitochondrion (GO:0005739)|ribosome (GO:0005840)	hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			GCCAGGTATTTTGGTTTCAAA	0.502																																						ENST00000312475.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						c.(799-801)Aaa>Gaa		mitochondrial ribosomal protein L46							117.0	99.0	105.0					15																	89002885		2201	4299	6500	SO:0001583	missense	26589					mitochondrion|ribosome	hydrolase activity	g.chr15:89002885T>C	AF210056	CCDS10341.1	15q25.3	2012-10-08	2001-12-10	2001-12-14	ENSG00000259494	ENSG00000259494		"""Mitochondrial ribosomal proteins / large subunits"""	1192	protein-coding gene	gene with protein product		611851	"""chromosome 15 open reading frame 4"""	C15orf4		11761714, 11551941	Standard	NM_022163		Approved	LIECG2, P2ECSL	uc002bmj.2	Q9H2W6	OTTHUMG00000148683	ENST00000312475.4:c.799A>G	15.37:g.89002885T>C	ENSP00000312311:p.Lys267Glu					MRPL46_ENST00000559538.1_5'UTR	p.K267E	NM_022163.3	NP_071446.2	Q9H2W6	RM46_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.188)		4	840	-	Lung NSC(78;0.203)		267					B2RD75|Q9HBU8	Missense_Mutation	SNP	ENST00000312475.4	37	c.799A>G	CCDS10341.1	.	.	.	.	.	.	.	.	.	.	T	8.532	0.871325	0.17322	.	.	ENSG00000173867	ENST00000312475	T	0.40225	1.04	5.98	0.91	0.19337	.	0.534882	0.20684	N	0.087585	T	0.15565	0.0375	N	0.10760	0.04	0.09310	N	1	B	0.12630	0.006	B	0.12837	0.008	T	0.31392	-0.9945	10	0.02654	T	1	.	5.7762	0.18281	0.0:0.2092:0.3567:0.434	.	267	Q9H2W6	RM46_HUMAN	E	267	ENSP00000312311:K267E	ENSP00000312311:K267E	K	-	1	0	MRPL46	86803889	0.244000	0.23889	0.005000	0.12908	0.647000	0.38526	1.801000	0.38843	-0.087000	0.12528	0.528000	0.53228	AAA		0.502	MRPL46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309073.1	NM_022163		24	81	0	0	0	1	0	24	81				
CKAP5	9793	broad.mit.edu	37	11	46800095	46800095	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:46800095T>C	ENST00000529230.1	-	21	2534	c.2488A>G	c.(2488-2490)Agt>Ggt	p.S830G	CKAP5_ENST00000354558.3_Missense_Mutation_p.S830G|CKAP5_ENST00000415402.1_Missense_Mutation_p.S830G|CKAP5_ENST00000312055.5_Missense_Mutation_p.S830G			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	830					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TCTGTACCACTTGTGCTATGC	0.443																																					Ovarian(4;85 273 2202 4844 13323)	ENST00000529230.1																			0				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(2488-2490)Agt>Ggt		cytoskeleton associated protein 5							222.0	189.0	200.0					11																	46800095		2201	4299	6500	SO:0001583	missense	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	g.chr11:46800095T>C		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.2488A>G	11.37:g.46800095T>C	ENSP00000432768:p.Ser830Gly					CKAP5_ENST00000415402.1_Missense_Mutation_p.S830G|CKAP5_ENST00000354558.3_Missense_Mutation_p.S830G|CKAP5_ENST00000312055.5_Missense_Mutation_p.S830G	p.S830G			Q14008	CKAP5_HUMAN			21	2534	-			830					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	ENST00000529230.1	37	c.2488A>G	CCDS31477.1	.	.	.	.	.	.	.	.	.	.	T	6.650	0.488434	0.12641	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558	T;T;T;T	0.47177	0.86;0.86;0.85;0.85	5.94	2.49	0.30216	Armadillo-type fold (1);	0.231325	0.51477	N	0.000093	T	0.15825	0.0381	N	0.01515	-0.825	0.09310	N	0.999998	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.21827	-1.0234	10	0.13470	T	0.59	-15.951	6.0869	0.19973	0.0:0.4042:0.0:0.5958	.	830;830;830	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	G	830	ENSP00000432768:S830G;ENSP00000395302:S830G;ENSP00000310227:S830G;ENSP00000346566:S830G	ENSP00000310227:S830G	S	-	1	0	CKAP5	46756671	0.001000	0.12720	0.997000	0.53966	0.985000	0.73830	1.247000	0.32815	1.087000	0.41251	0.528000	0.53228	AGT		0.443	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		46	128	0	0	0	1	0	46	128				
COL14A1	7373	broad.mit.edu	37	8	121357678	121357678	+	Silent	SNP	T	T	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:121357678T>G	ENST00000297848.3	+	45	5223	c.4953T>G	c.(4951-4953)acT>acG	p.T1651T	COL14A1_ENST00000247781.3_Silent_p.T1556T|COL14A1_ENST00000309791.4_Silent_p.T1651T	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CCATCCGGACTGTCCAAGGGC	0.602																																						ENST00000297848.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(4951-4953)acT>acG		collagen, type XIV, alpha 1							72.0	67.0	69.0					8																	121357678		2203	4300	6503	SO:0001819	synonymous_variant	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121357678T>G		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.4953T>G	8.37:g.121357678T>G						COL14A1_ENST00000309791.4_Silent_p.T1651T|COL14A1_ENST00000247781.3_Silent_p.T1556T	p.T1651T	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		45	5223	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		1651						Silent	SNP	ENST00000297848.3	37	c.4953T>G	CCDS34938.1																																																																																				0.602	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		28	117	0	0	0	1	0	28	117				
OR8B2	26595	broad.mit.edu	37	11	124253215	124253215	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:124253215C>T	ENST00000375013.2	-	1	43	c.25G>A	c.(25-27)Gtg>Atg	p.V9M		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	9						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(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AATTCAGTCACTAAGGAGTTG	0.363																																						ENST00000375013.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23						c.(25-27)Gtg>Atg		olfactory receptor, family 8, subfamily B, member 2							88.0	88.0	88.0					11																	124253215		2200	4296	6496	SO:0001583	missense	26595				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124253215C>T	AB065826	CCDS31708.1	11q24.1	2012-08-09			ENSG00000204293	ENSG00000204293		"""GPCR / Class A : Olfactory receptors"""	8471	protein-coding gene	gene with protein product							Standard	XM_005271500		Approved		uc010sai.2	Q96RD0	OTTHUMG00000165982	ENST00000375013.2:c.25G>A	11.37:g.124253215C>T	ENSP00000364152:p.Val9Met						p.V9M	NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	43	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	9					Q8NGH2	Missense_Mutation	SNP	ENST00000375013.2	37	c.25G>A	CCDS31708.1	.	.	.	.	.	.	.	.	.	.	c	14.20	2.464663	0.43736	.	.	ENSG00000204293	ENST00000375013	T	0.00327	8.09	4.15	4.15	0.48705	.	0.000000	0.52532	D	0.000062	T	0.00496	0.0016	M	0.84156	2.68	0.20489	N	0.999894	D	0.57257	0.979	P	0.52189	0.692	T	0.43097	-0.9412	10	0.66056	D	0.02	.	6.7057	0.23250	0.0:0.8352:0.0:0.1648	.	9	Q96RD0	OR8B2_HUMAN	M	9	ENSP00000364152:V9M	ENSP00000364152:V9M	V	-	1	0	OR8B2	123758425	0.000000	0.05858	0.013000	0.15412	0.022000	0.10575	0.761000	0.26489	2.334000	0.79466	0.456000	0.33151	GTG		0.363	OR8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387290.1	NM_001005468		26	113	0	0	0	1	0	26	113				
SH3BP5L	80851	broad.mit.edu	37	1	249107234	249107234	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:249107234C>G	ENST00000366472.5	-	6	1894	c.665G>C	c.(664-666)aGc>aCc	p.S222T	SH3BP5L_ENST00000475978.1_5'UTR|SH3BP5L_ENST00000411742.2_Missense_Mutation_p.S190T	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	222								p.S222N(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GTAGGGGCGGCTCTTGCCGAT	0.652																																						ENST00000366472.5																			1	Substitution - Missense(1)	p.S222N(1)	large_intestine(1)	endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(664-666)aGc>aCc		SH3-binding domain protein 5-like							59.0	59.0	59.0					1																	249107234		2203	4300	6503	SO:0001583	missense	80851							g.chr1:249107234C>G	AB051507	CCDS31126.1	1q44	2008-02-05			ENSG00000175137	ENSG00000175137			29360	protein-coding gene	gene with protein product							Standard	NM_030645		Approved	KIAA1720	uc001iew.1	Q7L8J4	OTTHUMG00000040389	ENST00000366472.5:c.665G>C	1.37:g.249107234C>G	ENSP00000355428:p.Ser222Thr					SH3BP5L_ENST00000411742.2_Missense_Mutation_p.S190T|SH3BP5L_ENST00000475978.1_5'UTR	p.S222T	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		6	1894	-	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	222					B4DQ94|Q96FI5|Q9BQH8|Q9C0E3	Missense_Mutation	SNP	ENST00000366472.5	37	c.665G>C	CCDS31126.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.834180	0.71373	.	.	ENSG00000175137	ENST00000366472;ENST00000411742	T	0.78003	-1.14	4.4	4.4	0.53042	.	0.116963	0.56097	D	0.000026	D	0.86163	0.5867	M	0.72576	2.205	0.53688	D	0.999971	D;D;D;D	0.71674	0.995;0.998;0.998;0.995	D;D;D;D	0.70227	0.949;0.968;0.968;0.949	D	0.87155	0.2211	10	0.52906	T	0.07	-28.269	14.8588	0.70362	0.0:1.0:0.0:0.0	.	190;115;222;80	B4DQ94;B4DSF1;Q7L8J4;Q96MW4	.;.;3BP5L_HUMAN;.	T	222;190	ENSP00000412203:S190T	ENSP00000355428:S222T	S	-	2	0	SH3BP5L	247073857	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.231000	0.65327	2.156000	0.67533	0.467000	0.42956	AGC		0.652	SH3BP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097140.1	NM_030645		18	73	0	0	0	1	0	18	73				
C11orf30	56946	broad.mit.edu	37	11	76239436	76239436	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:76239436A>G	ENST00000529032.1	+	13	2120	c.2120A>G	c.(2119-2121)cAg>cGg	p.Q707R	C11orf30_ENST00000533248.1_Missense_Mutation_p.Q721R|C11orf30_ENST00000525919.1_Missense_Mutation_p.Q708R|C11orf30_ENST00000525038.1_Missense_Mutation_p.Q722R|C11orf30_ENST00000524767.1_Missense_Mutation_p.Q722R|C11orf30_ENST00000334736.3_Missense_Mutation_p.Q707R|C11orf30_ENST00000343878.3_Missense_Mutation_p.Q707R|C11orf30_ENST00000524490.1_Missense_Mutation_p.Q623R			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	707					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						TCATCTATTCAGGAAGGAAAA	0.393																																						ENST00000529032.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						c.(2119-2121)cAg>cGg		chromosome 11 open reading frame 30							118.0	115.0	116.0					11																	76239436		2200	4292	6492	SO:0001583	missense	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76239436A>G	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.2120A>G	11.37:g.76239436A>G	ENSP00000432327:p.Gln707Arg					C11orf30_ENST00000524490.1_Missense_Mutation_p.Q623R|C11orf30_ENST00000525038.1_Missense_Mutation_p.Q722R|C11orf30_ENST00000343878.3_Missense_Mutation_p.Q707R|C11orf30_ENST00000533248.1_Missense_Mutation_p.Q721R|C11orf30_ENST00000524767.1_Missense_Mutation_p.Q722R|C11orf30_ENST00000334736.3_Missense_Mutation_p.Q707R|C11orf30_ENST00000525919.1_Missense_Mutation_p.Q708R	p.Q707R			Q7Z589	EMSY_HUMAN			13	2120	+			707					B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	c.2120A>G	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	A	15.74	2.921774	0.52653	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000343878;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032;ENST00000524451	.	.	.	5.78	5.78	0.91487	.	0.289408	0.38897	N	0.001539	T	0.24198	0.0586	N	0.19112	0.55	0.33550	D	0.596035	B;B;B;B;B;P;B	0.40083	0.308;0.308;0.308;0.232;0.165;0.702;0.165	B;B;B;B;B;B;B	0.33042	0.047;0.047;0.047;0.039;0.043;0.157;0.043	T	0.34153	-0.9840	9	0.15499	T	0.54	-3.7742	12.3673	0.55236	0.8206:0.1794:0.0:0.0	.	721;722;722;75;708;623;707	B7ZKT8;B7ZKU2;B7ZKU0;B3KWW8;Q17RM7;E9PMC9;Q7Z589	.;.;.;.;.;.;EMSY_HUMAN	R	623;707;707;510;722;721;708;722;707;100	.	ENSP00000334130:Q707R	Q	+	2	0	C11orf30	75917084	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.092000	0.64511	2.214000	0.71695	0.528000	0.53228	CAG		0.393	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		35	112	0	0	0	1	0	35	112				
WDR17	116966	broad.mit.edu	37	4	177071305	177071305	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:177071305G>T	ENST00000280190.4	+	16	2387	c.2231G>T	c.(2230-2232)tGg>tTg	p.W744L	WDR17_ENST00000393643.2_Missense_Mutation_p.W720L|WDR17_ENST00000507824.2_Missense_Mutation_p.W727L|WDR17_ENST00000508596.1_Missense_Mutation_p.W720L			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	744										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AAACTAAGATGGTTCTCAGAA	0.323																																						ENST00000393643.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92						c.(2158-2160)tGg>tTg		WD repeat domain 17							73.0	79.0	77.0					4																	177071305		2202	4298	6500	SO:0001583	missense	116966							g.chr4:177071305G>T	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.2231G>T	4.37:g.177071305G>T	ENSP00000280190:p.Trp744Leu					WDR17_ENST00000280190.4_Missense_Mutation_p.W744L|WDR17_ENST00000508596.1_Missense_Mutation_p.W720L|WDR17_ENST00000507824.2_Missense_Mutation_p.W727L	p.W720L	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	15	2411	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	744					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.2159G>T	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	G	4.922	0.171245	0.09391	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.55930	0.51;0.54;0.49	5.41	4.54	0.55810	.	0.073342	0.64402	N	0.000013	T	0.42471	0.1204	L	0.46157	1.445	0.53005	D	0.99996	B;B	0.14438	0.004;0.01	B;B	0.10450	0.005;0.005	T	0.36383	-0.9750	10	0.02654	T	1	-4.3131	15.0514	0.71872	0.0:0.0:0.8524:0.1476	.	720;744	E7EQX0;Q8IZU2	.;WDR17_HUMAN	L	720;720;744;727	ENSP00000422763:W720L;ENSP00000377258:W720L;ENSP00000280190:W744L	ENSP00000280190:W744L	W	+	2	0	WDR17	177308299	1.000000	0.71417	0.995000	0.50966	0.847000	0.48162	5.887000	0.69751	1.214000	0.43395	0.557000	0.71058	TGG		0.323	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			12	95	1	0	3.07112e-06	1	3.47131e-06	12	95				
TTC16	158248	broad.mit.edu	37	9	130493459	130493459	+	Silent	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:130493459C>A	ENST00000373289.3	+	14	2477	c.2397C>A	c.(2395-2397)ctC>ctA	p.L799L	TOR2A_ENST00000472723.1_5'Flank|TTC16_ENST00000489226.1_3'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	799										central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						GGGGACTGCTCCGAAGTTCCA	0.607																																						ENST00000373289.3																			0				central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						c.(2395-2397)ctC>ctA		tetratricopeptide repeat domain 16							32.0	33.0	32.0					9																	130493459		2202	4299	6501	SO:0001819	synonymous_variant	158248						binding	g.chr9:130493459C>A	AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094		"""Tetratricopeptide (TTC) repeat domain containing"""	26536	protein-coding gene	gene with protein product						12477932	Standard	NM_144965		Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	ENST00000373289.3:c.2397C>A	9.37:g.130493459C>A						TTC16_ENST00000489226.1_3'UTR	p.L799L	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN			14	2477	+			799					B4DYG4|B5ME24|Q5JU66|Q96M72	Silent	SNP	ENST00000373289.3	37	c.2397C>A	CCDS6875.1																																																																																				0.607	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054224.1	NM_144965		7	45	1	0	0.0293803	1	0.0297659	7	45				
TRAFD1	10906	broad.mit.edu	37	12	112578644	112578644	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:112578644C>T	ENST00000257604.5	+	5	876	c.259C>T	c.(259-261)Ctt>Ttt	p.L87F	TRAFD1_ENST00000412615.2_Missense_Mutation_p.L87F	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	87					negative regulation of innate immune response (GO:0045824)|response to cytokine (GO:0034097)		metal ion binding (GO:0046872)			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						CCCTTTGCGGCTTGCTGTCTG	0.458																																						ENST00000257604.5																			0				kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						c.(259-261)Ctt>Ttt		TRAF-type zinc finger domain containing 1							71.0	68.0	69.0					12																	112578644		2203	4300	6503	SO:0001583	missense	10906				negative regulation of innate immune response	intracellular	protein binding|zinc ion binding	g.chr12:112578644C>T	AB007447	CCDS9160.1	12q24.13	2013-01-25			ENSG00000135148	ENSG00000135148			24808	protein-coding gene	gene with protein product		613197				12477932	Standard	NM_006700		Approved	FLN29	uc001ttp.3	O14545	OTTHUMG00000169640	ENST00000257604.5:c.259C>T	12.37:g.112578644C>T	ENSP00000257604:p.Leu87Phe					TRAFD1_ENST00000412615.2_Missense_Mutation_p.L87F	p.L87F	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN			5	876	+			87					A8K5L6|B4DI89	Missense_Mutation	SNP	ENST00000257604.5	37	c.259C>T	CCDS9160.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.725727	0.69074	.	.	ENSG00000135148	ENST00000412615;ENST00000549358;ENST00000257604;ENST00000552896	T;T;T;T	0.03301	3.98;3.98;3.98;3.98	5.7	5.7	0.88788	.	0.543746	0.19385	N	0.115541	T	0.14570	0.0352	M	0.72894	2.215	0.41551	D	0.988574	D;D	0.76494	0.999;0.999	D;D	0.69654	0.952;0.965	T	0.00067	-1.2143	10	0.54805	T	0.06	-4.9702	10.0139	0.42003	0.0:0.8494:0.0:0.1506	.	87;87	F8VNX8;O14545	.;TRAD1_HUMAN	F	87	ENSP00000396526:L87F;ENSP00000449319:L87F;ENSP00000257604:L87F;ENSP00000450357:L87F	ENSP00000257604:L87F	L	+	1	0	TRAFD1	111063027	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.376000	0.44292	2.695000	0.91970	0.563000	0.77884	CTT		0.458	TRAFD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405214.1	NM_006700		29	101	0	0	0	1	0	29	101				
ANP32A	8125	broad.mit.edu	37	15	69080142	69080142	+	Missense_Mutation	SNP	G	G	C	rs370366169		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr15:69080142G>C	ENST00000465139.2	-	2	314	c.171C>G	c.(169-171)atC>atG	p.I57M	ANP32A_ENST00000483551.2_5'UTR|ANP32A_ENST00000560303.1_Missense_Mutation_p.I57M	NM_006305.3	NP_006296.1	P39687	AN32A_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member A	57					gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|nucleocytoplasmic transport (GO:0006913)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(2)	4						GTAAGTTTGCGATTGAGGTGA	0.458																																						ENST00000465139.2																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(169-171)atC>atG		acidic (leucine-rich) nuclear phosphoprotein 32 family, member A							135.0	136.0	136.0					15																	69080142		2199	4298	6497	SO:0001583	missense	8125				intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm	protein binding	g.chr15:69080142G>C	AF025684	CCDS45292.1	15q23	2008-05-14			ENSG00000140350	ENSG00000140350		"""ANP32 acidic nuclear phosphoproteins"""	13233	protein-coding gene	gene with protein product		600832		C15orf1		8970164, 9144194	Standard	NM_006305		Approved	LANP, PP32, I1PP2A, PHAPI, MAPM, mapmodulin	uc002arl.3	P39687	OTTHUMG00000154502	ENST00000465139.2:c.171C>G	15.37:g.69080142G>C	ENSP00000417864:p.Ile57Met					ANP32A_ENST00000560303.1_Missense_Mutation_p.I57M|ANP32A_ENST00000483551.2_5'UTR	p.I57M	NM_006305.3	NP_006296.1	P39687	AN32A_HUMAN			2	314	-			57					B2R6T4|Q53FK4|Q5J8L8|Q7M4N6	Missense_Mutation	SNP	ENST00000465139.2	37	c.171C>G	CCDS45292.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.486705	0.63962	.	.	ENSG00000140350	ENST00000358235;ENST00000465139	T	0.00408	7.54	5.6	0.66	0.17868	.	0.157911	0.56097	D	0.000026	T	0.00967	0.0032	M	0.85041	2.73	0.40590	D	0.981478	P	0.45634	0.863	P	0.60473	0.875	T	0.61831	-0.6982	10	0.87932	D	0	.	8.6412	0.33978	0.5948:0.0:0.4052:0.0	.	57	P39687	AN32A_HUMAN	M	57	ENSP00000417864:I57M	ENSP00000350970:I57M	I	-	3	3	ANP32A	66867196	0.488000	0.25996	1.000000	0.80357	0.985000	0.73830	-0.147000	0.10234	0.216000	0.20781	0.655000	0.94253	ATC		0.458	ANP32A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335525.2			35	114	0	0	0	1	0	35	114				
HMMR	3161	broad.mit.edu	37	5	162891728	162891728	+	Splice_Site	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:162891728G>A	ENST00000358715.3	+	3	181		c.e3-1		HMMR_ENST00000353866.3_Splice_Site|HMMR_ENST00000432118.2_Intron|HMMR_ENST00000393915.4_Splice_Site			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)						carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	TTTTTCCGCAGAATCTAAACA	0.333																																						ENST00000416990.2																			0				cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23						c.e3-1		hyaluronan-mediated motility receptor (RHAMM)							111.0	109.0	110.0					5																	162891728		2203	4300	6503	SO:0001630	splice_region_variant	3161					cell surface|cytoplasm	hyaluronic acid binding	g.chr5:162891728G>A	U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"""CD molecules"""	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.146-1G>A	5.37:g.162891728G>A						HMMR_ENST00000393915.4_Splice_Site|HMMR_ENST00000353866.3_Splice_Site|HMMR_ENST00000358715.3_Splice_Site|HMMR_ENST00000432118.2_Intron				O75330	HMMR_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	3	297	+	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)						A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Splice_Site	SNP	ENST00000358715.3	37		CCDS4362.1	.	.	.	.	.	.	.	.	.	.	G	8.913	0.959143	0.18507	.	.	ENSG00000072571	ENST00000353866;ENST00000434157;ENST00000393915;ENST00000426586;ENST00000358715	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8992	0.63792	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HMMR	162824306	1.000000	0.71417	0.992000	0.48379	0.023000	0.10783	4.198000	0.58419	2.432000	0.82394	0.563000	0.77884	.		0.333	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252752.1	NM_012484	Intron	21	59	0	0	0	1	0	21	59				
RXRB	6257	broad.mit.edu	37	6	33163691	33163691	+	Silent	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:33163691C>T	ENST00000374680.3	-	6	1327	c.1116G>A	c.(1114-1116)ctG>ctA	p.L372L	RXRB_ENST00000374685.4_Silent_p.L372L|RXRB_ENST00000544186.1_Silent_p.L182L	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	372	Ligand-binding. {ECO:0000250}.				cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|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 positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755)	GACCTGCCCGCAGCAATATGA	0.517																																						ENST00000374680.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15						c.(1114-1116)ctG>ctA		retinoid X receptor, beta	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)						101.0	85.0	91.0					6																	33163691		1511	2709	4220	SO:0001819	synonymous_variant	6257				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr6:33163691C>T	M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231		"""Nuclear hormone receptors"""	10478	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 2"""	180246				8257090	Standard	NM_021976		Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298	ENST00000374680.3:c.1116G>A	6.37:g.33163691C>T						RXRB_ENST00000544186.1_Silent_p.L182L|RXRB_ENST00000374685.4_Silent_p.L372L	p.L372L	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN			6	1327	-			372			Ligand-binding (By similarity).		P28703|Q59G65|Q5JP92|Q5STQ1	Silent	SNP	ENST00000374680.3	37	c.1116G>A	CCDS4768.1																																																																																				0.517	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076642.2	NM_021976		35	27	0	0	0	1	0	35	27				
NELL1	4745	broad.mit.edu	37	11	21250883	21250883	+	Missense_Mutation	SNP	G	G	T	rs544001655		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:21250883G>T	ENST00000357134.5	+	14	1584	c.1432G>T	c.(1432-1434)Gat>Tat	p.D478Y	NELL1_ENST00000298925.5_Missense_Mutation_p.D506Y|NELL1_ENST00000325319.5_Missense_Mutation_p.D421Y|NELL1_ENST00000532434.1_Missense_Mutation_p.D478Y	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	478	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AACAGAACACGATGAATGTGG	0.463																																						ENST00000298925.5																			0				NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						c.(1516-1518)Gat>Tat		NEL-like 1 (chicken)							76.0	64.0	68.0					11																	21250883		2203	4300	6503	SO:0001583	missense	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:21250883G>T	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.1432G>T	11.37:g.21250883G>T	ENSP00000349654:p.Asp478Tyr					NELL1_ENST00000357134.5_Missense_Mutation_p.D478Y|NELL1_ENST00000532434.1_Missense_Mutation_p.D478Y|NELL1_ENST00000325319.5_Missense_Mutation_p.D421Y	p.D506Y			Q92832	NELL1_HUMAN			15	1669	+			478			EGF-like 3.		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	c.1516G>T	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.461509	0.84317	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.21	5.81	5.81	0.92471	Epidermal growth factor-like, type 3 (1);	0.060043	0.64402	D	0.000005	D	0.96188	0.8757	H	0.97103	3.94	0.58432	D	0.999998	D;D;D;D	0.89917	0.991;0.999;1.0;0.985	D;P;D;P	0.77004	0.928;0.894;0.989;0.849	D	0.96991	0.9722	10	0.87932	D	0	-6.8466	20.0825	0.97783	0.0:0.0:1.0:0.0	.	421;506;478;478	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	Y	506;478;421;478	ENSP00000298925:D506Y;ENSP00000349654:D478Y;ENSP00000317837:D421Y;ENSP00000437170:D478Y	ENSP00000298925:D506Y	D	+	1	0	NELL1	21207459	1.000000	0.71417	0.995000	0.50966	0.954000	0.61252	8.062000	0.89475	2.746000	0.94184	0.655000	0.94253	GAT		0.463	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		11	54	1	0	0.000673444	1	0.00070447	11	54				
ADAMTS7	11173	broad.mit.edu	37	15	79089016	79089016	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr15:79089016C>A	ENST00000388820.4	-	4	945	c.735G>T	c.(733-735)gaG>gaT	p.E245D	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	245	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CTACCAGGGTCTCCACCCACT	0.607																																						ENST00000388820.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(733-735)gaG>gaT		ADAM metallopeptidase with thrombospondin type 1 motif, 7							158.0	128.0	138.0					15																	79089016		2196	4293	6489	SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79089016C>A	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.735G>T	15.37:g.79089016C>A	ENSP00000373472:p.Glu245Asp					ADAMTS7_ENST00000566303.1_5'UTR	p.E245D	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			4	945	-			245			Peptidase M12B.		Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.735G>T	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.730116	0.69074	.	.	ENSG00000136378	ENST00000388820;ENST00000456326	D	0.90069	-2.61	5.49	2.61	0.31194	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.95723	0.8609	H	0.97390	3.995	0.44728	D	0.997724	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.87578	0.976;0.998;0.985	D	0.94562	0.7763	10	0.87932	D	0	.	8.5782	0.33612	0.0:0.7486:0.0:0.2514	.	245;245;245	E7EP58;A8MQ00;Q9UKP4	.;.;ATS7_HUMAN	D	245	ENSP00000373472:E245D	ENSP00000373472:E245D	E	-	3	2	ADAMTS7	76876071	0.999000	0.42202	1.000000	0.80357	0.775000	0.43874	0.719000	0.25881	0.705000	0.31890	-0.369000	0.07265	GAG		0.607	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		35	119	1	0	1.45844e-13	1	1.92793e-13	35	119				
BAGE2	85319	broad.mit.edu	37	21	11098863	11098863	+	RNA	SNP	A	A	G	rs75318310	byFrequency	TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr21:11098863A>G	ENST00000470054.1	-	0	62							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccagcctccaactcccccttc	0.627																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11098863A>G	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11098863A>G												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	62	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.627	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		8	35	0	0	0	1	0	8	35				
MTF1	4520	broad.mit.edu	37	1	38281095	38281095	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:38281095G>A	ENST00000373036.4	-	11	2115	c.1975C>T	c.(1975-1977)Cca>Tca	p.P659S		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	659					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTCGGCTCTGGAGGGGGTGGG	0.622																																						ENST00000373036.4																			0				endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31						c.(1975-1977)Cca>Tca		metal-regulatory transcription factor 1							28.0	32.0	31.0					1																	38281095		2203	4300	6503	SO:0001583	missense	4520					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding	g.chr1:38281095G>A	BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.1975C>T	1.37:g.38281095G>A	ENSP00000362127:p.Pro659Ser						p.P659S	NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN			11	2115	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	659					B2RAK6|Q96CB1	Missense_Mutation	SNP	ENST00000373036.4	37	c.1975C>T	CCDS30676.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.722989	0.30503	.	.	ENSG00000188786	ENST00000373036	T	0.11604	2.76	5.42	2.39	0.29439	.	0.318355	0.33753	N	0.004586	T	0.11665	0.0284	M	0.61703	1.905	0.33866	D	0.634369	B	0.13145	0.007	B	0.12156	0.007	T	0.06862	-1.0803	10	0.35671	T	0.21	.	9.2004	0.37254	0.1213:0.2253:0.6533:0.0	.	659	Q14872	MTF1_HUMAN	S	659	ENSP00000362127:P659S	ENSP00000362127:P659S	P	-	1	0	MTF1	38053682	1.000000	0.71417	1.000000	0.80357	0.323000	0.28346	2.798000	0.47884	0.799000	0.34018	0.563000	0.77884	CCA		0.622	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2	NM_005955		14	48	0	0	0	1	0	14	48				
GNAI1	2770	broad.mit.edu	37	7	79828564	79828564	+	Silent	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:79828564G>T	ENST00000351004.3	+	4	700	c.327G>T	c.(325-327)gtG>gtT	p.V109V	GNAI1_ENST00000457358.2_Silent_p.V57V	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	109					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|response to peptide hormone (GO:0043434)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						AACTCTTTGTGCTAGCTGGAG	0.398																																						ENST00000351004.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						c.(325-327)gtG>gtT		guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1							114.0	108.0	110.0					7																	79828564		2203	4300	6503	SO:0001819	synonymous_variant	2770				cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity	g.chr7:79828564G>T	AL049933	CCDS5595.1, CCDS59061.1	7q21-q22	2008-07-18			ENSG00000127955	ENSG00000127955			4384	protein-coding gene	gene with protein product	"""Gi1 protein alpha subunit"""	139310				3110783	Standard	NM_002069		Approved		uc003uhb.1	P63096	OTTHUMG00000023523	ENST00000351004.3:c.327G>T	7.37:g.79828564G>T						GNAI1_ENST00000457358.2_Silent_p.V57V	p.V109V	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN			4	700	+			109					A8KA88|B4E2V1|C9J3A4|P04898|P11015|P31871|Q5U074|Q8TAN5|Q9UGA4	Silent	SNP	ENST00000351004.3	37	c.327G>T	CCDS5595.1																																																																																				0.398	GNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253254.1	NM_002069		26	84	1	0	0.000117367	1	0.000126901	26	84				
ACADL	33	broad.mit.edu	37	2	211081170	211081170	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:211081170G>A	ENST00000233710.3	-	4	664	c.437C>T	c.(436-438)aCa>aTa	p.T146I	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	146					carnitine catabolic process (GO:0042413)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid catabolic process (GO:0044242)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|long-chain fatty acid catabolic process (GO:0042758)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|oxidation-reduction process (GO:0055114)|protein homotetramerization (GO:0051289)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|palmitoyl-CoA oxidase activity (GO:0016401)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		GCCATGGTTTGTAATATAGGA	0.383																																						ENST00000233710.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						c.(436-438)aCa>aTa		acyl-CoA dehydrogenase, long chain							136.0	127.0	130.0					2																	211081170		2203	4300	6503	SO:0001583	missense	33				carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity	g.chr2:211081170G>A	M74096	CCDS2389.1	2q34	2012-07-13	2010-04-30		ENSG00000115361	ENSG00000115361	1.3.99.13		88	protein-coding gene	gene with protein product		609576	"""acyl-Coenzyme A dehydrogenase, long chain"""			1774065	Standard	NM_001608		Approved	LCAD, ACAD4	uc002vdz.4	P28330	OTTHUMG00000132989	ENST00000233710.3:c.437C>T	2.37:g.211081170G>A	ENSP00000233710:p.Thr146Ile					AC006994.2_ENST00000412065.1_RNA	p.T146I	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)	4	664	-		Renal(323;0.202)	146					B2R8T3|Q8IUN8	Missense_Mutation	SNP	ENST00000233710.3	37	c.437C>T	CCDS2389.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.003262	0.35320	.	.	ENSG00000115361	ENST00000233710	D	0.99663	-6.33	5.77	5.77	0.91146	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.489689	0.25236	N	0.032128	D	0.98235	0.9416	N	0.22421	0.69	0.25995	N	0.98219	B	0.21520	0.057	B	0.23716	0.048	D	0.91173	0.4970	10	0.28530	T	0.3	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	146	P28330	ACADL_HUMAN	I	146	ENSP00000233710:T146I	ENSP00000233710:T146I	T	-	2	0	ACADL	210789415	0.942000	0.31987	0.998000	0.56505	0.975000	0.68041	1.934000	0.40163	2.885000	0.99019	0.655000	0.94253	ACA		0.383	ACADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256561.2	NM_001608		33	93	0	0	0	1	0	33	93				
ANO9	338440	broad.mit.edu	37	11	420988	420988	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:420988C>A	ENST00000332826.6	-	17	1531	c.1447G>T	c.(1447-1449)Ggc>Tgc	p.G483C		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	483					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						TGCTTCAGGCCCATGATGATG	0.701																																						ENST00000332826.6																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						c.(1447-1449)Ggc>Tgc		anoctamin 9							30.0	32.0	31.0					11																	420988		2202	4294	6496	SO:0001583	missense	338440					chloride channel complex	chloride channel activity	g.chr11:420988C>A	U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	20679	protein-coding gene	gene with protein product			"""tumor protein p53 inducible protein 5"", ""transmembrane protein 16J"""	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.1447G>T	11.37:g.420988C>A	ENSP00000332788:p.Gly483Cys						p.G483C	NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN			17	1531	-			483					B3KUC4|B4E134|Q8TEN4	Missense_Mutation	SNP	ENST00000332826.6	37	c.1447G>T	CCDS31326.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.039789	0.55003	.	.	ENSG00000185101	ENST00000332826	T	0.62941	-0.01	3.99	3.07	0.35406	.	2.171710	0.02642	N	0.105452	T	0.73869	0.3642	L	0.46819	1.47	0.38208	D	0.940399	D;D	0.76494	0.999;0.998	P;D	0.65443	0.893;0.935	T	0.57952	-0.7722	10	0.56958	D	0.05	.	8.8858	0.35402	0.0:0.7499:0.0:0.2501	.	184;483	A1A5B4-2;A1A5B4	.;ANO9_HUMAN	C	483	ENSP00000332788:G483C	ENSP00000332788:G483C	G	-	1	0	ANO9	410988	0.468000	0.25839	0.999000	0.59377	0.739000	0.42172	0.851000	0.27751	0.798000	0.33994	0.306000	0.20318	GGC		0.701	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1	NM_001012302		14	44	1	0	6.53275e-17	1	9.087e-17	14	44				
C10orf10	11067	broad.mit.edu	37	10	45473430	45473430	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:45473430C>A	ENST00000298295.3	-	2	266	c.49G>T	c.(49-51)Gag>Tag	p.E17*	C10orf10_ENST00000496638.1_Intron|RASSF4_ENST00000340258.5_Intron|RASSF4_ENST00000334940.6_Intron|RASSF4_ENST00000374417.2_Intron|RASSF4_ENST00000472561.1_Intron	NM_007021.3	NP_008952.1	Q9NTK1	DEPP_HUMAN	chromosome 10 open reading frame 10	17						mitochondrion (GO:0005739)				lung(1)	1						TCCGTGGTCTCCCGAATTGTG	0.612																																						ENST00000298295.3																			0				lung(1)	1						c.(49-51)Gag>Tag		chromosome 10 open reading frame 10							45.0	50.0	48.0					10																	45473430		2202	4298	6500	SO:0001587	stop_gained	11067					mitochondrion		g.chr10:45473430C>A	AB022718	CCDS7210.1	10q11.21	2014-07-31			ENSG00000165507	ENSG00000165507			23355	protein-coding gene	gene with protein product	"""decidual protein induced by progesterone"", ""fasting induced"", ""fat-specific expressed gene"""	611309				24530860, 19937567, 16123073	Standard	NM_007021		Approved	DEPP, FIG, Fseg	uc001jbr.4	Q9NTK1	OTTHUMG00000018063	ENST00000298295.3:c.49G>T	10.37:g.45473430C>A	ENSP00000298295:p.Glu17*					RASSF4_ENST00000340258.4_Intron|RASSF4_ENST00000472561.1_Intron|RASSF4_ENST00000374417.2_Intron|C10orf10_ENST00000496638.1_Intron|RASSF4_ENST00000334940.6_Intron	p.E17*	NM_007021.3	NP_008952.1	Q9NTK1	DEPP_HUMAN			2	266	-			17					B2R6A1|O94997|Q5T735|Q76MX8	Nonsense_Mutation	SNP	ENST00000298295.3	37	c.49G>T	CCDS7210.1	.	.	.	.	.	.	.	.	.	.	C	39	7.875160	0.98537	.	.	ENSG00000165507	ENST00000298295;ENST00000432283;ENST00000448778	.	.	.	5.63	5.63	0.86233	.	0.000000	0.47455	D	0.000223	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-25.5567	15.1661	0.72825	0.0:1.0:0.0:0.0	.	.	.	.	X	17	.	ENSP00000298295:E17X	E	-	1	0	C10orf10	44793436	1.000000	0.71417	0.977000	0.42913	0.991000	0.79684	3.514000	0.53422	2.646000	0.89796	0.561000	0.74099	GAG		0.612	C10orf10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047758.1	NM_007021		19	101	1	0	1.15919e-05	1	1.29133e-05	19	101				
DDX56	54606	broad.mit.edu	37	7	44611157	44611157	+	Missense_Mutation	SNP	C	C	T	rs41279636	byFrequency	TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:44611157C>T	ENST00000258772.5	-	6	930	c.824G>A	c.(823-825)cGc>cAc	p.R275H	DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000431640.1_Missense_Mutation_p.R275H	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	275	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						CAAGAACAGGCGTAGCCGGTA	0.512													C|||	3	0.000599042	0.0	0.0	5008	,	,		19362	0.0		0.003	False		,,,				2504	0.0					ENST00000258772.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						c.(823-825)cGc>cAc		DEAD (Asp-Glu-Ala-Asp) box helicase 56		C	HIS/ARG	7,4399		0,7,2196	76.0	70.0	72.0		824	5.8	1.0	7	dbSNP_127	72	52,8548		0,52,4248	yes	missense	DDX56	NM_019082.2	29	0,59,6444	TT,TC,CC		0.6047,0.1589,0.4536	probably-damaging	275/548	44611157	59,12947	2203	4300	6503	SO:0001583	missense	54606				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding	g.chr7:44611157C>T	AJ131712	CCDS5492.1, CCDS59053.1	7p13	2012-02-23	2012-02-23		ENSG00000136271	ENSG00000136271		"""DEAD-boxes"""	18193	protein-coding gene	gene with protein product	"""nucleolar helicase of 61 kDa"""	608023	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 56"""			10749921	Standard	NM_019082		Approved	NOH61	uc003tlg.4	Q9NY93	OTTHUMG00000129211	ENST00000258772.5:c.824G>A	7.37:g.44611157C>T	ENSP00000258772:p.Arg275His					DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000431640.1_Missense_Mutation_p.R275H	p.R275H	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN			6	930	-			275			Helicase C-terminal.		A4D2K9|C9JV95|Q6IAE2|Q9H9I8	Missense_Mutation	SNP	ENST00000258772.5	37	c.824G>A	CCDS5492.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	.	23.4	4.411539	0.83340	0.001589	0.006047	ENSG00000136271	ENST00000258772;ENST00000431640	T;T	0.03689	3.85;3.84	5.82	5.82	0.92795	Helicase, C-terminal (2);	0.055575	0.64402	D	0.000002	T	0.04092	0.0114	N	0.12182	0.205	0.46241	D	0.998944	D;D	0.89917	1.0;0.998	P;P	0.61592	0.891;0.791	T	0.50939	-0.8768	10	0.46703	T	0.11	-19.2792	10.9341	0.47235	0.0:0.9153:0.0:0.0847	rs41279636;rs61756272	275;275	C9JV95;Q9NY93	.;DDX56_HUMAN	H	275	ENSP00000258772:R275H;ENSP00000393488:R275H	ENSP00000258772:R275H	R	-	2	0	DDX56	44577682	1.000000	0.71417	0.987000	0.45799	0.554000	0.35429	4.330000	0.59266	2.743000	0.94032	0.563000	0.77884	CGC		0.512	DDX56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251291.1	NM_019082		28	88	0	0	0	1	0	28	88				
POTEG	404785	broad.mit.edu	37	14	19553564	19553564	+	Missense_Mutation	SNP	G	G	T	rs369726800		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr14:19553564G>T	ENST00000409832.3	+	1	200	c.148G>T	c.(148-150)Gac>Tac	p.D50Y		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	50										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TGGAGACCACGACGATTCTGC	0.607																																						ENST00000409832.3																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(148-150)Gac>Tac		POTE ankyrin domain family, member G							86.0	119.0	108.0					14																	19553564		2192	4283	6475	SO:0001583	missense	404785							g.chr14:19553564G>T		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.148G>T	14.37:g.19553564G>T	ENSP00000386971:p.Asp50Tyr						p.D50Y	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN			1	200	+			50					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.148G>T	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	g	8.277	0.814768	0.16607	.	.	ENSG00000222036	ENST00000409832	T	0.41758	0.99	.	.	.	.	.	.	.	.	T	0.50565	0.1623	L	0.43152	1.355	0.09310	N	1	D	0.89917	1.0	D	0.77004	0.989	T	0.36138	-0.9760	7	0.87932	D	0	.	.	.	.	.	50	Q6S5H5	POTEG_HUMAN	Y	50	ENSP00000386971:D50Y	ENSP00000386971:D50Y	D	+	1	0	POTEG	18623564	0.000000	0.05858	0.013000	0.15412	0.013000	0.08279	-0.414000	0.07114	0.162000	0.19483	0.165000	0.16767	GAC		0.607	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		55	539	1	0	1.53716e-24	1	2.29533e-24	55	539				
NRG1	3084	broad.mit.edu	37	8	32505844	32505844	+	Intron	SNP	C	C	A	rs76552623		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:32505844C>A	ENST00000405005.3	+	5	502				NRG1_ENST00000520407.1_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000520502.2_Missense_Mutation_p.P203H|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000287845.5_Intron			Q02297	NRG1_HUMAN	neuregulin 1						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GTGAGAACGCCCAAGTCAGCA	0.488																																						ENST00000520502.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39						c.(607-609)cCc>cAc		neuregulin 1							84.0	71.0	75.0					8																	32505844		2203	4300	6503	SO:0001627	intron_variant	3084				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr8:32505844C>A	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.502+31441C>A	8.37:g.32505844C>A						NRG1_ENST00000338921.4_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000405005.2_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000287840.5_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000523079.1_Intron	p.P203H	NM_013959.3	NP_039253.1	Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	1	608	+		Breast(100;0.203)	464			EGF-like.		A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	ENST00000405005.3	37	c.608C>A	CCDS6085.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.500181	0.64298	.	.	ENSG00000157168	ENST00000520502;ENST00000523041	T	0.14022	2.54	5.77	5.77	0.91146	.	.	.	.	.	T	0.28797	0.0714	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.00768	-1.1574	9	0.72032	D	0.01	.	18.5428	0.91035	0.0:1.0:0.0:0.0	.	203;203	Q53F54;Q02297-10	.;.	H	203;163	ENSP00000433289:P203H	ENSP00000433289:P203H	P	+	2	0	NRG1	32625386	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.461000	0.53035	2.885000	0.99019	0.655000	0.94253	CCC		0.488	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			18	49	1	0	5.03518e-11	1	6.38286e-11	18	49				
LHFPL2	10184	broad.mit.edu	37	5	77805896	77805896	+	Silent	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:77805896C>G	ENST00000515007.2	-	2	451	c.141G>C	c.(139-141)gcG>gcC	p.A47A	LHFPL2_ENST00000380345.2_Silent_p.A47A			Q6ZUX7	LHPL2_HUMAN	lipoma HMGIC fusion partner-like 2	47						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		cgcccgggcccgccggctcca	0.687																																						ENST00000380345.2																			0				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6						c.(139-141)gcG>gcC		lipoma HMGIC fusion partner-like 2							10.0	13.0	12.0					5																	77805896		2100	4199	6299	SO:0001819	synonymous_variant	10184					integral to membrane		g.chr5:77805896C>G	D86961	CCDS4042.1	5q13	2008-02-05			ENSG00000145685	ENSG00000145685			6588	protein-coding gene	gene with protein product		609718				10329012	Standard	NM_005779		Approved	KIAA0206	uc003kfo.3	Q6ZUX7	OTTHUMG00000107579	ENST00000515007.2:c.141G>C	5.37:g.77805896C>G						LHFPL2_ENST00000515007.2_Silent_p.A47A	p.A47A	NM_005779.2	NP_005770.1	Q6ZUX7	LHPL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)	4	816	-		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)	47					B2RMQ6|Q7Z5P0|Q92605	Silent	SNP	ENST00000515007.2	37	c.141G>C	CCDS4042.1																																																																																				0.687	LHFPL2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369098.2	NM_005779		5	21	0	0	0	1	0	5	21				
ADAM19	8728	broad.mit.edu	37	5	156918648	156918648	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:156918648G>C	ENST00000517905.1	-	18	2114	c.2070C>G	c.(2068-2070)atC>atG	p.I690M	ADAM19_ENST00000394020.1_Missense_Mutation_p.I692M|ADAM19_ENST00000257527.4_Missense_Mutation_p.I690M|ADAM19_ENST00000430702.2_Missense_Mutation_p.I423M			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	690					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCCCACTGTCGATACTGCCCC	0.637																																						ENST00000257527.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(2068-2070)atC>atG		ADAM metallopeptidase domain 19							20.0	21.0	21.0					5																	156918648		2202	4298	6500	SO:0001583	missense	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156918648G>C	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.2070C>G	5.37:g.156918648G>C	ENSP00000428654:p.Ile690Met					ADAM19_ENST00000430702.2_Missense_Mutation_p.I423M|ADAM19_ENST00000517905.1_Missense_Mutation_p.I690M|ADAM19_ENST00000394020.1_Missense_Mutation_p.I692M	p.I690M	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		18	2148	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	690					Q9BZL5|Q9UHP2	Missense_Mutation	SNP	ENST00000517905.1	37	c.2070C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.30|14.30	2.493821|2.493821	0.44352|0.44352	.|.	.|.	ENSG00000135074|ENSG00000135074	ENST00000430702;ENST00000257527;ENST00000394020;ENST00000517905|ENST00000517374	D;D;D;D|.	0.95918|.	-3.85;-3.85;-3.85;-3.85|.	4.93|4.93	-0.26|-0.26	0.12967|0.12967	.|.	0.281213|.	0.28332|.	N|.	0.015729|.	T|T	0.49440|0.49440	0.1557|0.1557	M|M	0.76938|0.76938	2.355|2.355	0.32542|0.32542	N|N	0.533501|0.533501	P;P;P|.	0.49090|.	0.917;0.919;0.865|.	P;B;B|.	0.44696|.	0.458;0.269;0.269|.	T|T	0.55003|0.55003	-0.8208|-0.8208	10|5	0.48119|.	T|.	0.1|.	.|.	1.7668|1.7668	0.03004|0.03004	0.3029:0.2955:0.2906:0.111|0.3029:0.2955:0.2906:0.111	.|.	690;690;423|.	Q9H013-2;Q9H013;E9PD32|.	.;ADA19_HUMAN;.|.	M|W	423;690;692;690|261	ENSP00000414088:I423M;ENSP00000257527:I690M;ENSP00000377588:I692M;ENSP00000428654:I690M|.	ENSP00000257527:I690M|.	I|S	-|-	3|2	3|0	ADAM19|ADAM19	156851226|156851226	0.637000|0.637000	0.27216|0.27216	0.988000|0.988000	0.46212|0.46212	0.732000|0.732000	0.41865|0.41865	-0.080000|-0.080000	0.11339|0.11339	-0.409000|-0.409000	0.07553|0.07553	-0.300000|-0.300000	0.09419|0.09419	ATC|TCG		0.637	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		3	18	0	0	0	1	0	3	18				
TRPM3	80036	broad.mit.edu	37	9	73457962	73457962	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:73457962G>T	ENST00000377111.2	-	5	1001	c.758C>A	c.(757-759)cCc>cAc	p.P253H	TRPM3_ENST00000377101.1_Missense_Mutation_p.P100H|TRPM3_ENST00000358082.3_Missense_Mutation_p.P100H|TRPM3_ENST00000377105.1_Missense_Mutation_p.P100H|TRPM3_ENST00000408909.2_Missense_Mutation_p.P100H|TRPM3_ENST00000377110.3_Missense_Mutation_p.P253H|TRPM3_ENST00000357533.2_Missense_Mutation_p.P255H|TRPM3_ENST00000377106.1_Missense_Mutation_p.P100H|TRPM3_ENST00000423814.3_Missense_Mutation_p.P255H|TRPM3_ENST00000396280.5_Missense_Mutation_p.P100H|TRPM3_ENST00000396285.1_Missense_Mutation_p.P100H|TRPM3_ENST00000360823.2_Missense_Mutation_p.P100H|TRPM3_ENST00000377097.3_Missense_Mutation_p.P100H|TRPM3_ENST00000396292.4_Missense_Mutation_p.P100H|TRPM3_ENST00000361823.5_Missense_Mutation_p.P100H|TRPM3_ENST00000396283.1_Missense_Mutation_p.P100H	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	253					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AATTCCCCAGGGGGCAATACC	0.458																																						ENST00000377110.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(757-759)cCc>cAc		transient receptor potential cation channel, subfamily M, member 3							88.0	80.0	82.0					9																	73457962		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73457962G>T	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.758C>A	9.37:g.73457962G>T	ENSP00000366315:p.Pro253His					TRPM3_ENST00000396285.1_Missense_Mutation_p.P100H|TRPM3_ENST00000357533.2_Missense_Mutation_p.P255H|TRPM3_ENST00000396292.4_Missense_Mutation_p.P100H|TRPM3_ENST00000377097.3_Missense_Mutation_p.P100H|TRPM3_ENST00000423814.3_Missense_Mutation_p.P255H|TRPM3_ENST00000358082.3_Missense_Mutation_p.P100H|TRPM3_ENST00000377105.1_Missense_Mutation_p.P100H|TRPM3_ENST00000377106.1_Missense_Mutation_p.P100H|TRPM3_ENST00000360823.2_Missense_Mutation_p.P100H|TRPM3_ENST00000408909.2_Missense_Mutation_p.P100H|TRPM3_ENST00000377101.1_Missense_Mutation_p.P100H|TRPM3_ENST00000396280.5_Missense_Mutation_p.P100H|TRPM3_ENST00000361823.5_Missense_Mutation_p.P100H|TRPM3_ENST00000377111.2_Missense_Mutation_p.P253H|TRPM3_ENST00000396283.1_Missense_Mutation_p.P100H	p.P253H	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN			5	1001	-			253					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.758C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.3|24.3	4.514917|4.514917	0.85389|0.85389	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814;ENST00000377101;ENST00000396283;ENST00000361823;ENST00000455451|ENST00000377097	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.21543|.	4.04;4.04;4.04;4.04;4.04;4.04;4.04;4.04;4.04;4.04;4.04;4.04;4.04;2.0|.	5.61|5.61	4.71|4.71	0.59529|0.59529	.|.	0.054577|0.054577	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.83663|0.83663	0.5303|0.5303	M|M	0.91972|0.91972	3.26|3.26	0.58432|0.58432	D|D	0.999998|0.999998	D;D;D;D;D;D;D;D;D;D;D|.	0.89917|.	0.996;1.0;1.0;1.0;1.0;0.995;1.0;1.0;0.995;1.0;1.0|.	P;D;D;D;D;P;D;D;P;D;D|.	0.97110|.	0.874;1.0;1.0;1.0;0.999;0.823;0.995;0.999;0.823;0.999;0.997|.	D|D	0.87598|0.87598	0.2495|0.2495	10|7	0.87932|0.87932	D|D	0|0	-17.4961|-17.4961	14.3745|14.3745	0.66865|0.66865	0.0712:0.0:0.9288:0.0|0.0712:0.0:0.9288:0.0	.|.	253;255;100;253;253;253;255;100;100;253;100|.	Q9HCF6;Q4VXD2;Q504Y1;Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3|.	TRPM3_HUMAN;.;.;.;.;.;.;.;.;.;.|.	H|T	253;253;100;100;100;255;100;100;100;100;255;100;100;100;100|143	ENSP00000366315:P253H;ENSP00000366314:P253H;ENSP00000366310:P100H;ENSP00000354066:P100H;ENSP00000366309:P100H;ENSP00000350140:P255H;ENSP00000386127:P100H;ENSP00000379581:P100H;ENSP00000379587:P100H;ENSP00000350791:P100H;ENSP00000389542:P255H;ENSP00000366305:P100H;ENSP00000379579:P100H;ENSP00000355395:P100H|.	ENSP00000350140:P255H|ENSP00000366301:P143T	P|P	-|-	2|1	0|0	TRPM3|TRPM3	72647782|72647782	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.996000|0.996000	0.88848|0.88848	9.869000|9.869000	0.99810|0.99810	1.362000|1.362000	0.46000|0.46000	0.561000|0.561000	0.74099|0.74099	CCC|CCT		0.458	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		27	56	1	0	4.72057e-08	1	5.5723e-08	27	56				
PVRL4	81607	broad.mit.edu	37	1	161044038	161044038	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:161044038G>A	ENST00000368012.3	-	6	1428	c.1126C>T	c.(1126-1128)Cgg>Tgg	p.R376W	PVRL4_ENST00000486694.1_5'UTR|PVRL4_ENST00000453926.2_Missense_Mutation_p.R110W	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	376					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R376R(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GCCTTGCGCCGATGGTATCGG	0.577																																					NSCLC(76;1160 1387 14476 16172 29359)	ENST00000368012.3																			1	Substitution - coding silent(1)	p.R376R(1)	kidney(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20						c.(1126-1128)Cgg>Tgg		poliovirus receptor-related 4							165.0	150.0	155.0					1																	161044038		2203	4300	6503	SO:0001583	missense	81607				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane		g.chr1:161044038G>A	AF426163	CCDS1216.1	1q22-q23.2	2013-01-14			ENSG00000143217	ENSG00000143217		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19688	protein-coding gene	gene with protein product		609607				11544254	Standard	NM_030916		Approved	nectin-4, PRR4, LNIR	uc001fxo.2	Q96NY8	OTTHUMG00000031475	ENST00000368012.3:c.1126C>T	1.37:g.161044038G>A	ENSP00000356991:p.Arg376Trp					PVRL4_ENST00000486694.1_5'UTR|PVRL4_ENST00000453926.2_Missense_Mutation_p.R110W	p.R376W	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		6	1428	-	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		376					B4DQW3|Q96K15	Missense_Mutation	SNP	ENST00000368012.3	37	c.1126C>T	CCDS1216.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288354	0.80803	.	.	ENSG00000143217	ENST00000368012;ENST00000453926	T;T	0.49720	0.77;0.77	4.99	4.99	0.66335	.	0.000000	0.48767	D	0.000163	T	0.44307	0.1287	N	0.19112	0.55	0.45284	D	0.998286	D;D;D	0.89917	0.999;1.0;1.0	P;D;D	0.79784	0.853;0.993;0.952	T	0.53711	-0.8400	10	0.87932	D	0	.	13.7754	0.63050	0.0:0.0:1.0:0.0	.	110;55;376	B4DQW3;B4DWD4;Q96NY8	.;.;PVRL4_HUMAN	W	376;110	ENSP00000356991:R376W;ENSP00000406015:R110W	ENSP00000356991:R376W	R	-	1	2	PVRL4	159310662	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	3.404000	0.52623	2.299000	0.77371	0.462000	0.41574	CGG		0.577	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077074.1	NM_030916		12	74	0	0	0	1	0	12	74				
TRABD2A	129293	broad.mit.edu	37	2	85097647	85097647	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:85097647T>C	ENST00000409520.2	-	2	413	c.371A>G	c.(370-372)aAg>aGg	p.K124R	TRABD2A_ENST00000409133.1_Missense_Mutation_p.K124R|TRABD2A_ENST00000335459.5_Missense_Mutation_p.K124R	NM_001277053.1	NP_001263982.1	Q86V40	TIKI1_HUMAN	TraB domain containing 2A	124					head development (GO:0060322)|metabolic process (GO:0008152)|negative regulation of Wnt signaling pathway (GO:0030178)|protein oxidation (GO:0018158)|Wnt signaling pathway (GO:0016055)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|Wnt-protein binding (GO:0017147)										CAGGTGGCGCTTGAGGCGGCA	0.577																																						ENST00000335459.5																			0											c.(370-372)aAg>aGg		TraB domain containing 2A							50.0	55.0	54.0					2																	85097647		2123	4234	6357	SO:0001583	missense	129293							g.chr2:85097647T>C	BC049209	CCDS46349.1, CCDS62946.1	2p11.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000186854	ENSG00000186854			27013	protein-coding gene	gene with protein product		614912	"""chromosome 2 open reading frame 89"""	C2orf89		12477932	Standard	NM_001080824		Approved		uc010ysl.3	Q86V40	OTTHUMG00000152922	ENST00000409520.2:c.371A>G	2.37:g.85097647T>C	ENSP00000387075:p.Lys124Arg					TRABD2A_ENST00000409133.1_Missense_Mutation_p.K124R|TRABD2A_ENST00000409520.2_Missense_Mutation_p.K124R	p.K124R	NM_001080824.1	NP_001074293.1					2	576	-								B4DKK8|I6UMB9	Missense_Mutation	SNP	ENST00000409520.2	37	c.371A>G		.	.	.	.	.	.	.	.	.	.	T	21.9	4.213995	0.79352	.	.	ENSG00000186854	ENST00000335459;ENST00000409520;ENST00000409133	T;T;T	0.21191	2.02;2.02;2.02	3.43	3.43	0.39272	.	0.071997	0.51477	D	0.000082	T	0.41213	0.1149	.	.	.	0.37140	D	0.901657	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.79784	0.992;0.993;0.992	T	0.46775	-0.9167	9	0.48119	T	0.1	.	9.8602	0.41109	0.0:0.0:0.0:1.0	.	124;124;124	Q86V40;C9IYB5;Q86V40-2	CB089_HUMAN;.;.	R	124	ENSP00000335004:K124R;ENSP00000387075:K124R;ENSP00000387183:K124R	ENSP00000335004:K124R	K	-	2	0	C2orf89	84951158	1.000000	0.71417	0.993000	0.49108	0.910000	0.53928	5.101000	0.64566	1.421000	0.47157	0.379000	0.24179	AAG		0.577	TRABD2A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001080824		20	50	0	0	0	1	0	20	50				
C20orf166-AS1	253868	broad.mit.edu	37	20	61143518	61143518	+	RNA	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr20:61143518G>A	ENST00000475015.1	-	0	820				C20orf166-AS1_ENST00000436101.1_RNA|C20orf166-AS1_ENST00000412495.1_RNA			Q96NR2	C2AS1_HUMAN	C20orf166 antisense RNA 1																		GGAGGAGGAGGATGGCCCTGC	0.637																																						ENST00000475015.1																			0																				38.0	37.0	37.0					20																	61143518		2203	4300	6503			253868							g.chr20:61143518G>A	AK054875		20q13.33	2012-10-12	2012-08-15	2011-08-10	ENSG00000174403	ENSG00000174403		"""Long non-coding RNAs"""	26393	non-coding RNA	RNA, long non-coding			"""chromosome 20 open reading frame 200"", ""non-protein coding RNA 335"", ""C20orf166 antisense RNA 1 (non-protein coding)"""	C20orf200, NCRNA00335			Standard	NR_033263		Approved	FLJ30313	uc002ycz.3	Q96NR2	OTTHUMG00000048002		20.37:g.61143518G>A						C20orf166-AS1_ENST00000412495.1_RNA								0	820	-								Q52LN1	RNA	SNP	ENST00000475015.1	37																																																																																						0.637	C20orf166-AS1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000109266.2	NR_033263		10	49	0	0	0	1	0	10	49				
BTNL9	153579	broad.mit.edu	37	5	180477136	180477136	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:180477136G>A	ENST00000327705.9	+	4	734	c.503G>A	c.(502-504)gGc>gAc	p.G168D	BTNL9_ENST00000376841.2_Missense_Mutation_p.G168D|BTNL9_ENST00000515271.1_Missense_Mutation_p.G99D|BTNL9_ENST00000376842.3_Missense_Mutation_p.G168D	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	168						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGGAAGGAGGCATTCAGCTG	0.582																																						ENST00000327705.9																			0				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19						c.(502-504)gGc>gAc		butyrophilin-like 9							79.0	80.0	80.0					5																	180477136		2203	4300	6503	SO:0001583	missense	153579					integral to membrane		g.chr5:180477136G>A	AK057097	CCDS4460.2	5q35.3	2014-01-14			ENSG00000165810	ENSG00000165810		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	24176	protein-coding gene	gene with protein product							Standard	NM_152547		Approved	FLJ32535, BTN8	uc003mmt.3	Q6UXG8	OTTHUMG00000133152	ENST00000327705.9:c.503G>A	5.37:g.180477136G>A	ENSP00000330200:p.Gly168Asp					BTNL9_ENST00000515271.1_Missense_Mutation_p.G99D|BTNL9_ENST00000376841.2_Missense_Mutation_p.G168D|BTNL9_ENST00000376842.3_Missense_Mutation_p.G168D	p.G168D	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	734	+	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	168					A6NL42|Q6P660|Q96DM5	Missense_Mutation	SNP	ENST00000327705.9	37	c.503G>A	CCDS4460.2	.	.	.	.	.	.	.	.	.	.	G	18.39	3.612754	0.66672	.	.	ENSG00000165810	ENST00000376841;ENST00000327705;ENST00000376842;ENST00000376850;ENST00000515271	T;T;T;T	0.06142	3.34;3.34;3.34;3.34	4.58	3.7	0.42460	.	0.171905	0.28042	N	0.016827	T	0.24470	0.0593	M	0.87617	2.895	0.28855	N	0.895826	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.05716	-1.0868	10	0.56958	D	0.05	.	7.1495	0.25601	0.2002:0.0:0.7998:0.0	.	99;168	B7Z4Y8;Q6UXG8	.;BTNL9_HUMAN	D	168;168;168;168;99	ENSP00000366037:G168D;ENSP00000330200:G168D;ENSP00000366038:G168D;ENSP00000427345:G99D	ENSP00000330200:G168D	G	+	2	0	BTNL9	180409742	0.998000	0.40836	0.997000	0.53966	0.996000	0.88848	2.192000	0.42649	1.304000	0.44892	0.650000	0.86243	GGC		0.582	BTNL9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157342.3	NM_152547		31	117	0	0	0	1	0	31	117				
HEPH	9843	broad.mit.edu	37	X	65390434	65390434	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chrX:65390434T>C	ENST00000343002.2	+	1	686	c.22T>C	c.(22-24)Tgg>Cgg	p.W8R	HEPH_ENST00000519389.1_Missense_Mutation_p.W62R|HEPH_ENST00000336279.5_Intron|HEPH_ENST00000419594.1_Missense_Mutation_p.W11R|HEPH_ENST00000374727.3_Missense_Mutation_p.W11R|HEPH_ENST00000441993.2_Missense_Mutation_p.W11R			Q9BQS7	HEPH_HUMAN	hephaestin	8					cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CCACCTCCTCTGGGCTCTGCT	0.527																																						ENST00000519389.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(184-186)Tgg>Cgg		hephaestin							62.0	48.0	53.0					X																	65390434		2203	4300	6503	SO:0001583	missense	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65390434T>C	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.22T>C	X.37:g.65390434T>C	ENSP00000343939:p.Trp8Arg					HEPH_ENST00000419594.1_Missense_Mutation_p.W11R|HEPH_ENST00000441993.2_Missense_Mutation_p.W11R|HEPH_ENST00000374727.3_Missense_Mutation_p.W11R|HEPH_ENST00000343002.2_Missense_Mutation_p.W8R|HEPH_ENST00000336279.5_Intron	p.W62R			Q9BQS7	HEPH_HUMAN			2	363	+			8			Plastocyanin-like 1.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37	c.184T>C		.	.	.	.	.	.	.	.	.	.	T	10.21	1.287034	0.23478	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000458621;ENST00000441993;ENST00000419594;ENST00000343002;ENST00000425114	D;D;D;D;D;D;D	0.99239	-5.61;-5.59;-5.22;-5.6;-5.59;-5.59;-5.59	5.01	3.84	0.44239	.	0.943872	0.08922	N	0.874339	D	0.96818	0.8961	L	0.35414	1.06	0.20975	N	0.999818	B;B;P	0.39665	0.382;0.022;0.682	B;B;B	0.33392	0.091;0.008;0.163	D	0.94100	0.7361	10	0.25751	T	0.34	.	9.0753	0.36517	0.0:0.0:0.1979:0.8021	.	62;11;8	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	R	62;11;8;11;11;8;8	ENSP00000430620:W62R;ENSP00000363859:W11R;ENSP00000396907:W8R;ENSP00000411687:W11R;ENSP00000413211:W11R;ENSP00000343939:W8R;ENSP00000398078:W8R	ENSP00000343939:W8R	W	+	1	0	HEPH	65307159	1.000000	0.71417	0.354000	0.25760	0.143000	0.21401	2.935000	0.48963	1.846000	0.53633	0.417000	0.27973	TGG		0.527	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		12	13	0	0	0	1	0	12	13				
DEFA5	1670	broad.mit.edu	37	8	6913049	6913049	+	Silent	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:6913049G>A	ENST00000330590.2	-	2	225	c.189C>T	c.(187-189)gcC>gcT	p.A63A		NM_021010.1	NP_066290.1	Q01523	DEF5_HUMAN	defensin, alpha 5, Paneth cell-specific	63					antibacterial humoral response (GO:0019731)|defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|secretory granule lumen (GO:0034774)				NS(1)|lung(4)|skin(1)|stomach(1)	7				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		AATAGCAGGTGGCTCTTGCCT	0.557																																						ENST00000330590.2																			0				NS(1)|lung(4)|skin(1)|stomach(1)	7						c.(187-189)gcC>gcT		defensin, alpha 5, Paneth cell-specific							42.0	39.0	40.0					8																	6913049		2203	4300	6503	SO:0001819	synonymous_variant	1670				defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space		g.chr8:6913049G>A	BC069690	CCDS5963.1	8p23.1	2007-02-20			ENSG00000164816	ENSG00000164816		"""Defensins, alpha"""	2764	protein-coding gene	gene with protein product		600472		DEF5		1429669	Standard	NM_021010		Approved	HD-5	uc003wra.1	Q01523	OTTHUMG00000090383	ENST00000330590.2:c.189C>T	8.37:g.6913049G>A							p.A63A	NM_021010.1	NP_066290.1	Q01523	DEF5_HUMAN		COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)	2	225	-			63					A0JDY6|Q3KNV2	Silent	SNP	ENST00000330590.2	37	c.189C>T	CCDS5963.1																																																																																				0.557	DEFA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206755.1	NM_021010		7	16	0	0	0	1	0	7	16				
UGDH	7358	broad.mit.edu	37	4	39507278	39507278	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:39507278T>A	ENST00000316423.6	-	8	1339	c.997A>T	c.(997-999)Att>Ttt	p.I333F	UGDH_ENST00000507089.1_Missense_Mutation_p.I236F|UGDH_ENST00000506179.1_Missense_Mutation_p.I333F|UGDH_ENST00000501493.2_Missense_Mutation_p.I266F	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	333					cellular glucuronidation (GO:0052695)|gastrulation with mouth forming second (GO:0001702)|glycosaminoglycan biosynthetic process (GO:0006024)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|UDP-glucose 6-dehydrogenase activity (GO:0003979)	p.I333V(1)		breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						AATCCCAAAATAGCTATCTTC	0.348																																						ENST00000316423.6																			1	Substitution - Missense(1)	p.I333V(1)	lung(1)	breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						c.(997-999)Att>Ttt		UDP-glucose 6-dehydrogenase	NADH(DB00157)						138.0	144.0	142.0					4																	39507278		2203	4300	6503	SO:0001583	missense	7358				glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity	g.chr4:39507278T>A	AF061016	CCDS3455.1, CCDS54757.1, CCDS54758.1	4p14	2011-11-16	2010-04-28		ENSG00000109814	ENSG00000109814	1.1.1.22		12525	protein-coding gene	gene with protein product		603370	"""UDP-glucose dehydrogenase"""			9737970, 10575217	Standard	NM_003359		Approved		uc003guk.2	O60701	OTTHUMG00000099371	ENST00000316423.6:c.997A>T	4.37:g.39507278T>A	ENSP00000319501:p.Ile333Phe					UGDH_ENST00000507089.1_Missense_Mutation_p.I236F|UGDH_ENST00000506179.1_Missense_Mutation_p.I333F|UGDH_ENST00000501493.2_Missense_Mutation_p.I266F	p.I333F	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN			8	1339	-			333					B3KUU2|B4DN25|O60589	Missense_Mutation	SNP	ENST00000316423.6	37	c.997A>T	CCDS3455.1	.	.	.	.	.	.	.	.	.	.	T	13.75	2.330285	0.41297	.	.	ENSG00000109814	ENST00000316423;ENST00000501493;ENST00000506179;ENST00000507089	T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37	5.01	5.01	0.66863	UDP-glucose/GDP-mannose dehydrogenase, C-terminal (2);NAD(P)-binding domain (1);	0.059230	0.64402	D	0.000004	T	0.81327	0.4799	M	0.79693	2.465	0.58432	D	0.999996	B;B	0.31599	0.33;0.038	B;B	0.35899	0.213;0.076	T	0.81413	-0.0944	10	0.52906	T	0.07	-0.5679	10.1419	0.42740	0.0:0.0:0.1676:0.8323	.	266;333	B3KUU2;O60701	.;UGDH_HUMAN	F	333;266;333;236	ENSP00000319501:I333F;ENSP00000422909:I266F;ENSP00000421757:I333F;ENSP00000426560:I236F	ENSP00000319501:I333F	I	-	1	0	UGDH	39183673	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	4.174000	0.58256	1.887000	0.54652	0.477000	0.44152	ATT		0.348	UGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216818.3	NM_003359		35	141	0	0	0	1	0	35	141				
PTGER3	5733	broad.mit.edu	37	1	71512620	71512620	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:71512620C>A	ENST00000306666.5	-	1	851	c.641G>T	c.(640-642)cGa>cTa	p.R214L	PTGER3_ENST00000356595.4_Missense_Mutation_p.R214L|PTGER3_ENST00000351052.5_Missense_Mutation_p.R214L|PTGER3_ENST00000370931.3_Missense_Mutation_p.R214L|PTGER3_ENST00000460330.1_Missense_Mutation_p.R214L|ZRANB2-AS1_ENST00000450461.1_RNA|PTGER3_ENST00000370932.2_Missense_Mutation_p.R214L|PTGER3_ENST00000414819.1_Missense_Mutation_p.R214L|PTGER3_ENST00000370924.4_Missense_Mutation_p.R214L|PTGER3_ENST00000354608.5_Missense_Mutation_p.R214L	NM_198719.1	NP_942012.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	214					cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of fever generation (GO:0031622)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|prostaglandin E receptor activity (GO:0004957)			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	GTTGCCCCCTCGCCCGGTGCT	0.652																																						ENST00000370924.4																			0				endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(640-642)cGa>cTa		prostaglandin E receptor 3 (subtype EP3)	Bimatoprost(DB00905)						76.0	75.0	75.0					1																	71512620		2203	4300	6503	SO:0001583	missense	5733				cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity	g.chr1:71512620C>A	X83863	CCDS652.1, CCDS655.1, CCDS656.1, CCDS657.1, CCDS658.1	1p31.2	2012-08-08			ENSG00000050628	ENSG00000050628		"""GPCR / Class A : Prostanoid receptors"""	9595	protein-coding gene	gene with protein product		176806				7759114, 9073510	Standard	NM_001126044		Approved	EP3	uc001dfo.3	P43115	OTTHUMG00000009399	ENST00000306666.5:c.641G>T	1.37:g.71512620C>A	ENSP00000302313:p.Arg214Leu					PTGER3_ENST00000351052.5_Missense_Mutation_p.R214L|PTGER3_ENST00000370932.2_Missense_Mutation_p.R214L|PTGER3_ENST00000354608.5_Missense_Mutation_p.R214L|PTGER3_ENST00000414819.1_Missense_Mutation_p.R214L|PTGER3_ENST00000306666.5_Missense_Mutation_p.R214L|PTGER3_ENST00000460330.1_Missense_Mutation_p.R214L|PTGER3_ENST00000356595.4_Missense_Mutation_p.R214L|PTGER3_ENST00000370931.3_Missense_Mutation_p.R214L	p.R214L	NM_198715.2	NP_942008.1	P43115	PE2R3_HUMAN			1	871	-			214					B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Missense_Mutation	SNP	ENST00000306666.5	37	c.641G>T	CCDS657.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.465839	0.26335	.	.	ENSG00000050628	ENST00000370931;ENST00000370932;ENST00000351052;ENST00000460330;ENST00000370934;ENST00000354608;ENST00000356595;ENST00000414819;ENST00000306666;ENST00000370924	T;T;T;T;T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6	5.1	-1.87	0.07737	GPCR, rhodopsin-like superfamily (1);	0.564970	0.19243	N	0.119113	T	0.25568	0.0622	N	0.14661	0.345	0.09310	N	1	B;B;P;B;P;B;B;B	0.36171	0.336;0.036;0.541;0.115;0.485;0.022;0.029;0.008	B;B;B;B;B;B;B;B	0.34489	0.109;0.055;0.184;0.07;0.153;0.015;0.054;0.026	T	0.30179	-0.9987	10	0.30078	T	0.28	4.9558	7.933	0.29914	0.0:0.2308:0.5324:0.2367	.	214;214;214;214;214;214;214;214	Q147U0;Q6TTN3;F5H821;B1AK19;Q147X8;P43115-3;P43115-4;P43115	.;.;.;.;.;.;.;PE2R3_HUMAN	L	214	ENSP00000359969:R214L;ENSP00000359970:R214L;ENSP00000280208:R214L;ENSP00000418073:R214L;ENSP00000346624:R214L;ENSP00000349003:R214L;ENSP00000401423:R214L;ENSP00000302313:R214L;ENSP00000359962:R214L	ENSP00000302313:R214L	R	-	2	0	PTGER3	71285208	0.000000	0.05858	0.010000	0.14722	0.940000	0.58332	0.232000	0.17891	-0.172000	0.10779	-0.502000	0.04539	CGA		0.652	PTGER3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026076.1	NM_000957		21	85	1	0	2.89027e-11	1	3.66988e-11	21	85				
ZNF287	57336	broad.mit.edu	37	17	16455957	16455957	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:16455957C>G	ENST00000395824.1	-	6	2116	c.1499G>C	c.(1498-1500)aGa>aCa	p.R500T	ZNF287_ENST00000395825.3_Missense_Mutation_p.R500T			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	493					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|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(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		AGTATGAACTCTCTGATGATT	0.373																																						ENST00000395824.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20						c.(1498-1500)aGa>aCa		zinc finger protein 287							129.0	125.0	126.0					17																	16455957		2203	4300	6503	SO:0001583	missense	57336				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:16455957C>G	AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13502	protein-coding gene	gene with protein product							Standard	NM_020653		Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.1499G>C	17.37:g.16455957C>G	ENSP00000379168:p.Arg500Thr					ZNF287_ENST00000395825.3_Missense_Mutation_p.R500T	p.R500T			Q9HBT7	ZN287_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.083)	6	2116	-			493					Q6IAG1	Missense_Mutation	SNP	ENST00000395824.1	37	c.1499G>C	CCDS11179.2	.	.	.	.	.	.	.	.	.	.	C	15.91	2.972696	0.53614	.	.	ENSG00000141040	ENST00000395825;ENST00000395824	T;T	0.25414	1.8;1.8	5.18	5.18	0.71444	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000016	T	0.49490	0.1560	M	0.62154	1.92	0.45822	D	0.998696	D	0.89917	1.0	D	0.97110	1.0	T	0.46048	-0.9219	10	0.87932	D	0	.	16.6061	0.84830	0.0:1.0:0.0:0.0	.	493	Q9HBT7	ZN287_HUMAN	T	500	ENSP00000379169:R500T;ENSP00000379168:R500T	ENSP00000379168:R500T	R	-	2	0	ZNF287	16396682	0.013000	0.17824	1.000000	0.80357	0.366000	0.29705	2.085000	0.41634	2.873000	0.98535	0.561000	0.74099	AGA		0.373	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130504.1			48	160	0	0	0	1	0	48	160				
SLC4A3	6508	broad.mit.edu	37	2	220494070	220494070	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:220494070A>T	ENST00000358055.3	+	4	934	c.422A>T	c.(421-423)gAg>gTg	p.E141V	SLC4A3_ENST00000317151.3_Missense_Mutation_p.E141V|AC009955.8_ENST00000455896.1_RNA|SLC4A3_ENST00000373762.3_Missense_Mutation_p.E141V|SLC4A3_ENST00000373760.2_Missense_Mutation_p.E141V|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000273063.6_Missense_Mutation_p.E141V			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	141	Poly-Glu.				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		gaggaggaagaggaggaagag	0.607																																						ENST00000358055.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51						c.(421-423)gAg>gTg		solute carrier family 4 (anion exchanger), member 3							25.0	31.0	29.0					2																	220494070		2202	4299	6501	SO:0001583	missense	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220494070A>T		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.422A>T	2.37:g.220494070A>T	ENSP00000350756:p.Glu141Val					SLC4A3_ENST00000373760.2_Missense_Mutation_p.E141V|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000273063.6_Missense_Mutation_p.E141V|SLC4A3_ENST00000317151.3_Missense_Mutation_p.E141V|SLC4A3_ENST00000373762.3_Missense_Mutation_p.E141V	p.E141V			P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	934	+		Renal(207;0.0183)	141			Poly-Glu.		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	c.422A>T	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	A	14.30	2.494087	0.44352	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44	4.87	4.87	0.63330	.	0.640860	0.15678	N	0.250061	T	0.34366	0.0895	L	0.54323	1.7	0.39182	D	0.962806	P;D	0.58268	0.917;0.982	B;P	0.48227	0.368;0.571	T	0.20472	-1.0274	10	0.49607	T	0.09	.	8.3071	0.32049	0.9101:0.0:0.0899:0.0	.	141;141	P48751;P48751-3	B3A3_HUMAN;.	V	141	ENSP00000350756:E141V;ENSP00000362865:E141V;ENSP00000273063:E141V;ENSP00000362867:E141V;ENSP00000314006:E141V	ENSP00000273063:E141V	E	+	2	0	SLC4A3	220202314	0.997000	0.39634	0.903000	0.35520	0.867000	0.49689	4.119000	0.57891	2.031000	0.59945	0.379000	0.24179	GAG		0.607	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		6	22	0	0	0	1	0	6	22				
ADAM21	8747	broad.mit.edu	37	14	70925127	70925127	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr14:70925127T>C	ENST00000603540.1	+	2	1169	c.911T>C	c.(910-912)aTa>aCa	p.I304T	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.I304T	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	304	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AATTCACTTATAAGTATACTT	0.393																																						ENST00000603540.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31						c.(910-912)aTa>aCa		ADAM metallopeptidase domain 21							109.0	110.0	109.0					14																	70925127		2203	4300	6503	SO:0001583	missense	8747				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70925127T>C	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.911T>C	14.37:g.70925127T>C	ENSP00000474385:p.Ile304Thr					RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.I304T	p.I304T	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN		all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	1169	+			304			Peptidase M12B.		O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	ENST00000603540.1	37	c.911T>C	CCDS9804.1	.	.	.	.	.	.	.	.	.	.	T	1.057	-0.674087	0.03378	.	.	ENSG00000139985	ENST00000267499	T	0.09073	3.02	4.36	1.92	0.25849	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.865950	0.09741	N	0.761848	T	0.06096	0.0158	N	0.17872	0.535	0.25363	N	0.988766	B	0.25772	0.134	B	0.38755	0.281	T	0.50550	-0.8815	10	0.15066	T	0.55	.	1.1307	0.01744	0.1781:0.1066:0.2401:0.4752	.	304	Q9UKJ8	ADA21_HUMAN	T	304	ENSP00000267499:I304T	ENSP00000267499:I304T	I	+	2	0	ADAM21	69994880	0.005000	0.15991	0.387000	0.26183	0.684000	0.39900	1.322000	0.33689	0.768000	0.33290	0.455000	0.32223	ATA		0.393	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			64	195	0	0	0	1	0	64	195				
BAG5	9529	broad.mit.edu	37	14	104028376	104028376	+	Intron	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr14:104028376C>T	ENST00000445922.2	-	1	219				APOPT1_ENST00000556253.2_5'Flank|RP11-894P9.2_ENST00000556332.1_RNA|APOPT1_ENST00000247618.4_5'Flank|RP11-73M18.2_ENST00000472726.2_5'Flank|BAG5_ENST00000337322.4_De_novo_Start_OutOfFrame|APOPT1_ENST00000409074.2_5'Flank|BAG5_ENST00000299204.4_Intron	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5						negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein refolding (GO:0061084)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron death (GO:0070997)|protein folding (GO:0006457)|regulation of inclusion body assembly (GO:0090083)	inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chaperone binding (GO:0051087)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			CTGGAGGCCACGGAGGGAAGG	0.572																																					NSCLC(171;1832 2055 18950 31566 41632)	ENST00000337322.4																			0				endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24								BCL2-associated athanogene 5							48.0	50.0	50.0					14																	104028376		2007	4166	6173	SO:0001627	intron_variant	9529				apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly	inclusion body|perinuclear region of cytoplasm	chaperone binding|ubiquitin protein ligase binding	g.chr14:104028376C>T	AF095195	CCDS9982.1, CCDS41995.1	14q32	2008-08-01				ENSG00000166170			941	protein-coding gene	gene with protein product		603885				9873016, 15603737	Standard	NM_001015048		Approved		uc001ynh.2	Q9UL15		ENST00000445922.2:c.27+60G>A	14.37:g.104028376C>T						BAG5_ENST00000299204.4_Intron|BAG5_ENST00000445922.2_Intron		NM_001015049.2	NP_001015049.1	Q9UL15	BAG5_HUMAN	Epithelial(46;0.144)		0	259	-		Melanoma(154;0.155)						O94950|Q86W59	Translation_Start_Site	SNP	ENST00000445922.2	37		CCDS9982.1																																																																																				0.572	BAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414990.1			13	42	0	0	0	1	0	13	42				
TACC2	10579	broad.mit.edu	37	10	123970575	123970575	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:123970575G>T	ENST00000369005.1	+	9	6975	c.6635G>T	c.(6634-6636)gGg>gTg	p.G2212V	TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000358010.1_Missense_Mutation_p.G358V|TACC2_ENST00000513429.1_Missense_Mutation_p.G358V|TACC2_ENST00000369004.3_Missense_Mutation_p.G290V|TACC2_ENST00000360561.3_Missense_Mutation_p.G290V|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000334433.3_Missense_Mutation_p.G2212V|TACC2_ENST00000260733.3_Missense_Mutation_p.G290V|TACC2_ENST00000515603.1_Missense_Mutation_p.G2167V|TACC2_ENST00000515273.1_Missense_Mutation_p.G2216V|TACC2_ENST00000368999.1_Missense_Mutation_p.G290V|TACC2_ENST00000453444.2_Missense_Mutation_p.G2216V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2212					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGTGCAGAAGGGGTTGTCCCC	0.642																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(6634-6636)gGg>gTg		transforming, acidic coiled-coil containing protein 2							30.0	38.0	35.0					10																	123970575		2199	4300	6499	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123970575G>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.6635G>T	10.37:g.123970575G>T	ENSP00000358001:p.Gly2212Val					TACC2_ENST00000369004.3_Missense_Mutation_p.G290V|TACC2_ENST00000334433.3_Missense_Mutation_p.G2212V|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000515603.1_Missense_Mutation_p.G2167V|TACC2_ENST00000358010.1_Missense_Mutation_p.G358V|TACC2_ENST00000360561.3_Missense_Mutation_p.G290V|TACC2_ENST00000453444.2_Missense_Mutation_p.G2216V|TACC2_ENST00000515273.1_Missense_Mutation_p.G2216V|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000260733.3_Missense_Mutation_p.G290V|TACC2_ENST00000513429.1_Missense_Mutation_p.G358V|TACC2_ENST00000368999.1_Missense_Mutation_p.G290V	p.G2212V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			9	6975	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2212					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.6635G>T	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.697358	0.30142	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733;ENST00000514539;ENST00000505639	T;T;T;T;T;T;T;T;T;T;T;T;T	0.20332	4.0;3.56;4.04;4.06;4.0;3.56;4.04;3.44;3.51;3.51;3.45;3.02;2.08	5.54	2.16	0.27623	.	0.464806	0.16141	N	0.227720	T	0.32133	0.0819	L	0.50919	1.6	0.38852	D	0.956294	D;D;P;D;D;D;D;D;D	0.76494	0.985;0.995;0.93;0.995;0.995;0.959;0.959;0.976;0.999	P;D;P;P;D;P;P;P;D	0.64877	0.742;0.93;0.513;0.899;0.93;0.707;0.707;0.799;0.925	T	0.04930	-1.0917	10	0.29301	T	0.29	-6.6203	7.7345	0.28806	0.3849:0.0:0.6151:0.0	.	307;2216;290;2167;2216;290;290;358;2212	E9PGB3;E9PBC6;D6RAA5;E7EMZ9;B7ZMJ9;O95359-6;O95359-1;O95359-5;O95359	.;.;.;.;.;.;.;.;TACC2_HUMAN	V	2212;358;2216;2167;2212;358;2216;2202;290;290;290;290;307;53	ENSP00000358001:G2212V;ENSP00000425062:G358V;ENSP00000424467:G2216V;ENSP00000427618:G2167V;ENSP00000334280:G2212V;ENSP00000350701:G358V;ENSP00000395048:G2216V;ENSP00000353763:G290V;ENSP00000357995:G290V;ENSP00000422815:G290V;ENSP00000260733:G290V;ENSP00000420967:G307V;ENSP00000426303:G53V	ENSP00000260733:G290V	G	+	2	0	TACC2	123960565	1.000000	0.71417	0.043000	0.18650	0.178000	0.23041	1.755000	0.38379	0.132000	0.18615	0.655000	0.94253	GGG		0.642	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			17	65	1	0	1.5739e-10	1	1.97248e-10	17	65				
NRXN1	9378	broad.mit.edu	37	2	50573846	50573846	+	Intron	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:50573846G>A	ENST00000406316.2	-	18	4841				NRXN1_ENST00000401669.2_Intron|NRXN1_ENST00000402717.3_Intron|NRXN1_ENST00000405472.3_Intron|NRXN1_ENST00000404971.1_Intron|NRXN1_ENST00000406859.3_Intron|NRXN1_ENST00000331040.5_Intron|NRXN1_ENST00000401710.1_Intron|NRXN1_ENST00000342183.5_Missense_Mutation_p.S81F	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1						adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCCTCGCAAGGATGCCGGTGA	0.602																																						ENST00000342183.5																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(241-243)tCc>tTc		neurexin 1							91.0	72.0	78.0					2																	50573846		2203	4300	6503	SO:0001627	intron_variant	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50573846G>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.3365-109738C>T	2.37:g.50573846G>A						NRXN1_ENST00000404971.1_Intron|NRXN1_ENST00000405472.3_Intron|NRXN1_ENST00000402717.3_Intron|NRXN1_ENST00000406316.2_Intron|NRXN1_ENST00000401669.2_Intron|NRXN1_ENST00000401710.1_Intron|NRXN1_ENST00000406859.3_Intron|NRXN1_ENST00000331040.5_Intron	p.S81F	NM_138735.2	NP_620072.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		1	1046	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	0			Laminin G-like 1.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.242C>T	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.429786	0.43122	.	.	ENSG00000179915	ENST00000342183;ENST00000536347	T	0.45668	0.89	5.05	5.05	0.67936	.	.	.	.	.	T	0.34193	0.0889	N	0.20986	0.625	0.80722	D	1	B	0.14012	0.009	B	0.12837	0.008	T	0.12066	-1.0562	9	0.56958	D	0.05	.	18.3881	0.90473	0.0:0.0:1.0:0.0	.	81	P58400	NRX1B_HUMAN	F	81;35	ENSP00000341184:S81F	ENSP00000341184:S81F	S	-	2	0	NRXN1	50427350	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.210000	0.89753	2.366000	0.80165	0.462000	0.41574	TCC		0.602	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			18	32	0	0	0	1	0	18	32				
BAI1	575	broad.mit.edu	37	8	143603354	143603354	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:143603354T>C	ENST00000517894.1	+	21	3947	c.3053T>C	c.(3052-3054)cTg>cCg	p.L1018P	BAI1_ENST00000323289.5_Missense_Mutation_p.L1018P			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1018					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GCCGCCTTCCTGCACTTCTTC	0.687																																						ENST00000517894.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57						c.(3052-3054)cTg>cCg		brain-specific angiogenesis inhibitor 1							36.0	44.0	41.0					8																	143603354		2198	4297	6495	SO:0001583	missense	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143603354T>C	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.3053T>C	8.37:g.143603354T>C	ENSP00000430945:p.Leu1018Pro					BAI1_ENST00000323289.5_Missense_Mutation_p.L1018P	p.L1018P			O14514	BAI1_HUMAN			21	3947	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		1018						Missense_Mutation	SNP	ENST00000517894.1	37	c.3053T>C		.	.	.	.	.	.	.	.	.	.	T	19.08	3.757713	0.69648	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.54279	0.58;0.58	3.5	3.5	0.40072	.	0.376195	0.21040	U	0.081193	T	0.73837	0.3638	H	0.94542	3.55	0.80722	D	1	P	0.43885	0.82	P	0.54210	0.745	T	0.79688	-0.1699	10	0.87932	D	0	.	11.1951	0.48709	0.0:0.0:0.0:1.0	.	1018	E9PBK0	.	P	1018	ENSP00000430945:L1018P;ENSP00000313046:L1018P	ENSP00000313046:L1018P	L	+	2	0	BAI1	143600356	1.000000	0.71417	0.998000	0.56505	0.829000	0.46940	7.769000	0.85360	1.218000	0.43458	0.254000	0.18369	CTG		0.687	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		16	14	0	0	0	1	0	16	14				
OR10G9	219870	broad.mit.edu	37	11	123894530	123894530	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:123894530G>A	ENST00000375024.1	+	1	811	c.811G>A	c.(811-813)Gtg>Atg	p.V271M		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	271						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(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGATGGAGTTGTGGCCATTTT	0.498																																						ENST00000375024.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61						c.(811-813)Gtg>Atg		olfactory receptor, family 10, subfamily G, member 9							153.0	139.0	144.0					11																	123894530		2201	4299	6500	SO:0001583	missense	219870				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123894530G>A	AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"""GPCR / Class A : Olfactory receptors"""	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.811G>A	11.37:g.123894530G>A	ENSP00000364164:p.Val271Met						p.V271M	NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	811	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	271						Missense_Mutation	SNP	ENST00000375024.1	37	c.811G>A	CCDS31703.1	.	.	.	.	.	.	.	.	.	.	G	7.771	0.707553	0.15239	.	.	ENSG00000236981	ENST00000375024	T	0.40756	1.02	3.39	3.39	0.38822	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35870	N	0.002925	T	0.50786	0.1636	L	0.52126	1.63	0.09310	N	1	D	0.67145	0.996	D	0.76575	0.988	T	0.35649	-0.9780	10	0.87932	D	0	.	4.3185	0.11005	0.1202:0.0:0.6517:0.2281	.	271	Q8NGN4	O10G9_HUMAN	M	271	ENSP00000364164:V271M	ENSP00000364164:V271M	V	+	1	0	OR10G9	123399740	0.000000	0.05858	0.446000	0.26920	0.086000	0.17979	0.004000	0.13106	1.889000	0.54706	0.591000	0.81541	GTG		0.498	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387269.1	NM_001001953		28	132	0	0	0	1	0	28	132				
CHD5	26038	broad.mit.edu	37	1	6195444	6195444	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:6195444C>A	ENST00000262450.3	-	18	2815	c.2716G>T	c.(2716-2718)Gag>Tag	p.E906*	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GCAAACTCCTCCAGGAAGCCC	0.587																																						ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(2716-2718)Gag>Tag		chromodomain helicase DNA binding protein 5							50.0	50.0	50.0					1																	6195444		2203	4300	6503	SO:0001587	stop_gained	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6195444C>A	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.2716G>T	1.37:g.6195444C>A	ENSP00000262450:p.Glu906*					CHD5_ENST00000378021.1_5'UTR	p.E906*	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	18	2815	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	906					A8KAP8|A8MQ44|D3DSH9|O60740	Nonsense_Mutation	SNP	ENST00000262450.3	37	c.2716G>T	CCDS57.1	.	.	.	.	.	.	.	.	.	.	C	39	7.683900	0.98431	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	.	.	.	4.8	4.8	0.61643	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-42.031	18.2357	0.89948	0.0:1.0:0.0:0.0	.	.	.	.	X	906;422;314;314	.	ENSP00000262450:E906X	E	-	1	0	CHD5	6118031	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.637000	0.83313	2.392000	0.81423	0.561000	0.74099	GAG		0.587	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		16	74	1	0	1.15088e-07	1	1.34211e-07	16	74				
ENPEP	2028	broad.mit.edu	37	4	111431425	111431425	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:111431425G>C	ENST00000265162.5	+	6	1561	c.1219G>C	c.(1219-1221)Gac>Cac	p.D407H	RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	407					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		TGTGACCATGGACTGGTGGGA	0.378																																						ENST00000265162.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(1219-1221)Gac>Cac		glutamyl aminopeptidase (aminopeptidase A)	L-Glutamic Acid(DB00142)						233.0	234.0	234.0					4																	111431425		2203	4300	6503	SO:0001583	missense	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111431425G>C	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.1219G>C	4.37:g.111431425G>C	ENSP00000265162:p.Asp407His						p.D407H	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	6	1561	+		Hepatocellular(203;0.217)	407					Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.1219G>C	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.120653	0.56613	.	.	ENSG00000138792	ENST00000265162	T	0.05717	3.4	5.4	5.4	0.78164	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.169309	0.64402	D	0.000006	T	0.23649	0.0572	M	0.64260	1.97	0.80722	D	1	D	0.76494	0.999	D	0.69307	0.963	T	0.00140	-1.2000	10	0.56958	D	0.05	.	19.1557	0.93509	0.0:0.0:1.0:0.0	.	407	Q07075	AMPE_HUMAN	H	407	ENSP00000265162:D407H	ENSP00000265162:D407H	D	+	1	0	ENPEP	111650874	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.563000	0.73964	2.522000	0.85027	0.650000	0.86243	GAC		0.378	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			22	101	0	0	0	1	0	22	101				
UBN1	29855	broad.mit.edu	37	16	4925364	4925364	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr16:4925364G>T	ENST00000396658.4	+	14	3656	c.2953G>T	c.(2953-2955)Gca>Tca	p.A985S	UBN1_ENST00000262376.6_Missense_Mutation_p.A985S|UBN1_ENST00000545171.1_Missense_Mutation_p.A985S|UBN1_ENST00000590769.1_Missense_Mutation_p.A985S	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	985	Ser-rich.				chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						CCAGGGAGTGGCAAAGTTGCT	0.542																																						ENST00000396658.4																			0				NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(2953-2955)Gca>Tca		ubinuclein 1							69.0	75.0	73.0					16																	4925364		2197	4300	6497	SO:0001583	missense	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4925364G>T	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.2953G>T	16.37:g.4925364G>T	ENSP00000379894:p.Ala985Ser					UBN1_ENST00000545171.1_Missense_Mutation_p.A985S|UBN1_ENST00000590769.1_Missense_Mutation_p.A985S|UBN1_ENST00000262376.6_Missense_Mutation_p.A985S	p.A985S	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN			14	3656	+			985			Ser-rich.		B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	ENST00000396658.4	37	c.2953G>T	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332860	0.81801	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.57752	1.19;0.38;1.19	5.55	4.59	0.56863	.	0.000000	0.64402	D	0.000002	T	0.57989	0.2091	L	0.60455	1.87	0.35222	D	0.776092	D;D	0.57571	0.98;0.966	P;P	0.52514	0.701;0.505	T	0.67177	-0.5736	10	0.31617	T	0.26	-12.67	12.717	0.57121	0.0755:0.0:0.9245:0.0	.	985;985	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	S	985	ENSP00000262376:A985S;ENSP00000442379:A985S;ENSP00000379894:A985S	ENSP00000262376:A985S	A	+	1	0	UBN1	4865365	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.971000	0.76105	1.575000	0.49775	0.655000	0.94253	GCA		0.542	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		66	93	1	0	8.52622e-23	1	1.26097e-22	66	93				
LCE5A	254910	broad.mit.edu	37	1	152484057	152484057	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:152484057G>A	ENST00000334269.2	+	2	223	c.47G>A	c.(46-48)tGt>tAt	p.C16Y	CRCT1_ENST00000368790.3_5'Flank	NM_178438.4	NP_848525.1	Q5TCM9	LCE5A_HUMAN	late cornified envelope 5A	16	Cys-rich.				keratinization (GO:0031424)					lung(3)|ovary(1)|prostate(3)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCCCAAATGTACCCCTAAA	0.542																																						ENST00000334269.2																			0				lung(3)|ovary(1)|prostate(3)	7						c.(46-48)tGt>tAt		late cornified envelope 5A							89.0	84.0	86.0					1																	152484057		2203	4300	6503	SO:0001583	missense	254910				keratinization			g.chr1:152484057G>A	BI670518	CCDS1011.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000186207	ENSG00000186207		"""Late cornified envelopes"""	16614	protein-coding gene	gene with protein product		612619	"""small proline rich-like (epidermal differentiation complex) 5A"""	SPRL5A		11698679	Standard	NM_178438		Approved	LEP18	uc001ezy.3	Q5TCM9	OTTHUMG00000014401	ENST00000334269.2:c.47G>A	1.37:g.152484057G>A	ENSP00000333952:p.Cys16Tyr						p.C16Y	NM_178438.4	NP_848525.1	Q5TCM9	LCE5A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	223	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		16			Cys-rich.			Missense_Mutation	SNP	ENST00000334269.2	37	c.47G>A	CCDS1011.1	.	.	.	.	.	.	.	.	.	.	G	6.810	0.518538	0.13005	.	.	ENSG00000186207	ENST00000334269	T	0.09723	2.95	5.28	4.34	0.51931	.	.	.	.	.	T	0.19846	0.0477	M	0.87682	2.9	0.26045	N	0.98156	D	0.64830	0.994	P	0.58331	0.837	T	0.08126	-1.0737	9	0.87932	D	0	-10.2556	11.5625	0.50785	0.0:0.1796:0.8204:0.0	.	16	Q5TCM9	LCE5A_HUMAN	Y	16	ENSP00000333952:C16Y	ENSP00000333952:C16Y	C	+	2	0	LCE5A	150750681	0.966000	0.33281	0.799000	0.32177	0.423000	0.31445	1.887000	0.39698	1.396000	0.46663	0.603000	0.83216	TGT		0.542	LCE5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040059.1	NM_178438		33	71	0	0	0	1	0	33	71				
SRGAP1	57522	broad.mit.edu	37	12	64472756	64472756	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:64472756G>T	ENST00000355086.3	+	9	1707	c.1183G>T	c.(1183-1185)Gac>Tac	p.D395Y	SRGAP1_ENST00000357825.3_Missense_Mutation_p.D395Y|RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000543397.1_Missense_Mutation_p.D355Y	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	395	F-BAR domain.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CACCATCGAGGACTATGATGT	0.433																																						ENST00000355086.3																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65						c.(1183-1185)Gac>Tac		SLIT-ROBO Rho GTPase activating protein 1							118.0	97.0	104.0					12																	64472756		2203	4300	6503	SO:0001583	missense	57522				axon guidance	cytosol		g.chr12:64472756G>T	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.1183G>T	12.37:g.64472756G>T	ENSP00000347198:p.Asp395Tyr					SRGAP1_ENST00000357825.3_Missense_Mutation_p.D395Y|RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000543397.1_Missense_Mutation_p.D355Y	p.D395Y	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	9	1707	+			395					Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	c.1183G>T	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.695577	0.88830	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.54279	0.58;0.58;0.58	4.26	4.26	0.50523	.	0.000000	0.36815	U	0.002397	T	0.70718	0.3256	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.993;0.999;0.998	T	0.71111	-0.4687	9	.	.	.	.	17.9947	0.89179	0.0:0.0:1.0:0.0	.	395;355;395	Q7Z6B7;G5EA48;Q7Z6B7-2	SRGP1_HUMAN;.;.	Y	395;395;355	ENSP00000347198:D395Y;ENSP00000350480:D395Y;ENSP00000437948:D355Y	.	D	+	1	0	SRGAP1	62759023	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.515000	0.98015	2.653000	0.90120	0.462000	0.41574	GAC		0.433	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			18	71	1	0	5.35267e-07	1	6.15836e-07	18	71				
ARHGEF40	55701	broad.mit.edu	37	14	21542699	21542699	+	Silent	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr14:21542699G>T	ENST00000298694.4	+	3	937	c.810G>T	c.(808-810)acG>acT	p.T270T	ARHGEF40_ENST00000298693.3_Silent_p.T270T			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	270						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						GAGTCCGGACGGTACCCACCC	0.687																																						ENST00000298694.4																			0				large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						c.(808-810)acG>acT		Rho guanine nucleotide exchange factor (GEF) 40							13.0	18.0	16.0					14																	21542699		2165	4278	6443	SO:0001819	synonymous_variant	55701				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr14:21542699G>T		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"""Rho guanine nucleotide exchange factors"""	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.810G>T	14.37:g.21542699G>T						ARHGEF40_ENST00000298693.3_Silent_p.T270T	p.T270T			Q8TER5	ARH40_HUMAN			3	937	+			270					A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Silent	SNP	ENST00000298694.4	37	c.810G>T	CCDS32041.1																																																																																				0.687	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			5	12	1	0	0.0215528	1	0.0218643	5	12				
STARD13	90627	broad.mit.edu	37	13	33703645	33703645	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr13:33703645T>A	ENST00000336934.5	-	5	1285	c.1169A>T	c.(1168-1170)cAa>cTa	p.Q390L	STARD13_ENST00000399365.3_Missense_Mutation_p.Q272L|STARD13_ENST00000255486.4_Missense_Mutation_p.Q382L	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	390					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CAAATTCTCTTGGGAGTGAAA	0.522																																						ENST00000336934.5																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40						c.(1168-1170)cAa>cTa		StAR-related lipid transfer (START) domain containing 13							65.0	68.0	67.0					13																	33703645		2203	4300	6503	SO:0001583	missense	90627				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	g.chr13:33703645T>A	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.1169A>T	13.37:g.33703645T>A	ENSP00000338785:p.Gln390Leu					STARD13_ENST00000255486.4_Missense_Mutation_p.Q382L|STARD13_ENST00000399365.3_Missense_Mutation_p.Q272L	p.Q390L	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)	5	1285	-	all_epithelial(80;0.155)	Lung SC(185;0.0367)	390					A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Missense_Mutation	SNP	ENST00000336934.5	37	c.1169A>T	CCDS9348.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.021375	0.75275	.	.	ENSG00000133121	ENST00000399365;ENST00000255486;ENST00000336934;ENST00000399364	T;T;T	0.06371	3.31;3.31;3.32	5.82	5.82	0.92795	.	0.108239	0.64402	D	0.000004	T	0.11024	0.0269	M	0.70595	2.14	0.80722	D	1	P;B;B;P	0.45902	0.865;0.217;0.138;0.868	B;B;B;B	0.43103	0.341;0.138;0.065;0.408	T	0.22695	-1.0209	10	0.09338	T	0.73	.	16.1832	0.81925	0.0:0.0:0.0:1.0	.	382;355;390;382	Q9Y3M8-5;Q9Y3M8-4;Q9Y3M8;Q9Y3M8-2	.;.;STA13_HUMAN;.	L	272;382;390;382	ENSP00000382300:Q272L;ENSP00000255486:Q382L;ENSP00000338785:Q390L	ENSP00000255486:Q382L	Q	-	2	0	STARD13	32601645	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.806000	0.62569	2.218000	0.71995	0.533000	0.62120	CAA		0.522	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466		30	58	0	0	0	1	0	30	58				
ZNF18	7566	broad.mit.edu	37	17	11894356	11894356	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:11894356G>C	ENST00000322748.3	-	5	1116	c.512C>G	c.(511-513)tCc>tGc	p.S171C	ZNF18_ENST00000580306.2_Missense_Mutation_p.S171C|ZNF18_ENST00000454073.3_Missense_Mutation_p.S171C	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	171					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		AGGCCCTGAGGATGAATTCTC	0.522																																						ENST00000322748.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14						c.(511-513)tCc>tGc		zinc finger protein 18							216.0	212.0	213.0					17																	11894356		2203	4300	6503	SO:0001583	missense	7566				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:11894356G>C	X52342	CCDS32568.1	17p12	2013-01-09	2006-05-10		ENSG00000154957	ENSG00000154957		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12969	protein-coding gene	gene with protein product		194524	"""zinc finger protein 18 (KOX 11)"""			15702252	Standard	XM_005256786		Approved	ZKSCAN6, KOX11, HDSG1, Zfp535, ZNF535, ZSCAN38	uc002gng.1	P17022	OTTHUMG00000178307	ENST00000322748.3:c.512C>G	17.37:g.11894356G>C	ENSP00000315664:p.Ser171Cys					ZNF18_ENST00000580306.1_Missense_Mutation_p.S171C|ZNF18_ENST00000580613.1_Missense_Mutation_p.S120C|ZNF18_ENST00000454073.3_Missense_Mutation_p.S171C	p.S171C	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN		Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)	5	1116	-			171					Q5QHQ3|Q8IYC4|Q8NAH6	Missense_Mutation	SNP	ENST00000322748.3	37	c.512C>G	CCDS32568.1	.	.	.	.	.	.	.	.	.	.	G	8.723	0.914817	0.17907	.	.	ENSG00000154957	ENST00000454073;ENST00000322748	T;T	0.07567	3.21;3.18	5.58	4.56	0.56223	.	0.767609	0.11520	N	0.555760	T	0.08714	0.0216	N	0.14661	0.345	0.09310	N	1	B;B	0.31351	0.32;0.289	B;B	0.40285	0.325;0.137	T	0.35025	-0.9805	10	0.48119	T	0.1	-1.4031	12.326	0.55011	0.0:0.0:0.8316:0.1684	.	171;171	P17022-2;P17022	.;ZNF18_HUMAN	C	171	ENSP00000391376:S171C;ENSP00000315664:S171C	ENSP00000315664:S171C	S	-	2	0	ZNF18	11835081	0.016000	0.18221	0.007000	0.13788	0.003000	0.03518	2.138000	0.42140	2.782000	0.95742	0.655000	0.94253	TCC		0.522	ZNF18-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441450.2	XM_085596		72	338	0	0	0	1	0	72	338				
KIF13A	63971	broad.mit.edu	37	6	17790142	17790142	+	Splice_Site	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:17790142C>A	ENST00000259711.6	-	26	3328		c.e26-1		KIF13A_ENST00000378816.5_Splice_Site|KIF13A_ENST00000378826.2_Splice_Site|KIF13A_ENST00000378843.2_Intron|KIF13A_ENST00000378814.5_Intron	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A						ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CATCATCTCTCTGGTAGGAAA	0.383																																						ENST00000259711.6																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.e26-1		kinesin family member 13A							90.0	85.0	87.0					6																	17790142		1930	4140	6070	SO:0001630	splice_region_variant	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17790142C>A	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.3223-1G>T	6.37:g.17790142C>A						KIF13A_ENST00000378816.5_Splice_Site|KIF13A_ENST00000378843.2_Intron|KIF13A_ENST00000378826.2_Splice_Site|KIF13A_ENST00000378814.5_Intron		NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		26	3328	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)						A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Splice_Site	SNP	ENST00000259711.6	37		CCDS47381.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361244	0.82353	.	.	ENSG00000137177	ENST00000259711;ENST00000378826;ENST00000378816;ENST00000358380	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9394	0.92600	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIF13A	17898121	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.294000	0.78760	2.561000	0.86390	0.655000	0.94253	.		0.383	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4		Intron	17	24	1	0	3.52763e-06	1	3.97567e-06	17	24				
DIDO1	11083	broad.mit.edu	37	20	61542307	61542307	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr20:61542307C>T	ENST00000266070.4	-	3	983	c.658G>A	c.(658-660)Gag>Aag	p.E220K	DIDO1_ENST00000395343.1_Missense_Mutation_p.E220K|DIDO1_ENST00000370371.4_Missense_Mutation_p.E220K|DIDO1_ENST00000370368.1_Missense_Mutation_p.E220K|DIDO1_ENST00000395335.2_Missense_Mutation_p.E220K|DIDO1_ENST00000354665.4_Missense_Mutation_p.E220K|DIDO1_ENST00000370366.1_Missense_Mutation_p.E220K|DIDO1_ENST00000266071.5_Missense_Mutation_p.E220K|DIDO1_ENST00000395340.1_Missense_Mutation_p.E220K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	220					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)					TGATCGTTCTCGGGCTCCTGC	0.622																																					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.(658-660)Gag>Aag		death inducer-obliterator 1							76.0	80.0	79.0					20																	61542307		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61542307C>T	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.658G>A	20.37:g.61542307C>T	ENSP00000266070:p.Glu220Lys					DIDO1_ENST00000395343.1_Missense_Mutation_p.E220K|DIDO1_ENST00000395340.1_Missense_Mutation_p.E220K|DIDO1_ENST00000266071.5_Missense_Mutation_p.E220K|DIDO1_ENST00000395335.2_Missense_Mutation_p.E220K|DIDO1_ENST00000370368.1_Missense_Mutation_p.E220K|DIDO1_ENST00000370371.4_Missense_Mutation_p.E220K|DIDO1_ENST00000370366.1_Missense_Mutation_p.E220K|DIDO1_ENST00000354665.4_Missense_Mutation_p.E220K	p.E220K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			3	983	-	Breast(26;5.68e-08)		220					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.658G>A	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.738098	0.49045	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335;ENST00000370371;ENST00000370368;ENST00000354665;ENST00000370366;ENST00000266071	T;T;T;T;T;T;T;T;T	0.18502	3.46;3.46;2.73;2.73;2.21;2.21;2.21;2.23;2.23	5.59	3.66	0.41972	.	1.541090	0.04564	U	0.392027	T	0.19406	0.0466	L	0.46157	1.445	0.21675	N	0.999592	B;B;B;B	0.21309	0.054;0.054;0.054;0.032	B;B;B;B	0.14578	0.011;0.011;0.004;0.007	T	0.21621	-1.0240	10	0.54805	T	0.06	-20.0576	9.0989	0.36656	0.0:0.7808:0.0:0.2192	.	220;220;220;220	Q9BTC0-2;Q9BTC0-3;Q9BTC0-1;Q9BTC0	.;.;.;DIDO1_HUMAN	K	220	ENSP00000266070:E220K;ENSP00000378752:E220K;ENSP00000378749:E220K;ENSP00000378744:E220K;ENSP00000359397:E220K;ENSP00000359394:E220K;ENSP00000346692:E220K;ENSP00000359391:E220K;ENSP00000266071:E220K	ENSP00000266070:E220K	E	-	1	0	DIDO1	61012752	0.202000	0.23423	0.035000	0.18076	0.212000	0.24457	2.721000	0.47260	1.355000	0.45865	0.561000	0.74099	GAG		0.622	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		30	101	0	0	0	1	0	30	101				
DNAJC6	9829	broad.mit.edu	37	1	65858302	65858302	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:65858302G>T	ENST00000395325.3	+	12	1643	c.1486G>T	c.(1486-1488)Gat>Tat	p.D496Y	DNAJC6_ENST00000263441.7_Missense_Mutation_p.D483Y|DNAJC6_ENST00000371069.4_Missense_Mutation_p.D553Y	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	496	Pro-rich.				cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						ACCCCCTGAGGATGTGGACCT	0.562																																						ENST00000395325.3																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						c.(1486-1488)Gat>Tat		DnaJ (Hsp40) homolog, subfamily C, member 6							46.0	48.0	47.0					1																	65858302		2203	4300	6503	SO:0001583	missense	9829				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:65858302G>T	AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"""Heat shock proteins / DNAJ (HSP40)"""	15469	protein-coding gene	gene with protein product	"""auxilin"""	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.1486G>T	1.37:g.65858302G>T	ENSP00000378735:p.Asp496Tyr					DNAJC6_ENST00000371069.4_Missense_Mutation_p.D553Y|DNAJC6_ENST00000263441.7_Missense_Mutation_p.D483Y	p.D496Y	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN			12	1643	+			496			Pro-rich.		B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Missense_Mutation	SNP	ENST00000395325.3	37	c.1486G>T	CCDS30739.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504308	0.85176	.	.	ENSG00000116675	ENST00000263441;ENST00000395325;ENST00000371069	D;D;D	0.93133	-3.16;-3.16;-3.17	5.65	5.65	0.86999	.	0.253799	0.44688	D	0.000436	D	0.90693	0.7080	L	0.44542	1.39	0.58432	D	0.999999	P;P;P	0.41673	0.759;0.646;0.646	P;B;B	0.45343	0.477;0.153;0.153	D	0.88946	0.3383	9	.	.	.	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	553;496;483	O75061-2;O75061;D3DQ66	.;AUXI_HUMAN;.	Y	483;496;553	ENSP00000263441:D483Y;ENSP00000378735:D496Y;ENSP00000360108:D553Y	.	D	+	1	0	DNAJC6	65630890	1.000000	0.71417	0.997000	0.53966	0.889000	0.51656	8.975000	0.93437	2.941000	0.99782	0.655000	0.94253	GAT		0.562	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025134.1			13	39	1	0	0.00010058	1	0.000108903	13	39				
OOSP2	219990	broad.mit.edu	37	11	59807995	59807995	+	Splice_Site	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:59807995T>C	ENST00000278855.2	+	1	248	c.63T>C	c.(61-63)caT>caC	p.H21H	PLAC1L_ENST00000532905.1_5'UTR	NM_173801.3	NP_776162.2	Q86WS3	OOSP2_HUMAN		21						extracellular region (GO:0005576)				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						AGAACCTCCATGGTAAATAAC	0.448																																						ENST00000278855.2																			0				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						c.e1+1									150.0	131.0	138.0					11																	59807995		2201	4295	6496	SO:0001630	splice_region_variant	219990					extracellular region		g.chr11:59807995T>C																												ENST00000278855.2:c.64+1T>C	11.37:g.59807995T>C						PLAC1L_ENST00000532905.1_5'UTR	p.H21_splice	NM_173801.3	NP_776162.2	Q86WS3	PLACL_HUMAN			1	248	+			21					E9PJA4|Q8N9U6	Splice_Site	SNP	ENST00000278855.2	37	c.64_splice	CCDS7979.1																																																																																				0.448	PLAC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394411.1		Silent	34	97	0	0	0	1	0	34	97				
ALDH1A2	8854	broad.mit.edu	37	15	58284929	58284929	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr15:58284929T>G	ENST00000249750.4	-	7	1539	c.772A>C	c.(772-774)Aag>Cag	p.K258Q	ALDH1A2_ENST00000537372.1_Missense_Mutation_p.K237Q|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.K162Q|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.K229Q|ALDH1A2_ENST00000347587.3_Intron	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	258					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	AATGCAATCTTGTCTATGCCA	0.458																																						ENST00000249750.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(772-774)Aag>Cag		aldehyde dehydrogenase 1 family, member A2	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)						112.0	105.0	108.0					15																	58284929		2192	4292	6484	SO:0001583	missense	8854				negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	g.chr15:58284929T>G	AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"""Aldehyde dehydrogenases"""	15472	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 2"""	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.772A>C	15.37:g.58284929T>G	ENSP00000249750:p.Lys258Gln					ALDH1A2_ENST00000537372.1_Missense_Mutation_p.K237Q|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.K162Q|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.K229Q|ALDH1A2_ENST00000347587.3_Intron	p.K258Q	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN		GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	7	1539	-			258					B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Missense_Mutation	SNP	ENST00000249750.4	37	c.772A>C	CCDS10163.1	.	.	.	.	.	.	.	.	.	.	T	28.5	4.929445	0.92389	.	.	ENSG00000128918	ENST00000249750;ENST00000430119;ENST00000543386;ENST00000537372	T;T	0.17528	2.27;2.27	5.65	5.65	0.86999	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.55641	0.1933	H	0.95850	3.73	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.989	D;D;D	0.74348	0.983;0.97;0.927	T	0.70615	-0.4823	10	0.87932	D	0	.	15.2098	0.73214	0.0:0.0:0.0:1.0	.	229;237;258	B4DH89;F5H2Y9;O94788	.;.;AL1A2_HUMAN	Q	258;162;229;237	ENSP00000249750:K258Q;ENSP00000438296:K237Q	ENSP00000249750:K258Q	K	-	1	0	ALDH1A2	56072221	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.525000	0.81892	2.371000	0.80710	0.533000	0.62120	AAG		0.458	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255869.1			20	74	0	0	0	1	0	20	74				
IL31RA	133396	broad.mit.edu	37	5	55212555	55212555	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:55212555G>T	ENST00000447346.2	+	15	1967	c.1902G>T	c.(1900-1902)aaG>aaT	p.K634N	IL31RA_ENST00000490985.1_Missense_Mutation_p.K492N|IL31RA_ENST00000359040.5_Missense_Mutation_p.K634N|IL31RA_ENST00000354961.4_Missense_Mutation_p.K615N|IL31RA_ENST00000396834.1_Missense_Mutation_p.K615N	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	602					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				CCAGTGACAAGTTGGTGATTG	0.433																																						ENST00000396834.1																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21						c.(1843-1845)aaG>aaT		interleukin 31 receptor A							94.0	96.0	95.0					5																	55212555		2203	4300	6503	SO:0001583	missense	133396				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity	g.chr5:55212555G>T	AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.1902G>T	5.37:g.55212555G>T	ENSP00000415900:p.Lys634Asn					IL31RA_ENST00000359040.5_Missense_Mutation_p.K634N|IL31RA_ENST00000447346.2_Missense_Mutation_p.K634N|IL31RA_ENST00000490985.1_Missense_Mutation_p.K492N|IL31RA_ENST00000354961.4_Missense_Mutation_p.K615N	p.K615N	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN			17	2341	+		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)	602					A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Missense_Mutation	SNP	ENST00000447346.2	37	c.1845G>T	CCDS3970.2	.	.	.	.	.	.	.	.	.	.	G	9.572	1.121260	0.20877	.	.	ENSG00000164509	ENST00000396834;ENST00000447346;ENST00000359040;ENST00000490985;ENST00000354961	T;T;T;T;T	0.42513	1.15;1.13;1.11;0.97;1.15	0.427	0.427	0.16489	.	1.574930	0.03321	N	0.191980	T	0.48519	0.1504	N	0.22421	0.69	0.80722	D	1	D;D;D	0.54772	0.968;0.968;0.968	P;P;P	0.61874	0.895;0.895;0.895	T	0.48246	-0.9052	9	0.42905	T	0.14	.	.	.	.	.	634;615;634	Q8NI17-5;Q8NI17-3;Q8NI17-2	.;.;.	N	615;634;634;492;615	ENSP00000380046:K615N;ENSP00000415900:K634N;ENSP00000351935:K634N;ENSP00000427533:K492N;ENSP00000347047:K615N	ENSP00000347047:K615N	K	+	3	2	IL31RA	55248312	0.950000	0.32346	0.995000	0.50966	0.799000	0.45148	0.364000	0.20325	0.458000	0.26988	0.467000	0.42956	AAG		0.433	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214148.1	NM_139017		16	82	1	0	2.32078e-09	1	2.83488e-09	16	82				
DPPA3	359787	broad.mit.edu	37	12	7867803	7867803	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:7867803C>A	ENST00000345088.2	+	2	224	c.107C>A	c.(106-108)aCg>aAg	p.T36K		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	36					chromatin modification (GO:0016568)|embryonic cleavage (GO:0040016)|negative regulation of DNA demethylation (GO:1901536)|protection of DNA demethylation of female pronucleus (GO:0044726)|regulation of genetic imprinting (GO:2000653)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		TCCTCCGAGACGTTGATAAAG	0.453																																						ENST00000345088.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8						c.(106-108)aCg>aAg		developmental pluripotency associated 3							109.0	121.0	117.0					12																	7867803		2203	4300	6503	SO:0001583	missense	359787					cytoplasm|nucleus		g.chr12:7867803C>A	AY317075	CCDS8582.1	12p13.31	2012-10-02			ENSG00000187569	ENSG00000187569			19199	protein-coding gene	gene with protein product		608408					Standard	NM_199286		Approved	Stella	uc001qtf.3	Q6W0C5	OTTHUMG00000168434	ENST00000345088.2:c.107C>A	12.37:g.7867803C>A	ENSP00000339250:p.Thr36Lys						p.T36K	NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN		Kidney(36;0.0887)	2	224	+			36					Q0P5U3|Q6JZS6	Missense_Mutation	SNP	ENST00000345088.2	37	c.107C>A	CCDS8582.1	.	.	.	.	.	.	.	.	.	.	C	6.409	0.443673	0.12164	.	.	ENSG00000187569	ENST00000345088	T	0.47177	0.85	2.61	-4.38	0.03622	.	.	.	.	.	T	0.30008	0.0751	L	0.29908	0.895	0.09310	N	1	P	0.37176	0.586	B	0.31547	0.132	T	0.07214	-1.0784	9	0.48119	T	0.1	-2.1606	11.4971	0.50415	0.0:0.7312:0.0:0.2688	.	36	Q6W0C5	DPPA3_HUMAN	K	36	ENSP00000339250:T36K	ENSP00000339250:T36K	T	+	2	0	DPPA3	7759070	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.332000	0.02670	-1.516000	0.01782	-1.134000	0.01955	ACG		0.453	DPPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399718.1	NM_199286		49	146	1	0	4.21674e-32	1	6.44618e-32	49	146				
PACRG	135138	broad.mit.edu	37	6	163735916	163735916	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:163735916T>A	ENST00000337019.3	+	7	1012	c.788T>A	c.(787-789)tTg>tAg	p.L263*	PACRG_ENST00000366888.2_Nonsense_Mutation_p.L224*|PACRG_ENST00000366889.2_Nonsense_Mutation_p.L224*	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	263					spermatid development (GO:0007286)	cell body (GO:0044297)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm midpiece (GO:0097225)				endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		ATTGGGGACTTGATCCAGGAG	0.507																																						ENST00000337019.3																			0				endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(787-789)tTg>tAg		PARK2 co-regulated							142.0	126.0	131.0					6																	163735916		2203	4300	6503	SO:0001587	stop_gained	135138							g.chr6:163735916T>A	AK057286	CCDS5284.1, CCDS43524.1	6q26	2004-07-01			ENSG00000112530	ENSG00000112530			19152	protein-coding gene	gene with protein product		608427				12547187	Standard	NM_001080378		Approved	PARK2CRG, FLJ32724, Glup, HAK005771	uc003qua.3	Q96M98	OTTHUMG00000016116	ENST00000337019.3:c.788T>A	6.37:g.163735916T>A	ENSP00000337946:p.Leu263*					PACRG_ENST00000366889.2_Nonsense_Mutation_p.L224*|PACRG_ENST00000366888.2_Nonsense_Mutation_p.L224*	p.L263*	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)	7	1012	+		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)	263					E1P5B5|Q6IMB8|Q8IZM1|Q8NHP5|Q9H1V9	Nonsense_Mutation	SNP	ENST00000337019.3	37	c.788T>A	CCDS5284.1	.	.	.	.	.	.	.	.	.	.	T	37	6.385389	0.97524	.	.	ENSG00000112530	ENST00000337019;ENST00000366889;ENST00000366888	.	.	.	5.87	5.87	0.94306	.	0.159540	0.43260	D	0.000595	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.8407	16.5764	0.84681	0.0:0.0:0.0:1.0	.	.	.	.	X	263;224;224	.	ENSP00000337946:L263X	L	+	2	0	PACRG	163655906	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.122000	0.64697	2.371000	0.80710	0.533000	0.62120	TTG		0.507	PACRG-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400424.1	NM_152410		14	59	0	0	0	1	0	14	59				
COL5A2	1290	broad.mit.edu	37	2	189931195	189931195	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:189931195C>A	ENST00000374866.3	-	23	1758	c.1484G>T	c.(1483-1485)gGc>gTc	p.G495V		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	495					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ACCGGGTGGGCCTATCGGACC	0.473																																						ENST00000374866.3																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95						c.(1483-1485)gGc>gTc		collagen, type V, alpha 2							134.0	140.0	138.0					2																	189931195		2203	4300	6503	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189931195C>A	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.1484G>T	2.37:g.189931195C>A	ENSP00000364000:p.Gly495Val						p.G495V	NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		23	1758	-			495					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.1484G>T	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.784828	0.90282	.	.	ENSG00000204262	ENST00000374866	D	0.97941	-4.62	5.52	5.52	0.82312	.	0.000000	0.56097	D	0.000040	D	0.99269	0.9745	H	0.96576	3.845	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.98818	1.0746	9	.	.	.	.	19.7984	0.96495	0.0:1.0:0.0:0.0	.	495	P05997	CO5A2_HUMAN	V	495	ENSP00000364000:G495V	.	G	-	2	0	COL5A2	189639440	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	7.445000	0.80570	2.753000	0.94483	0.467000	0.42956	GGC		0.473	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		82	222	1	0	9.04243e-43	1	1.40458e-42	82	222				
OAS3	4940	broad.mit.edu	37	12	113405829	113405829	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:113405829A>C	ENST00000228928.7	+	14	3133	c.2954A>C	c.(2953-2955)aAg>aCg	p.K985T	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	985	OAS domain 3.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CAGGGCGGGAAGGACTCCCAG	0.602																																						ENST00000228928.7																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						c.(2953-2955)aAg>aCg		2'-5'-oligoadenylate synthetase 3, 100kDa							67.0	69.0	68.0					12																	113405829		1987	4145	6132	SO:0001583	missense	4940				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113405829A>C	AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"""2'-5'-oligoadenylate synthetase 3 (100 kD)"""			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.2954A>C	12.37:g.113405829A>C	ENSP00000228928:p.Lys985Thr					RP1-71H24.1_ENST00000552784.1_RNA	p.K985T	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN			14	3133	+			985			OAS domain 3.		Q2HJ14|Q9H3P5	Missense_Mutation	SNP	ENST00000228928.7	37	c.2954A>C	CCDS44981.1	.	.	.	.	.	.	.	.	.	.	A	1.109	-0.658906	0.03454	.	.	ENSG00000111331	ENST00000228928;ENST00000323881	T	0.44881	0.91	4.88	-8.72	0.00845	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	.	.	.	.	T	0.23806	0.0576	N	0.17474	0.49	0.09310	N	1	B	0.27791	0.189	B	0.28011	0.085	T	0.22487	-1.0215	9	0.31617	T	0.26	.	14.236	0.65927	0.1674:0.1202:0.7124:0.0	.	985	Q9Y6K5	OAS3_HUMAN	T	985;984	ENSP00000228928:K985T	ENSP00000228928:K985T	K	+	2	0	OAS3	111890212	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.641000	0.00864	-1.801000	0.01245	-0.313000	0.08912	AAG		0.602	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1			14	60	0	0	0	1	0	14	60				
PODXL2	50512	broad.mit.edu	37	3	127388033	127388033	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:127388033G>C	ENST00000342480.6	+	6	1452	c.1413G>C	c.(1411-1413)agG>agC	p.R471S		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	471					leukocyte tethering or rolling (GO:0050901)	integral component of plasma membrane (GO:0005887)	glycosaminoglycan binding (GO:0005539)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						ACATCCGCAGGAGCCTGGAGG	0.567																																						ENST00000342480.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						c.(1411-1413)agG>agC		podocalyxin-like 2							75.0	65.0	69.0					3																	127388033		2203	4300	6503	SO:0001583	missense	50512				leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding	g.chr3:127388033G>C	AF219137	CCDS3044.1	3q21.3	2005-02-18			ENSG00000114631	ENSG00000114631			17936	protein-coding gene	gene with protein product	"""endoglycan"""					10722749	Standard	NM_015720		Approved	PODLX2, endoglycan	uc003ejq.3	Q9NZ53	OTTHUMG00000159642	ENST00000342480.6:c.1413G>C	3.37:g.127388033G>C	ENSP00000345359:p.Arg471Ser						p.R471S	NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN			6	1452	+			471					Q6UVY4|Q8WUV6	Missense_Mutation	SNP	ENST00000342480.6	37	c.1413G>C	CCDS3044.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.406084	0.42715	.	.	ENSG00000114631	ENST00000342480;ENST00000302192	T	0.20069	2.1	4.65	3.76	0.43208	.	0.235838	0.42821	D	0.000660	T	0.21881	0.0527	L	0.47716	1.5	0.32211	N	0.576529	B	0.25904	0.137	B	0.29942	0.109	T	0.28776	-1.0033	10	0.66056	D	0.02	-14.1527	13.6098	0.62071	0.0799:0.0:0.9201:0.0	.	471	Q9NZ53	PDXL2_HUMAN	S	471;396	ENSP00000345359:R471S	ENSP00000304498:R396S	R	+	3	2	PODXL2	128870723	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.444000	0.44890	2.296000	0.77279	0.591000	0.81541	AGG		0.567	PODXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356638.1	NM_015720		3	23	0	0	0	1	0	3	23				
USH2A	7399	broad.mit.edu	37	1	215848242	215848242	+	Silent	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:215848242C>G	ENST00000307340.3	-	63	13397	c.13011G>C	c.(13009-13011)acG>acC	p.T4337T	USH2A_ENST00000366943.2_Silent_p.T4337T	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4337	Fibronectin type-III 28. {ECO:0000255|PROSITE-ProRule:PRU00316}.		T -> M (in USH2A). {ECO:0000269|PubMed:17085681}.		hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATCCTCCACTCGTGCAGGCTT	0.498										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(13009-13011)acG>acC		Usher syndrome 2A (autosomal recessive, mild)							76.0	75.0	76.0					1																	215848242		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215848242C>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.13011G>C	1.37:g.215848242C>G		HNSCC(13;0.011)				USH2A_ENST00000307340.3_Silent_p.T4337T	p.T4337T			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	63	13397	-			4337		T -> M (in USH2A).	Fibronectin type-III 28.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.13011G>C	CCDS31025.1																																																																																				0.498	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		34	106	0	0	0	1	0	34	106				
ENAH	55740	broad.mit.edu	37	1	225702367	225702367	+	Silent	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:225702367T>C	ENST00000366844.3	-	7	1600	c.1149A>G	c.(1147-1149)tcA>tcG	p.S383S	ENAH_ENST00000366843.2_Silent_p.S383S|ENAH_ENST00000284563.6_Silent_p.S630S	NM_001008493.1|NM_018212.4	NP_001008493.1|NP_060682.2	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	383					actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|intracellular transport (GO:0046907)|neural tube closure (GO:0001843)|T cell receptor signaling pathway (GO:0050852)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)|synapse (GO:0045202)	WW domain binding (GO:0050699)			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		GATTGTCTTCTGACATGGATG	0.498																																						ENST00000366844.2																			0				NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(1147-1149)tcA>tcG		enabled homolog (Drosophila)							46.0	48.0	47.0					1																	225702367		2201	4288	6489	SO:0001819	synonymous_variant	55740				axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding	g.chr1:225702367T>C	AK001635	CCDS31040.1, CCDS31041.1	1q32.2	2013-08-06			ENSG00000154380	ENSG00000154380			18271	protein-coding gene	gene with protein product	"""mammalian enabled"""	609061				1420303	Standard	XM_005273182		Approved	FLJ10773, NDPP1, MENA	uc001hpc.1	Q8N8S7	OTTHUMG00000037742	ENST00000366844.3:c.1149A>G	1.37:g.225702367T>C						ENAH_ENST00000366843.2_Silent_p.S383S|ENAH_ENST00000284563.6_Silent_p.S630S	p.S383S	NM_001008493.1	NP_001008493.1	Q8N8S7	ENAH_HUMAN		GBM - Glioblastoma multiforme(131;0.19)	7	1600	-	Breast(184;0.206)		383					D0PQI2|Q502W5|Q5T5M7|Q5VTQ9|Q5VTR0|Q9NVF3|Q9UFB8	Silent	SNP	ENST00000366844.3	37	c.1149A>G	CCDS31041.1																																																																																				0.498	ENAH-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357426.2	NM_018212		20	82	0	0	0	1	0	20	82				
CCDC146	57639	broad.mit.edu	37	7	76797071	76797071	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:76797071C>A	ENST00000285871.4	+	2	213	c.86C>A	c.(85-87)cCc>cAc	p.P29H	CCDC146_ENST00000431197.1_5'UTR|RP11-467H10.2_ENST00000459742.1_RNA	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	29										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				GCCATAGTGCCCACAATTAAC	0.358																																						ENST00000285871.4																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34						c.(85-87)cCc>cAc		coiled-coil domain containing 146							93.0	95.0	94.0					7																	76797071		2202	4281	6483	SO:0001583	missense	57639							g.chr7:76797071C>A	BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.86C>A	7.37:g.76797071C>A	ENSP00000285871:p.Pro29His					CCDC146_ENST00000431197.1_5'UTR|RP11-467H10.2_ENST00000459742.1_RNA	p.P29H	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN			2	213	+		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)	29					A8K8X6|Q9P223	Missense_Mutation	SNP	ENST00000285871.4	37	c.86C>A	CCDS34671.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.235787	0.39498	.	.	ENSG00000135205	ENST00000415750;ENST00000285871	D;D	0.86164	-2.08;-2.08	4.07	4.07	0.47477	.	0.086494	0.45867	D	0.000324	D	0.91576	0.7339	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.91514	0.5229	10	0.54805	T	0.06	-1.4892	11.9983	0.53216	0.0:1.0:0.0:0.0	.	29;29	Q8IYE0;C9JRR4	CC146_HUMAN;.	H	29	ENSP00000388649:P29H;ENSP00000285871:P29H	ENSP00000285871:P29H	P	+	2	0	AC007000.1	76635007	0.986000	0.35501	0.307000	0.25127	0.430000	0.31655	3.589000	0.53972	2.259000	0.74868	0.454000	0.30748	CCC		0.358	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341449.1	NM_020879		9	105	1	0	0.00400662	1	0.00415183	9	105				
ENPP2	5168	broad.mit.edu	37	8	120633726	120633726	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:120633726C>T	ENST00000075322.6	-	4	384	c.326G>A	c.(325-327)gGa>gAa	p.G109E	ENPP2_ENST00000427067.2_Missense_Mutation_p.G105E|ENPP2_ENST00000259486.6_Missense_Mutation_p.G109E|ENPP2_ENST00000522826.1_Missense_Mutation_p.G109E	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	109	SMB 2. {ECO:0000255|PROSITE- ProRule:PRU00350}.				cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TCTGACTTCTCCACATCTGTC	0.458																																					Melanoma(20;305 879 2501 4818 31020)	ENST00000427067.2																			0				breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69						c.(313-315)gGa>gAa		ectonucleotide pyrophosphatase/phosphodiesterase 2							122.0	116.0	118.0					8																	120633726		2203	4300	6503	SO:0001583	missense	5168				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120633726C>T	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.326G>A	8.37:g.120633726C>T	ENSP00000075322:p.Gly109Glu					ENPP2_ENST00000259486.6_Missense_Mutation_p.G109E|ENPP2_ENST00000075322.6_Missense_Mutation_p.G109E|ENPP2_ENST00000522826.1_Missense_Mutation_p.G109E	p.G105E			Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		4	494	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		109			SMB 2.		A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	c.314G>A	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	C	33	5.258874	0.95368	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522826;ENST00000075322;ENST00000520066	T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72	5.92	5.92	0.95590	Somatomedin B domain (3);	0.096867	0.64402	D	0.000001	T	0.69735	0.3144	M	0.72894	2.215	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.998	D;P;D	0.69654	0.965;0.908;0.941	T	0.70605	-0.4826	10	0.87932	D	0	.	20.3343	0.98733	0.0:1.0:0.0:0.0	.	109;109;109	E9PHP7;Q13822;Q13822-2	.;ENPP2_HUMAN;.	E	109;105;109;109;91	ENSP00000259486:G109E;ENSP00000403315:G105E;ENSP00000428291:G109E;ENSP00000075322:G109E;ENSP00000428304:G91E	ENSP00000075322:G109E	G	-	2	0	ENPP2	120702907	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.818000	0.86416	2.822000	0.97130	0.650000	0.86243	GGA		0.458	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			24	138	0	0	0	1	0	24	138				
NXPE1	120400	broad.mit.edu	37	11	114392878	114392878	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:114392878C>G	ENST00000424269.1	-	5	1455	c.1456G>C	c.(1456-1458)Gag>Cag	p.E486Q	NXPE1_ENST00000536271.1_Missense_Mutation_p.E202Q|NXPE1_ENST00000251921.2_Missense_Mutation_p.E344Q			Q8N323	NXPE1_HUMAN	neurexophilin and PC-esterase domain family, member 1	486						extracellular region (GO:0005576)											CTCTCTGTCTCTATGTGCATC	0.423																																						ENST00000536271.1																			0											c.(604-606)Gag>Cag		neurexophilin and PC-esterase domain family, member 1							196.0	191.0	193.0					11																	114392878		2201	4296	6497	SO:0001583	missense	120400							g.chr11:114392878C>G	BC029049	CCDS8372.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000095110	ENSG00000095110			28527	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member A"""	FAM55A		12477932	Standard	NM_152315		Approved	MGC34290	uc001ppa.3	Q8N323	OTTHUMG00000168284	ENST00000424269.1:c.1456G>C	11.37:g.114392878C>G	ENSP00000411690:p.Glu486Gln					NXPE1_ENST00000251921.2_Missense_Mutation_p.E344Q|NXPE1_ENST00000424269.1_Missense_Mutation_p.E486Q	p.E202Q							4	1847	-								B0YJ13	Missense_Mutation	SNP	ENST00000424269.1	37	c.604G>C		.	.	.	.	.	.	.	.	.	.	C	6.466	0.454182	0.12283	.	.	ENSG00000095110	ENST00000536271;ENST00000251921;ENST00000424269	T;T;T	0.19394	2.15;2.15;2.15	4.49	1.5	0.22942	.	0.987799	0.08251	N	0.974660	T	0.25680	0.0625	M	0.69823	2.125	0.09310	N	1	B	0.29671	0.254	B	0.37480	0.251	T	0.39881	-0.9592	10	0.27785	T	0.31	-15.3301	4.3534	0.11167	0.1588:0.5809:0.0:0.2603	.	486	Q8N323	FA55A_HUMAN	Q	202;344;486	ENSP00000445200:E202Q;ENSP00000251921:E344Q;ENSP00000411690:E486Q	ENSP00000251921:E344Q	E	-	1	0	FAM55A	113898088	0.002000	0.14202	0.001000	0.08648	0.006000	0.05464	0.039000	0.13884	0.194000	0.20326	0.650000	0.86243	GAG		0.423	NXPE1-201	KNOWN	basic	protein_coding	protein_coding		NM_152315		16	122	0	0	0	1	0	16	122				
GPR123	84435	broad.mit.edu	37	10	134896171	134896171	+	Silent	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:134896171C>G	ENST00000607359.1	+	6	1257	c.1257C>G	c.(1255-1257)ggC>ggG	p.G419G	RP13-439H18.4_ENST00000444433.1_RNA			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	0					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		ACGGCCTTGGCCTGAGGTGGG	0.617																																						ENST00000607359.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14						c.(1255-1257)ggC>ggG		G protein-coupled receptor 123							44.0	45.0	45.0					10																	134896171		1568	3582	5150	SO:0001819	synonymous_variant	84435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:134896171C>G	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000607359.1:c.1257C>G	10.37:g.134896171C>G							p.G419G			Q86SQ6	GP123_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)	6	1257	+		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)	0					A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Silent	SNP	ENST00000607359.1	37	c.1257C>G																																																																																					0.617	GPR123-004	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316904.2			8	36	0	0	0	1	0	8	36				
CACNA1E	777	broad.mit.edu	37	1	181767620	181767620	+	Nonsense_Mutation	SNP	C	C	T	rs559196607		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:181767620C>T	ENST00000367573.2	+	48	6592	c.6592C>T	c.(6592-6594)Caa>Taa	p.Q2198*	CACNA1E_ENST00000358338.5_Nonsense_Mutation_p.Q2087*|CACNA1E_ENST00000360108.3_Nonsense_Mutation_p.Q2179*|CACNA1E_ENST00000367567.4_Nonsense_Mutation_p.Q1762*|CACNA1E_ENST00000367570.1_Nonsense_Mutation_p.Q2155*|CACNA1E_ENST00000526775.1_Nonsense_Mutation_p.Q2136*|CACNA1E_ENST00000357570.5_Nonsense_Mutation_p.Q2149*	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2198					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GCTGACCTCCCAAGCTCTGGA	0.627																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(6406-6408)Caa>Taa		calcium channel, voltage-dependent, R type, alpha 1E subunit							56.0	66.0	63.0					1																	181767620		2122	4242	6364	SO:0001587	stop_gained	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181767620C>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.6592C>T	1.37:g.181767620C>T	ENSP00000356545:p.Gln2198*					CACNA1E_ENST00000357570.5_Nonsense_Mutation_p.Q2149*|CACNA1E_ENST00000358338.5_Nonsense_Mutation_p.Q2087*|CACNA1E_ENST00000367573.2_Nonsense_Mutation_p.Q2198*|CACNA1E_ENST00000367570.1_Nonsense_Mutation_p.Q2155*|CACNA1E_ENST00000360108.3_Nonsense_Mutation_p.Q2179*|CACNA1E_ENST00000367567.4_Nonsense_Mutation_p.Q1762*	p.Q2136*	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			46	6571	+			2198					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Nonsense_Mutation	SNP	ENST00000367573.2	37	c.6406C>T	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	46	12.797105	0.99697	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	.	.	.	5.55	3.44	0.39384	.	3.159780	0.00888	N	0.002202	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	8.5788	0.33614	0.2791:0.6106:0.1104:0.0	.	.	.	.	X	2155;2136;2149;2087;1762;2179;2198	.	ENSP00000350183:Q2149X	Q	+	1	0	CACNA1E	180034243	0.037000	0.19845	0.827000	0.32855	0.829000	0.46940	0.499000	0.22546	1.275000	0.44379	0.558000	0.71614	CAA		0.627	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		30	86	0	0	0	1	0	30	86				
DROSHA	29102	broad.mit.edu	37	5	31449514	31449514	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:31449514G>T	ENST00000511367.2	-	21	2939	c.2695C>A	c.(2695-2697)Cat>Aat	p.H899N	DROSHA_ENST00000344624.3_Missense_Mutation_p.H899N|DROSHA_ENST00000513349.1_Missense_Mutation_p.H862N|DROSHA_ENST00000442743.1_Missense_Mutation_p.H862N	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	899	Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 1.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						TGACTTGGATGAGTCATGGCC	0.413																																						ENST00000511367.2																			0				breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						c.(2695-2697)Cat>Aat		drosha, ribonuclease type III							50.0	45.0	46.0					5																	31449514		1857	4103	5960	SO:0001583	missense	29102				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31449514G>T	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.2695C>A	5.37:g.31449514G>T	ENSP00000425979:p.His899Asn					DROSHA_ENST00000344624.3_Missense_Mutation_p.H899N|DROSHA_ENST00000442743.1_Missense_Mutation_p.H862N|DROSHA_ENST00000513349.1_Missense_Mutation_p.H862N	p.H899N	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN			21	2939	-			899			Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 1.		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	c.2695C>A	CCDS47195.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.030685	0.93575	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188	D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51	5.76	5.76	0.90799	Ribonuclease III (3);	0.000000	0.85682	D	0.000000	D	0.97259	0.9104	H	0.98754	4.32	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	D	0.98413	1.0573	10	0.87932	D	0	-21.295	19.9787	0.97318	0.0:0.0:1.0:0.0	.	862;899	E7EMP9;Q9NRR4	.;RNC_HUMAN	N	899;899;862;862;824;855	ENSP00000425979:H899N;ENSP00000339845:H899N;ENSP00000409335:H862N;ENSP00000424161:H862N	ENSP00000265075:H824N	H	-	1	0	DROSHA	31485271	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.310000	0.96267	2.719000	0.93026	0.555000	0.69702	CAT		0.413	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		4	10	1	0	0.150653	1	0.151241	4	10				
PRMT9	90826	broad.mit.edu	37	4	148575546	148575546	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:148575546C>A	ENST00000322396.6	-	9	1744	c.1502G>T	c.(1501-1503)aGt>aTt	p.S501I	PRMT10_ENST00000541232.1_Missense_Mutation_p.S388I|TMEM184C_ENST00000508208.1_Intron	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN		501						cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						AGCGAGGGCACTACAAAGTTC	0.383																																						ENST00000322396.6																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(1501-1503)aGt>aTt		protein arginine methyltransferase 10 (putative)							154.0	146.0	149.0					4																	148575546		2203	4300	6503	SO:0001583	missense	90826					cytoplasm	binding|protein methyltransferase activity	g.chr4:148575546C>A																												ENST00000322396.6:c.1502G>T	4.37:g.148575546C>A	ENSP00000314396:p.Ser501Ile					TMEM184C_ENST00000508208.1_Intron|PRMT10_ENST00000541232.1_Missense_Mutation_p.S388I	p.S501I	NM_138364.2	NP_612373.2	Q6P2P2	ANM10_HUMAN			9	1744	-			501					A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Missense_Mutation	SNP	ENST00000322396.6	37	c.1502G>T	CCDS3771.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.033188	0.35893	.	.	ENSG00000164169	ENST00000322396;ENST00000541232	T;T	0.33438	1.41;1.41	6.04	1.25	0.21368	.	0.214328	0.56097	D	0.000023	T	0.28797	0.0714	M	0.64997	1.995	0.34385	D	0.693538	P	0.39326	0.668	B	0.41088	0.347	T	0.34129	-0.9841	10	0.72032	D	0.01	.	4.8675	0.13616	0.0:0.3314:0.1595:0.5091	.	501	Q6P2P2	ANM10_HUMAN	I	501;388	ENSP00000314396:S501I;ENSP00000439508:S388I	ENSP00000314396:S501I	S	-	2	0	PRMT10	148794996	0.997000	0.39634	0.998000	0.56505	0.772000	0.43724	0.494000	0.22467	0.112000	0.17975	-1.263000	0.01449	AGT		0.383	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364650.1			37	181	1	0	6.19805e-25	1	9.29106e-25	37	181				
CD36	948	broad.mit.edu	37	7	80303408	80303408	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:80303408T>A	ENST00000435819.1	+	17	2048	c.1364T>A	c.(1363-1365)aTg>aAg	p.M455K	CD36_ENST00000544133.1_3'UTR|CD36_ENST00000394788.3_Missense_Mutation_p.M455K|CD36_ENST00000432207.1_Missense_Mutation_p.M455K|CD36_ENST00000433696.2_Missense_Mutation_p.M416K|CD36_ENST00000538969.1_Missense_Mutation_p.M395K|CD36_ENST00000447544.2_Missense_Mutation_p.M455K|CD36_ENST00000309881.7_Missense_Mutation_p.M455K|CD36_ENST00000534394.1_Missense_Mutation_p.M379K			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	455					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 cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular lipid metabolic process (GO:0044255)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to hydroperoxide (GO:0071447)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cGMP-mediated signaling (GO:0019934)|cholesterol transport (GO:0030301)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|lipoprotein transport (GO:0042953)|long-chain fatty acid import (GO:0044539)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle mediated signaling (GO:0055096)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitric oxide mediated signal transduction (GO:0007263)|phagocytosis, recognition (GO:0006910)|plasma lipoprotein particle clearance (GO:0034381)|plasma membrane long-chain fatty acid transport (GO:0015911)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood microparticle formation (GO:2000334)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of removal of superoxide radicals (GO:2000121)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|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)	cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|lipoteichoic acid receptor activity (GO:0070892)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|thrombospondin receptor activity (GO:0070053)|transforming growth factor beta binding (GO:0050431)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						GGTGTGGTGATGTTTGTTGCT	0.323																																						ENST00000435819.1																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						c.(1363-1365)aTg>aAg		CD36 molecule (thrombospondin receptor)							162.0	158.0	159.0					7																	80303408		2202	4300	6502	SO:0001583	missense	948				cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding	g.chr7:80303408T>A	Z32770	CCDS34673.1	7q11.2	2010-02-26	2006-03-28		ENSG00000135218	ENSG00000135218		"""CD molecules"""	1663	protein-coding gene	gene with protein product		173510	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)"""			7503937	Standard	NM_001001548		Approved	SCARB3, GPIV, FAT, GP4, GP3B	uc003uhg.4	P16671	OTTHUMG00000155383	ENST00000435819.1:c.1364T>A	7.37:g.80303408T>A	ENSP00000399421:p.Met455Lys					CD36_ENST00000538969.1_Missense_Mutation_p.M395K|CD36_ENST00000432207.1_Missense_Mutation_p.M455K|CD36_ENST00000534394.1_Missense_Mutation_p.M379K|CD36_ENST00000447544.2_Missense_Mutation_p.M455K|CD36_ENST00000394788.3_Missense_Mutation_p.M455K|CD36_ENST00000433696.2_Missense_Mutation_p.M416K|CD36_ENST00000544133.1_3'UTR|CD36_ENST00000309881.7_Missense_Mutation_p.M455K	p.M455K			P16671	CD36_HUMAN			17	2048	+			455					D9IX66|D9IX67|D9IX68|D9IX69|Q13966|Q16093|Q8TCV7|Q9BPZ8|Q9BQC2|Q9BZM8|Q9BZN3|Q9BZN4|Q9BZN5	Missense_Mutation	SNP	ENST00000435819.1	37	c.1364T>A	CCDS34673.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.66|15.66	2.898036|2.898036	0.52227|0.52227	.|.	.|.	ENSG00000135218|ENSG00000135218	ENST00000488048|ENST00000435819;ENST00000309881;ENST00000534394;ENST00000394788;ENST00000447544;ENST00000432207;ENST00000419819;ENST00000538969;ENST00000433696	.|T;T;T;T;T;T;T;T;T	.|0.72615	.|-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67	5.84|5.84	4.71|4.71	0.59529|0.59529	.|.	.|0.366535	.|0.36665	.|N	.|0.002461	T|T	0.65688|0.65688	0.2715|0.2715	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	.|P	.|0.37594	.|0.601	.|B	.|0.34242	.|0.178	T|T	0.66744|0.66744	-0.5846|-0.5846	5|9	.|.	.|.	.|.	-39.3265|-39.3265	10.244|10.244	0.43330|0.43330	0.0:0.1066:0.0:0.8934|0.0:0.1066:0.0:0.8934	.|.	.|455	.|P16671	.|CD36_HUMAN	E|K	48|455;455;379;455;455;455;455;395;416	.|ENSP00000399421:M455K;ENSP00000308165:M455K;ENSP00000431296:M379K;ENSP00000378268:M455K;ENSP00000415743:M455K;ENSP00000411411:M455K;ENSP00000392298:M455K;ENSP00000439543:M395K;ENSP00000401863:M416K	.|.	D|M	+|+	3|2	2|0	CD36|CD36	80141344|80141344	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	2.968000|2.968000	0.49224|0.49224	2.235000|2.235000	0.73313|0.73313	0.459000|0.459000	0.35465|0.35465	GAT|ATG		0.323	CD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339767.6	NM_001001547		11	47	0	0	0	1	0	11	47				
C9	735	broad.mit.edu	37	5	39306790	39306790	+	Missense_Mutation	SNP	C	C	T	rs374259433		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:39306790C>T	ENST00000263408.4	-	9	1440	c.1345G>A	c.(1345-1347)Gtg>Atg	p.V449M		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	449	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			ACATCAATCACGGTTCCTCGG	0.383																																						ENST00000263408.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1345-1347)Gtg>Atg		complement component 9		C	MET/VAL	0,4406		0,0,2203	148.0	126.0	134.0		1345	1.0	0.0	5		134	1,8599	1.2+/-3.3	0,1,4299	no	missense	C9	NM_001737.3	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	449/560	39306790	1,13005	2203	4300	6503	SO:0001583	missense	735				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		g.chr5:39306790C>T		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"""Complement system"""	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.1345G>A	5.37:g.39306790C>T	ENSP00000263408:p.Val449Met						p.V449M	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	Epithelial(62;0.158)		9	1440	-	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	449			MACPF.			Missense_Mutation	SNP	ENST00000263408.4	37	c.1345G>A	CCDS3929.1	.	.	.	.	.	.	.	.	.	.	C	0.135	-1.109176	0.01813	0.0	1.16E-4	ENSG00000113600	ENST00000263408	T	0.31247	1.5	4.98	0.96	0.19631	Membrane attack complex component/perforin (MACPF) domain (3);	0.972034	0.08527	N	0.932570	T	0.12987	0.0315	N	0.05230	-0.09	0.09310	N	1	B	0.16166	0.016	B	0.11329	0.006	T	0.29088	-1.0023	10	0.30078	T	0.28	0.1283	2.9443	0.05841	0.1304:0.0766:0.2697:0.5233	.	449	P02748	CO9_HUMAN	M	449	ENSP00000263408:V449M	ENSP00000263408:V449M	V	-	1	0	C9	39342547	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.068000	0.14531	0.360000	0.24265	-1.725000	0.00704	GTG		0.383	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3			26	97	0	0	0	1	0	26	97				
HERC2P3	283755	broad.mit.edu	37	15	20644293	20644293	+	RNA	SNP	C	C	A	rs551210403		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr15:20644293C>A	ENST00000428453.1	-	0	3270							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TGCAGCAGTGCCACCACCTCC	0.632													.|||	1	0.000199681	0.0	0.0	5008	,	,		27252	0.0		0.001	False		,,,				2504	0.0					ENST00000428453.1																			0				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															11.0	7.0	8.0					15																	20644293		2094	4013	6107			283755							g.chr15:20644293C>A	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20644293C>A														0	3270	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.632	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		7	39	1	0	9.31168e-06	1	1.04183e-05	7	39				
DSCC1	79075	broad.mit.edu	37	8	120865319	120865319	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:120865319C>T	ENST00000313655.4	-	2	533	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K		NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	DNA replication and sister chromatid cohesion 1	107					DNA replication (GO:0006260)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGTGAATCTTCCTTCTTCAAC	0.363																																						ENST00000313655.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9						c.(319-321)Gaa>Aaa		DNA replication and sister chromatid cohesion 1							160.0	143.0	149.0					8																	120865319		2203	4300	6503	SO:0001583	missense	79075				DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding	g.chr8:120865319C>T		CCDS6330.1	8q24.12	2013-05-24	2013-05-24		ENSG00000136982	ENSG00000136982			24453	protein-coding gene	gene with protein product	"""defective in sister chromatid cohesion homolog 1 (S. cerevisiae)"""	613203	"""defective in sister chromatid cohesion 1 homolog (S. cerevisiae)"""			12766176, 20826785	Standard	NM_024094		Approved	DCC1, hDCC1, MGC5528	uc003yov.3	Q9BVC3	OTTHUMG00000165010	ENST00000313655.4:c.319G>A	8.37:g.120865319C>T	ENSP00000322180:p.Glu107Lys						p.E107K	NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		2	533	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		107					Q969N5	Missense_Mutation	SNP	ENST00000313655.4	37	c.319G>A	CCDS6330.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.857061	0.51376	.	.	ENSG00000136982	ENST00000313655	T	0.44083	0.93	5.33	4.45	0.53987	.	0.373177	0.30575	N	0.009326	T	0.26484	0.0647	L	0.27053	0.805	0.29056	N	0.88422	B	0.32101	0.356	B	0.33960	0.173	T	0.12785	-1.0534	10	0.06494	T	0.89	-17.2246	11.7121	0.51630	0.0:0.9185:0.0:0.0815	.	107	Q9BVC3	DCC1_HUMAN	K	107	ENSP00000322180:E107K	ENSP00000322180:E107K	E	-	1	0	DSCC1	120934500	0.245000	0.23899	0.933000	0.37362	0.437000	0.31866	1.159000	0.31749	2.507000	0.84556	0.655000	0.94253	GAA		0.363	DSCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381443.1	NM_024094		22	93	0	0	0	1	0	22	93				
MAGEA3	4102	broad.mit.edu	37	X	151935917	151935917	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chrX:151935917A>T	ENST00000393902.3	-	3	817	c.250T>A	c.(250-252)Tat>Aat	p.Y84N	MAGEA3_ENST00000370278.3_Missense_Mutation_p.Y84N			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	84										endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GAGTCCTCATAGGATTGGCTC	0.607																																						ENST00000393902.3																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15						c.(250-252)Tat>Aat		melanoma antigen family A, 3							55.0	51.0	52.0					X																	151935917		2202	4286	6488	SO:0001583	missense	4102							g.chrX:151935917A>T		CCDS76045.1	Xq28	2009-03-13			ENSG00000221867	ENSG00000221867			6801	protein-coding gene	gene with protein product	"""melanoma-associated antigen 3"", ""antigen MZ2-D"", ""MAGE-3 antigen"", ""cancer/testis antigen family 1, member 3"""	300174		MAGE3		1840703, 8575766	Standard	NM_005362		Approved	HYPD, HIP8, MGC14613, CT1.3	uc004fgp.3	P43357	OTTHUMG00000022640	ENST00000393902.3:c.250T>A	X.37:g.151935917A>T	ENSP00000377480:p.Tyr84Asn					MAGEA3_ENST00000370278.3_Missense_Mutation_p.Y84N	p.Y84N			P43357	MAGA3_HUMAN			3	817	-	Acute lymphoblastic leukemia(192;6.56e-05)		84					Q6FHI6	Missense_Mutation	SNP	ENST00000393902.3	37	c.250T>A	CCDS14715.1	.	.	.	.	.	.	.	.	.	.	N	0.029	-1.346250	0.01266	.	.	ENSG00000221867	ENST00000370278;ENST00000393902;ENST00000417212	T;T;T	0.03831	3.79;3.79;3.79	1.1	-2.19	0.07015	Melanoma associated antigen, MAGE, N-terminal (1);	3.128040	0.00769	N	0.001186	T	0.01189	0.0039	N	0.00170	-1.935	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43130	-0.9410	10	0.20519	T	0.43	.	2.7514	0.05282	0.2684:0.4789:0.0:0.2527	.	84	P43357	MAGA3_HUMAN	N	84	ENSP00000359301:Y84N;ENSP00000377480:Y84N;ENSP00000392758:Y84N	ENSP00000359301:Y84N	Y	-	1	0	MAGEA3	151686573	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.173000	0.00572	-2.770000	0.00365	-3.144000	0.00059	TAT		0.607	MAGEA3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058744.1	NM_005362		35	31	0	0	0	1	0	35	31				
MAP2	4133	broad.mit.edu	37	2	210557934	210557934	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:210557934C>A	ENST00000360351.4	+	7	1546	c.1040C>A	c.(1039-1041)cCa>cAa	p.P347Q	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.P343Q|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	347					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)	TTTTTACAGCCAGATGACAAA	0.438																																					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.(1039-1041)cCa>cAa		microtubule-associated protein 2	Estramustine(DB01196)						59.0	64.0	62.0					2																	210557934		2202	4300	6502	SO:0001583	missense	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.chr2:210557934C>A		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.1040C>A	2.37:g.210557934C>A	ENSP00000353508:p.Pro347Gln					MAP2_ENST00000447185.1_Missense_Mutation_p.P343Q|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron	p.P347Q	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	1546	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	347					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.1040C>A	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.825530	0.50739	.	.	ENSG00000078018	ENST00000360351;ENST00000445941;ENST00000447185	T;T;T	0.32515	3.25;1.45;3.25	5.83	3.81	0.43845	.	0.576219	0.16892	N	0.195293	T	0.39937	0.1097	L	0.47716	1.5	0.24012	N	0.99618	P;P	0.49783	0.928;0.883	P;P	0.56042	0.79;0.621	T	0.16630	-1.0396	10	0.87932	D	0	0.0039	8.5615	0.33514	0.0:0.7934:0.0:0.2066	.	343;347	P11137-3;P11137	.;MAP2_HUMAN	Q	347;429;343	ENSP00000353508:P347Q;ENSP00000409969:P429Q;ENSP00000392164:P343Q	ENSP00000353508:P347Q	P	+	2	0	MAP2	210266179	0.998000	0.40836	0.996000	0.52242	0.876000	0.50452	0.625000	0.24477	0.638000	0.30545	0.650000	0.86243	CCA		0.438	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		17	74	1	0	6.94344e-10	1	8.54918e-10	17	74				
SALL4	57167	broad.mit.edu	37	20	50418837	50418837	+	Silent	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr20:50418837C>T	ENST00000217086.4	-	1	222	c.111G>A	c.(109-111)gcG>gcA	p.A37A	SALL4_ENST00000395997.3_Silent_p.A37A|SALL4_ENST00000371539.3_Silent_p.A37A|SALL4_ENST00000483130.1_5'Flank	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	37					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ccgccgcgggcgccgctgggg	0.736																																						ENST00000217086.4																			0				endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(109-111)gcG>gcA		spalt-like transcription factor 4							7.0	11.0	10.0					20																	50418837		2031	4023	6054	SO:0001819	synonymous_variant	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50418837C>T	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.111G>A	20.37:g.50418837C>T						SALL4_ENST00000395997.3_Silent_p.A37A|SALL4_ENST00000371539.3_Silent_p.A37A	p.A37A	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN			1	222	-			37					A2A2D8|Q540H3|Q6Y8G6	Silent	SNP	ENST00000217086.4	37	c.111G>A	CCDS13438.1																																																																																				0.736	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			5	22	0	0	0	1	0	5	22				
ANK2	287	broad.mit.edu	37	4	114275445	114275445	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:114275445T>C	ENST00000357077.4	+	38	5724	c.5671T>C	c.(5671-5673)Tct>Cct	p.S1891P	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.S1858P|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1891	Repeat-rich region.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGAAAGGCACTCTCCTGTGTC	0.478																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(5671-5673)Tct>Cct		ankyrin 2, neuronal							151.0	137.0	142.0					4																	114275445		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114275445T>C	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.5671T>C	4.37:g.114275445T>C	ENSP00000349588:p.Ser1891Pro					ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.S1858P|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron	p.S1891P	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	5724	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1858			Repeat-rich region.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.5671T>C	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	T	17.02	3.281911	0.59758	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.68479	-0.32;-0.33	5.14	3.92	0.45320	.	0.460095	0.18986	N	0.125732	T	0.66406	0.2786	L	0.33485	1.01	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.80764	0.986;0.994	T	0.64892	-0.6300	9	.	.	.	.	2.1691	0.03845	0.1602:0.0844:0.1673:0.5882	.	1858;1891	Q01484;Q01484-4	ANK2_HUMAN;.	P	1891;1858	ENSP00000349588:S1891P;ENSP00000264366:S1858P	.	S	+	1	0	ANK2	114494894	0.933000	0.31639	1.000000	0.80357	0.966000	0.64601	1.212000	0.32394	1.034000	0.39945	0.533000	0.62120	TCT		0.478	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		40	125	0	0	0	1	0	40	125				
SLC4A8	9498	broad.mit.edu	37	12	51857496	51857496	+	Silent	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:51857496G>C	ENST00000453097.2	+	11	1564	c.1347G>C	c.(1345-1347)ggG>ggC	p.G449G	SLC4A8_ENST00000358657.3_Silent_p.G476G|SLC4A8_ENST00000514353.3_Silent_p.G396G|SLC4A8_ENST00000535225.2_Silent_p.G396G|SLC4A8_ENST00000394856.1_Silent_p.G396G	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		AGCGCACTGGGCGGTAAGTCC	0.488																																						ENST00000453097.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55						c.(1345-1347)ggG>ggC		solute carrier family 4, sodium bicarbonate cotransporter, member 8							86.0	86.0	86.0					12																	51857496		2203	4300	6503	SO:0001819	synonymous_variant	9498				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	g.chr12:51857496G>C	AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"""Solute carriers"""	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.1347G>C	12.37:g.51857496G>C						SLC4A8_ENST00000535225.2_Silent_p.G396G|SLC4A8_ENST00000514353.3_Silent_p.G396G|SLC4A8_ENST00000358657.3_Silent_p.G476G|SLC4A8_ENST00000394856.1_Silent_p.G396G	p.G449G	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.15)	11	1564	+			449						Silent	SNP	ENST00000453097.2	37	c.1347G>C	CCDS44890.1																																																																																				0.488	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858		11	73	0	0	0	1	0	11	73				
AFF3	3899	broad.mit.edu	37	2	100210323	100210323	+	Silent	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:100210323G>T	ENST00000409236.2	-	13	1912	c.1800C>A	c.(1798-1800)gcC>gcA	p.A600A	AFF3_ENST00000317233.4_Silent_p.A600A|AFF3_ENST00000356421.2_Silent_p.A625A|AFF3_ENST00000409579.1_Silent_p.A625A			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	600					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GGTGGCAGTTGGCGCCGTCCC	0.756																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(1798-1800)gcC>gcA		AF4/FMR2 family, member 3							7.0	10.0	9.0					2																	100210323		1917	3865	5782	SO:0001819	synonymous_variant	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100210323G>T	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1800C>A	2.37:g.100210323G>T						AFF3_ENST00000409579.1_Silent_p.A625A|AFF3_ENST00000409236.1_Silent_p.A600A|AFF3_ENST00000356421.2_Silent_p.A625A	p.A600A	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			14	2035	-			600					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP	ENST00000409236.2	37	c.1800C>A	CCDS42723.1																																																																																				0.756	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		3	35	1	0	6.4e-05	1	6.98007e-05	3	35				
COL4A3	1285	broad.mit.edu	37	2	228118290	228118290	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:228118290T>C	ENST00000396578.3	+	13	863	c.701T>C	c.(700-702)tTa>tCa	p.L234S	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000606119.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	234	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GTGAAAGGGTTAACAGGACCC	0.433																																						ENST00000396578.3																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(700-702)tTa>tCa		collagen, type IV, alpha 3 (Goodpasture antigen)							285.0	260.0	268.0					2																	228118290		1880	4099	5979	SO:0001583	missense	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228118290T>C		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.701T>C	2.37:g.228118290T>C	ENSP00000379823:p.Leu234Ser					AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA	p.L234S	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	13	863	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	234			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	c.701T>C	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	T	17.93	3.509564	0.64522	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.93019	-3.15	5.74	5.74	0.90152	.	0.000000	0.43110	D	0.000617	D	0.93893	0.8046	L	0.35487	1.065	0.34240	D	0.677533	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.85130	0.986;0.994;0.997;0.994	D	0.95103	0.8232	10	0.35671	T	0.21	.	12.421	0.55520	0.0:0.0:0.0:1.0	.	234;234;234;234	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	S	234	ENSP00000379823:L234S	ENSP00000323334:L234S	L	+	2	0	COL4A3	227826534	0.978000	0.34361	0.881000	0.34555	0.907000	0.53573	2.630000	0.46494	2.187000	0.69744	0.533000	0.62120	TTA		0.433	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		54	191	0	0	0	1	0	54	191				
PRDM14	63978	broad.mit.edu	37	8	70980501	70980501	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:70980501T>A	ENST00000276594.2	-	4	1077	c.876A>T	c.(874-876)gaA>gaT	p.E292D		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	292	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			AGGTCTTCACTTCACTGGCAT	0.483																																					NSCLC(129;99 1813 5906 40656 46114)	ENST00000276594.2																			0				NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(874-876)gaA>gaT		PR domain containing 14							142.0	126.0	132.0					8																	70980501		2203	4300	6503	SO:0001583	missense	63978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:70980501T>A	AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"""Zinc fingers, C2H2-type"""	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.876A>T	8.37:g.70980501T>A	ENSP00000276594:p.Glu292Asp						p.E292D	NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)		4	1077	-	Breast(64;0.193)		292			SET.		Q86UX9	Missense_Mutation	SNP	ENST00000276594.2	37	c.876A>T	CCDS6206.1	.	.	.	.	.	.	.	.	.	.	T	17.05	3.289924	0.59976	.	.	ENSG00000147596	ENST00000276594	T	0.72615	-0.67	5.8	3.29	0.37713	SET domain (3);	0.000000	0.85682	D	0.000000	T	0.70351	0.3214	L	0.38649	1.16	0.53688	D	0.99997	D	0.89917	1.0	D	0.77557	0.99	T	0.70392	-0.4884	10	0.48119	T	0.1	-26.1338	2.5676	0.04787	0.0:0.2172:0.2726:0.5102	.	292	Q9GZV8	PRD14_HUMAN	D	292	ENSP00000276594:E292D	ENSP00000276594:E292D	E	-	3	2	PRDM14	71143055	1.000000	0.71417	0.965000	0.40720	0.118000	0.20060	2.491000	0.45303	2.209000	0.71365	0.533000	0.62120	GAA		0.483	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1			39	95	0	0	0	1	0	39	95				
FAM193A	8603	broad.mit.edu	37	4	2661771	2661771	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:2661771G>A	ENST00000324666.5	+	8	1213	c.862G>A	c.(862-864)Gca>Aca	p.A288T	FAM193A_ENST00000505311.1_Missense_Mutation_p.A288T|FAM193A_ENST00000502458.1_Missense_Mutation_p.A312T|FAM193A_ENST00000545951.1_Missense_Mutation_p.A288T|FAM193A_ENST00000382839.3_Missense_Mutation_p.A288T	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	288										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						CAGTGGCTCGGCACCAACTTT	0.493																																						ENST00000324666.5																			0				NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						c.(862-864)Gca>Aca		family with sequence similarity 193, member A							36.0	36.0	36.0					4																	2661771		2203	4300	6503	SO:0001583	missense	8603							g.chr4:2661771G>A	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.862G>A	4.37:g.2661771G>A	ENSP00000324587:p.Ala288Thr					FAM193A_ENST00000382839.3_Missense_Mutation_p.A288T|FAM193A_ENST00000545951.1_Missense_Mutation_p.A288T|FAM193A_ENST00000502458.1_Missense_Mutation_p.A312T|FAM193A_ENST00000505311.1_Missense_Mutation_p.A288T	p.A288T	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN			8	1213	+			288					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	ENST00000324666.5	37	c.862G>A	CCDS58875.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.839930	0.71488	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458;ENST00000513350	T;T;T;T;T	0.32272	1.46;1.88;1.46;1.46;1.46	5.63	5.63	0.86233	.	0.153676	0.64402	D	0.000020	T	0.26159	0.0638	N	0.20685	0.6	0.43863	D	0.99646	P;P;P;P;P	0.46142	0.873;0.873;0.763;0.763;0.763	B;B;B;B;B	0.42361	0.385;0.385;0.311;0.242;0.311	T	0.01617	-1.1311	10	0.39692	T	0.17	-9.6336	19.0192	0.92906	0.0:0.0:1.0:0.0	.	288;312;288;312;288	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	T	288;288;288;312;142	ENSP00000372290:A288T;ENSP00000324587:A288T;ENSP00000443617:A288T;ENSP00000427505:A312T;ENSP00000427260:A142T	ENSP00000324587:A288T	A	+	1	0	FAM193A	2631569	1.000000	0.71417	0.587000	0.28692	0.877000	0.50540	4.501000	0.60393	2.802000	0.96397	0.561000	0.74099	GCA		0.493	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		15	41	0	0	0	1	0	15	41				
OR52L1	338751	broad.mit.edu	37	11	6007248	6007248	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:6007248G>T	ENST00000332249.4	-	1	967	c.913C>A	c.(913-915)Ctc>Atc	p.L305I		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAGGATTGAGCGCAGGTGGC	0.478																																					Melanoma(121;653 1666 10547 22796 51255)	ENST00000332249.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30						c.(913-915)Ctc>Atc		olfactory receptor, family 52, subfamily L, member 1							67.0	67.0	67.0					11																	6007248		2074	4231	6305	SO:0001583	missense	338751				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6007248G>T	AB065819	CCDS44529.1	11p15.4	2012-08-09			ENSG00000183313	ENSG00000183313		"""GPCR / Class A : Olfactory receptors"""	14785	protein-coding gene	gene with protein product							Standard	NM_001005173		Approved		uc001mcd.2	Q8NGH7	OTTHUMG00000165374	ENST00000332249.4:c.913C>A	11.37:g.6007248G>T	ENSP00000330338:p.Leu305Ile						p.L305I	NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	967	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	305					B2RPA6|Q6IFK9	Missense_Mutation	SNP	ENST00000332249.4	37	c.913C>A	CCDS44529.1	.	.	.	.	.	.	.	.	.	.	G	2.613	-0.290380	0.05568	.	.	ENSG00000183313	ENST00000332249	T	0.44083	0.93	3.57	2.62	0.31277	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39274	N	0.001411	T	0.38957	0.1060	M	0.74258	2.255	0.09310	N	0.999994	B	0.25719	0.132	B	0.28232	0.087	T	0.44283	-0.9338	10	0.72032	D	0.01	.	3.7165	0.08439	0.2108:0.2247:0.5644:0.0	.	305	Q8NGH7	O52L1_HUMAN	I	305	ENSP00000330338:L305I	ENSP00000330338:L305I	L	-	1	0	OR52L1	5963824	0.001000	0.12720	0.181000	0.23098	0.030000	0.12068	-0.211000	0.09332	0.790000	0.33803	0.313000	0.20887	CTC		0.478	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383754.1	NM_001005173		8	25	1	0	5.18039e-06	1	5.82983e-06	8	25				
BAG2	9532	broad.mit.edu	37	6	57048775	57048775	+	Silent	SNP	A	A	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:57048775A>G	ENST00000370693.5	+	3	795	c.423A>G	c.(421-423)gcA>gcG	p.A141A	BAG2_ENST00000545080.1_Silent_p.A108A	NM_004282.3	NP_004273.1	O95816	BAG2_HUMAN	BCL2-associated athanogene 2	141	BAG. {ECO:0000255|PROSITE- ProRule:PRU00369}.				protein folding (GO:0006457)|protein metabolic process (GO:0019538)		identical protein binding (GO:0042802)			endometrium(1)|large_intestine(1)	2	Lung NSC(77;0.126)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TCTACAGTGCATGTTCATCTG	0.403																																						ENST00000370693.5																			0				endometrium(1)|large_intestine(1)	2						c.(421-423)gcA>gcG		BCL2-associated athanogene 2							135.0	129.0	131.0					6																	57048775		2203	4300	6503	SO:0001819	synonymous_variant	9532				apoptosis|protein folding		protein binding	g.chr6:57048775A>G	AF095192	CCDS4961.1	6p12.3-p11.2	2008-02-05			ENSG00000112208	ENSG00000112208			938	protein-coding gene	gene with protein product		603882				9873016	Standard	NM_004282		Approved		uc003pdr.3	O95816	OTTHUMG00000014919	ENST00000370693.5:c.423A>G	6.37:g.57048775A>G						BAG2_ENST00000545080.1_Silent_p.A108A	p.A141A	NM_004282.3	NP_004273.1	O95816	BAG2_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		3	795	+	Lung NSC(77;0.126)		141			BAG.		B4DXE2|Q08AS9|Q6FID0	Silent	SNP	ENST00000370693.5	37	c.423A>G	CCDS4961.1																																																																																				0.403	BAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041044.2			34	154	0	0	0	1	0	34	154				
NEUROG2	63973	broad.mit.edu	37	4	113436008	113436008	+	Silent	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:113436008G>A	ENST00000313341.3	-	2	950	c.624C>T	c.(622-624)ccC>ccT	p.P208P	RP11-402J6.1_ENST00000506057.1_RNA|RP11-402J6.1_ENST00000504009.1_RNA	NM_024019.3	NP_076924.1	Q9H2A3	NGN2_HUMAN	neurogenin 2	208	Ser-rich.				axon guidance (GO:0007411)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	E-box binding (GO:0070888)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		AGGCGGGCGAGGGGCTGTCTC	0.721																																						ENST00000313341.3																			0				central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12						c.(622-624)ccC>ccT		neurogenin 2							22.0	26.0	24.0					4																	113436008		2197	4293	6490	SO:0001819	synonymous_variant	63973				positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding	g.chr4:113436008G>A	AF303002	CCDS3698.1	4q25	2013-05-21			ENSG00000178403	ENSG00000178403		"""Basic helix-loop-helix proteins"""	13805	protein-coding gene	gene with protein product		606624					Standard	NM_024019		Approved	Atoh4, Math4A, ngn-2, bHLHa8, NGN2	uc003ias.3	Q9H2A3	OTTHUMG00000132907	ENST00000313341.3:c.624C>T	4.37:g.113436008G>A							p.P208P	NM_024019.3	NP_076924.1	Q9H2A3	NGN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00168)	2	950	-		Ovarian(17;0.156)	208			Ser-rich.		Q8N416	Silent	SNP	ENST00000313341.3	37	c.624C>T	CCDS3698.1																																																																																				0.721	NEUROG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256414.1	NM_024019		5	22	0	0	0	1	0	5	22				
ZNF142	7701	broad.mit.edu	37	2	219507194	219507194	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:219507194T>C	ENST00000449707.1	-	8	4466	c.4045A>G	c.(4045-4047)Aaa>Gaa	p.K1349E	ZNF142_ENST00000411696.2_Missense_Mutation_p.K1349E	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1349					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(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GGGTGCTGTTTACGGGTGTGT	0.657																																					Colon(170;867 1942 8995 15834 18053)	ENST00000411696.2																			0				breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(4045-4047)Aaa>Gaa		zinc finger protein 142							23.0	28.0	26.0					2																	219507194		2118	4245	6363	SO:0001583	missense	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219507194T>C	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.4045A>G	2.37:g.219507194T>C	ENSP00000408643:p.Lys1349Glu					ZNF142_ENST00000449707.1_Missense_Mutation_p.K1349E	p.K1349E			P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	7	4824	-		Renal(207;0.0474)	1349					Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	c.4045A>G	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	T	14.79	2.641982	0.47153	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.28255	1.62;1.62	5.35	2.9	0.33743	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.142736	0.64402	D	0.000005	T	0.40694	0.1127	L	0.48986	1.54	0.09310	N	1	D;D	0.69078	0.997;0.997	D;D	0.73380	0.98;0.98	T	0.25779	-1.0122	10	0.11485	T	0.65	-12.3309	8.6853	0.34234	0.128:0.0:0.1344:0.7376	.	1349;1186	P52746;A8MWU9	ZN142_HUMAN;.	E	1349	ENSP00000408643:K1349E;ENSP00000398798:K1349E	ENSP00000398798:K1349E	K	-	1	0	ZNF142	219215438	0.975000	0.34042	0.131000	0.22000	0.960000	0.62799	2.355000	0.44107	0.450000	0.26774	-0.301000	0.09380	AAA		0.657	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		16	52	0	0	0	1	0	16	52				
UFM1	51569	broad.mit.edu	37	13	38924169	38924169	+	Silent	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr13:38924169G>T	ENST00000239878.4	+	2	75	c.36G>T	c.(34-36)tcG>tcT	p.S12S	UFM1_ENST00000379641.1_5'Flank|UFM1_ENST00000379649.1_5'UTR	NM_016617.2	NP_057701.1	P61960	UFM1_HUMAN	ubiquitin-fold modifier 1	12				S -> W (in Ref. 7; CAA94181). {ECO:0000305}.	protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				lung(2)|ovary(1)	3		Lung NSC(96;3.18e-06)|Prostate(109;0.00314)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;1.05e-08)|Epithelial(112;1.44e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000855)|BRCA - Breast invasive adenocarcinoma(63;0.00342)|GBM - Glioblastoma multiforme(144;0.0132)		CGCTGACGTCGGACCCACGGC	0.587																																						ENST00000239878.4																			0				lung(2)|ovary(1)	3						c.(34-36)tcG>tcT		ubiquitin-fold modifier 1							90.0	87.0	88.0					13																	38924169		2203	4300	6503	SO:0001819	synonymous_variant	51569				protein ufmylation	cytoplasm|nucleus	protein binding	g.chr13:38924169G>T	AF208844	CCDS9366.1, CCDS66533.1	13q13.3	2008-02-05	2005-05-27	2005-05-27	ENSG00000120686	ENSG00000120686			20597	protein-coding gene	gene with protein product		610553	"""chromosome 13 open reading frame 20"""	C13orf20		15071506	Standard	NM_001286706		Approved	bA131P10.1	uc001uwu.3	P61960	OTTHUMG00000017409	ENST00000239878.4:c.36G>T	13.37:g.38924169G>T						UFM1_ENST00000379649.1_5'UTR	p.S12S	NM_016617.2	NP_057701.1	P61960	UFM1_HUMAN		all cancers(112;1.05e-08)|Epithelial(112;1.44e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000855)|BRCA - Breast invasive adenocarcinoma(63;0.00342)|GBM - Glioblastoma multiforme(144;0.0132)	2	75	+		Lung NSC(96;3.18e-06)|Prostate(109;0.00314)|Breast(139;0.0199)|Lung SC(185;0.0743)	12	S -> W (in Ref. 7; CAA94181).				Q14346|Q5VXS0|Q6IAG6|Q9CPX2|Q9NZF2	Silent	SNP	ENST00000239878.4	37	c.36G>T	CCDS9366.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.907980	0.33721	.	.	ENSG00000120686	ENST00000437952	.	.	.	4.96	-0.4	0.12411	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7482	0.46194	0.0:0.5612:0.2953:0.1435	.	.	.	.	X	13	.	.	G	+	1	0	UFM1	37822169	1.000000	0.71417	0.993000	0.49108	0.995000	0.86356	0.440000	0.21592	-0.316000	0.08690	0.650000	0.86243	GGA		0.587	UFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045989.1	NM_016617		26	85	1	0	1.32003e-05	1	1.46628e-05	26	85				
SH2D4A	63898	broad.mit.edu	37	8	19190565	19190565	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:19190565G>T	ENST00000265807.3	+	3	692	c.281G>T	c.(280-282)tGt>tTt	p.C94F	SH2D4A_ENST00000519207.1_Missense_Mutation_p.C94F|SH2D4A_ENST00000518040.1_Missense_Mutation_p.C49F	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	94					negative regulation of phosphatase activity (GO:0010923)	cytoplasm (GO:0005737)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		GATGTGCTCTGTAATGAAATT	0.473																																						ENST00000265807.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16						c.(280-282)tGt>tTt		SH2 domain containing 4A							117.0	115.0	116.0					8																	19190565		2203	4300	6503	SO:0001583	missense	63898					cytoplasm|nucleus	protein binding	g.chr8:19190565G>T	AY190323	CCDS6009.1, CCDS55206.1	8p21	2013-02-14			ENSG00000104611	ENSG00000104611		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	26102	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 38"""	614968					Standard	NM_022071		Approved	FLJ20967, SH2A, PPP1R38	uc003wzc.3	Q9H788	OTTHUMG00000097005	ENST00000265807.3:c.281G>T	8.37:g.19190565G>T	ENSP00000265807:p.Cys94Phe					SH2D4A_ENST00000518040.1_Missense_Mutation_p.C49F|SH2D4A_ENST00000519207.1_Missense_Mutation_p.C94F	p.C94F	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN		Colorectal(111;0.0732)	3	692	+			94					B4DDR1|Q5XKC1|Q6NXE9|Q86YM2|Q96C88|Q9H7F7	Missense_Mutation	SNP	ENST00000265807.3	37	c.281G>T	CCDS6009.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905652	0.52333	.	.	ENSG00000104611	ENST00000265807;ENST00000518040;ENST00000519207;ENST00000523736	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.49712	0.1573	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.51593	-0.8686	10	0.87932	D	0	.	17.076	0.86586	0.0:0.0:1.0:0.0	.	49;94	B4DDR1;Q9H788	.;SH24A_HUMAN	F	94;49;94;80	ENSP00000265807:C94F;ENSP00000429482:C49F;ENSP00000428684:C94F;ENSP00000428048:C80F	ENSP00000265807:C94F	C	+	2	0	SH2D4A	19234845	1.000000	0.71417	0.951000	0.38953	0.180000	0.23129	7.370000	0.79589	2.633000	0.89246	0.455000	0.32223	TGT		0.473	SH2D4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214094.1	NM_022071		25	100	1	0	5.35356e-11	1	6.77532e-11	25	100				
MFN1	55669	broad.mit.edu	37	3	179082104	179082104	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:179082104A>G	ENST00000471841.1	+	6	682	c.556A>G	c.(556-558)Aca>Gca	p.T186A	MFN1_ENST00000263969.5_Missense_Mutation_p.T186A|MFN1_ENST00000280653.7_Missense_Mutation_p.T186A	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	186	Dynamin-type G.				mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			AGATGTCACTACAGAGCTGGA	0.323																																						ENST00000471841.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31						c.(556-558)Aca>Gca		mitofusin 1							132.0	122.0	125.0					3																	179082104		2203	4300	6503	SO:0001583	missense	55669				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	g.chr3:179082104A>G	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.556A>G	3.37:g.179082104A>G	ENSP00000420617:p.Thr186Ala					MFN1_ENST00000263969.5_Missense_Mutation_p.T186A|MFN1_ENST00000280653.7_Missense_Mutation_p.T186A	p.T186A	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		6	682	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		186					B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Missense_Mutation	SNP	ENST00000471841.1	37	c.556A>G	CCDS3228.1	.	.	.	.	.	.	.	.	.	.	A	15.08	2.727411	0.48833	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000263969;ENST00000489329;ENST00000474903	D;D;D;D;D	0.97455	-4.1;-4.1;-4.1;-4.39;-4.39	5.24	5.24	0.73138	Dynamin, GTPase domain (1);	0.048735	0.85682	D	0.000000	D	0.93307	0.7867	N	0.08118	0	0.50813	D	0.999893	P;P;P	0.40431	0.717;0.698;0.698	B;B;P	0.46510	0.352;0.438;0.519	D	0.92482	0.5993	10	0.17832	T	0.49	-18.6992	15.4314	0.75102	1.0:0.0:0.0:0.0	.	186;214;186	Q8IWA4-3;Q4AEJ4;Q8IWA4	.;.;MFN1_HUMAN	A	186;186;186;186;39;49	ENSP00000420617:T186A;ENSP00000280653:T186A;ENSP00000263969:T186A;ENSP00000420148:T39A;ENSP00000419926:T49A	ENSP00000263969:T186A	T	+	1	0	MFN1	180564798	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.594000	0.74104	2.111000	0.64477	0.528000	0.53228	ACA		0.323	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927		12	95	0	0	0	1	0	12	95				
DHX32	55760	broad.mit.edu	37	10	127526851	127526851	+	Missense_Mutation	SNP	C	C	G	rs377344904		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:127526851C>G	ENST00000284690.3	-	10	2477	c.1987G>C	c.(1987-1989)Gag>Cag	p.E663Q	DHX32_ENST00000284688.6_Missense_Mutation_p.E582Q|BCCIP_ENST00000299130.3_Intron|BCCIP_ENST00000429863.2_Intron|BCCIP_ENST00000368759.5_Intron|DHX32_ENST00000368721.1_Missense_Mutation_p.E287Q	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	663						mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AGGACCCACTCTGGCATCTTC	0.438																																						ENST00000284690.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29						c.(1987-1989)Gag>Cag		DEAH (Asp-Glu-Ala-His) box polypeptide 32		C	GLN/GLU,,	1,4405	2.1+/-5.4	0,1,2202	138.0	132.0	134.0		1987,,	5.1	1.0	10		134	0,8600		0,0,4300	no	missense,intron,intron	DHX32,BCCIP	NM_018180.2,NM_016567.3,NM_078469.2	29,,	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	probably-damaging,,	663/744,,	127526851	1,13005	2203	4300	6503	SO:0001583	missense	55760					mitochondrion|nucleus	ATP binding|helicase activity	g.chr10:127526851C>G		CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"""DEAH-boxes"""	16717	protein-coding gene	gene with protein product		607960	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"""	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.1987G>C	10.37:g.127526851C>G	ENSP00000284690:p.Glu663Gln					BCCIP_ENST00000299130.3_Intron|BCCIP_ENST00000368759.5_Intron|BCCIP_ENST00000429863.2_Intron|DHX32_ENST00000284688.6_Missense_Mutation_p.E582Q|DHX32_ENST00000368721.1_Missense_Mutation_p.E287Q	p.E663Q	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN			10	2477	-		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)	663					A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Missense_Mutation	SNP	ENST00000284690.3	37	c.1987G>C	CCDS7652.1	.	.	.	.	.	.	.	.	.	.	C	32	5.117672	0.94385	2.27E-4	0.0	ENSG00000089876	ENST00000368721;ENST00000284690;ENST00000284688	T;T;T	0.19806	2.12;3.93;3.63	5.09	5.09	0.68999	Domain of unknown function DUF1605 (1);	0.000000	0.85682	D	0.000000	T	0.47783	0.1464	M	0.71206	2.165	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.50491	-0.8822	10	0.87932	D	0	-31.5269	17.5019	0.87734	0.0:1.0:0.0:0.0	.	663	Q7L7V1	DHX32_HUMAN	Q	287;663;582	ENSP00000357710:E287Q;ENSP00000284690:E663Q;ENSP00000284688:E582Q	ENSP00000284688:E582Q	E	-	1	0	DHX32	127516841	1.000000	0.71417	0.992000	0.48379	0.981000	0.71138	4.670000	0.61583	2.363000	0.80096	0.561000	0.74099	GAG		0.438	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050945.2	NM_018180		35	138	0	0	0	1	0	35	138				
NTRK3	4916	broad.mit.edu	37	15	88678435	88678435	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr15:88678435C>A	ENST00000360948.2	-	9	1262	c.1101G>T	c.(1099-1101)aaG>aaT	p.K367N	NTRK3_ENST00000317501.3_Missense_Mutation_p.K367N|NTRK3_ENST00000355254.2_Missense_Mutation_p.K367N|NTRK3_ENST00000394480.2_Missense_Mutation_p.K367N|NTRK3_ENST00000540489.2_Missense_Mutation_p.K367N|NTRK3_ENST00000357724.2_Missense_Mutation_p.K367N|NTRK3_ENST00000557856.1_Missense_Mutation_p.K367N|NTRK3_ENST00000558676.1_Missense_Mutation_p.K367N|NTRK3_ENST00000542733.2_Missense_Mutation_p.K269N	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	367	Ig-like C2-type 2.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGTGGGTGGGCTTGTTGAAGA	0.537			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												ENST00000394480.1				Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		"""congenital fibrosarcoma, Secretory breast """	ETV6/NTRK3(238)	0				breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119						c.(1099-1101)aaG>aaT		neurotrophic tyrosine kinase, receptor, type 3							259.0	235.0	243.0					15																	88678435		2201	4299	6500	SO:0001583	missense	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88678435C>A	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1101G>T	15.37:g.88678435C>A	ENSP00000354207:p.Lys367Asn	TSP Lung(13;0.10)				NTRK3_ENST00000542733.2_Missense_Mutation_p.K269N|NTRK3_ENST00000558676.1_Missense_Mutation_p.K367N|NTRK3_ENST00000557856.1_Missense_Mutation_p.K367N|NTRK3_ENST00000540489.2_Missense_Mutation_p.K367N|NTRK3_ENST00000355254.2_Missense_Mutation_p.K367N|NTRK3_ENST00000360948.2_Missense_Mutation_p.K367N|NTRK3_ENST00000357724.2_Missense_Mutation_p.K367N|NTRK3_ENST00000317501.3_Missense_Mutation_p.K367N	p.K367N	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		10	1422	-			367			Ig-like C2-type 2.		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	c.1101G>T	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	C	8.027	0.760802	0.15914	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000540489;ENST00000317501	T;T;T;T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48;-0.48;-0.48;-0.48	5.02	5.02	0.67125	Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.094221	0.64402	D	0.000001	T	0.45816	0.1361	N	0.04959	-0.14	0.43130	D	0.994861	B;B;B;B;B;B	0.11235	0.001;0.001;0.001;0.004;0.001;0.001	B;B;B;B;B;B	0.13407	0.004;0.007;0.009;0.005;0.004;0.006	T	0.43081	-0.9413	10	0.11182	T	0.66	.	10.8595	0.46819	0.0:0.9033:0.0:0.0967	.	269;367;367;367;367;367	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	N	367;367;367;367;269;367;367	ENSP00000377990:K367N;ENSP00000354207:K367N;ENSP00000350356:K367N;ENSP00000347397:K367N;ENSP00000437773:K269N;ENSP00000444673:K367N;ENSP00000318328:K367N	ENSP00000318328:K367N	K	-	3	2	NTRK3	86479439	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.353000	0.34045	2.324000	0.78689	0.563000	0.77884	AAG		0.537	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				28	102	1	0	1.5548e-18	1	2.21459e-18	28	102				
SOS1	6654	broad.mit.edu	37	2	39294839	39294839	+	Missense_Mutation	SNP	A	A	G	rs373898570		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:39294839A>G	ENST00000426016.1	-	3	229	c.143T>C	c.(142-144)gTt>gCt	p.V48A	SOS1_ENST00000402219.2_Missense_Mutation_p.V48A|SOS1_ENST00000428721.2_5'UTR|SOS1_ENST00000395038.2_Missense_Mutation_p.V48A			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	48					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|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)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TAATTCTTCAACATACTGAAG	0.358									Noonan syndrome																													ENST00000426016.1																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75						c.(142-144)gTt>gCt		son of sevenless homolog 1 (Drosophila)		A	ALA/VAL	0,4406		0,0,2203	134.0	146.0	142.0		143	5.5	1.0	2		142	2,8598	2.2+/-6.3	0,2,4298	no	missense	SOS1	NM_005633.3	64	0,2,6501	GG,GA,AA		0.0233,0.0,0.0154	probably-damaging	48/1334	39294839	2,13004	2203	4300	6503	SO:0001583	missense	6654	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39294839A>G	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.143T>C	2.37:g.39294839A>G	ENSP00000387784:p.Val48Ala					SOS1_ENST00000395038.2_Missense_Mutation_p.V48A|SOS1_ENST00000428721.2_5'UTR|SOS1_ENST00000402219.2_Missense_Mutation_p.V48A	p.V48A			Q07889	SOS1_HUMAN			3	229	-		all_hematologic(82;0.21)	48					A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	c.143T>C	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	A	28.7	4.945257	0.92593	0.0	2.33E-4	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000395038;ENST00000263879	D;D;D	0.85013	-1.93;-1.93;-1.93	5.54	5.54	0.83059	Histone-fold (1);	0.062102	0.64402	D	0.000004	D	0.87857	0.6283	M	0.68317	2.08	0.80722	D	1	P	0.42039	0.769	P	0.47430	0.547	D	0.89218	0.3569	10	0.87932	D	0	.	15.6813	0.77371	1.0:0.0:0.0:0.0	.	48	Q07889	SOS1_HUMAN	A	48	ENSP00000387784:V48A;ENSP00000384675:V48A;ENSP00000378479:V48A	ENSP00000263879:V48A	V	-	2	0	SOS1	39148343	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.292000	0.89930	2.111000	0.64477	0.450000	0.29827	GTT		0.358	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		57	230	0	0	0	1	0	57	230				
CRYBB3	1417	broad.mit.edu	37	22	25601305	25601305	+	Missense_Mutation	SNP	C	C	A	rs534419819	byFrequency	TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr22:25601305C>A	ENST00000215855.2	+	5	526	c.446C>A	c.(445-447)gCg>gAg	p.A149E	CRYBB3_ENST00000404334.1_Intron	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3	149	Beta/gamma crystallin 'Greek key' 3. {ECO:0000255|PROSITE-ProRule:PRU00028}.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			large_intestine(2)|lung(2)|prostate(1)	5						GACCGTGTGGCGAGTGTCCGT	0.582																																						ENST00000215855.2																			0				large_intestine(2)|lung(2)|prostate(1)	5						c.(445-447)gCg>gAg		crystallin, beta B3							98.0	76.0	83.0					22																	25601305		2203	4300	6503	SO:0001583	missense	1417				visual perception		protein binding|structural constituent of eye lens	g.chr22:25601305C>A		CCDS13830.1	22q11.23	2008-06-10			ENSG00000100053	ENSG00000100053			2400	protein-coding gene	gene with protein product		123630		CRYB3		8999933	Standard	NM_004076		Approved		uc003abo.2	P26998	OTTHUMG00000150869	ENST00000215855.2:c.446C>A	22.37:g.25601305C>A	ENSP00000215855:p.Ala149Glu					CRYBB3_ENST00000404334.1_Intron	p.A149E	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN			5	526	+			149			Beta/gamma crystallin 'Greek key' 3.		Q3B7S9|Q3T1B7|Q6ISK6|Q92965|Q9UH09	Missense_Mutation	SNP	ENST00000215855.2	37	c.446C>A	CCDS13830.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.583442	0.86748	.	.	ENSG00000100053	ENST00000215855	T	0.75589	-0.95	5.2	4.16	0.48862	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.053190	0.85682	D	0.000000	D	0.83848	0.5343	M	0.73217	2.22	0.80722	D	1	D	0.60160	0.987	D	0.68192	0.956	D	0.84160	0.0428	10	0.45353	T	0.12	.	14.3744	0.66862	0.0:0.8507:0.1493:0.0	.	149	P26998	CRBB3_HUMAN	E	149	ENSP00000215855:A149E	ENSP00000215855:A149E	A	+	2	0	CRYBB3	23931305	1.000000	0.71417	0.986000	0.45419	0.969000	0.65631	4.151000	0.58105	1.162000	0.42619	0.555000	0.69702	GCG		0.582	CRYBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320352.1	NM_004076		4	33	1	0	0.000602214	1	0.000631671	4	33				
COL27A1	85301	broad.mit.edu	37	9	116931743	116931743	+	Splice_Site	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:116931743G>T	ENST00000356083.3	+	3	2299	c.1908G>T	c.(1906-1908)ccG>ccT	p.P636P		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	636	Collagen-like 1.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GTGGCTTGCCGGTAAGACTGA	0.597																																						ENST00000356083.3																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.e3+1		collagen, type XXVII, alpha 1							37.0	39.0	39.0					9																	116931743		2203	4298	6501	SO:0001630	splice_region_variant	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:116931743G>T	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.1908+1G>T	9.37:g.116931743G>T							p.P636_splice	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			3	2299	+			636			Collagen-like 1.|Pro-rich.|Triple-helical region.		Q66K43|Q96JF7	Splice_Site	SNP	ENST00000356083.3	37	c.1908_splice	CCDS6802.1																																																																																				0.597	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888	Silent	21	92	1	0	1.50039e-11	1	1.91139e-11	21	92				
DCAF12L1	139170	broad.mit.edu	37	X	125686073	125686073	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chrX:125686073G>C	ENST00000371126.1	-	1	761	c.519C>G	c.(517-519)agC>agG	p.S173R		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	173										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						AGATGGCCAGGCTGTTGGGGT	0.662																																						ENST00000371126.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(517-519)agC>agG		DDB1 and CUL4 associated factor 12-like 1							64.0	65.0	65.0					X																	125686073		2202	4300	6502	SO:0001583	missense	139170							g.chrX:125686073G>C	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.519C>G	X.37:g.125686073G>C	ENSP00000360167:p.Ser173Arg						p.S173R	NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN			1	761	-			173					Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	c.519C>G	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.863984	0.51482	.	.	ENSG00000198889	ENST00000371126	T	0.45668	0.89	3.67	-0.165	0.13355	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.38959	N	0.001502	T	0.54447	0.1859	M	0.71581	2.175	0.28087	N	0.931968	D	0.76494	0.999	D	0.83275	0.996	T	0.46898	-0.9158	10	0.40728	T	0.16	.	6.3751	0.21503	0.4943:0.0:0.5057:0.0	.	173	Q5VU92	DC121_HUMAN	R	173	ENSP00000360167:S173R	ENSP00000360167:S173R	S	-	3	2	DCAF12L1	125513754	1.000000	0.71417	0.842000	0.33263	0.823000	0.46562	2.363000	0.44178	-0.178000	0.10672	0.429000	0.28392	AGC		0.662	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		20	27	0	0	0	1	0	20	27				
DYSF	8291	broad.mit.edu	37	2	71709054	71709054	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:71709054G>T	ENST00000258104.3	+	3	467	c.190G>T	c.(190-192)Gag>Tag	p.E64*	DYSF_ENST00000409744.1_Nonsense_Mutation_p.E65*|DYSF_ENST00000409366.1_Nonsense_Mutation_p.E65*|DYSF_ENST00000429174.2_Nonsense_Mutation_p.E64*|DYSF_ENST00000409651.1_Nonsense_Mutation_p.E65*|DYSF_ENST00000394120.2_Nonsense_Mutation_p.E65*|DYSF_ENST00000410020.3_Nonsense_Mutation_p.E65*|DYSF_ENST00000410041.1_Nonsense_Mutation_p.E65*|DYSF_ENST00000409762.1_Nonsense_Mutation_p.E64*|DYSF_ENST00000413539.2_Nonsense_Mutation_p.E64*|DYSF_ENST00000409582.3_Nonsense_Mutation_p.E64*	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	64	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCAGGGCTCTGAGCTTCATGT	0.537																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(190-192)Gag>Tag		dysferlin							74.0	74.0	74.0					2																	71709054		2203	4300	6503	SO:0001587	stop_gained	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71709054G>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.190G>T	2.37:g.71709054G>T	ENSP00000258104:p.Glu64*					DYSF_ENST00000409582.3_Nonsense_Mutation_p.E64*|DYSF_ENST00000410041.1_Nonsense_Mutation_p.E65*|DYSF_ENST00000409366.1_Nonsense_Mutation_p.E65*|DYSF_ENST00000413539.2_Nonsense_Mutation_p.E64*|DYSF_ENST00000409744.1_Nonsense_Mutation_p.E65*|DYSF_ENST00000394120.2_Nonsense_Mutation_p.E65*|DYSF_ENST00000409651.1_Nonsense_Mutation_p.E65*|DYSF_ENST00000429174.2_Nonsense_Mutation_p.E64*|DYSF_ENST00000410020.3_Nonsense_Mutation_p.E65*|DYSF_ENST00000409762.1_Nonsense_Mutation_p.E64*	p.E64*	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			3	467	+			64			C2 1.		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Nonsense_Mutation	SNP	ENST00000258104.3	37	c.190G>T	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	40	8.287875	0.98745	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	.	.	.	4.91	4.91	0.64330	.	0.125811	0.51477	D	0.000091	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-15.3839	15.9192	0.79547	0.0:0.0:1.0:0.0	.	.	.	.	X	64;64;64;64;64;65;65;65;65;65;65	.	ENSP00000258104:E64X	E	+	1	0	DYSF	71562562	1.000000	0.71417	0.943000	0.38184	0.959000	0.62525	6.378000	0.73150	2.440000	0.82611	0.563000	0.77884	GAG		0.537	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		17	39	1	0	0.00498961	1	0.00512913	17	39				
TTN	7273	broad.mit.edu	37	2	179587599	179587599	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:179587599G>C	ENST00000591111.1	-	74	21300	c.21076C>G	c.(21076-21078)Caa>Gaa	p.Q7026E	TTN_ENST00000589042.1_Missense_Mutation_p.Q7343E|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q6099E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12610	Ig-like 52.				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)			ACTTGGCATTGTAAAGAAACC	0.438																																						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.(22027-22029)Caa>Gaa		titin							47.0	48.0	48.0					2																	179587599		1979	4161	6140	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179587599G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.21076C>G	2.37:g.179587599G>C	ENSP00000465570:p.Gln7026Glu					TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.Q6099E|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Q7026E	p.Q7343E	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)		76	22251	-			7026			Ig-like 55.		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.22027C>G		.	.	.	.	.	.	.	.	.	.	G	9.857	1.195155	0.22037	.	.	ENSG00000155657	ENST00000342992	T	0.65178	-0.14	5.8	5.8	0.92144	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.40956	0.1138	N	0.01535	-0.81	0.80722	D	1	B	0.16396	0.017	B	0.10450	0.005	T	0.42766	-0.9432	9	0.87932	D	0	.	20.0586	0.97663	0.0:0.0:1.0:0.0	.	7026	Q8WZ42	TITIN_HUMAN	E	6099	ENSP00000343764:Q6099E	ENSP00000343764:Q6099E	Q	-	1	0	TTN	179295844	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.524000	0.45589	2.741000	0.93983	0.650000	0.86243	CAA		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		12	40	0	0	0	1	0	12	40				
SLC12A9	56996	broad.mit.edu	37	7	100451998	100451998	+	Missense_Mutation	SNP	T	T	C	rs371310415		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:100451998T>C	ENST00000354161.3	+	2	304	c.179T>C	c.(178-180)aTt>aCt	p.I60T	SLC12A9_ENST00000415287.1_Missense_Mutation_p.I60T|SLC12A9_ENST00000540482.1_Missense_Mutation_p.I60T|SLC12A9_ENST00000275729.3_Missense_Mutation_p.I60T|RP11-126L15.4_ENST00000412754.1_RNA|SLC12A9_ENST00000428758.1_Missense_Mutation_p.I60T	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	60					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					TTTCTGAGGATTGGTGAGTGG	0.587																																						ENST00000354161.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41						c.(178-180)aTt>aCt		solute carrier family 12, member 9		T	THR/ILE	0,4406		0,0,2203	121.0	122.0	122.0		179	4.5	1.0	7		122	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC12A9	NM_020246.2	89	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign	60/915	100451998	1,13005	2203	4300	6503	SO:0001583	missense	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100451998T>C	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.179T>C	7.37:g.100451998T>C	ENSP00000275730:p.Ile60Thr					SLC12A9_ENST00000415287.1_Missense_Mutation_p.I60T|SLC12A9_ENST00000275729.3_Missense_Mutation_p.I60T|SLC12A9_ENST00000540482.1_Missense_Mutation_p.I60T|SLC12A9_ENST00000428758.1_Missense_Mutation_p.I60T	p.I60T	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN			2	304	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		60					B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Missense_Mutation	SNP	ENST00000354161.3	37	c.179T>C	CCDS5707.1	.	.	.	.	.	.	.	.	.	.	T	12.79	2.044245	0.36085	0.0	1.16E-4	ENSG00000146828	ENST00000540482;ENST00000428758;ENST00000275729;ENST00000415287;ENST00000354161;ENST00000416675;ENST00000434158	D;D;D;D;D;D;D	0.98666	-5.06;-5.06;-2.31;-2.31;-5.06;-2.2;-5.06	4.53	4.53	0.55603	Amino acid permease domain (1);	0.141789	0.45606	D	0.000353	D	0.95056	0.8399	N	0.13235	0.315	0.35612	D	0.808702	B;B	0.29766	0.02;0.256	B;B	0.33960	0.009;0.173	D	0.95492	0.8570	10	0.17832	T	0.49	.	11.8351	0.52319	0.0:0.0:0.0:1.0	.	60;60	Q9BXP2-2;Q9BXP2	.;S12A9_HUMAN	T	60	ENSP00000443702:I60T;ENSP00000408301:I60T;ENSP00000275729:I60T;ENSP00000413796:I60T;ENSP00000275730:I60T;ENSP00000410692:I60T;ENSP00000408571:I60T	ENSP00000275729:I60T	I	+	2	0	SLC12A9	100289934	0.979000	0.34478	1.000000	0.80357	0.886000	0.51366	1.422000	0.34826	1.895000	0.54865	0.334000	0.21626	ATT		0.587	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		10	32	0	0	0	1	0	10	32				
GIT2	9815	broad.mit.edu	37	12	110426817	110426817	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:110426817C>T	ENST00000355312.3	-	4	355	c.356G>A	c.(355-357)cGc>cAc	p.R119H	GIT2_ENST00000343646.5_Missense_Mutation_p.R119H|GIT2_ENST00000354574.4_Missense_Mutation_p.R119H|GIT2_ENST00000338373.5_Missense_Mutation_p.R119H|GIT2_ENST00000551209.1_Missense_Mutation_p.R119H|GIT2_ENST00000361006.5_Missense_Mutation_p.R119H|GIT2_ENST00000547815.1_Missense_Mutation_p.R119H|GIT2_ENST00000320063.9_Missense_Mutation_p.R119H|GIT2_ENST00000457474.2_Missense_Mutation_p.R119H|GIT2_ENST00000553118.1_Missense_Mutation_p.R119H|GIT2_ENST00000356259.4_Missense_Mutation_p.R119H|GIT2_ENST00000360185.4_Missense_Mutation_p.R119H	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	119	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				behavioral response to pain (GO:0048266)|regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						GCAGGGCAAGCGATGGACGAA	0.448																																						ENST00000360185.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						c.(355-357)cGc>cAc		G protein-coupled receptor kinase interacting ArfGAP 2							188.0	188.0	188.0					12																	110426817		2203	4300	6503	SO:0001583	missense	9815				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr12:110426817C>T	AF124491	CCDS9138.1, CCDS9139.1, CCDS44968.1, CCDS44969.1, CCDS55884.1	12q24.1	2013-01-10	2008-09-05			ENSG00000139436		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4273	protein-coding gene	gene with protein product		608564	"""G protein-coupled receptor kinase interactor 2"""			9826657, 10896954	Standard	NM_139201		Approved	KIAA0148	uc001tps.2	Q14161	OTTHUMG00000169313	ENST00000355312.3:c.356G>A	12.37:g.110426817C>T	ENSP00000347464:p.Arg119His					GIT2_ENST00000343646.5_Missense_Mutation_p.R119H|GIT2_ENST00000457474.2_Missense_Mutation_p.R119H|GIT2_ENST00000361006.5_Missense_Mutation_p.R119H|GIT2_ENST00000355312.3_Missense_Mutation_p.R119H|GIT2_ENST00000356259.4_Missense_Mutation_p.R119H|GIT2_ENST00000547815.1_Missense_Mutation_p.R119H|GIT2_ENST00000551209.1_Missense_Mutation_p.R119H|GIT2_ENST00000338373.5_Missense_Mutation_p.R119H|GIT2_ENST00000320063.9_Missense_Mutation_p.R119H|GIT2_ENST00000354574.4_Missense_Mutation_p.R119H|GIT2_ENST00000553118.1_Missense_Mutation_p.R119H	p.R119H			Q14161	GIT2_HUMAN			4	520	-			119			Arf-GAP.		Q86U59|Q96CI2|Q9BV91|Q9Y5V2	Missense_Mutation	SNP	ENST00000355312.3	37	c.356G>A	CCDS9138.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.262052	0.80358	.	.	ENSG00000139436	ENST00000355312;ENST00000360185;ENST00000354574;ENST00000338373;ENST00000343646;ENST00000356259;ENST00000457474;ENST00000361006;ENST00000553118;ENST00000551209;ENST00000542273;ENST00000547815;ENST00000320063;ENST00000551494	T;T;T;T;T;T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91	6.07	5.18	0.71444	Ankyrin repeat-containing domain (1);	0.044709	0.85682	D	0.000000	T	0.49321	0.1550	M	0.88906	2.99	0.80722	D	1	B;B;B;B;P;B;B	0.36944	0.154;0.08;0.065;0.065;0.574;0.08;0.065	B;B;B;B;B;B;B	0.33196	0.077;0.052;0.073;0.073;0.071;0.159;0.046	T	0.58440	-0.7636	10	0.54805	T	0.06	.	13.9053	0.63831	0.0:0.9279:0.0:0.0721	.	119;119;119;119;119;119;119	B4E2E7;Q6FI58;Q14161-10;F8WAK2;Q14161-11;Q14161;Q14161-5	.;.;.;.;.;GIT2_HUMAN;.	H	119;119;119;119;119;119;119;119;119;119;57;119;119;33	ENSP00000347464:R119H;ENSP00000353312:R119H;ENSP00000346585:R119H;ENSP00000340342:R119H;ENSP00000340938:R119H;ENSP00000348595:R119H;ENSP00000391813:R119H;ENSP00000354282:R119H;ENSP00000447465:R119H;ENSP00000448832:R119H;ENSP00000450348:R119H;ENSP00000323833:R119H	ENSP00000323833:R119H	R	-	2	0	GIT2	108911200	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.964000	0.63701	2.890000	0.99128	0.585000	0.79938	CGC		0.448	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403407.1	NM_057169		34	172	0	0	0	1	0	34	172				
DISP1	84976	broad.mit.edu	37	1	223175932	223175932	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:223175932G>C	ENST00000284476.6	+	8	1357	c.1193G>C	c.(1192-1194)tGc>tCc	p.C398S		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	398					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GGGCCAGACTGCTGGGACATG	0.498											OREG0014268|OREG0026708	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000284476.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(1192-1194)tGc>tCc		dispatched homolog 1 (Drosophila)							77.0	69.0	72.0					1																	223175932		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223175932G>C	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.1193G>C	1.37:g.223175932G>C	ENSP00000284476:p.Cys398Ser		OREG0014268|OREG0026708	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2287		p.C398S	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	1357	+			398					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.1193G>C	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003553	0.74932	.	.	ENSG00000154309	ENST00000284476	D	0.99105	-5.43	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.99248	0.9738	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99537	1.0962	10	0.56958	D	0.05	-24.9536	19.0174	0.92900	0.0:0.0:1.0:0.0	.	398	Q96F81	DISP1_HUMAN	S	398	ENSP00000284476:C398S	ENSP00000284476:C398S	C	+	2	0	DISP1	221242555	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.263000	0.95617	2.734000	0.93682	0.650000	0.86243	TGC		0.498	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		17	106	0	0	0	1	0	17	106				
MS4A13	503497	broad.mit.edu	37	11	60296880	60296880	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:60296880G>T	ENST00000378186.2	+	6	672	c.349G>T	c.(349-351)Ggt>Tgt	p.G117C	MS4A13_ENST00000378185.2_Missense_Mutation_p.G77C|MS4A13_ENST00000437058.2_Missense_Mutation_p.G58C|MS4A13_ENST00000527948.1_Intron	NM_001012417.2	NP_001012417.2	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 13	124						integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(1)|lung(2)|skin(2)	8						GTTCTTCTACGGTTTGGAATT	0.348																																						ENST00000378186.2																			0				endometrium(3)|large_intestine(1)|lung(2)|skin(2)	8						c.(349-351)Ggt>Tgt		membrane-spanning 4-domains, subfamily A, member 13							197.0	196.0	197.0					11																	60296880		2203	4299	6502	SO:0001583	missense	503497					integral to membrane		g.chr11:60296880G>T	AY324188	CCDS31571.1, CCDS41653.1, CCDS60801.1	11q12.2	2005-12-05	2005-12-05		ENSG00000204979	ENSG00000204979			16674	protein-coding gene	gene with protein product							Standard	NM_001012417		Approved		uc001nps.3	Q5J8X5	OTTHUMG00000167615	ENST00000378186.2:c.349G>T	11.37:g.60296880G>T	ENSP00000367428:p.Gly117Cys					MS4A13_ENST00000527948.1_Intron|MS4A13_ENST00000437058.2_Missense_Mutation_p.G58C|MS4A13_ENST00000378185.2_Missense_Mutation_p.G77C	p.G117C	NM_001012417.2	NP_001012417.2	Q5J8X5	M4A13_HUMAN			6	672	+			117					E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000378186.2	37	c.349G>T	CCDS31571.1	.	.	.	.	.	.	.	.	.	.	G	6.961	0.547270	0.13312	.	.	ENSG00000204979	ENST00000378186;ENST00000378185;ENST00000437058	T;T;T	0.31769	4.41;1.86;1.48	4.31	-0.373	0.12516	.	1.627250	0.03456	N	0.211496	T	0.15089	0.0364	N	0.08118	0	0.09310	N	1	B;B;B	0.19583	0.037;0.037;0.031	B;B;B	0.15484	0.012;0.007;0.013	T	0.21655	-1.0239	10	0.54805	T	0.06	-23.1578	1.4737	0.02421	0.3362:0.3623:0.1709:0.1306	.	58;77;117	Q5J8X5-3;Q5J8X5-2;Q5J8X5	.;.;M4A13_HUMAN	C	117;77;58	ENSP00000367428:G117C;ENSP00000367427:G77C;ENSP00000415535:G58C	ENSP00000367427:G77C	G	+	1	0	MS4A13	60053456	0.000000	0.05858	0.003000	0.11579	0.000000	0.00434	-1.878000	0.01630	-0.032000	0.13758	-2.244000	0.00286	GGT		0.348	MS4A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395408.1	NM_001012417		13	64	1	0	0.000151284	1	0.000163117	13	64				
C2CD3	26005	broad.mit.edu	37	11	73796924	73796924	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:73796924C>A	ENST00000334126.7	-	21	3875	c.3649G>T	c.(3649-3651)Gct>Tct	p.A1217S	C2CD3_ENST00000313663.7_Missense_Mutation_p.A1217S			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1217	C2 1.				brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TCCCGTTCAGCCAAAGCCCTG	0.478																																						ENST00000334126.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64						c.(3649-3651)Gct>Tct		C2 calcium-dependent domain containing 3							47.0	44.0	45.0					11																	73796924		2200	4293	6493	SO:0001583	missense	26005					centrosome		g.chr11:73796924C>A	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.3649G>T	11.37:g.73796924C>A	ENSP00000334379:p.Ala1217Ser					C2CD3_ENST00000313663.7_Missense_Mutation_p.A1217S	p.A1217S			Q4AC94	C2CD3_HUMAN			21	3875	-	Breast(11;4.16e-06)		1217			C2 1.		C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.3649G>T		.	.	.	.	.	.	.	.	.	.	C	16.49	3.138180	0.56936	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000414160	T;T;T	0.19394	2.4;2.45;2.15	5.8	5.8	0.92144	.	0.062950	0.64402	D	0.000004	T	0.42337	0.1198	L	0.46157	1.445	0.44635	D	0.997614	D	0.89917	1.0	D	0.83275	0.996	T	0.02378	-1.1168	9	.	.	.	-15.0882	19.6402	0.95754	0.0:1.0:0.0:0.0	.	1217	Q4AC94-1	.	S	1217;1217;1217;25	ENSP00000334379:A1217S;ENSP00000323339:A1217S;ENSP00000388750:A25S	.	A	-	1	0	C2CD3	73474572	1.000000	0.71417	1.000000	0.80357	0.243000	0.25628	4.332000	0.59279	2.742000	0.94016	0.655000	0.94253	GCT		0.478	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		7	32	1	0	8.12818e-05	1	8.82554e-05	7	32				
MUM1	84939	broad.mit.edu	37	19	1360487	1360487	+	Silent	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:1360487G>T	ENST00000415183.3	+	4	596	c.570G>T	c.(568-570)ccG>ccT	p.P190P	MUM1_ENST00000591806.1_Silent_p.P190P|MUM1_ENST00000344663.3_Silent_p.P190P|MUM1_ENST00000311401.5_Silent_p.P121P			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	189					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)		CAAGAGGCCCGTTGGTCCTCC	0.527											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.(361-363)ccG>ccT		melanoma associated antigen (mutated) 1							48.0	48.0	48.0					19																	1360487		2203	4300	6503	SO:0001819	synonymous_variant	84939				chromatin organization|DNA repair	nucleus	nucleosome binding|protein binding	g.chr19:1360487G>T	AK075241	CCDS12062.1	19p13.3	2008-02-05				ENSG00000160953			29641	protein-coding gene	gene with protein product						11042152, 7644523	Standard	NM_032853		Approved	MUM-1	uc002lrz.2	Q2TAK8		ENST00000415183.3:c.570G>T	19.37:g.1360487G>T			OREG0025088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	595	MUM1_ENST00000415183.3_Silent_p.P190P|MUM1_ENST00000591806.1_Silent_p.P190P|MUM1_ENST00000344663.3_Silent_p.P190P	p.P121P			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	749	+		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)	189					A1L489|B5ME02|B7ZLY8|J3KQD6|Q13109|Q5XKB9|Q8N2I4|Q96A67	Silent	SNP	ENST00000415183.3	37	c.363G>T																																																																																					0.527	MUM1-016	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000449510.1	NM_032853		16	31	1	0	0.00316338	1	0.00328243	16	31				
PHC1	1911	broad.mit.edu	37	12	9083498	9083498	+	Silent	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:9083498G>T	ENST00000543824.1	+	8	1412	c.1080G>T	c.(1078-1080)gcG>gcT	p.A360A	PHC1_ENST00000433083.2_Silent_p.A315A|PHC1_ENST00000544916.1_Silent_p.A360A|PHC1_ENST00000433847.2_3'UTR|PHC1_ENST00000536844.1_Silent_p.A139A			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	360					cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						CCACACCTGCGCCCAGCCAGA	0.468																																						ENST00000433083.2																			0				breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						c.(943-945)gcG>gcT		polyhomeotic homolog 1 (Drosophila)							25.0	29.0	27.0					12																	9083498		2203	4300	6503	SO:0001819	synonymous_variant	1911				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr12:9083498G>T	U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"""Sterile alpha motif (SAM) domain containing"""	3182	protein-coding gene	gene with protein product		602978	"""early development regulator 1 (homolog of polyhomeotic 1)"", ""polyhomeotic-like 1 (Drosophila)"""	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.1080G>T	12.37:g.9083498G>T						PHC1_ENST00000543824.1_Silent_p.A360A|PHC1_ENST00000544916.1_Silent_p.A360A|PHC1_ENST00000433847.2_3'UTR|PHC1_ENST00000536844.1_Silent_p.A139A	p.A315A			P78364	PHC1_HUMAN			6	1090	+			360					D3DUV4|Q8WVM3|Q9BU63	Silent	SNP	ENST00000543824.1	37	c.945G>T	CCDS8597.1																																																																																				0.468	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399115.1	NM_004426		5	32	1	0	3.59834e-05	1	3.9459e-05	5	32				
SSBP2	23635	broad.mit.edu	37	5	80809485	80809485	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:80809485C>G	ENST00000320672.4	-	5	544	c.334G>C	c.(334-336)Ggc>Cgc	p.G112R	SSBP2_ENST00000505980.1_Missense_Mutation_p.G112R|SSBP2_ENST00000514493.1_Intron|SSBP2_ENST00000509053.1_Intron|SSBP2_ENST00000515395.1_Intron	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	112	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		ACTGGCATGCCATCTCCTGGG	0.448																																						ENST00000320672.4																		SSBP2/JAK2(4)	0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						c.(334-336)Ggc>Cgc		single-stranded DNA binding protein 2							116.0	112.0	114.0					5																	80809485		2203	4300	6503	SO:0001583	missense	23635				regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding	g.chr5:80809485C>G	AF077048	CCDS4056.1, CCDS58960.1, CCDS58961.1, CCDS58962.1, CCDS58963.1, CCDS75268.1	5q14.1	2012-05-25	2001-11-28		ENSG00000145687	ENSG00000145687			15831	protein-coding gene	gene with protein product		607389	"""single-stranded DNA-binding protein 2"""			11230166, 11042152	Standard	NM_001256732		Approved	HSPC116	uc003khp.4	P81877	OTTHUMG00000119039	ENST00000320672.4:c.334G>C	5.37:g.80809485C>G	ENSP00000322977:p.Gly112Arg					SSBP2_ENST00000509053.1_Intron|SSBP2_ENST00000505980.1_Missense_Mutation_p.G112R|SSBP2_ENST00000514493.1_Intron|SSBP2_ENST00000515395.1_Intron	p.G112R	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)	5	544	-		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)	112			Pro-rich.		B2R5W1|B7Z1J2|B7Z2L9|B7Z665|D6RH18|E9PB74|E9PDA8|Q8N2Q2|Q9BWW6|Q9Y4T7	Missense_Mutation	SNP	ENST00000320672.4	37	c.334G>C	CCDS4056.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.973618	0.74246	.	.	ENSG00000145687	ENST00000320672;ENST00000380182;ENST00000504985;ENST00000512923;ENST00000505980;ENST00000509013	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.83184	0.5199	M	0.80982	2.52	0.80722	D	1	D;D	0.76494	0.989;0.999	D;D	0.72338	0.949;0.977	T	0.81116	-0.1079	9	0.38643	T	0.18	-3.6886	20.3172	0.98658	0.0:1.0:0.0:0.0	.	112;112	B7Z1J2;P81877	.;SSBP2_HUMAN	R	112;65;18;18;112;108	.	ENSP00000322977:G112R	G	-	1	0	SSBP2	80845241	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.713000	0.68415	2.801000	0.96364	0.650000	0.86243	GGC		0.448	SSBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239249.1	NM_012446		29	105	0	0	0	1	0	29	105				
FLT1	2321	broad.mit.edu	37	13	28877368	28877368	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr13:28877368A>G	ENST00000282397.4	-	30	4204	c.3953T>C	c.(3952-3954)aTc>aCc	p.I1318T	FLT1_ENST00000540678.1_Missense_Mutation_p.I536T|FLT1_ENST00000543394.1_Missense_Mutation_p.I341T	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1318					blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCAGCACGCGATTTTCCTTTC	0.562																																						ENST00000282397.4																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115						c.(3952-3954)aTc>aCc		fms-related tyrosine kinase 1	Sunitinib(DB01268)						94.0	83.0	87.0					13																	28877368		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28877368A>G	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.3953T>C	13.37:g.28877368A>G	ENSP00000282397:p.Ile1318Thr					FLT1_ENST00000540678.1_Missense_Mutation_p.I536T|FLT1_ENST00000543394.1_Missense_Mutation_p.I341T	p.I1318T	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	30	4204	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	1318					A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.3953T>C	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	A	0.011	-1.719029	0.00700	.	.	ENSG00000102755	ENST00000282397;ENST00000543394;ENST00000540678	T;T;T	0.77229	-0.85;-1.06;-1.08	4.14	1.47	0.22746	.	1.219090	0.05801	N	0.612265	T	0.61800	0.2376	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.39583	-0.9607	10	0.13853	T	0.58	.	3.9832	0.09504	0.588:0.0:0.0941:0.3179	.	1318	P17948	VGFR1_HUMAN	T	1318;341;536	ENSP00000282397:I1318T;ENSP00000437841:I341T;ENSP00000443311:I536T	ENSP00000282397:I1318T	I	-	2	0	FLT1	27775368	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.249000	0.18216	0.119000	0.18210	0.455000	0.32223	ATC		0.562	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			28	54	0	0	0	1	0	28	54				
FAM3B	54097	broad.mit.edu	37	21	42717633	42717633	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr21:42717633G>T	ENST00000357985.2	+	5	513	c.367G>T	c.(367-369)Gca>Tca	p.A123S	FAM3B_ENST00000398647.3_Missense_Mutation_p.A75S|FAM3B_ENST00000398646.3_Missense_Mutation_p.A146S|FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000398652.3_Missense_Mutation_p.A162S	NM_058186.3	NP_478066.3	P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	123					apoptotic process (GO:0006915)|insulin secretion (GO:0030073)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				GAATGTGACAGCAACACGATG	0.338																																						ENST00000398652.3																			0				central_nervous_system(2)|endometrium(1)|lung(2)	5						c.(484-486)Gca>Tca		family with sequence similarity 3, member B							78.0	80.0	79.0					21																	42717633		2203	4300	6503	SO:0001583	missense	54097				apoptosis|insulin secretion	extracellular space	cytokine activity	g.chr21:42717633G>T	AF494379	CCDS13671.1, CCDS42930.1	21q22.3	2014-08-14	2002-05-23	2002-06-20	ENSG00000183844	ENSG00000183844			1253	protein-coding gene	gene with protein product	"""pancreatic-derived factor"""	608617	"""chromosome 21 open reading frame 11"""	C21orf11			Standard	NM_058186		Approved	D21M16SJHU19e, PRED44, 2-21, ORF9, C21orf76, PANDER	uc002yzb.1	P58499	OTTHUMG00000086752	ENST00000357985.2:c.367G>T	21.37:g.42717633G>T	ENSP00000350673:p.Ala123Ser					FAM3B_ENST00000398647.3_Missense_Mutation_p.A75S|FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000357985.2_Missense_Mutation_p.A123S|FAM3B_ENST00000398646.3_Missense_Mutation_p.A146S	p.A162S			P58499	FAM3B_HUMAN			6	550	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)	123						Missense_Mutation	SNP	ENST00000357985.2	37	c.484G>T	CCDS13671.1	.	.	.	.	.	.	.	.	.	.	G	0.401	-0.918355	0.02396	.	.	ENSG00000183844	ENST00000357985;ENST00000398652;ENST00000398647;ENST00000398646	T;T;T;T	0.58210	0.68;0.65;0.35;0.66	4.62	1.51	0.23008	.	0.946848	0.08802	N	0.891638	T	0.31295	0.0792	L	0.31664	0.95	0.09310	N	1	P;B;B;B	0.35011	0.48;0.138;0.029;0.029	B;B;B;B	0.31442	0.13;0.029;0.02;0.018	T	0.15665	-1.0429	10	0.10111	T	0.7	.	3.186	0.06601	0.0983:0.1716:0.5535:0.1766	.	137;146;75;123	B7Z7I9;A8MTF8;P58499-3;P58499	.;.;.;FAM3B_HUMAN	S	123;162;75;146	ENSP00000350673:A123S;ENSP00000381646:A162S;ENSP00000381642:A75S;ENSP00000381641:A146S	ENSP00000350673:A123S	A	+	1	0	FAM3B	41639503	0.002000	0.14202	0.001000	0.08648	0.281000	0.26958	0.642000	0.24735	0.473000	0.27368	0.603000	0.83216	GCA		0.338	FAM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195142.1	NM_058186		10	38	1	0	0.000442599	1	0.000465513	10	38				
KIAA1522	57648	broad.mit.edu	37	1	33236510	33236510	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:33236510C>G	ENST00000373480.1	+	6	1656	c.1553C>G	c.(1552-1554)aCa>aGa	p.T518R	KIAA1522_ENST00000401073.2_Missense_Mutation_p.T577R|KIAA1522_ENST00000373481.3_Missense_Mutation_p.T529R|KIAA1522_ENST00000294521.3_Intron	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	518	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCAGAACGGACACTTTCGCCC	0.692																																						ENST00000401073.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1729-1731)aCa>aGa		KIAA1522							18.0	22.0	21.0					1																	33236510		1860	4087	5947	SO:0001583	missense	57648							g.chr1:33236510C>G	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.1553C>G	1.37:g.33236510C>G	ENSP00000362579:p.Thr518Arg					KIAA1522_ENST00000373480.1_Missense_Mutation_p.T518R|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Missense_Mutation_p.T529R	p.T577R	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN			6	1800	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	518			Pro-rich.		B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Missense_Mutation	SNP	ENST00000373480.1	37	c.1730C>G	CCDS55588.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.923873	0.52653	.	.	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000373480	T;T;T	0.15952	2.38;2.38;2.42	3.9	3.9	0.45041	.	0.000000	0.64402	D	0.000016	T	0.38665	0.1049	L	0.56769	1.78	0.51482	D	0.999923	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.33803	-0.9854	10	0.72032	D	0.01	-6.0272	16.4582	0.84029	0.0:1.0:0.0:0.0	.	529;518;577	Q9P206-3;Q9P206;Q9P206-2	.;K1522_HUMAN;.	R	577;529;518	ENSP00000383851:T577R;ENSP00000362580:T529R;ENSP00000362579:T518R	ENSP00000362579:T518R	T	+	2	0	KIAA1522	33009097	1.000000	0.71417	0.998000	0.56505	0.807000	0.45602	7.069000	0.76755	2.154000	0.67381	0.462000	0.41574	ACA		0.692	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			7	39	0	0	0	1	0	7	39				
RFPL2	10739	broad.mit.edu	37	22	32588952	32588952	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr22:32588952T>G	ENST00000400237.1	-	4	1428	c.493A>C	c.(493-495)Aag>Cag	p.K165Q	RFPL2_ENST00000248983.4_Missense_Mutation_p.K75Q|RFPL2_ENST00000248980.4_Missense_Mutation_p.K104Q|RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000400236.3_Missense_Mutation_p.K75Q			O75678	RFPL2_HUMAN	ret finger protein-like 2	165							zinc ion binding (GO:0008270)			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						TCCAGTTCCTTGATGTGGGAA	0.537																																						ENST00000400236.3																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						c.(223-225)Aag>Cag		ret finger protein-like 2							93.0	96.0	95.0					22																	32588952		2203	4300	6503	SO:0001583	missense	10739						zinc ion binding	g.chr22:32588952T>G	AJ010231	CCDS43009.1, CCDS46694.1, CCDS43009.2	22q12.3	2008-06-12				ENSG00000128253		"""RING-type (C3HC4) zinc fingers"""	9979	protein-coding gene	gene with protein product		605969				10508838	Standard	NM_001098527		Approved	RNF79	uc003amg.3	O75678		ENST00000400237.1:c.493A>C	22.37:g.32588952T>G	ENSP00000383096:p.Lys165Gln					RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000248983.4_Missense_Mutation_p.K75Q|RFPL2_ENST00000248980.4_Missense_Mutation_p.K104Q|RFPL2_ENST00000400237.1_Missense_Mutation_p.K165Q	p.K75Q	NM_001098527.2	NP_001091997.2	O75678	RFPL2_HUMAN			4	1428	-			165						Missense_Mutation	SNP	ENST00000400237.1	37	c.223A>C	CCDS43009.2	.	.	.	.	.	.	.	.	.	.	T	11.63	1.694819	0.30052	.	.	ENSG00000128253	ENST00000248980;ENST00000248983;ENST00000400236;ENST00000400237	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	0.636	0.636	0.17729	Zinc finger, RING/FYVE/PHD-type (1);RDM domain, Ret finger protein-like (1);	.	.	.	.	T	0.60314	0.2259	M	0.62723	1.935	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.46569	-0.9182	8	0.42905	T	0.14	.	.	.	.	.	165;104	O75678;O75678-3	RFPL2_HUMAN;.	Q	104;75;75;165	ENSP00000248980:K104Q;ENSP00000248983:K75Q;ENSP00000383095:K75Q;ENSP00000383096:K165Q	ENSP00000248980:K104Q	K	-	1	0	RFPL2	30918952	0.030000	0.19436	0.037000	0.18230	0.023000	0.10783	1.015000	0.29963	0.511000	0.28236	0.377000	0.23210	AAG		0.537	RFPL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075262.2	NM_006605		34	130	0	0	0	1	0	34	130				
USH2A	7399	broad.mit.edu	37	1	215914857	215914857	+	Silent	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:215914857C>T	ENST00000307340.3	-	60	11957	c.11571G>A	c.(11569-11571)agG>agA	p.R3857R	USH2A_ENST00000366943.2_Silent_p.R3857R	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3857	Fibronectin type-III 23. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGACAAACATCCTACTGCTAA	0.388										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(11569-11571)agG>agA		Usher syndrome 2A (autosomal recessive, mild)							90.0	92.0	92.0					1																	215914857		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215914857C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.11571G>A	1.37:g.215914857C>T		HNSCC(13;0.011)				USH2A_ENST00000307340.3_Silent_p.R3857R	p.R3857R			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	60	11957	-			3857			Fibronectin type-III 23.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.11571G>A	CCDS31025.1																																																																																				0.388	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		23	144	0	0	0	1	0	23	144				
LMLN	89782	broad.mit.edu	37	3	197687095	197687095	+	Start_Codon_SNP	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:197687095G>T	ENST00000330198.4	+	1	25	c.3G>T	c.(1-3)atG>atT	p.M1I	LMLN_ENST00000482695.1_5'UTR|LMLN_ENST00000332636.5_5'Flank|LMLN_ENST00000420910.2_Start_Codon_SNP_p.M1I|IQCG_ENST00000480302.1_5'Flank|IQCG_ENST00000265239.6_5'Flank	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	1					cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		CGCACTCCATGGTAACGACGC	0.736																																						ENST00000330198.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1-3)atG>atT		leishmanolysin-like (metallopeptidase M8 family)							14.0	18.0	16.0					3																	197687095		2197	4293	6490	SO:0001582	initiator_codon_variant	89782				cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding	g.chr3:197687095G>T	AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.3G>T	3.37:g.197687095G>T	ENSP00000328829:p.Met1Ile					LMLN_ENST00000420910.2_Start_Codon_SNP_p.M1I|LMLN_ENST00000482695.1_5'UTR	p.M1I	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)	1	25	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	1					B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Translation_Start_Site	SNP	ENST00000330198.4	37	c.3G>T	CCDS3332.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.528106	0.85706	.	.	ENSG00000185621	ENST00000330198;ENST00000419117;ENST00000420910	T;T;T	0.40225	1.05;1.06;1.04	4.22	4.22	0.49857	.	0.000000	0.45867	D	0.000321	T	0.50820	0.1638	.	.	.	0.80722	D	1	P;P	0.39044	0.525;0.656	B;P	0.48627	0.38;0.584	T	0.56159	-0.8025	9	0.87932	D	0	-17.801	12.3587	0.55190	0.0:0.0:1.0:0.0	.	1;1	Q96KR4;F8WB28	LMLN_HUMAN;.	I	1	ENSP00000328829:M1I;ENSP00000390872:M1I;ENSP00000410926:M1I	ENSP00000328829:M1I	M	+	3	0	LMLN	199171492	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.904000	0.56325	2.360000	0.80028	0.456000	0.33151	ATG		0.736	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339701.1	NM_033029	Missense_Mutation	12	53	1	0	1.08611e-07	1	1.27042e-07	12	53				
CYFIP2	26999	broad.mit.edu	37	5	156729888	156729888	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:156729888G>T	ENST00000521420.1	+	6	669	c.578G>T	c.(577-579)aGg>aTg	p.R193M	CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000541131.1_Missense_Mutation_p.R144M|CYFIP2_ENST00000347377.6_Missense_Mutation_p.R219M|CYFIP2_ENST00000377576.3_Missense_Mutation_p.R219M|CYFIP2_ENST00000318218.6_Missense_Mutation_p.R219M					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AACCACAACAGGATCACCCAG	0.572																																						ENST00000347377.6																			0				breast(1)|endometrium(12)|kidney(2)|lung(23)	38						c.(655-657)aGg>aTg		cytoplasmic FMR1 interacting protein 2							50.0	52.0	51.0					5																	156729888		2123	4241	6364	SO:0001583	missense	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156729888G>T	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.578G>T	5.37:g.156729888G>T	ENSP00000430904:p.Arg193Met					CYFIP2_ENST00000521420.1_Missense_Mutation_p.R193M|CYFIP2_ENST00000318218.6_Missense_Mutation_p.R219M|CYFIP2_ENST00000377576.3_Missense_Mutation_p.R219M|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000541131.1_Missense_Mutation_p.R144M	p.R219M	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		7	1087	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	219						Missense_Mutation	SNP	ENST00000521420.1	37	c.656G>T		.	.	.	.	.	.	.	.	.	.	G	22.8	4.331028	0.81690	.	.	ENSG00000055163	ENST00000318218;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.26159	0.0638	N	0.08118	0	0.80722	D	1	P;P;P;P;P	0.47604	0.833;0.598;0.539;0.561;0.898	B;B;B;B;B	0.38880	0.232;0.123;0.284;0.276;0.232	T	0.21042	-1.0257	10	0.51188	T	0.08	-23.8984	18.2915	0.90131	0.0:0.0:1.0:0.0	.	193;219;219;219;144	E7EVJ5;E7EVF4;Q96F07-2;Q96F07;B7Z4I3	.;.;.;CYFP2_HUMAN;.	M	219;193;219;219;144	ENSP00000325817:R219M;ENSP00000430904:R193M;ENSP00000313567:R219M;ENSP00000366799:R219M;ENSP00000444645:R144M	ENSP00000325817:R219M	R	+	2	0	CYFIP2	156662466	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.851000	0.62896	2.308000	0.77769	0.563000	0.77884	AGG		0.572	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		3	9	1	0	0.004672	1	0.00480905	3	9				
BPIFA2	140683	broad.mit.edu	37	20	31763255	31763255	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr20:31763255C>G	ENST00000253362.2	+	5	599	c.453C>G	c.(451-453)gaC>gaG	p.D151E	BPIFA2_ENST00000354932.5_Missense_Mutation_p.D151E			Q96DR5	BPIA2_HUMAN	BPI fold containing family A, member 2	151						extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)										CCTCCTTGGACCTCCTGACCG	0.527																																						ENST00000253362.2																			0											c.(451-453)gaC>gaG		BPI fold containing family A, member 2							187.0	169.0	175.0					20																	31763255		2203	4300	6503	SO:0001583	missense	140683					extracellular region	lipid binding	g.chr20:31763255C>G	AF432917	CCDS13214.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131050	ENSG00000131050		"""BPI fold containing"""	16203	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 70"""	C20orf70		11971875	Standard	NM_080574		Approved	bA49G10.1, SPLUNC2, PSP	uc002wyo.1	Q96DR5	OTTHUMG00000032244	ENST00000253362.2:c.453C>G	20.37:g.31763255C>G	ENSP00000253362:p.Asp151Glu					BPIFA2_ENST00000354932.5_Missense_Mutation_p.D151E	p.D151E			Q96DR5	SPLC2_HUMAN			5	599	+			151					Q9BQQ0	Missense_Mutation	SNP	ENST00000253362.2	37	c.453C>G	CCDS13214.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.733922	0.48939	.	.	ENSG00000131050	ENST00000253362;ENST00000354932	T;T	0.05382	3.45;3.45	4.08	-1.56	0.08532	.	0.442237	0.21492	N	0.073666	T	0.07999	0.0200	L	0.39245	1.2	0.09310	N	1	P	0.46020	0.871	P	0.53593	0.73	T	0.18618	-1.0331	10	0.42905	T	0.14	-17.1344	3.5208	0.07741	0.1805:0.3583:0.0:0.4612	.	151	Q96DR5	BPIA2_HUMAN	E	151	ENSP00000253362:D151E;ENSP00000347012:D151E	ENSP00000253362:D151E	D	+	3	2	BPIFA2	31226916	0.412000	0.25392	0.006000	0.13384	0.306000	0.27790	0.221000	0.17680	-0.242000	0.09667	0.555000	0.69702	GAC		0.527	BPIFA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257117.1	NM_080574		48	167	0	0	0	1	0	48	167				
CHD7	55636	broad.mit.edu	37	8	61757439	61757439	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:61757439G>C	ENST00000423902.2	+	22	5346	c.4867G>C	c.(4867-4869)Gac>Cac	p.D1623H	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1623					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			ACGGTGGACAGACATTCTTTC	0.458																																						ENST00000423902.2																			0				NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123						c.(4867-4869)Gac>Cac		chromodomain helicase DNA binding protein 7							72.0	67.0	69.0					8																	61757439		1945	4155	6100	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61757439G>C	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.4867G>C	8.37:g.61757439G>C	ENSP00000392028:p.Asp1623His					CHD7_ENST00000524602.1_Intron	p.D1623H	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		22	5346	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	1623					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.4867G>C	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.982328	0.93044	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	D	0.86956	-2.19	5.63	5.63	0.86233	.	0.058760	0.64402	D	0.000003	D	0.93458	0.7913	M	0.78801	2.425	0.80722	D	1	D	0.69078	0.997	D	0.65987	0.94	D	0.93576	0.6908	10	0.87932	D	0	-26.6363	20.054	0.97641	0.0:0.0:1.0:0.0	.	1623	Q9P2D1	CHD7_HUMAN	H	1623	ENSP00000392028:D1623H	ENSP00000307304:D1623H	D	+	1	0	CHD7	61919993	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.808000	0.96608	0.655000	0.94253	GAC		0.458	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		16	82	0	0	0	1	0	16	82				
CFAP54	144535	broad.mit.edu	37	12	97112264	97112264	+	Silent	SNP	A	A	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:97112264A>G	ENST00000524981.4	+	49	6791	c.6768A>G	c.(6766-6768)acA>acG	p.T2256T				Q96N23	CL055_HUMAN		0																	ATAATCTTACAAAACTTAAAG	0.303																																						ENST00000524981.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						c.(2119-2121)acA>acG									65.0	68.0	67.0					12																	97112264		2201	4298	6499	SO:0001819	synonymous_variant	144535							g.chr12:97112264A>G																												ENST00000524981.4:c.6768A>G	12.37:g.97112264A>G							p.T707T			Q6ZTY8	CL063_HUMAN			16	2121	+			681						Silent	SNP	ENST00000524981.4	37	c.2121A>G																																																																																					0.303	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			30	97	0	0	0	1	0	30	97				
ADAMTS16	170690	broad.mit.edu	37	5	5235208	5235208	+	Silent	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:5235208T>C	ENST00000274181.7	+	13	2070	c.1932T>C	c.(1930-1932)agT>agC	p.S644S	ADAMTS16_ENST00000513709.1_3'UTR	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	644	Cys-rich.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CCCGGGACAGTGTTGACTTCC	0.522																																						ENST00000274181.7																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(1930-1932)agT>agC		ADAM metallopeptidase with thrombospondin type 1 motif, 16							78.0	81.0	80.0					5																	5235208		1952	4143	6095	SO:0001819	synonymous_variant	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5235208T>C	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1932T>C	5.37:g.5235208T>C						ADAMTS16_ENST00000513709.1_3'UTR	p.S644S	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			13	2070	+			644			Cys-rich.		C6G490|Q8IVE2	Silent	SNP	ENST00000274181.7	37	c.1932T>C	CCDS43299.1																																																																																				0.522	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		20	72	0	0	0	1	0	20	72				
BRINP1	1620	broad.mit.edu	37	9	121930286	121930286	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:121930286G>T	ENST00000265922.3	-	8	1823	c.1362C>A	c.(1360-1362)taC>taA	p.Y454*	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	454					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											GATACAGCTTGTAGCCCTTGT	0.612																																						ENST00000265922.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(1360-1362)taC>taA									68.0	64.0	65.0					9																	121930286		2203	4300	6503	SO:0001587	stop_gained	1620				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:121930286G>T	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1362C>A	9.37:g.121930286G>T	ENSP00000265922:p.Tyr454*					DBC1_ENST00000482797.1_Intron	p.Y454*	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN			8	1823	-			454					Q6IPV6|Q6P1A0|Q8WU22	Nonsense_Mutation	SNP	ENST00000265922.3	37	c.1362C>A	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	G	40	8.099144	0.98654	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	.	.	.	5.55	5.55	0.83447	.	0.058764	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.4784	13.2333	0.59955	0.0824:0.0:0.9176:0.0	.	.	.	.	X	454	.	ENSP00000265922:Y454X	Y	-	3	2	DBC1	120970107	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.849000	0.55910	2.600000	0.87896	0.655000	0.94253	TAC		0.612	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		15	32	1	0	1.05317e-09	1	1.29466e-09	15	32				
YTHDC2	64848	broad.mit.edu	37	5	112903465	112903465	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:112903465G>A	ENST00000161863.4	+	23	3376	c.3163G>A	c.(3163-3165)Gtg>Atg	p.V1055M		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1055					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TTGTTCAGCAGTGACGCCTGT	0.408																																						ENST00000161863.4																			0				NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43						c.(3163-3165)Gtg>Atg		YTH domain containing 2							103.0	98.0	100.0					5																	112903465		2202	4300	6502	SO:0001583	missense	64848						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:112903465G>A	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.3163G>A	5.37:g.112903465G>A	ENSP00000161863:p.Val1055Met						p.V1055M	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)	23	3376	+		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)	1055					B2RP66	Missense_Mutation	SNP	ENST00000161863.4	37	c.3163G>A	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.285618	0.80803	.	.	ENSG00000047188	ENST00000161863;ENST00000511372	T	0.04454	3.62	5.33	5.33	0.75918	Domain of unknown function DUF1605 (1);	0.201122	0.40728	N	0.001036	T	0.15262	0.0368	M	0.75615	2.305	0.80722	D	1	P	0.44241	0.829	P	0.48488	0.579	T	0.00220	-1.1906	10	0.66056	D	0.02	.	18.9895	0.92786	0.0:0.0:1.0:0.0	.	1055	Q9H6S0	YTDC2_HUMAN	M	1055;965	ENSP00000161863:V1055M	ENSP00000161863:V1055M	V	+	1	0	YTHDC2	112931364	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.956000	0.76013	2.491000	0.84063	0.655000	0.94253	GTG		0.408	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		26	85	0	0	0	1	0	26	85				
SOGA3	387104	broad.mit.edu	37	6	127797101	127797101	+	Silent	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:127797101C>T	ENST00000525778.1	-	6	2815	c.2070G>A	c.(2068-2070)gcG>gcA	p.A690A	SOGA3_ENST00000465909.2_Silent_p.A690A|SOGA3_ENST00000474293.2_5'Flank|SOGA3_ENST00000368268.2_Silent_p.A690A|SOGA3_ENST00000556132.1_Silent_p.A690A|SOGA3_ENST00000481848.2_Silent_p.A690A			Q5TF21	SOGA3_HUMAN	SOGA family member 3	690					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											CGTGGTGCCGCGCGCTGTCGT	0.647																																						ENST00000556132.1																			0											c.(2068-2070)gcG>gcA		SOGA family member 3							71.0	78.0	75.0					6																	127797101		2189	4293	6482	SO:0001819	synonymous_variant	387104					integral to membrane		g.chr6:127797101C>T	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.2070G>A	6.37:g.127797101C>T						SOGA3_ENST00000368268.2_Silent_p.A690A|SOGA3_ENST00000465909.2_Silent_p.A690A|SOGA3_ENST00000525778.1_Silent_p.A690A|SOGA3_ENST00000481848.2_Silent_p.A690A	p.A690A	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN			6	2934	-			690						Silent	SNP	ENST00000525778.1	37	c.2070G>A	CCDS43505.1																																																																																				0.647	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		51	79	0	0	0	1	0	51	79				
MROH2B	133558	broad.mit.edu	37	5	40999783	40999783	+	Silent	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:40999783G>A	ENST00000399564.4	-	40	5031	c.4581C>T	c.(4579-4581)ctC>ctT	p.L1527L	MROH2B_ENST00000506092.2_Silent_p.L1082L	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1527																	ACTCACCTGTGAGTTTGACAG	0.483																																						ENST00000399564.4																			0											c.(4579-4581)ctC>ctT		maestro heat-like repeat family member 2B							166.0	170.0	169.0					5																	40999783		1948	4151	6099	SO:0001819	synonymous_variant	133558							g.chr5:40999783G>A		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.4581C>T	5.37:g.40999783G>A						MROH2B_ENST00000506092.2_Silent_p.L1082L	p.L1527L	NM_173489.4	NP_775760.3					40	5031	-								Q68DM1|Q7Z4U4|Q8N7X3	Silent	SNP	ENST00000399564.4	37	c.4581C>T	CCDS47202.1																																																																																				0.483	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		14	56	0	0	0	1	0	14	56				
HIVEP3	59269	broad.mit.edu	37	1	41990557	41990557	+	Silent	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:41990557T>C	ENST00000372583.1	-	6	6117	c.5232A>G	c.(5230-5232)gtA>gtG	p.V1744V	HIVEP3_ENST00000372584.1_Silent_p.V1744V|HIVEP3_ENST00000460604.1_Intron|HIVEP3_ENST00000247584.5_Silent_p.V1744V|HIVEP3_ENST00000429157.2_Silent_p.V1744V	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1744					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)				CTCGCACATATACATACTCTT	0.507																																						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.(5230-5232)gtA>gtG		human immunodeficiency virus type I enhancer binding protein 3							111.0	99.0	103.0					1																	41990557		2203	4300	6503	SO:0001819	synonymous_variant	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:41990557T>C	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.5232A>G	1.37:g.41990557T>C						HIVEP3_ENST00000429157.2_Silent_p.V1744V|HIVEP3_ENST00000372583.1_Silent_p.V1744V|HIVEP3_ENST00000460604.1_Intron|HIVEP3_ENST00000247584.5_Silent_p.V1744V	p.V1744V	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			5	6246	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	1744					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Silent	SNP	ENST00000372583.1	37	c.5232A>G	CCDS463.1																																																																																				0.507	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		13	60	0	0	0	1	0	13	60				
TTC29	83894	broad.mit.edu	37	4	147861012	147861012	+	Silent	SNP	C	C	A	rs199903002	byFrequency	TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:147861012C>A	ENST00000325106.4	-	3	262	c.36G>T	c.(34-36)ccG>ccT	p.P12P	TTC29_ENST00000513335.1_Silent_p.P38P|RP11-292D4.2_ENST00000515530.1_RNA|TTC29_ENST00000398886.4_Silent_p.P38P	NM_031956.2	NP_114162.2	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	12										breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CTGTAAGCTTCGGGCGTGTCA	0.428																																						ENST00000513335.1																			0				breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26						c.(112-114)ccG>ccT		tetratricopeptide repeat domain 29							77.0	83.0	81.0					4																	147861012		1873	4098	5971	SO:0001819	synonymous_variant	83894						binding	g.chr4:147861012C>A	AF345910	CCDS47141.1, CCDS75200.1	4q31.23	2013-01-11				ENSG00000137473		"""Tetratricopeptide (TTC) repeat domain containing"""	29936	protein-coding gene	gene with protein product						12477932	Standard	NM_031956		Approved	NYD-SP14	uc003ikw.4	Q8NA56		ENST00000325106.4:c.36G>T	4.37:g.147861012C>A						TTC29_ENST00000398886.4_Silent_p.P38P|TTC29_ENST00000325106.4_Silent_p.P12P|RP11-292D4.2_ENST00000515530.1_RNA	p.P38P			Q8NA56	TTC29_HUMAN			4	313	-	all_hematologic(180;0.151)		12					A4GU95|Q9BXB6	Silent	SNP	ENST00000325106.4	37	c.114G>T	CCDS47141.1																																																																																				0.428	TTC29-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_031956		6	43	1	0	8.12818e-05	1	8.82554e-05	6	43				
TFE3	7030	broad.mit.edu	37	X	48891649	48891649	+	Splice_Site	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chrX:48891649C>A	ENST00000315869.7	-	6	1262	c.1003G>T	c.(1003-1005)Gag>Tag	p.E335*	TFE3_ENST00000487451.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	335					humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.E335K(2)|p.?(2)	NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TATCACCTACCAGAGATCTCC	0.562			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""																																	ENST00000315869.7				Dom	yes		X	Xp11.22	7030	T	transcription factor binding to IGHM enhancer 3			E	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""		"""papillary renal, alveolar soft part sarcoma, renal"""	NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	4	Substitution - Missense(2)|Unknown(2)	p.E335K(2)|p.?(2)	lung(4)	central_nervous_system(1)	1						c.e6+1		transcription factor binding to IGHM enhancer 3							97.0	61.0	73.0					X																	48891649		2203	4300	6503	SO:0001630	splice_region_variant	7030				humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chrX:48891649C>A	X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"""Basic helix-loop-helix proteins"""	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.1003+1G>T	X.37:g.48891649C>A						TFE3_ENST00000493583.1_5'UTR	p.E335_splice	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN			6	1262	-			335					A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Splice_Site	SNP	ENST00000315869.7	37	c.1003_splice	CCDS14315.3	.	.	.	.	.	.	.	.	.	.	c	40	8.270932	0.98735	.	.	ENSG00000068323	ENST00000315869	.	.	.	5.55	5.55	0.83447	.	0.109133	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.5622	17.1944	0.86888	0.0:1.0:0.0:0.0	.	.	.	.	X	335	.	.	E	-	1	0	TFE3	48778593	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	7.416000	0.80143	2.325000	0.78763	0.509000	0.49947	GAG		0.562	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058872.2	NM_006521	Nonsense_Mutation	14	13	1	0	3.27435e-08	1	3.87699e-08	14	13				
DRP2	1821	broad.mit.edu	37	X	100492623	100492623	+	Silent	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chrX:100492623C>A	ENST00000395209.3	+	5	824	c.297C>A	c.(295-297)gcC>gcA	p.A99A	DRP2_ENST00000541709.1_Silent_p.A21A|DRP2_ENST00000402866.1_Silent_p.A99A|DRP2_ENST00000538510.1_Silent_p.A99A	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	99					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GCCTAGAGGCCTTCTCAGACC	0.448																																						ENST00000395209.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						c.(295-297)gcC>gcA		dystrophin related protein 2							104.0	97.0	99.0					X																	100492623		2203	4300	6503	SO:0001819	synonymous_variant	1821				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	g.chrX:100492623C>A	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.297C>A	X.37:g.100492623C>A						DRP2_ENST00000541709.1_Silent_p.A21A|DRP2_ENST00000402866.1_Silent_p.A99A|DRP2_ENST00000538510.1_Silent_p.A99A	p.A99A	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN			5	824	+			99					A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Silent	SNP	ENST00000395209.3	37	c.297C>A	CCDS14480.2																																																																																				0.448	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939		13	104	1	0	5.50884e-06	1	6.17246e-06	13	104				
CSNK1G3	1456	broad.mit.edu	37	5	122930782	122930782	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:122930782A>G	ENST00000361991.2	+	10	1166	c.1136A>G	c.(1135-1137)cAt>cGt	p.H379R	CSNK1G3_ENST00000510842.2_Intron|CSNK1G3_ENST00000345990.4_Intron|CSNK1G3_ENST00000395412.1_Missense_Mutation_p.H379R|CSNK1G3_ENST00000395411.1_Missense_Mutation_p.H379R|CSNK1G3_ENST00000511130.2_Intron|CSNK1G3_ENST00000360683.2_Missense_Mutation_p.H379R|CSNK1G3_ENST00000512718.3_Intron|CSNK1G3_ENST00000521364.1_Intron			Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	379					cellular protein modification process (GO:0006464)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		AATCCCCACCATTTGAGAGCT	0.458																																					Pancreas(187;2868 2964 4353 6297)	ENST00000395412.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15						c.(1135-1137)cAt>cGt		casein kinase 1, gamma 3							87.0	82.0	84.0					5																	122930782		2203	4300	6503	SO:0001583	missense	1456				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr5:122930782A>G	AF049090	CCDS4135.1, CCDS34218.1, CCDS43355.1, CCDS59491.1, CCDS59492.1, CCDS59493.1	5q23	2013-01-17			ENSG00000151292	ENSG00000151292			2456	protein-coding gene	gene with protein product		604253				9925945	Standard	NM_004384		Approved		uc031skv.1	Q9Y6M4	OTTHUMG00000128923	ENST00000361991.2:c.1136A>G	5.37:g.122930782A>G	ENSP00000354942:p.His379Arg					CSNK1G3_ENST00000345990.4_Intron|CSNK1G3_ENST00000521364.1_Intron|CSNK1G3_ENST00000512718.3_Intron|CSNK1G3_ENST00000360683.2_Missense_Mutation_p.H379R|CSNK1G3_ENST00000361991.2_Missense_Mutation_p.H379R|CSNK1G3_ENST00000395411.1_Missense_Mutation_p.H379R|CSNK1G3_ENST00000511130.2_Intron|CSNK1G3_ENST00000510842.2_Intron	p.H379R	NM_001044723.1	NP_001038188.1	Q9Y6M4	KC1G3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)	11	1855	+		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	379					A8K040|B4DSH2|B7Z9Q4|E7EVD0|Q86WZ7|Q9Y6M3	Missense_Mutation	SNP	ENST00000361991.2	37	c.1136A>G	CCDS4135.1	.	.	.	.	.	.	.	.	.	.	A	13.55	2.270629	0.40194	.	.	ENSG00000151292	ENST00000395412;ENST00000395411;ENST00000361991;ENST00000360683	T;T;T;T	0.48201	0.83;0.82;0.82;0.83	5.11	5.11	0.69529	Casein kinase 1 gamma C-terminal (1);	0.000000	0.64402	D	0.000014	T	0.38825	0.1055	L	0.36672	1.1	0.80722	D	1	B;B	0.15473	0.0;0.013	B;B	0.20577	0.002;0.03	T	0.17531	-1.0366	10	0.18276	T	0.48	.	15.2792	0.73767	1.0:0.0:0.0:0.0	.	379;379	Q9Y6M4;Q9Y6M4-2	KC1G3_HUMAN;.	R	379	ENSP00000378807:H379R;ENSP00000378806:H379R;ENSP00000354942:H379R;ENSP00000353904:H379R	ENSP00000353904:H379R	H	+	2	0	CSNK1G3	122958681	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.237000	0.89807	2.219000	0.72066	0.533000	0.62120	CAT		0.458	CSNK1G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250900.1	NM_004384		15	44	0	0	0	1	0	15	44				
CDC14B	8555	broad.mit.edu	37	9	99285991	99285991	+	Silent	SNP	C	C	A	rs367899199		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:99285991C>A	ENST00000375241.1	-	10	1414	c.963G>T	c.(961-963)acG>acT	p.T321T	CDC14B_ENST00000375242.3_Silent_p.T284T|CDC14B_ENST00000375236.1_Silent_p.T321T|CDC14B_ENST00000481149.1_5'Flank|CDC14B_ENST00000375240.3_Silent_p.T321T|CDC14B_ENST00000265659.2_Silent_p.T321T|CDC14B_ENST00000463569.1_Silent_p.T321T	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	321	B.				activation of anaphase-promoting complex activity (GO:0051488)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				TCAGAGTGCCCGTGCGACCAA	0.498																																						ENST00000375241.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15						c.(961-963)acG>acT		cell division cycle 14B							53.0	47.0	49.0					9																	99285991		2203	4300	6503	SO:0001819	synonymous_variant	8555				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:99285991C>A	AF023158	CCDS6721.1, CCDS6722.1, CCDS43853.1	9q22.3	2013-01-17	2013-01-17		ENSG00000081377	ENSG00000081377		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1719	protein-coding gene	gene with protein product		603505	"""CDC14 (cell division cycle 14, S. cerevisiae) homolog B"", ""CDC14 cell division cycle 14 homolog B (S. cerevisiae)"""			9367992	Standard	NM_003671		Approved	Cdc14B1, Cdc14B2, CDC14B3, hCDC14B	uc004awj.3	O60729	OTTHUMG00000020300	ENST00000375241.1:c.963G>T	9.37:g.99285991C>A						CDC14B_ENST00000463569.1_Silent_p.T321T|CDC14B_ENST00000375236.1_Silent_p.T321T|CDC14B_ENST00000375240.3_Silent_p.T321T|CDC14B_ENST00000375242.3_Silent_p.T284T|CDC14B_ENST00000265659.2_Silent_p.T321T	p.T321T	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN			10	1414	-		Acute lymphoblastic leukemia(62;0.0559)	321			B.		A6N5X8|A8MQ20|B1AL31|B1AL32|O43183|O60730|Q5JU08	Silent	SNP	ENST00000375241.1	37	c.963G>T	CCDS6722.1																																																																																				0.498	CDC14B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053278.2	NM_033331		20	55	1	0	1.01871e-10	1	1.28295e-10	20	55				
TRPA1	8989	broad.mit.edu	37	8	72973952	72973952	+	Silent	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:72973952G>T	ENST00000262209.4	-	7	1059	c.852C>A	c.(850-852)gcC>gcA	p.A284A		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	284					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CAATCTCAGTGGCTCCCTGGG	0.408																																						ENST00000262209.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(850-852)gcC>gcA		transient receptor potential cation channel, subfamily A, member 1	Menthol(DB00825)						180.0	145.0	157.0					8																	72973952		2203	4300	6503	SO:0001819	synonymous_variant	8989					integral to plasma membrane		g.chr8:72973952G>T	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.852C>A	8.37:g.72973952G>T							p.A284A	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		7	1059	-			284					A6NIN6	Silent	SNP	ENST00000262209.4	37	c.852C>A	CCDS34908.1																																																																																				0.408	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		32	68	1	0	3.1745e-13	1	4.16788e-13	32	68				
PLA2G2D	26279	broad.mit.edu	37	1	20440615	20440615	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:20440615C>G	ENST00000375105.3	-	4	488	c.430G>C	c.(430-432)Ggg>Cgg	p.G144R		NM_012400.2	NP_036532.1	Q9UNK4	PA2GD_HUMAN	phospholipase A2, group IID	144					glycerophospholipid biosynthetic process (GO:0046474)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			endometrium(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTAGCACCCAGGGGTCTGC	0.597										Multiple Myeloma(11;0.12)																											Melanoma(60;742 1548 31762 39240)	ENST00000375105.3																			0				endometrium(1)|lung(2)	3						c.(430-432)Ggg>Cgg		phospholipase A2, group IID							29.0	31.0	30.0					1																	20440615		2203	4300	6503	SO:0001583	missense	26279				inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity	g.chr1:20440615C>G	AF112982	CCDS203.1, CCDS72721.1	1p36.12	2008-09-19			ENSG00000117215	ENSG00000117215	3.1.1.4		9033	protein-coding gene	gene with protein product		605630				10455175	Standard	NM_012400		Approved	sPLA2S	uc001bcz.4	Q9UNK4	OTTHUMG00000002701	ENST00000375105.3:c.430G>C	1.37:g.20440615C>G	ENSP00000364246:p.Gly144Arg	Multiple Myeloma(11;0.12)					p.G144R	NM_012400.2	NP_036532.1	Q9UNK4	PA2GD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	4	488	-		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	144					A8K2Z1|B1AEL9|Q9UK01	Missense_Mutation	SNP	ENST00000375105.3	37	c.430G>C	CCDS203.1	.	.	.	.	.	.	.	.	.	.	C	4.754	0.140171	0.09083	.	.	ENSG00000117215	ENST00000375105	T	0.10960	2.82	4.58	-8.96	0.00761	Phospholipase A2 (2);	2.687950	0.01540	N	0.019180	T	0.03178	0.0093	N	0.01874	-0.695	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.35822	-0.9773	10	0.16420	T	0.52	2.8503	6.4726	0.22018	0.0:0.3709:0.3275:0.3016	.	144	Q9UNK4	PA2GD_HUMAN	R	144	ENSP00000364246:G144R	ENSP00000364246:G144R	G	-	1	0	PLA2G2D	20313202	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-3.790000	0.00365	-1.543000	0.01723	-0.379000	0.06801	GGG		0.597	PLA2G2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007683.1			10	36	0	0	0	1	0	10	36				
C8B	732	broad.mit.edu	37	1	57422559	57422559	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:57422559G>A	ENST00000371237.4	-	3	340	c.274C>T	c.(274-276)Ccc>Tcc	p.P92S	C8B_ENST00000535057.1_Missense_Mutation_p.P30S|C8B_ENST00000543257.1_Missense_Mutation_p.P40S	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	92	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)		p.P92S(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						AACTGAGAGGGCTGGAGCAAG	0.507																																						ENST00000543257.1																			1	Substitution - Missense(1)	p.P92S(1)	lung(1)	breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						c.(118-120)Ccc>Tcc		complement component 8, beta polypeptide							131.0	121.0	125.0					1																	57422559		2203	4300	6503	SO:0001583	missense	732				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		g.chr1:57422559G>A	M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"""Complement system"""	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.274C>T	1.37:g.57422559G>A	ENSP00000360281:p.Pro92Ser					C8B_ENST00000371237.4_Missense_Mutation_p.P92S|C8B_ENST00000535057.1_Missense_Mutation_p.P30S	p.P40S	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN			4	684	-			92					A1L4K7	Missense_Mutation	SNP	ENST00000371237.4	37	c.118C>T	CCDS30730.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.403460	0.62288	.	.	ENSG00000021852	ENST00000371237;ENST00000543257;ENST00000535057	T;T;T	0.29917	2.11;2.11;1.55	5.32	5.32	0.75619	.	0.053384	0.85682	D	0.000000	T	0.54159	0.1841	M	0.87682	2.9	0.51233	D	0.999918	D;D;P	0.64830	0.994;0.994;0.91	P;P;P	0.60949	0.844;0.881;0.469	T	0.54309	-0.8313	10	0.16420	T	0.52	-18.6771	14.5719	0.68218	0.0:0.1461:0.8539:0.0	.	40;30;92	F5H7G1;F5GY80;P07358	.;.;CO8B_HUMAN	S	92;40;30	ENSP00000360281:P92S;ENSP00000442548:P40S;ENSP00000440113:P30S	ENSP00000360281:P92S	P	-	1	0	C8B	57195147	1.000000	0.71417	0.965000	0.40720	0.247000	0.25773	5.211000	0.65219	2.665000	0.90641	0.585000	0.79938	CCC		0.507	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2			55	176	0	0	0	1	0	55	176				
PCDH15	65217	broad.mit.edu	37	10	55583103	55583103	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:55583103G>C	ENST00000320301.6	-	33	4777	c.4383C>G	c.(4381-4383)taC>taG	p.Y1461*	PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395432.2_Nonsense_Mutation_p.Y1421*|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000437009.1_Nonsense_Mutation_p.Y1392*|PCDH15_ENST00000361849.3_Nonsense_Mutation_p.Y1463*|PCDH15_ENST00000395433.1_Nonsense_Mutation_p.Y1438*|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Nonsense_Mutation_p.Y1458*|PCDH15_ENST00000395440.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1461					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTTGAAAATGGTAGAGAAGGA	0.363										HNSCC(58;0.16)																												ENST00000361849.3																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(4387-4389)taC>taG		protocadherin-related 15							96.0	99.0	98.0					10																	55583103		2203	4300	6503	SO:0001587	stop_gained	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55583103G>C	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4383C>G	10.37:g.55583103G>C	ENSP00000322604:p.Tyr1461*	HNSCC(58;0.16)				PCDH15_ENST00000320301.6_Nonsense_Mutation_p.Y1461*|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395433.1_Nonsense_Mutation_p.Y1438*|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395430.1_Nonsense_Mutation_p.Y1458*|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Nonsense_Mutation_p.Y1421*|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000437009.1_Nonsense_Mutation_p.Y1392*	p.Y1463*	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN			34	4783	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1461					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Nonsense_Mutation	SNP	ENST00000320301.6	37	c.4389C>G	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	46	12.196064	0.99645	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.367	0.60689	0.0722:0.0:0.9278:0.0	.	.	.	.	X	1421;1463;1438;1461;1458;1468;1392	.	ENSP00000322604:Y1461X	Y	-	3	2	PCDH15	55253109	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.879000	0.56138	2.850000	0.98022	0.650000	0.86243	TAC		0.363	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		22	71	0	0	0	1	0	22	71				
EP400	57634	broad.mit.edu	37	12	132527956	132527956	+	Silent	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:132527956G>C	ENST00000333577.4	+	34	6532	c.6423G>C	c.(6421-6423)ccG>ccC	p.P2141P	EP400_ENST00000330386.6_Silent_p.P2024P|EP400_ENST00000332482.4_Silent_p.P2068P|EP400_ENST00000389562.2_Silent_p.P2104P|EP400_ENST00000389561.2_Silent_p.P2105P			Q96L91	EP400_HUMAN	E1A binding protein p400	2141					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AGAACATGCCGTGTGATGAAG	0.473																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(6421-6423)ccG>ccC		E1A binding protein p400							110.0	99.0	103.0					12																	132527956		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132527956G>C	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.6423G>C	12.37:g.132527956G>C						EP400_ENST00000389561.2_Silent_p.P2105P|EP400_ENST00000389562.2_Silent_p.P2104P|EP400_ENST00000330386.6_Silent_p.P2024P|EP400_ENST00000332482.4_Silent_p.P2068P	p.P2141P			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	34	6532	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2141					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.6423G>C																																																																																					0.473	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		10	72	0	0	0	1	0	10	72				
GPR179	440435	broad.mit.edu	37	17	36489268	36489268	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:36489268C>T	ENST00000342292.4	-	10	1923	c.1903G>A	c.(1903-1905)Ggg>Agg	p.G635R		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	635					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GGAGGAGCCCCCAGCTTCCAG	0.617																																						ENST00000342292.4																			0				breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(1903-1905)Ggg>Agg		G protein-coupled receptor 179							34.0	41.0	38.0					17																	36489268		2067	4211	6278	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36489268C>T		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.1903G>A	17.37:g.36489268C>T	ENSP00000345060:p.Gly635Arg						p.G635R	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN			10	1923	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	635						Missense_Mutation	SNP	ENST00000342292.4	37	c.1903G>A	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.731940	0.89390	.	.	ENSG00000188888	ENST00000342292	T	0.52983	0.64	5.22	5.22	0.72569	GPCR, family 3, C-terminal (1);	0.385164	0.25001	N	0.033902	T	0.67674	0.2918	M	0.68952	2.095	0.50171	D	0.99985	D	0.89917	1.0	D	0.91635	0.999	T	0.65923	-0.6050	10	0.44086	T	0.13	-30.3201	17.7169	0.88340	0.0:1.0:0.0:0.0	.	635	Q6PRD1	GP179_HUMAN	R	635	ENSP00000345060:G635R	ENSP00000345060:G635R	G	-	1	0	GPR179	33742794	0.140000	0.22579	0.977000	0.42913	0.944000	0.59088	1.460000	0.35244	2.720000	0.93068	0.655000	0.94253	GGG		0.617	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			9	43	0	0	0	1	0	9	43				
CCDC85A	114800	broad.mit.edu	37	2	56420107	56420107	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:56420107C>A	ENST00000407595.2	+	2	1274	c.772C>A	c.(772-774)Cat>Aat	p.H258N	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	258	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CAGCCCCGAGCATCCACAGAA	0.662																																						ENST00000407595.2																			0				breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38						c.(772-774)Cat>Aat		coiled-coil domain containing 85A							31.0	46.0	41.0					2																	56420107		2003	4193	6196	SO:0001583	missense	114800							g.chr2:56420107C>A	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.772C>A	2.37:g.56420107C>A	ENSP00000384040:p.His258Asn					RP11-482H16.1_ENST00000607540.1_RNA	p.H258N	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		2	1274	+			258			His-rich.			Missense_Mutation	SNP	ENST00000407595.2	37	c.772C>A	CCDS46290.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.384788	0.61956	.	.	ENSG00000055813	ENST00000407595	T	0.47869	0.83	5.08	5.08	0.68730	.	0.053014	0.85682	D	0.000000	T	0.50888	0.1642	L	0.50333	1.59	0.80722	D	1	D	0.54207	0.965	P	0.47044	0.535	T	0.49854	-0.8895	10	0.36615	T	0.2	5.9202	18.4789	0.90804	0.0:1.0:0.0:0.0	.	258	Q96PX6	CC85A_HUMAN	N	258	ENSP00000384040:H258N	ENSP00000384040:H258N	H	+	1	0	CCDC85A	56273611	1.000000	0.71417	0.955000	0.39395	0.686000	0.39977	3.425000	0.52771	2.356000	0.79943	0.591000	0.81541	CAT		0.662	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			7	52	1	0	0.0381472	1	0.0385972	7	52				
SRGAP2	23380	broad.mit.edu	37	1	206566173	206566173	+	Missense_Mutation	SNP	G	G	A	rs376951626		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:206566173G>A	ENST00000414007.1	+	2	194	c.194G>A	c.(193-195)cGc>cAc	p.R65H	SRGAP2_ENST00000419187.2_5'UTR			O75044	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	205	F-BAR domain.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				actin filament severing (GO:0051014)|axon guidance (GO:0007411)|dendritic spine development (GO:0060996)|extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration (GO:0021816)|filopodium assembly (GO:0046847)|lamellipodium assembly involved in ameboidal cell migration (GO:0003363)|negative regulation of neuron migration (GO:2001223)|neuron projection morphogenesis (GO:0048812)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine head (GO:0044327)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein homodimerization activity (GO:0042803)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					CAGACCCCACGCTCCCCTGAC	0.537																																						ENST00000414007.1																			0				NS(1)|breast(1)|kidney(1)|lung(1)	4						c.(193-195)cGc>cAc		SLIT-ROBO Rho GTPase activating protein 2		G	HIS/ARG,HIS/ARG,HIS/ARG	0,4368		0,0,2184	124.0	118.0	120.0		357,357,357	5.4	1.0	1		120	7,8569	2.2+/-6.3	0,7,4281	no	missense,missense,missense	SRGAP2	NM_001042758.1,NM_001170637.1,NM_015326.2	29,29,29	0,7,6465	AA,AG,GG		0.0816,0.0,0.0541	probably-damaging,probably-damaging,probably-damaging	205/837,205/1071,205/1072	206566173	7,12937	2184	4288	6472	SO:0001583	missense	23380				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr1:206566173G>A	AB007925	CCDS73017.1	1q32.1	2014-08-13	2004-11-12	2004-11-12	ENSG00000163486	ENSG00000266028		"""Rho GTPase activating proteins"""	19751	protein-coding gene	gene with protein product		606524	"""formin binding protein 2"""	FNBP2		15046868, 11672528	Standard	XM_005277510		Approved	KIAA0456, ARHGAP34, SRGAP2A	uc001hdy.3	O75044	OTTHUMG00000184381	ENST00000414007.1:c.194G>A	1.37:g.206566173G>A	ENSP00000390898:p.Arg65His					SRGAP2_ENST00000419187.2_5'UTR	p.R65H			O75044	FNBP2_HUMAN			2	194	+	Breast(84;0.137)		205			FCH.			Missense_Mutation	SNP	ENST00000414007.1	37	c.194G>A		.	.	.	.	.	.	.	.	.	.	G	34	5.326225	0.95708	0.0	8.16E-4	ENSG00000163486	ENST00000414359;ENST00000414007	T	0.57752	0.38	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.73110	0.3545	.	.	.	0.80722	D	1.000000	D;D;D	0.89917	0.998;0.998;1.0	P;P;D	0.87578	0.818;0.835;0.998	T	0.71286	-0.4638	8	0.34782	T	0.22	.	19.085	0.93200	0.0:0.0:1.0:0.0	.	52;205;205	B4DDU0;O75044;B7Z3G4	.;FNBP2_HUMAN;.	H	119;65	ENSP00000390898:R65H	ENSP00000390898:R65H	R	+	2	0	SRGAP2	204632796	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.175000	0.94831	2.483000	0.83821	0.455000	0.32223	CGC		0.537	SRGAP2-201	KNOWN	basic	protein_coding	protein_coding		NM_015326		7	47	0	0	0	1	0	7	47				
ZFYVE26	23503	broad.mit.edu	37	14	68271955	68271955	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr14:68271955T>G	ENST00000347230.4	-	8	1388	c.1250A>C	c.(1249-1251)gAg>gCg	p.E417A	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.E417A	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	417					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TATGCACCACTCCAGGACCTC	0.587																																						ENST00000347230.4																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94						c.(1249-1251)gAg>gCg		zinc finger, FYVE domain containing 26							59.0	47.0	51.0					14																	68271955		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68271955T>G	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.1250A>C	14.37:g.68271955T>G	ENSP00000251119:p.Glu417Ala					ZFYVE26_ENST00000555452.1_Missense_Mutation_p.E417A	p.E417A	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	8	1388	-			417					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.1250A>C	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	T	19.85	3.904141	0.72754	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.34472	1.51;1.36	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.55353	0.1915	M	0.64997	1.995	0.53688	D	0.999977	D;P;P	0.55800	0.973;0.911;0.856	P;P;B	0.60415	0.874;0.71;0.394	T	0.57608	-0.7782	10	0.72032	D	0.01	-14.3028	16.3196	0.82941	0.0:0.0:0.0:1.0	.	417;417;417	Q68DK2-4;G3V2D8;Q68DK2	.;.;ZFY26_HUMAN	A	417;396;417	ENSP00000251119:E417A;ENSP00000450603:E417A	ENSP00000251119:E417A	E	-	2	0	ZFYVE26	67341708	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.209000	0.65208	2.248000	0.74166	0.459000	0.35465	GAG		0.587	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		11	35	0	0	0	1	0	11	35				
CREB3L2	64764	broad.mit.edu	37	7	137613070	137613070	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:137613070C>A	ENST00000330387.6	-	2	496	c.145G>T	c.(145-147)Ggt>Tgt	p.G49C	CREB3L2_ENST00000458726.1_5'UTR|CREB3L2_ENST00000456390.1_Missense_Mutation_p.G49C|CREB3L2_ENST00000452463.1_Missense_Mutation_p.G49C	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	49					cartilage development (GO:0051216)|chondrocyte differentiation (GO:0002062)|ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of transcription, DNA-templated (GO:0045893)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cAMP response element binding (GO:0035497)|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)|transcription regulatory region DNA binding (GO:0044212)		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						AGGAGCTGACCCAAGACGTTC	0.498			T	FUS	fibromyxoid sarcoma																																	ENST00000330387.6				Dom	yes		7	7q34	64764	T	cAMP responsive element binding protein 3-like 2			M	FUS		fibromyxoid sarcoma	FUS/CREB3L2(158)	0				breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(145-147)Ggt>Tgt		cAMP responsive element binding protein 3-like 2							51.0	46.0	48.0					7																	137613070		2203	4300	6503	SO:0001583	missense	64764				chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:137613070C>A	AJ549092	CCDS34760.1, CCDS59083.1	7q34	2013-01-10			ENSG00000182158	ENSG00000182158		"""basic leucine zipper proteins"""	23720	protein-coding gene	gene with protein product		608834					Standard	NM_194071		Approved	BBF2H7, TCAG_1951439	uc003vtw.3	Q70SY1	OTTHUMG00000155744	ENST00000330387.6:c.145G>T	7.37:g.137613070C>A	ENSP00000329140:p.Gly49Cys					CREB3L2_ENST00000456390.1_Missense_Mutation_p.G49C|CREB3L2_ENST00000458726.1_5'UTR|CREB3L2_ENST00000452463.1_Missense_Mutation_p.G49C	p.G49C	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN			2	496	-			49					Q6P454|Q6ZMR6	Missense_Mutation	SNP	ENST00000330387.6	37	c.145G>T	CCDS34760.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.603283	0.87157	.	.	ENSG00000182158	ENST00000330387;ENST00000544877;ENST00000417785;ENST00000456390;ENST00000452463	T;T;T	0.68331	0.06;-0.32;0.57	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.81384	0.4811	L	0.61218	1.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.82084	-0.0632	10	0.87932	D	0	-6.9762	19.8904	0.96928	0.0:1.0:0.0:0.0	.	49;49;49	Q70SY1-3;Q70SY1-2;Q70SY1	.;.;CR3L2_HUMAN	C	49	ENSP00000329140:G49C;ENSP00000403550:G49C;ENSP00000410314:G49C	ENSP00000329140:G49C	G	-	1	0	CREB3L2	137263610	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.619000	0.67729	2.697000	0.92050	0.650000	0.86243	GGT		0.498	CREB3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341462.1	NM_194071		7	26	1	0	0.000157383	1	0.00016875	7	26				
CNGA3	1261	broad.mit.edu	37	2	99012724	99012724	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:99012724C>A	ENST00000272602.2	+	7	1130	c.1091C>A	c.(1090-1092)aCc>aAc	p.T364N	CNGA3_ENST00000409937.1_Missense_Mutation_p.T368N|CNGA3_ENST00000436404.2_Missense_Mutation_p.T346N|CNGA3_ENST00000393504.1_Missense_Mutation_p.T364N			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	364					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TTGACCCTTACCACCATTGGT	0.527																																						ENST00000393504.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						c.(1090-1092)aCc>aAc		cyclic nucleotide gated channel alpha 3							80.0	79.0	80.0					2																	99012724		2203	4300	6503	SO:0001583	missense	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:99012724C>A	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.1091C>A	2.37:g.99012724C>A	ENSP00000272602:p.Thr364Asn					CNGA3_ENST00000409937.1_Missense_Mutation_p.T368N|CNGA3_ENST00000436404.2_Missense_Mutation_p.T346N|CNGA3_ENST00000272602.2_Missense_Mutation_p.T364N	p.T364N	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN			8	1508	+			364					E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	ENST00000272602.2	37	c.1091C>A	CCDS2034.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.583338	0.65992	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	D;D;D;D	0.98914	-5.23;-5.23;-5.23;-5.23	5.15	5.15	0.70609	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99492	0.9819	H	0.97465	4.01	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.99	D	0.98143	1.0437	10	0.87932	D	0	.	17.5731	0.87940	0.0:1.0:0.0:0.0	.	368;346;364	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	N	364;346;364;368	ENSP00000377140:T364N;ENSP00000410070:T346N;ENSP00000272602:T364N;ENSP00000386761:T368N	ENSP00000272602:T364N	T	+	2	0	CNGA3	98379156	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.320000	0.79064	2.677000	0.91161	0.563000	0.77884	ACC		0.527	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		20	70	1	0	1.15919e-05	1	1.29133e-05	20	70				
NLRP11	204801	broad.mit.edu	37	19	56313039	56313039	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:56313039G>T	ENST00000589093.1	-	5	2163	c.2070C>A	c.(2068-2070)agC>agA	p.S690R	NLRP11_ENST00000360133.3_Missense_Mutation_p.S636R|NLRP11_ENST00000443188.1_Missense_Mutation_p.S690R|NLRP11_ENST00000589824.2_Missense_Mutation_p.S636R|NLRP11_ENST00000592953.1_Missense_Mutation_p.S591R			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	690							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GGTATGTCAGGCTCCGATTAC	0.448																																						ENST00000443188.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66						c.(2068-2070)agC>agA		NLR family, pyrin domain containing 11							137.0	123.0	128.0					19																	56313039		2203	4300	6503	SO:0001583	missense	204801						ATP binding	g.chr19:56313039G>T	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.2070C>A	19.37:g.56313039G>T	ENSP00000466285:p.Ser690Arg					NLRP11_ENST00000360133.3_Missense_Mutation_p.S636R|NLRP11_ENST00000589093.1_Missense_Mutation_p.S690R|NLRP11_ENST00000592953.1_Missense_Mutation_p.S591R|NLRP11_ENST00000589824.2_Missense_Mutation_p.S636R	p.S690R	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	7	2780	-		Colorectal(82;0.0002)	690					C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	c.2070C>A	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	G	0.116	-1.131406	0.01756	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.55234	0.53;0.53	1.96	-0.411	0.12370	.	.	.	.	.	T	0.37293	0.0998	L	0.40543	1.245	0.09310	N	1	B;B	0.30634	0.288;0.232	B;B	0.30179	0.052;0.112	T	0.25222	-1.0138	9	0.42905	T	0.14	.	4.0163	0.09646	0.5306:0.0:0.4694:0.0	.	690;636	P59045;P59045-2	NAL11_HUMAN;.	R	690;636	ENSP00000409898:S690R;ENSP00000353251:S636R	ENSP00000353251:S636R	S	-	3	2	NLRP11	61004851	0.002000	0.14202	0.005000	0.12908	0.002000	0.02628	-0.379000	0.07437	-0.071000	0.12886	-0.136000	0.14681	AGC		0.448	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		23	62	1	0	5.26018e-13	1	6.87116e-13	23	62				
HDAC9	9734	broad.mit.edu	37	7	18705910	18705910	+	Silent	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:18705910G>T	ENST00000432645.2	+	11	1533	c.1533G>T	c.(1531-1533)ggG>ggT	p.G511G	HDAC9_ENST00000456174.2_Silent_p.G483G|HDAC9_ENST00000405010.3_Silent_p.G511G|HDAC9_ENST00000401921.1_Silent_p.G470G|HDAC9_ENST00000406451.4_Silent_p.G511G|HDAC9_ENST00000428307.2_Silent_p.G467G|HDAC9_ENST00000441542.2_Silent_p.G514G|HDAC9_ENST00000524023.1_Silent_p.G434G|HDAC9_ENST00000417496.2_Silent_p.G509G|HDAC9_ENST00000406072.1_Silent_p.G498G	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	511					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|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 deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AGCTTCAGGGGGACCAGGCGA	0.537											OREG0017877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000406451.3																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82						c.(1531-1533)ggG>ggT		histone deacetylase 9	Valproic Acid(DB00313)						119.0	128.0	125.0					7																	18705910		2021	4170	6191	SO:0001819	synonymous_variant	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|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 binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18705910G>T	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.1533G>T	7.37:g.18705910G>T			OREG0017877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	727	HDAC9_ENST00000405010.3_Silent_p.G511G|HDAC9_ENST00000432645.2_Silent_p.G511G|HDAC9_ENST00000441542.2_Silent_p.G514G|HDAC9_ENST00000428307.2_Silent_p.G467G|HDAC9_ENST00000524023.1_Silent_p.G434G|HDAC9_ENST00000417496.2_Silent_p.G509G|HDAC9_ENST00000456174.2_Silent_p.G483G|HDAC9_ENST00000401921.1_Silent_p.G470G|HDAC9_ENST00000406072.1_Silent_p.G498G	p.G511G	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN			12	1683	+	all_lung(11;0.187)		511					A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Silent	SNP	ENST00000432645.2	37	c.1533G>T	CCDS47555.1																																																																																				0.537	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			34	119	1	0	1.36615e-20	1	1.98619e-20	34	119				
VEZT	55591	broad.mit.edu	37	12	95656712	95656712	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:95656712A>G	ENST00000436874.1	+	4	394	c.289A>G	c.(289-291)Acc>Gcc	p.T97A	VEZT_ENST00000261219.6_Missense_Mutation_p.T49A|VEZT_ENST00000356859.4_3'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	97					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						CTCATTACATACCATCCTGCA	0.408																																						ENST00000436874.1																			0				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						c.(289-291)Acc>Gcc		vezatin, adherens junctions transmembrane protein							123.0	118.0	119.0					12																	95656712		1892	4134	6026	SO:0001583	missense	55591					acrosomal vesicle|adherens junction|integral to membrane|nucleus		g.chr12:95656712A>G	AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.289A>G	12.37:g.95656712A>G	ENSP00000410083:p.Thr97Ala					VEZT_ENST00000261219.6_Missense_Mutation_p.T49A|VEZT_ENST00000356859.4_3'UTR	p.T97A	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN			4	394	+			97					Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Missense_Mutation	SNP	ENST00000436874.1	37	c.289A>G	CCDS44954.1	.	.	.	.	.	.	.	.	.	.	A	14.81	2.647520	0.47258	.	.	ENSG00000028203	ENST00000436874;ENST00000549002;ENST00000261219;ENST00000551472;ENST00000552821;ENST00000551311;ENST00000546445;ENST00000397792;ENST00000397796	T;T;T;T;T;T	0.49720	2.36;0.82;2.42;0.8;0.77;2.42	5.74	3.36	0.38483	.	0.155162	0.64402	N	0.000014	T	0.33440	0.0863	L	0.41824	1.3	0.39959	D	0.974635	B;B;B;B	0.19935	0.04;0.007;0.006;0.004	B;B;B;B	0.16722	0.016;0.012;0.009;0.004	T	0.11567	-1.0582	10	0.07644	T	0.81	-21.9141	10.5362	0.45004	0.8797:0.0:0.1203:0.0	.	97;97;49;49	C9J154;Q9HBM0;F8W8C2;F2Z3A6	.;VEZA_HUMAN;.;.	A	97;67;49;116;88;49;19;49;97	ENSP00000410083:T97A;ENSP00000449591:T67A;ENSP00000261219:T49A;ENSP00000449701:T116A;ENSP00000447151:T19A;ENSP00000380894:T49A	ENSP00000261219:T49A	T	+	1	0	VEZT	94180843	1.000000	0.71417	0.994000	0.49952	0.978000	0.69477	5.305000	0.65750	0.431000	0.26258	0.482000	0.46254	ACC		0.408	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407804.2	NM_017599		35	134	0	0	0	1	0	35	134				
PTGER4	5734	broad.mit.edu	37	5	40681879	40681879	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:40681879C>A	ENST00000302472.3	+	2	1808	c.784C>A	c.(784-786)Cgc>Agc	p.R262S		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	262					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	GAGCTTCCGCCGCATCGCGGG	0.716																																						ENST00000302472.3																			0				breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(784-786)Cgc>Agc		prostaglandin E receptor 4 (subtype EP4)							17.0	20.0	19.0					5																	40681879		2090	4024	6114	SO:0001583	missense	5734				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity	g.chr5:40681879C>A	L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"""GPCR / Class A : Prostanoid receptors"""	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.784C>A	5.37:g.40681879C>A	ENSP00000302846:p.Arg262Ser						p.R262S	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN			2	1808	+			262					Q3MJ87	Missense_Mutation	SNP	ENST00000302472.3	37	c.784C>A	CCDS3930.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.603704	0.66445	.	.	ENSG00000171522	ENST00000302472	T	0.35789	1.29	5.15	2.2	0.27929	GPCR, rhodopsin-like superfamily (1);	0.097761	0.64402	D	0.000001	T	0.47801	0.1465	M	0.83483	2.645	0.53688	D	0.999973	D	0.53151	0.958	P	0.54924	0.764	T	0.53222	-0.8469	10	0.10636	T	0.68	-17.5182	9.5944	0.39565	0.2657:0.4769:0.2574:0.0	.	262	P35408	PE2R4_HUMAN	S	262	ENSP00000302846:R262S	ENSP00000302846:R262S	R	+	1	0	PTGER4	40717636	1.000000	0.71417	1.000000	0.80357	0.505000	0.33919	3.787000	0.55439	0.537000	0.28751	-0.305000	0.09177	CGC		0.716	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211578.2	NM_000958		11	43	1	0	0.0692343	1	0.0699593	11	43				
ZNF180	7733	broad.mit.edu	37	19	44981658	44981658	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:44981658T>A	ENST00000221327.4	-	5	1321	c.1040A>T	c.(1039-1041)aAt>aTt	p.N347I	ZNF180_ENST00000391956.4_Missense_Mutation_p.N322I|ZNF180_ENST00000585514.1_5'Flank|ZNF180_ENST00000592529.1_Missense_Mutation_p.N320I|AC069278.4_ENST00000591684.1_lincRNA	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	347					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(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				CTCTTCAGAATTATTTCTCAT	0.388																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)	ENST00000221327.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33						c.(1039-1041)aAt>aTt		zinc finger protein 180							72.0	75.0	74.0					19																	44981658		2203	4300	6503	SO:0001583	missense	7733				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44981658T>A	AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"""Zinc fingers, C2H2-type"", ""-"""	12970	protein-coding gene	gene with protein product		606740	"""zinc finger protein 180 (HHZ168)"""				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.1040A>T	19.37:g.44981658T>A	ENSP00000221327:p.Asn347Ile					ZNF180_ENST00000592529.1_Missense_Mutation_p.N320I|ZNF180_ENST00000391956.4_Missense_Mutation_p.N322I	p.N347I	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN			5	1321	-		Prostate(69;0.0435)	347					B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP	ENST00000221327.4	37	c.1040A>T	CCDS12639.1	.	.	.	.	.	.	.	.	.	.	T	13.24	2.178046	0.38511	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.27402	1.67;5.68	5.01	4.0	0.46444	.	1.397220	0.04994	N	0.467916	T	0.24928	0.0605	N	0.16656	0.425	0.80722	D	1	B;B;B	0.29301	0.202;0.241;0.241	B;B;B	0.32149	0.087;0.141;0.141	T	0.02251	-1.1188	10	0.87932	D	0	-1.9405	8.5625	0.33520	0.0:0.0926:0.0:0.9074	.	322;346;347	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	I	347;322	ENSP00000221327:N347I;ENSP00000375818:N322I	ENSP00000221327:N347I	N	-	2	0	ZNF180	49673498	0.066000	0.20996	0.961000	0.40146	0.949000	0.60115	1.700000	0.37815	0.744000	0.32741	0.533000	0.62120	AAT		0.388	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256		50	147	0	0	0	1	0	50	147				
TMEM132E	124842	broad.mit.edu	37	17	32962097	32962097	+	Silent	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:32962097C>G	ENST00000321639.5	+	8	2026	c.1698C>G	c.(1696-1698)acC>acG	p.T566T		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	566						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CAGGCACCACCCCCTTTAAGG	0.582																																						ENST00000321639.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57						c.(1696-1698)acC>acG		transmembrane protein 132E							31.0	28.0	29.0					17																	32962097		2203	4300	6503	SO:0001819	synonymous_variant	124842					integral to membrane		g.chr17:32962097C>G	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.1698C>G	17.37:g.32962097C>G							p.T566T	NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	8	2026	+			566					Q8WUF4|Q8WVA5	Silent	SNP	ENST00000321639.5	37	c.1698C>G	CCDS11283.1																																																																																				0.582	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		3	18	0	0	0	1	0	3	18				
ACSM2B	348158	broad.mit.edu	37	16	20576070	20576070	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr16:20576070A>T	ENST00000329697.6	-	2	266	c.98T>A	c.(97-99)cTg>cAg	p.L33Q	ACSM2B_ENST00000567001.1_Missense_Mutation_p.L33Q|ACSM2B_ENST00000565232.1_Missense_Mutation_p.L33Q|ACSM2B_ENST00000565322.1_Intron|ACSM2B_ENST00000414188.2_Missense_Mutation_p.L33Q	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	33					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GCCCCACTGCAGGGACACCAG	0.517																																						ENST00000329697.6																			0				breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.(97-99)cTg>cAg		acyl-CoA synthetase medium-chain family member 2B							39.0	37.0	38.0					16																	20576070		2200	4278	6478	SO:0001583	missense	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20576070A>T	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.98T>A	16.37:g.20576070A>T	ENSP00000327453:p.Leu33Gln					ACSM2B_ENST00000567001.1_Missense_Mutation_p.L33Q|ACSM2B_ENST00000565232.1_Missense_Mutation_p.L33Q|ACSM2B_ENST00000565322.1_Intron|ACSM2B_ENST00000414188.2_Missense_Mutation_p.L33Q	p.L33Q	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN			2	266	-			33					Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	c.98T>A	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	A	6.268	0.417601	0.11870	.	.	ENSG00000066813	ENST00000329697;ENST00000414188	T;T	0.51817	0.69;0.69	3.27	0.617	0.17619	.	1.194550	0.06501	N	0.736320	T	0.23766	0.0575	N	0.04508	-0.205	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.19224	-1.0312	10	0.30078	T	0.28	-0.032	5.5169	0.16912	0.5269:0.0:0.0:0.4731	.	33;33	A8K051;Q68CK6	.;ACS2B_HUMAN	Q	33	ENSP00000327453:L33Q;ENSP00000390378:L33Q	ENSP00000327453:L33Q	L	-	2	0	ACSM2B	20483571	0.000000	0.05858	0.003000	0.11579	0.107000	0.19398	0.710000	0.25748	0.322000	0.23283	0.413000	0.27773	CTG		0.517	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		9	50	0	0	0	1	0	9	50				
SLAIN2	57606	broad.mit.edu	37	4	48379990	48379990	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:48379990A>C	ENST00000264313.6	+	3	1034	c.616A>C	c.(616-618)Agc>Cgc	p.S206R	SLAIN2_ENST00000512093.1_Missense_Mutation_p.S13R|SLAIN2_ENST00000506375.1_3'UTR	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	206					cytoplasmic microtubule organization (GO:0031122)|microtubule nucleation (GO:0007020)|positive regulation of microtubule polymerization (GO:0031116)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						AAATGCCAGTAGCCCATACAG	0.418																																						ENST00000264313.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						c.(616-618)Agc>Cgc		SLAIN motif family, member 2							113.0	111.0	112.0					4																	48379990		1891	4113	6004	SO:0001583	missense	57606					centrosome		g.chr4:48379990A>C	BC006139	CCDS47051.1	4p12	2008-02-05	2006-09-12	2006-09-12	ENSG00000109171	ENSG00000109171			29282	protein-coding gene	gene with protein product		610492	"""KIAA1458"""	KIAA1458		16546155	Standard	NM_020846		Approved	FLJ21611	uc003gya.4	Q9P270	OTTHUMG00000161701	ENST00000264313.6:c.616A>C	4.37:g.48379990A>C	ENSP00000264313:p.Ser206Arg					SLAIN2_ENST00000506375.1_3'UTR|SLAIN2_ENST00000512093.1_Missense_Mutation_p.S13R	p.S206R	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN			3	1034	+			206					A8K4P1|Q8N5R3	Missense_Mutation	SNP	ENST00000264313.6	37	c.616A>C	CCDS47051.1	.	.	.	.	.	.	.	.	.	.	A	18.03	3.533528	0.64972	.	.	ENSG00000109171	ENST00000264313;ENST00000512093	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.76877	0.4049	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.78628	-0.2130	9	0.72032	D	0.01	-11.0553	16.4277	0.83824	1.0:0.0:0.0:0.0	.	206	Q9P270	SLAI2_HUMAN	R	206;13	.	ENSP00000264313:S206R	S	+	1	0	SLAIN2	48074747	1.000000	0.71417	1.000000	0.80357	0.619000	0.37552	6.665000	0.74442	2.279000	0.76181	0.533000	0.62120	AGC		0.418	SLAIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365807.4	NM_020846		24	98	0	0	0	1	0	24	98				
CBLB	868	broad.mit.edu	37	3	105377969	105377969	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:105377969C>G	ENST00000264122.4	-	19	3115	c.2794G>C	c.(2794-2796)Gtc>Ctc	p.V932L	CBLB_ENST00000394027.3_Missense_Mutation_p.V910L|CBLB_ENST00000407712.1_Missense_Mutation_p.V147L	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	932	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TTTGCATCGACATTTTCCAAT	0.517			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	ENST00000264122.4				Rec	yes		3	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b			L			AML		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						c.(2794-2796)Gtc>Ctc		Cbl proto-oncogene B, E3 ubiquitin protein ligase							110.0	110.0	110.0					3																	105377969		2203	4300	6503	SO:0001583	missense	868				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	g.chr3:105377969C>G	U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.2794G>C	3.37:g.105377969C>G	ENSP00000264122:p.Val932Leu					CBLB_ENST00000394027.3_Missense_Mutation_p.V910L|CBLB_ENST00000407712.1_Missense_Mutation_p.V147L	p.V932L	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN			19	3115	-			932			UBA.		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	ENST00000264122.4	37	c.2794G>C	CCDS2948.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.335639	0.60853	.	.	ENSG00000114423	ENST00000394030;ENST00000264122;ENST00000407712;ENST00000394027	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	5.65	5.65	0.86999	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);	0.130360	0.50627	D	0.000106	T	0.48484	0.1502	N	0.02916	-0.46	0.80722	D	1	P;D;D	0.69078	0.934;0.997;0.997	P;D;D	0.79108	0.801;0.992;0.992	T	0.66097	-0.6008	10	0.87932	D	0	-14.3343	19.7289	0.96175	0.0:1.0:0.0:0.0	.	910;932;910	E7ENW2;Q13191;B4DYP3	.;CBLB_HUMAN;.	L	271;932;147;910	ENSP00000377598:V271L;ENSP00000264122:V932L;ENSP00000384170:V147L;ENSP00000377595:V910L	ENSP00000264122:V932L	V	-	1	0	CBLB	106860659	1.000000	0.71417	0.935000	0.37517	0.909000	0.53808	5.023000	0.64084	2.649000	0.89929	0.655000	0.94253	GTC		0.517	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662		33	131	0	0	0	1	0	33	131				
ROR1	4919	broad.mit.edu	37	1	64643490	64643490	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:64643490A>T	ENST00000371079.1	+	9	2141	c.1766A>T	c.(1765-1767)cAc>cTc	p.H589L	ROR1_ENST00000545203.1_Missense_Mutation_p.H40L	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	589	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						AGCCTGGACCACGGAGATTTT	0.478																																						ENST00000371079.1																			0				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						c.(1765-1767)cAc>cTc		receptor tyrosine kinase-like orphan receptor 1							70.0	72.0	71.0					1																	64643490		2203	4300	6503	SO:0001583	missense	4919				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr1:64643490A>T	M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"""Immunoglobulin superfamily / I-set domain containing"""	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.1766A>T	1.37:g.64643490A>T	ENSP00000360120:p.His589Leu					ROR1_ENST00000545203.1_Missense_Mutation_p.H40L	p.H589L	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN			9	2141	+			589			Protein kinase.		Q5VVX6|Q66K77|Q92776	Missense_Mutation	SNP	ENST00000371079.1	37	c.1766A>T	CCDS626.1	.	.	.	.	.	.	.	.	.	.	A	10.62	1.400105	0.25291	.	.	ENSG00000185483	ENST00000371079;ENST00000544776;ENST00000545203	T;T	0.60171	0.21;0.21	5.97	5.97	0.96955	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.44483	D	0.000460	T	0.21761	0.0524	N	0.05177	-0.1	0.80722	D	1	B	0.25904	0.137	B	0.30401	0.115	T	0.21381	-1.0247	10	0.11485	T	0.65	.	16.4608	0.84044	1.0:0.0:0.0:0.0	.	589	Q01973	ROR1_HUMAN	L	589;592;40	ENSP00000360120:H589L;ENSP00000441637:H40L	ENSP00000360120:H589L	H	+	2	0	ROR1	64416078	1.000000	0.71417	0.899000	0.35326	0.984000	0.73092	7.121000	0.77160	2.288000	0.76882	0.533000	0.62120	CAC		0.478	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025002.1	NM_005012		20	75	0	0	0	1	0	20	75				
PPP2R3A	5523	broad.mit.edu	37	3	135721181	135721181	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:135721181G>A	ENST00000264977.3	+	2	1458	c.841G>A	c.(841-843)Gta>Ata	p.V281I	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	281					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTATATGAATGTAATGACCAG	0.343																																						ENST00000264977.3																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(841-843)Gta>Ata		protein phosphatase 2, regulatory subunit B'', alpha							85.0	85.0	85.0					3																	135721181		2203	4300	6503	SO:0001583	missense	5523				protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	g.chr3:135721181G>A	L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.841G>A	3.37:g.135721181G>A	ENSP00000264977:p.Val281Ile					PPP2R3A_ENST00000490467.1_Intron	p.V281I	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN			2	1458	+			281					A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	ENST00000264977.3	37	c.841G>A	CCDS3087.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.277776	0.59758	.	.	ENSG00000073711	ENST00000264977	T	0.13196	2.61	5.34	5.34	0.76211	.	0.065729	0.64402	D	0.000016	T	0.19208	0.0461	M	0.61703	1.905	0.80722	D	1	P	0.49253	0.921	B	0.42882	0.401	T	0.01045	-1.1470	10	0.72032	D	0.01	.	14.4438	0.67336	0.0:0.1587:0.8412:0.0	.	281	Q06190	P2R3A_HUMAN	I	281	ENSP00000264977:V281I	ENSP00000264977:V281I	V	+	1	0	PPP2R3A	137203871	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.319000	0.59197	2.484000	0.83849	0.655000	0.94253	GTA		0.343	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718		21	99	0	0	0	1	0	21	99				
PCDHGA8	9708	broad.mit.edu	37	5	140773275	140773275	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:140773275G>A	ENST00000398604.2	+	1	895	c.895G>A	c.(895-897)Ggg>Agg	p.G299R	PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	299	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)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAAAATACTGGGGAAATATC	0.398																																						ENST00000398604.2																			0				endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(895-897)Ggg>Agg									84.0	89.0	88.0					5																	140773275		1821	4084	5905	SO:0001583	missense	9708							g.chr5:140773275G>A	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.895G>A	5.37:g.140773275G>A	ENSP00000381605:p.Gly299Arg					PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron	p.G299R	NM_032088.1	NP_114477.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	895	+								A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	37	c.895G>A	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	21.7	4.186697	0.78789	.	.	ENSG00000253767	ENST00000398604	D	0.91464	-2.85	5.41	5.41	0.78517	Cadherin (4);Cadherin-like (1);	0.000000	0.31113	U	0.008226	D	0.97882	0.9304	H	0.99659	4.685	0.47407	D	0.999417	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.99755	1.1019	10	0.87932	D	0	.	18.8047	0.92032	0.0:0.0:1.0:0.0	.	299;299	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	R	299	ENSP00000381605:G299R	ENSP00000381605:G299R	G	+	1	0	PCDHGA8	140753459	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.777000	0.99008	2.552000	0.86080	0.655000	0.94253	GGG		0.398	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		38	177	0	0	0	1	0	38	177				
TBR1	10716	broad.mit.edu	37	2	162276742	162276742	+	Silent	SNP	A	A	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:162276742A>G	ENST00000389554.3	+	5	1481	c.1164A>G	c.(1162-1164)gcA>gcG	p.A388A	TBR1_ENST00000489530.1_3'UTR|TBR1_ENST00000410035.1_Silent_p.A101A|AC009487.4_ENST00000444164.1_RNA|AC009487.4_ENST00000437683.1_RNA	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	388					axon guidance (GO:0007411)|brain development (GO:0007420)|hindbrain development (GO:0030902)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of neuron projection development (GO:0010975)|specification of organ identity (GO:0010092)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						ACCCTTTTGCAAAAGGATTTC	0.338																																						ENST00000389554.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						c.(1162-1164)gcA>gcG		T-box, brain, 1							119.0	118.0	119.0					2																	162276742		2203	4300	6503	SO:0001819	synonymous_variant	10716					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:162276742A>G	U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535		"""T-boxes"""	11590	protein-coding gene	gene with protein product		604616				7619531	Standard	NM_006593		Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.1164A>G	2.37:g.162276742A>G						TBR1_ENST00000410035.1_Silent_p.A101A|TBR1_ENST00000489530.1_3'UTR	p.A388A	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN			5	1481	+			388					B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Silent	SNP	ENST00000389554.3	37	c.1164A>G	CCDS33310.1																																																																																				0.338	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332845.1	NM_006593		17	96	0	0	0	1	0	17	96				
OR51S1	119692	broad.mit.edu	37	11	4870251	4870251	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:4870251A>T	ENST00000322101.2	-	1	263	c.188T>A	c.(187-189)cTg>cAg	p.L63Q	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGGCGGTGCAGGGCGGGCTG	0.572																																						ENST00000322101.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(187-189)cTg>cAg		olfactory receptor, family 51, subfamily S, member 1							115.0	92.0	100.0					11																	4870251		2201	4298	6499	SO:0001583	missense	119692				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4870251A>T	AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"""GPCR / Class A : Olfactory receptors"""	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.188T>A	11.37:g.4870251A>T	ENSP00000322754:p.Leu63Gln					MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.L63Q	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	263	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	63					B9EGZ1|Q6IFI2	Missense_Mutation	SNP	ENST00000322101.2	37	c.188T>A	CCDS31362.1	.	.	.	.	.	.	.	.	.	.	A	15.82	2.945096	0.53079	.	.	ENSG00000176922	ENST00000322101	T	0.14893	2.47	4.85	4.85	0.62838	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32703	N	0.005751	T	0.54581	0.1867	H	0.95884	3.735	0.39030	D	0.959921	D	0.89917	1.0	D	0.97110	1.0	T	0.71768	-0.4493	10	0.87932	D	0	-5.6057	13.4094	0.60933	1.0:0.0:0.0:0.0	.	63	Q8NGJ8	O51S1_HUMAN	Q	63	ENSP00000322754:L63Q	ENSP00000322754:L63Q	L	-	2	0	OR51S1	4826827	0.933000	0.31639	0.007000	0.13788	0.440000	0.31957	6.323000	0.72891	2.031000	0.59945	0.460000	0.39030	CTG		0.572	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142179.1	NM_001004758		27	113	0	0	0	1	0	27	113				
TTN	7273	broad.mit.edu	37	2	179435190	179435190	+	Silent	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:179435190T>A	ENST00000591111.1	-	276	70970	c.70746A>T	c.(70744-70746)acA>acT	p.T23582T	TTN_ENST00000589042.1_Silent_p.T25223T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.T16283T|TTN_ENST00000460472.2_Silent_p.T16158T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Silent_p.T22655T|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Silent_p.T16350T|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23582	Fibronectin type-III 71. {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)			TCCAAGCTAGTGTGCATTTTT	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.(75667-75669)acA>acT		titin							57.0	54.0	55.0					2																	179435190		1921	4121	6042	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179435190T>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.70746A>T	2.37:g.179435190T>A						TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Silent_p.T16158T|TTN_ENST00000359218.5_Silent_p.T16283T|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Silent_p.T22655T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.T16350T|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.T23582T|TTN-AS1_ENST00000590932.1_RNA	p.T25223T	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	75893	-			23582			Fibronectin type-III 83.		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	Silent	SNP	ENST00000591111.1	37	c.75669A>T																																																																																					0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	38	0	0	0	1	0	6	38				
NLRP1	22861	broad.mit.edu	37	17	5433956	5433956	+	Missense_Mutation	SNP	G	G	A	rs530274359		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:5433956G>A	ENST00000572272.1	-	12	3364	c.3365C>T	c.(3364-3366)gCg>gTg	p.A1122V	NLRP1_ENST00000354411.3_Missense_Mutation_p.A1092V|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000345221.3_Missense_Mutation_p.A1122V|NLRP1_ENST00000577119.1_Missense_Mutation_p.A1092V|NLRP1_ENST00000269280.4_Missense_Mutation_p.A1122V|NLRP1_ENST00000262467.5_Missense_Mutation_p.A1126V			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1122					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				AACGGTCACCGCTTCTCTCAT	0.557													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20284	0.0		0.0	False		,,,				2504	0.0					ENST00000345221.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(3364-3366)gCg>gTg		NLR family, pyrin domain containing 1							88.0	82.0	84.0					17																	5433956		2203	4300	6503	SO:0001583	missense	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5433956G>A	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.3365C>T	17.37:g.5433956G>A	ENSP00000460475:p.Ala1122Val					NLRP1_ENST00000354411.3_Missense_Mutation_p.A1092V|NLRP1_ENST00000572272.1_Missense_Mutation_p.A1122V|NLRP1_ENST00000577119.1_Missense_Mutation_p.A1092V|NLRP1_ENST00000262467.5_Missense_Mutation_p.A1126V|NLRP1_ENST00000269280.4_Missense_Mutation_p.A1122V|NLRP1_ENST00000571307.1_5'UTR	p.A1122V	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN			12	3919	-		Colorectal(1115;3.48e-05)	1122					E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	c.3365C>T	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.268493	0.59540	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221;ENST00000537069	T;T;T;T;T	0.18174	2.23;2.23;2.23;2.23;2.23	5.13	0.554	0.17241	.	0.442525	0.16870	N	0.196164	T	0.31857	0.0810	M	0.70275	2.135	0.09310	N	1	D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999;0.998	D;D;D;D;D;D	0.68192	0.921;0.926;0.926;0.956;0.926;0.92	T	0.04005	-1.0985	10	0.66056	D	0.02	.	4.9423	0.13973	0.1727:0.0:0.5316:0.2956	.	388;1092;1092;1122;1122;1126	F5H042;Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;.;NALP1_HUMAN;.;.	V	1126;1126;1122;1092;1122;388	ENSP00000442029:A1126V;ENSP00000262467:A1126V;ENSP00000269280:A1122V;ENSP00000346390:A1092V;ENSP00000324366:A1122V	ENSP00000262467:A1126V	A	-	2	0	NLRP1	5374680	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	0.348000	0.20031	0.642000	0.30620	0.555000	0.69702	GCG		0.557	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		35	77	0	0	0	1	0	35	77				
NCAPD3	23310	broad.mit.edu	37	11	134023222	134023222	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:134023222C>G	ENST00000534548.2	-	33	4353	c.4289G>C	c.(4288-4290)aGt>aCt	p.S1430T	NCAPD3_ENST00000526787.2_5'UTR	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1430					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CCCGATGTAACTGACCCCTGC	0.532																																						ENST00000534548.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(4288-4290)aGt>aCt		non-SMC condensin II complex, subunit D3							232.0	195.0	207.0					11																	134023222		2201	4297	6498	SO:0001583	missense	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134023222C>G	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.4289G>C	11.37:g.134023222C>G	ENSP00000433681:p.Ser1430Thr					NCAPD3_ENST00000526787.2_5'UTR	p.S1430T	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	33	4353	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	1430					A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	c.4289G>C	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.586473	0.86851	.	.	ENSG00000151503	ENST00000534548	T	0.29917	1.55	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.56659	0.2000	M	0.66939	2.045	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.955	T	0.56974	-0.7890	10	0.72032	D	0.01	-23.0868	19.422	0.94726	0.0:1.0:0.0:0.0	.	1430;490	P42695;Q96FA6	CNDD3_HUMAN;.	T	1430	ENSP00000433681:S1430T	ENSP00000433681:S1430T	S	-	2	0	NCAPD3	133528432	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	5.164000	0.64954	2.759000	0.94783	0.561000	0.74099	AGT		0.532	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		51	212	0	0	0	1	0	51	212				
LAMA2	3908	broad.mit.edu	37	6	129837451	129837451	+	Missense_Mutation	SNP	G	G	A	rs140829166		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:129837451G>A	ENST00000421865.2	+	65	9377	c.9328G>A	c.(9328-9330)Gaa>Aaa	p.E3110K		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	3110	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CAAGGCCCTGGAACTGAGGGG	0.463																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(9328-9330)Gaa>Aaa		laminin, alpha 2		G	LYS/GLU,LYS/GLU	0,4406		0,0,2203	77.0	70.0	73.0		9328,9316	5.8	1.0	6	dbSNP_134	73	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	LAMA2	NM_000426.3,NM_001079823.1	56,56	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	3110/3123,3106/3119	129837451	2,13004	2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129837451G>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.9328G>A	6.37:g.129837451G>A	ENSP00000400365:p.Glu3110Lys						p.E3110K	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	65	9377	+			3110			Laminin G-like 5.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.9328G>A	CCDS5138.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.424434|5.424434	0.96111|0.96111	0.0|0.0	2.33E-4|2.33E-4	ENSG00000196569|ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865|ENST00000443169	T|.	0.44482|.	0.92|.	5.79|5.79	5.79|5.79	0.91817|0.91817	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);|.	0.205104|.	0.53938|.	D|.	0.000050|.	T|.	0.67154|.	0.2863|.	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.998|.	D;D|.	0.79108|.	0.992;0.983|.	T|.	0.62483|.	-0.6845|.	9|.	.|.	.|.	.|.	.|.	20.0371|20.0371	0.97565|0.97565	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3111;3110|.	A6NF00;P24043|.	.;LAMA2_HUMAN|.	K|X	3110;3109;3110|1127	ENSP00000400365:E3110K|.	.|.	E|W	+|+	1|3	0|0	LAMA2|LAMA2	129879144|129879144	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.284000|9.284000	0.95882|0.95882	2.734000|2.734000	0.93682|0.93682	0.655000|0.655000	0.94253|0.94253	GAA|TGG		0.463	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			53	60	0	0	0	1	0	53	60				
TMEM132B	114795	broad.mit.edu	37	12	126128738	126128738	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:126128738G>T	ENST00000299308.3	+	6	1547	c.1539G>T	c.(1537-1539)tgG>tgT	p.W513C	TMEM132B_ENST00000535886.1_Missense_Mutation_p.W25C	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	513						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TCACTGTCTGGGCACCCAGGC	0.532																																						ENST00000299308.3																			0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.(1537-1539)tgG>tgT		transmembrane protein 132B							73.0	76.0	75.0					12																	126128738		2000	4180	6180	SO:0001583	missense	114795					integral to membrane		g.chr12:126128738G>T	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1539G>T	12.37:g.126128738G>T	ENSP00000299308:p.Trp513Cys					TMEM132B_ENST00000535886.1_Missense_Mutation_p.W25C	p.W513C	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	6	1547	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		513					A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.1539G>T	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.978037	0.53720	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.28666	1.6;1.6	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000001	T	0.61048	0.2316	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65298	-0.6202	10	0.87932	D	0	.	19.4324	0.94776	0.0:0.0:1.0:0.0	.	513	Q14DG7	T132B_HUMAN	C	513;25	ENSP00000299308:W513C;ENSP00000440436:W25C	ENSP00000299308:W513C	W	+	3	0	TMEM132B	124694691	1.000000	0.71417	0.989000	0.46669	0.047000	0.14425	9.449000	0.97603	2.578000	0.87016	0.655000	0.94253	TGG		0.532	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		12	61	1	0	4.3838e-07	1	5.05119e-07	12	61				
DAPK1	1612	broad.mit.edu	37	9	90252865	90252865	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:90252865G>T	ENST00000408954.3	+	4	627	c.292G>T	c.(292-294)Ggt>Tgt	p.G98C	DAPK1_ENST00000469640.2_Missense_Mutation_p.G98C|DAPK1_ENST00000358077.5_Missense_Mutation_p.G98C|DAPK1_ENST00000491893.1_Missense_Mutation_p.G98C|DAPK1_ENST00000472284.1_Missense_Mutation_p.G98C	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	98	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)			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						CAGCGTTGCAGGTGGCGAGCT	0.408									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.(292-294)Ggt>Tgt		death-associated protein kinase 1							106.0	106.0	106.0					9																	90252865		2078	4244	6322	SO:0001583	missense	1612	Chronic Lymphocytic Leukemia, Familial Clustering of	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.chr9:90252865G>T	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.292G>T	9.37:g.90252865G>T	ENSP00000386135:p.Gly98Cys					DAPK1_ENST00000491893.1_Missense_Mutation_p.G98C|DAPK1_ENST00000358077.5_Missense_Mutation_p.G98C|DAPK1_ENST00000472284.1_Missense_Mutation_p.G98C|DAPK1_ENST00000408954.3_Missense_Mutation_p.G98C	p.G98C			P53355	DAPK1_HUMAN			4	667	+			98			Protein kinase.		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	c.292G>T	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.932228	0.92389	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68	5.26	5.26	0.73747	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	0.49305	D	0.000152	T	0.75117	0.3806	M	0.89478	3.035	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	0.79818	-0.1643	10	0.87932	D	0	.	19.0661	0.93110	0.0:0.0:1.0:0.0	.	98;98;98	B7ZLE7;B7Z454;P53355	.;.;DAPK1_HUMAN	C	98	ENSP00000350785:G98C;ENSP00000417076:G98C;ENSP00000418885:G98C;ENSP00000386135:G98C;ENSP00000419026:G98C	ENSP00000350785:G98C	G	+	1	0	DAPK1	89442685	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	9.657000	0.98554	2.746000	0.94184	0.655000	0.94253	GGT		0.408	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		27	110	1	0	2.79863e-10	1	3.47354e-10	27	110				
CCAR1	55749	broad.mit.edu	37	10	70549469	70549469	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:70549469G>T	ENST00000265872.6	+	24	3309	c.3190G>T	c.(3190-3192)Gaa>Taa	p.E1064*	CCAR1_ENST00000543719.1_Nonsense_Mutation_p.E1049*|CCAR1_ENST00000535016.1_Nonsense_Mutation_p.E1049*	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	1064					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						TTAAACAGATGAAGATGAAAA	0.269																																						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.(3190-3192)Gaa>Taa		cell division cycle and apoptosis regulator 1							20.0	22.0	21.0					10																	70549469		2165	4273	6438	SO:0001587	stop_gained	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.chr10:70549469G>T	AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.3190G>T	10.37:g.70549469G>T	ENSP00000265872:p.Glu1064*					CCAR1_ENST00000535016.1_Nonsense_Mutation_p.E1049*|CCAR1_ENST00000543719.1_Nonsense_Mutation_p.E1049*	p.E1064*	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN			24	3309	+			1064					A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Nonsense_Mutation	SNP	ENST00000265872.6	37	c.3190G>T	CCDS7282.1	.	.	.	.	.	.	.	.	.	.	G	41	8.883301	0.98990	.	.	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-15.6879	19.9173	0.97066	0.0:0.0:1.0:0.0	.	.	.	.	X	1064;1049;1049	.	ENSP00000265872:E1064X	E	+	1	0	CCAR1	70219475	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.524000	0.60552	2.701000	0.92244	0.650000	0.86243	GAA		0.269	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237		5	41	1	0	0.014758	1	0.0150306	5	41				
STEAP4	79689	broad.mit.edu	37	7	87912010	87912010	+	Silent	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:87912010C>A	ENST00000380079.4	-	3	1031	c.930G>T	c.(928-930)gtG>gtT	p.V310V	STEAP4_ENST00000414498.1_Silent_p.V310V|AC003991.3_ENST00000595121.1_RNA|STEAP4_ENST00000301959.5_Intron|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000434733.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	310	Ferric oxidoreductase.				copper ion import (GO:0015677)|fat cell differentiation (GO:0045444)|ferric iron import into cell (GO:0097461)|iron ion homeostasis (GO:0055072)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					GAATAGGAATCACAAGTGTGT	0.443																																						ENST00000380079.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15						c.(928-930)gtG>gtT		STEAP family member 4							71.0	68.0	69.0					7																	87912010		1952	4153	6105	SO:0001819	synonymous_variant	79689				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:87912010C>A	AK026806	CCDS43611.1, CCDS56494.1	7q21.13	2014-01-28	2005-06-15	2005-06-15	ENSG00000127954	ENSG00000127954			21923	protein-coding gene	gene with protein product		611098	"""tumor necrosis factor, alpha-induced protein 9"""	TNFAIP9		11443137, 15897894	Standard	NM_024636		Approved	FLJ23153, TIARP, STAMP2	uc003ujs.3	Q687X5	OTTHUMG00000153853	ENST00000380079.4:c.930G>T	7.37:g.87912010C>A						STEAP4_ENST00000301959.5_Intron|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000414498.1_Silent_p.V310V|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000434733.1_RNA	p.V310V	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN			3	1031	-	Esophageal squamous(14;0.00802)		310			Ferric oxidoreductase.		Q658Q9|Q687X4|Q8WWB0|Q9H5R1	Silent	SNP	ENST00000380079.4	37	c.930G>T	CCDS43611.1																																																																																				0.443	STEAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332712.4	NM_024636		12	66	1	0	2.27111e-07	1	2.64051e-07	12	66				
TTN	7273	broad.mit.edu	37	2	179642595	179642595	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:179642595G>T	ENST00000591111.1	-	25	4540	c.4316C>A	c.(4315-4317)cCt>cAt	p.P1439H	TTN_ENST00000589042.1_Missense_Mutation_p.P1439H|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P1393H|TTN_ENST00000460472.2_Missense_Mutation_p.P1393H|TTN_ENST00000342992.6_Missense_Mutation_p.P1439H|TTN_ENST00000360870.5_Missense_Mutation_p.P1439H|TTN_ENST00000342175.6_Missense_Mutation_p.P1393H			Q8WZ42	TITIN_HUMAN	titin	33635	ZIS5.				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)	p.P1439H(3)|p.P1393H(3)		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)			CCTACGTCCAGGGGACATTCT	0.483																																						ENST00000589042.1																			6	Substitution - Missense(6)	p.P1439H(3)|p.P1393H(3)	lung(6)	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.(4315-4317)cCt>cAt		titin							69.0	69.0	69.0					2																	179642595		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179642595G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.4316C>A	2.37:g.179642595G>T	ENSP00000465570:p.Pro1439His					TTN_ENST00000460472.2_Missense_Mutation_p.P1393H|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P1393H|TTN_ENST00000342992.6_Missense_Mutation_p.P1439H|TTN_ENST00000360870.5_Missense_Mutation_p.P1439H|TTN_ENST00000342175.6_Missense_Mutation_p.P1393H|TTN_ENST00000591111.1_Missense_Mutation_p.P1439H	p.P1439H	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)		25	4540	-			1439			ZIS5.		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.4316C>A		.	.	.	.	.	.	.	.	.	.	G	14.96	2.692637	0.48202	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.65732	-0.17;0.03;-0.01;-0.02;0.2	5.45	5.45	0.79879	Ribonuclease H-like (1);	.	.	.	.	T	0.77850	0.4192	M	0.65498	2.005	0.30083	N	0.809037	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.997;0.997;0.997;0.997;0.999	T	0.75396	-0.3332	9	0.87932	D	0	.	15.1499	0.72689	0.0:0.0:1.0:0.0	.	1393;1393;1393;1439;1439	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	H	1439;1393;1393;1393;1393;1439	ENSP00000343764:P1439H;ENSP00000434586:P1393H;ENSP00000340554:P1393H;ENSP00000352154:P1393H;ENSP00000354117:P1439H	ENSP00000340554:P1393H	P	-	2	0	TTN	179350840	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.218000	0.95166	2.723000	0.93209	0.650000	0.86243	CCT		0.483	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		26	68	1	0	6.32553e-13	1	8.24883e-13	26	68				
LGR6	59352	broad.mit.edu	37	1	202287897	202287897	+	Silent	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:202287897C>G	ENST00000367278.3	+	18	2555	c.2466C>G	c.(2464-2466)ctC>ctG	p.L822L	LGR6_ENST00000439764.2_Silent_p.L683L|LGR6_ENST00000255432.7_Silent_p.L770L	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	822					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CTGCCTGCCTCAACCCACTGC	0.667																																						ENST00000367278.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						c.(2464-2466)ctC>ctG		leucine-rich repeat containing G protein-coupled receptor 6							106.0	101.0	103.0					1																	202287897		2203	4300	6503	SO:0001819	synonymous_variant	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202287897C>G	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.2466C>G	1.37:g.202287897C>G						LGR6_ENST00000439764.2_Silent_p.L683L|LGR6_ENST00000255432.7_Silent_p.L770L	p.L822L	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN			18	2555	+			822					Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Silent	SNP	ENST00000367278.3	37	c.2466C>G	CCDS30971.1																																																																																				0.667	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		70	149	0	0	0	1	0	70	149				
ILVBL	10994	broad.mit.edu	37	19	15228702	15228702	+	Silent	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:15228702C>T	ENST00000263383.3	-	10	1315	c.1176G>A	c.(1174-1176)gaG>gaA	p.E392E	ILVBL_ENST00000534378.1_Silent_p.E285E|ILVBL_ENST00000531635.1_5'Flank	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	392						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						CCTGCACAGCCTCCTGGGGCT	0.562																																						ENST00000263383.3																			0				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						c.(1174-1176)gaG>gaA		ilvB (bacterial acetolactate synthase)-like							91.0	84.0	86.0					19																	15228702		2203	4300	6503	SO:0001819	synonymous_variant	10994					integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity	g.chr19:15228702C>T	U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"""acetolactate synthase homolog"""	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.1176G>A	19.37:g.15228702C>T						ILVBL_ENST00000534378.1_Silent_p.E285E	p.E392E	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN			10	1315	-			392					O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Silent	SNP	ENST00000263383.3	37	c.1176G>A	CCDS12325.1																																																																																				0.562	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385439.1	NM_006844		21	82	0	0	0	1	0	21	82				
PCK1	5105	broad.mit.edu	37	20	56139391	56139391	+	Silent	SNP	G	G	C	rs200264001		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr20:56139391G>C	ENST00000319441.4	+	7	1292	c.1128G>C	c.(1126-1128)ccG>ccC	p.P376P	PCK1_ENST00000543666.1_Silent_p.P59P|PCK1_ENST00000535860.1_Silent_p.P244P	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	376					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TTGATGAGCCGCTAGCTTCAG	0.567																																						ENST00000319441.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34						c.(1126-1128)ccG>ccC		phosphoenolpyruvate carboxykinase 1 (soluble)							101.0	89.0	93.0					20																	56139391		2203	4300	6503	SO:0001819	synonymous_variant	5105				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr20:56139391G>C		CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.1128G>C	20.37:g.56139391G>C						PCK1_ENST00000543666.1_Silent_p.P59P|PCK1_ENST00000535860.1_Silent_p.P244P	p.P376P	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		7	1292	+	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		376					A8K437|B4DT64|Q8TCA3|Q9UJD2	Silent	SNP	ENST00000319441.4	37	c.1128G>C	CCDS13460.1																																																																																				0.567	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			15	54	0	0	0	1	0	15	54				
STAMBPL1	57559	broad.mit.edu	37	10	90665297	90665297	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:90665297G>T	ENST00000371926.3	+	3	1086	c.128G>T	c.(127-129)aGt>aTt	p.S43I	STAMBPL1_ENST00000371924.1_Missense_Mutation_p.S43I|STAMBPL1_ENST00000371927.3_Missense_Mutation_p.S43I	NM_020799.3	NP_065850.1	Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	43						membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		ATCACCATCAGTGAAGACATC	0.453																																						ENST00000371927.3																			0				breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11						c.(127-129)aGt>aTt		STAM binding protein-like 1							162.0	147.0	152.0					10																	90665297		2203	4300	6503	SO:0001583	missense	57559						metal ion binding|metallopeptidase activity|protein binding	g.chr10:90665297G>T	AB037794	CCDS7391.1	10q23.32	2006-11-08			ENSG00000138134	ENSG00000138134			24105	protein-coding gene	gene with protein product	"""associated molecule with the SH3 domain of STAM (AMSH) like protein"", ""associated molecule with the SH3 domain of STAM (AMSH) - Family Protein"""	612352				12810066, 12943674	Standard	NM_020799		Approved	AMSH-LP, KIAA1373, AMSH-FP, FLJ31524, ALMalpha, bA399O19.2	uc001kfk.4	Q96FJ0	OTTHUMG00000018702	ENST00000371926.3:c.128G>T	10.37:g.90665297G>T	ENSP00000360994:p.Ser43Ile					STAMBPL1_ENST00000371924.1_Missense_Mutation_p.S43I|STAMBPL1_ENST00000371926.3_Missense_Mutation_p.S43I	p.S43I			Q96FJ0	STALP_HUMAN		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)	3	1086	+		Colorectal(252;0.0381)	43					B3KPA7|Q5T9N4|Q5T9N9|Q7Z420|Q9P2H4	Missense_Mutation	SNP	ENST00000371926.3	37	c.128G>T	CCDS7391.1	.	.	.	.	.	.	.	.	.	.	G	9.295	1.051681	0.19827	.	.	ENSG00000138134	ENST00000371926;ENST00000371927;ENST00000371924	T;T;T	0.23950	1.89;1.88;1.89	5.24	-7.07	0.01563	.	0.242716	0.46145	D	0.000316	T	0.11879	0.0289	N	0.12182	0.205	0.80722	D	1	B;B	0.19331	0.035;0.013	B;B	0.23018	0.043;0.009	T	0.03807	-1.1002	10	0.56958	D	0.05	-1.027	13.1219	0.59331	0.7529:0.1063:0.1408:0.0	.	43;43	Q96FJ0-2;Q96FJ0	.;STALP_HUMAN	I	43	ENSP00000360994:S43I;ENSP00000360995:S43I;ENSP00000360992:S43I	ENSP00000360992:S43I	S	+	2	0	STAMBPL1	90655277	0.020000	0.18652	0.002000	0.10522	0.114000	0.19823	0.436000	0.21526	-1.444000	0.01950	-0.136000	0.14681	AGT		0.453	STAMBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049283.1	NM_020799		25	99	1	0	3.08376e-08	1	3.65693e-08	25	99				
DNAH3	55567	broad.mit.edu	37	16	21073917	21073917	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr16:21073917G>T	ENST00000261383.3	-	25	3605	c.3606C>A	c.(3604-3606)tgC>tgA	p.C1202*	DNAH3_ENST00000415178.1_Nonsense_Mutation_p.C1202*	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1202	Stem. {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)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTCCTTCAAAGCACTTCTTCA	0.433																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(3604-3606)tgC>tgA		dynein, axonemal, heavy chain 3							115.0	106.0	109.0					16																	21073917		2201	4300	6501	SO:0001587	stop_gained	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21073917G>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.3606C>A	16.37:g.21073917G>T	ENSP00000261383:p.Cys1202*					DNAH3_ENST00000415178.1_Nonsense_Mutation_p.C1202*	p.C1202*	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	25	3605	-			1202			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Nonsense_Mutation	SNP	ENST00000261383.3	37	c.3606C>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	43	10.036290	0.99323	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	.	.	.	5.63	1.49	0.22878	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.5556	0.45114	0.3452:0.0:0.6548:0.0	.	.	.	.	X	1202	.	ENSP00000261383:C1202X	C	-	3	2	DNAH3	20981418	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.967000	0.40491	0.338000	0.23692	-0.812000	0.03155	TGC		0.433	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		32	136	1	0	1.88708e-17	1	2.64878e-17	32	136				
MAGEA10	4109	broad.mit.edu	37	X	151303039	151303039	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chrX:151303039T>A	ENST00000370323.4	-	4	1370	c.1054A>T	c.(1054-1056)Act>Tct	p.T352S	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Missense_Mutation_p.T352S	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	352						nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GCCATGGCAGTAGTATCATCT	0.453																																						ENST00000370323.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1054-1056)Act>Tct		melanoma antigen family A, 10							192.0	162.0	172.0					X																	151303039		2203	4300	6503	SO:0001583	missense	4109							g.chrX:151303039T>A		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"""MAGE-10 antigen"", ""melanoma-associated antigen 10"", ""cancer/testis antigen family 1, member 10"""	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.1054A>T	X.37:g.151303039T>A	ENSP00000359347:p.Thr352Ser					MAGEA10_ENST00000244096.3_Missense_Mutation_p.T352S|RP11-1007I13.4_ENST00000509345.2_RNA	p.T352S	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN			4	1370	-	Acute lymphoblastic leukemia(192;6.56e-05)		352						Missense_Mutation	SNP	ENST00000370323.4	37	c.1054A>T	CCDS14705.1	.	.	.	.	.	.	.	.	.	.	T	10.11	1.259840	0.23051	.	.	ENSG00000124260	ENST00000370323;ENST00000244096	T;T	0.01584	4.75;4.75	2.07	-2.77	0.05877	.	.	.	.	.	T	0.01189	0.0039	L	0.35288	1.05	0.09310	N	1	B	0.18310	0.027	B	0.06405	0.002	T	0.49293	-0.8955	9	0.08599	T	0.76	.	2.9557	0.05876	0.0:0.3364:0.2451:0.4185	.	352	P43363	MAGAA_HUMAN	S	352	ENSP00000359347:T352S;ENSP00000244096:T352S	ENSP00000244096:T352S	T	-	1	0	MAGEA10	151053695	0.000000	0.05858	0.000000	0.03702	0.466000	0.32739	-0.627000	0.05521	-0.794000	0.04468	0.242000	0.17961	ACT		0.453	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		65	75	0	0	0	1	0	65	75				
CCT8	10694	broad.mit.edu	37	21	30445983	30445983	+	De_novo_Start_OutOfFrame	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr21:30445983T>A	ENST00000286788.4	-	0	135				CCT8_ENST00000470450.1_5'Flank|CCT8_ENST00000540844.1_5'Flank|CCT8_ENST00000542732.1_5'Flank	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)						'de novo' posttranslational protein folding (GO:0051084)|ATP catabolic process (GO:0006200)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	aggresome (GO:0016235)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						ACGCACAGCCTTCTGGGAAAG	0.647																																						ENST00000286788.4																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14								chaperonin containing TCP1, subunit 8 (theta)							27.0	24.0	25.0					21																	30445983		692	1591	2283			10694				'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding	g.chr21:30445983T>A	Z37163	CCDS33528.1, CCDS68180.1	21q21.3	2011-09-02			ENSG00000156261	ENSG00000156261		"""Heat Shock Proteins / Chaperonins"""	1623	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 112"""	C21orf112		7890169	Standard	NM_006585		Approved	Cctq, PRED71	uc002ynb.3	P50990	OTTHUMG00000044595	ENST00000286788.4:c.-72A>T	21.37:g.30445983T>A								NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN			0	135	-								A6NN54|B4DEM7|B4DQH4|Q4VBP8	Translation_Start_Site	SNP	ENST00000286788.4	37		CCDS33528.1																																																																																				0.647	CCT8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171822.1			6	39	0	0	0	1	0	6	39				
EPHA5	2044	broad.mit.edu	37	4	66201718	66201718	+	Silent	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:66201718T>A	ENST00000273854.3	-	16	3384	c.2784A>T	c.(2782-2784)atA>atT	p.I928I	EPHA5_ENST00000511294.1_Silent_p.I929I|EPHA5_ENST00000432638.2_Silent_p.I765I|EPHA5_ENST00000354839.4_Silent_p.I906I	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	928	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ACATGTTGACTATTTCATCAA	0.473										TSP Lung(17;0.13)																												ENST00000273854.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(2782-2784)atA>atT		EPH receptor A5							194.0	170.0	178.0					4																	66201718		2203	4299	6502	SO:0001819	synonymous_variant	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66201718T>A	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2784A>T	4.37:g.66201718T>A		TSP Lung(17;0.13)				EPHA5_ENST00000432638.2_Silent_p.I765I|EPHA5_ENST00000511294.1_Silent_p.I929I|EPHA5_ENST00000354839.4_Silent_p.I906I	p.I928I	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN			16	3384	-			928			Protein kinase.		Q7Z3F2	Silent	SNP	ENST00000273854.3	37	c.2784A>T	CCDS3513.1																																																																																				0.473	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		24	79	0	0	0	1	0	24	79				
COL19A1	1310	broad.mit.edu	37	6	70840116	70840116	+	Splice_Site	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:70840116G>A	ENST00000322773.4	+	18	1485		c.e18+1		COL19A1_ENST00000393344.1_Splice_Site	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1						cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AGGAGACAAGGTAATCAGAtt	0.408																																						ENST00000322773.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						c.e18+1		collagen, type XIX, alpha 1							63.0	67.0	65.0					6																	70840116		2203	4300	6503	SO:0001630	splice_region_variant	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70840116G>A		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.1383+1G>A	6.37:g.70840116G>A						COL19A1_ENST00000393344.1_Splice_Site		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN			18	1485	+								Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Splice_Site	SNP	ENST00000322773.4	37		CCDS4970.1	.	.	.	.	.	.	.	.	.	.	G	8.486	0.860806	0.17178	.	.	ENSG00000082293	ENST00000322773;ENST00000393344;ENST00000455415	.	.	.	2.52	0.659	0.17861	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.7008	0.12827	0.3156:0.0:0.6844:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL19A1	70896837	1.000000	0.71417	0.997000	0.53966	0.498000	0.33706	0.540000	0.23191	0.150000	0.19136	0.467000	0.42956	.		0.408	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1		Intron	11	36	0	0	0	1	0	11	36				
TRRAP	8295	broad.mit.edu	37	7	98608777	98608777	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:98608777A>T	ENST00000359863.4	+	70	11208	c.10999A>T	c.(10999-11001)Acg>Tcg	p.T3667S	TRRAP_ENST00000355540.3_Missense_Mutation_p.T3638S|AC004893.11_ENST00000360902.1_RNA|TRRAP_ENST00000446306.3_Missense_Mutation_p.T3656S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3667	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGACTACTGGACGTTCCGGAA	0.552																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(10999-11001)Acg>Tcg		transformation/transcription domain-associated protein							104.0	96.0	99.0					7																	98608777		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98608777A>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.10999A>T	7.37:g.98608777A>T	ENSP00000352925:p.Thr3667Ser					TRRAP_ENST00000355540.3_Missense_Mutation_p.T3638S|TRRAP_ENST00000446306.3_Missense_Mutation_p.T3656S	p.T3667S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		70	11208	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		3667			PI3K/PI4K.		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.10999A>T	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	A	29.8	5.036548	0.93630	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.74737	-0.87;-0.87	5.53	5.53	0.82687	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	T	0.79581	0.4470	M	0.64567	1.98	0.80722	D	1	D;B;B	0.57899	0.981;0.152;0.152	P;B;B	0.56278	0.795;0.222;0.222	T	0.75929	-0.3144	10	0.12103	T	0.63	.	15.6745	0.77303	1.0:0.0:0.0:0.0	.	3638;3395;3667	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	S	3667;3638;3655	ENSP00000352925:T3667S;ENSP00000347733:T3638S	ENSP00000347733:T3638S	T	+	1	0	TRRAP	98446713	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.336000	0.72954	2.109000	0.64355	0.459000	0.35465	ACG		0.552	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		34	73	0	0	0	1	0	34	73				
SOD3	6649	broad.mit.edu	37	4	24801457	24801457	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:24801457A>T	ENST00000382120.3	+	2	519	c.314A>T	c.(313-315)gAg>gTg	p.E105V		NM_003102.2	NP_003093.2	P08294	SODE_HUMAN	superoxide dismutase 3, extracellular	105					removal of superoxide radicals (GO:0019430)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	copper ion binding (GO:0005507)|heparin binding (GO:0008201)|superoxide dismutase activity (GO:0004784)|zinc ion binding (GO:0008270)			prostate(1)|urinary_tract(1)	2		Breast(46;0.0503)				TTCCCGACCGAGCCGAACAGC	0.731																																						ENST00000382120.3																			0				prostate(1)|urinary_tract(1)	2						c.(313-315)gAg>gTg		superoxide dismutase 3, extracellular							10.0	11.0	10.0					4																	24801457		1823	3776	5599	SO:0001583	missense	6649				removal of superoxide radicals	extracellular space|nucleus|soluble fraction	copper ion binding|heparin binding|protein binding|superoxide dismutase activity|zinc ion binding	g.chr4:24801457A>T		CCDS3430.1	4p15.2	2012-09-20			ENSG00000109610	ENSG00000109610	1.15.1.1		11181	protein-coding gene	gene with protein product		185490					Standard	NM_003102		Approved	EC-SOD	uc003gqz.3	P08294	OTTHUMG00000128565	ENST00000382120.3:c.314A>T	4.37:g.24801457A>T	ENSP00000371554:p.Glu105Val						p.E105V	NM_003102.2	NP_003093.2	P08294	SODE_HUMAN			2	519	+		Breast(46;0.0503)	105					Q5U781|Q6FHA2	Missense_Mutation	SNP	ENST00000382120.3	37	c.314A>T	CCDS3430.1	.	.	.	.	.	.	.	.	.	.	A	12.14	1.849617	0.32699	.	.	ENSG00000109610	ENST00000382120	D	0.99586	-6.23	5.04	3.78	0.43462	Superoxide dismutase, copper/zinc binding domain (3);	0.186118	0.44902	D	0.000418	D	0.98128	0.9382	L	0.54908	1.71	0.29387	N	0.8629	B	0.09022	0.002	B	0.06405	0.002	D	0.96234	0.9170	10	0.35671	T	0.21	-0.9392	6.1342	0.20221	0.776:0.0:0.0793:0.1447	.	105	P08294	SODE_HUMAN	V	105	ENSP00000371554:E105V	ENSP00000371554:E105V	E	+	2	0	SOD3	24410555	0.019000	0.18553	0.057000	0.19452	0.316000	0.28119	2.455000	0.44988	1.888000	0.54679	0.454000	0.30748	GAG		0.731	SOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250416.1			4	19	0	0	0	1	0	4	19				
DNAH5	1767	broad.mit.edu	37	5	13922337	13922337	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:13922337C>A	ENST00000265104.4	-	5	643	c.539G>T	c.(538-540)aGc>aTc	p.S180I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	180	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCAGCCATGGCTCGTGGCTCT	0.562									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(538-540)aGc>aTc		dynein, axonemal, heavy chain 5							71.0	63.0	66.0					5																	13922337		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13922337C>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.539G>T	5.37:g.13922337C>A	ENSP00000265104:p.Ser180Ile						p.S180I	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			5	643	-	Lung NSC(4;0.00476)		180			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.539G>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	.	13.32	2.200970	0.38905	.	.	ENSG00000039139	ENST00000265104	T	0.25250	1.81	5.55	2.42	0.29668	.	0.602245	0.18133	N	0.150663	T	0.19327	0.0464	L	0.43152	1.355	0.09310	N	1	B	0.25772	0.134	B	0.27262	0.078	T	0.21930	-1.0231	10	0.51188	T	0.08	.	4.2402	0.10645	0.0:0.3414:0.1711:0.4874	.	180	Q8TE73	DYH5_HUMAN	I	180	ENSP00000265104:S180I	ENSP00000265104:S180I	S	-	2	0	DNAH5	13975337	1.000000	0.71417	0.328000	0.25416	0.941000	0.58515	2.631000	0.46502	0.213000	0.20722	0.561000	0.74099	AGC		0.562	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		14	48	1	0	4.36969e-10	1	5.39744e-10	14	48				
TFAP2D	83741	broad.mit.edu	37	6	50683291	50683291	+	Missense_Mutation	SNP	C	C	A	rs563113838		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:50683291C>A	ENST00000008391.3	+	2	730	c.502C>A	c.(502-504)Ctg>Atg	p.L168M		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					AGGGCCCAGCCTGGGGCTGGC	0.632																																						ENST00000008391.3																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60						c.(502-504)Ctg>Atg		transcription factor AP-2 delta (activating enhancer binding protein 2 delta)							41.0	51.0	48.0					6																	50683291		2149	4200	6349	SO:0001583	missense	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50683291C>A	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.502C>A	6.37:g.50683291C>A	ENSP00000008391:p.Leu168Met						p.L168M	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN			2	730	+	Lung NSC(77;0.0334)		168						Missense_Mutation	SNP	ENST00000008391.3	37	c.502C>A	CCDS4933.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.264746	0.80358	.	.	ENSG00000008197	ENST00000008391	D	0.97575	-4.44	5.06	5.06	0.68205	.	0.077563	0.53938	D	0.000054	D	0.94188	0.8135	N	0.08118	0	0.80722	D	1	D	0.58970	0.984	D	0.70487	0.969	D	0.94059	0.7325	10	0.34782	T	0.22	-22.8854	12.2055	0.54350	0.0:0.9214:0.0:0.0786	.	168	Q7Z6R9	AP2D_HUMAN	M	168	ENSP00000008391:L168M	ENSP00000008391:L168M	L	+	1	2	TFAP2D	50791250	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.835000	0.55805	2.509000	0.84616	0.655000	0.94253	CTG		0.632	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		31	139	1	0	2.61193e-14	1	3.49465e-14	31	139				
PIK3CA	5290	broad.mit.edu	37	3	178952086	178952086	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:178952086T>A	ENST00000263967.3	+	21	3298	c.3141T>A	c.(3139-3141)caT>caA	p.H1047Q	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|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)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047Q(3)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	ATGATGCACATCATGGTGGCT	0.373		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		3	Substitution - Missense(3)	p.H1047Q(3)	large_intestine(2)|endometrium(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(3139-3141)caT>caA		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							99.0	89.0	92.0					3																	178952086		1912	4131	6043	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952086T>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3141T>A	3.37:g.178952086T>A	ENSP00000263967:p.His1047Gln	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.H1047Q	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3298	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1047		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3141T>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	T	12.09	1.833188	0.32421	.	.	ENSG00000121879	ENST00000263967	T	0.80824	-1.42	6.08	-6.31	0.02001	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.63965	0.2556	N	0.16656	0.425	0.54753	D	0.999987	B	0.18461	0.028	B	0.13407	0.009	T	0.29671	-1.0004	10	0.59425	D	0.04	-21.2893	17.663	0.88197	0.0:0.5722:0.0:0.4278	.	1047	P42336	PK3CA_HUMAN	Q	1047	ENSP00000263967:H1047Q	ENSP00000263967:H1047Q	H	+	3	2	PIK3CA	180434780	0.811000	0.29063	0.934000	0.37439	0.998000	0.95712	-0.118000	0.10692	-0.903000	0.03881	0.482000	0.46254	CAT		0.373	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			60	80	0	0	0	1	0	60	80				
HDLBP	3069	broad.mit.edu	37	2	242169037	242169037	+	Silent	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:242169037G>A	ENST00000391975.1	-	28	4013	c.3786C>T	c.(3784-3786)ctC>ctT	p.L1262L	HDLBP_ENST00000310931.4_Silent_p.L1262L|HDLBP_ENST00000427183.2_Silent_p.L1229L|HDLBP_ENST00000391976.2_Silent_p.L1262L	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	1262					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)		GGCCCCAAGGGAGGGTCTTGG	0.552																																						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.(3784-3786)ctC>ctT		high density lipoprotein binding protein							102.0	105.0	104.0					2																	242169037		2202	4300	6502	SO:0001819	synonymous_variant	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242169037G>A		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.3786C>T	2.37:g.242169037G>A						HDLBP_ENST00000427183.2_Silent_p.L1229L|HDLBP_ENST00000391976.2_Silent_p.L1262L|HDLBP_ENST00000310931.4_Silent_p.L1262L	p.L1262L	NM_203346.3	NP_976221.1	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)	28	4013	-		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)	1262					B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Silent	SNP	ENST00000391975.1	37	c.3786C>T	CCDS2547.1	.	.	.	.	.	.	.	.	.	.	G	0.697	-0.792286	0.02884	.	.	ENSG00000115677	ENST00000373292	.	.	.	5.75	1.93	0.25924	.	.	.	.	.	T	0.54415	0.1857	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41716	-0.9493	4	.	.	.	-29.507	6.8762	0.24149	0.2084:0.3522:0.4394:0.0	.	.	.	.	S	967	.	.	P	-	1	0	HDLBP	241817710	0.999000	0.42202	0.996000	0.52242	0.087000	0.18053	0.653000	0.24902	0.074000	0.16767	0.563000	0.77884	CCC		0.552	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		5	41	0	0	0	1	0	5	41				
KRT72	140807	broad.mit.edu	37	12	52986737	52986737	+	Splice_Site	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:52986737C>A	ENST00000537672.2	-	3	652		c.e3-1		KRT72_ENST00000354310.4_Splice_Site|KRT72_ENST00000293745.2_Splice_Site|KRT72_ENST00000398066.3_Splice_Site	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72							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)		CACCTCATACCTGCATGGGGC	0.517																																						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.e3-1		keratin 72							138.0	114.0	123.0					12																	52986737		2203	4300	6503	SO:0001630	splice_region_variant	140807					keratin filament	structural molecule activity	g.chr12:52986737C>A	AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.642-1G>T	12.37:g.52986737C>A						KRT72_ENST00000354310.4_Splice_Site|KRT72_ENST00000537672.2_Splice_Site|KRT72_ENST00000398066.3_Splice_Site		NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.195)	3	727	-								B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Splice_Site	SNP	ENST00000537672.2	37		CCDS8833.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.077903	0.76528	.	.	ENSG00000170486	ENST00000537672;ENST00000293745;ENST00000354310;ENST00000398066	.	.	.	4.74	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6227	0.91327	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KRT72	51273004	1.000000	0.71417	0.988000	0.46212	0.917000	0.54804	7.212000	0.77941	2.573000	0.86826	0.561000	0.74099	.		0.517	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	NM_080747	Intron	21	51	1	0	2.4624e-09	1	2.99365e-09	21	51				
TYR	7299	broad.mit.edu	37	11	88924383	88924383	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:88924383G>C	ENST00000263321.5	+	2	1335	c.833G>C	c.(832-834)cGa>cCa	p.R278P	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	278					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	GTCTGTAGCCGATTGGAGGAG	0.463																																						ENST00000263321.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(832-834)cGa>cCa		tyrosinase	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)						121.0	110.0	114.0					11																	88924383		2201	4299	6500	SO:0001583	missense	7299				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:88924383G>C	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.833G>C	11.37:g.88924383G>C	ENSP00000263321:p.Arg278Pro					TYR_ENST00000526139.1_3'UTR	p.R278P	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN			2	1335	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	278					Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	37	c.833G>C	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.442450	0.83993	.	.	ENSG00000077498	ENST00000263321	D	0.97430	-4.38	5.59	-2.37	0.06643	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.562670	0.19717	N	0.107663	D	0.96122	0.8736	L	0.42581	1.335	0.21950	N	0.999454	D	0.57257	0.979	P	0.59357	0.856	D	0.92178	0.5749	9	.	.	.	.	12.7835	0.57491	0.5409:0.0:0.4591:0.0	.	278	P14679	TYRO_HUMAN	P	278	ENSP00000263321:R278P	.	R	+	2	0	TYR	88564031	0.000000	0.05858	0.004000	0.12327	0.914000	0.54420	-0.485000	0.06520	-0.214000	0.10078	-0.150000	0.13652	CGA		0.463	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		25	98	0	0	0	1	0	25	98				
OSR1	130497	broad.mit.edu	37	2	19553164	19553164	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:19553164C>A	ENST00000272223.2	-	2	747	c.403G>T	c.(403-405)Ggt>Tgt	p.G135C	OSR1_ENST00000536433.1_Missense_Mutation_p.G135C	NM_145260.2	NP_660303.1	Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	135					cell differentiation (GO:0030154)|cell proliferation involved in kidney development (GO:0072111)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|gonad development (GO:0008406)|heart development (GO:0007507)|intermediate mesoderm development (GO:0048389)|mesangial cell development (GO:0072143)|mesonephric duct morphogenesis (GO:0072180)|mesonephros development (GO:0001823)|metanephric cap mesenchymal cell proliferation involved in metanephros development (GO:0090094)|metanephric epithelium development (GO:0072207)|metanephric glomerulus vasculature development (GO:0072239)|metanephric interstitial fibroblast development (GO:0072259)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephric nephron tubule development (GO:0072234)|metanephric smooth muscle tissue development (GO:0072208)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of nephron tubule epithelial cell differentiation (GO:0072183)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|palate development (GO:0060021)|pattern specification involved in metanephros development (GO:0072268)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posterior mesonephric tubule development (GO:0072166)|pronephros development (GO:0048793)|renal vesicle progenitor cell differentiation (GO:0072184)|specification of anterior mesonephric tubule identity (GO:0072168)|specification of posterior mesonephric tubule identity (GO:0072169)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)|ureter urothelium development (GO:0072190)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				TCCCCGCGACCGAGCTTGGCC	0.642																																						ENST00000536433.1																			0				breast(1)|large_intestine(2)|lung(4)|ovary(1)	8						c.(403-405)Ggt>Tgt		odd-skipped related transciption factor 1							48.0	54.0	52.0					2																	19553164		2203	4300	6503	SO:0001583	missense	130497				chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding	g.chr2:19553164C>A	BC025712	CCDS1694.1	2p24.1	2013-10-17	2013-10-17	2004-11-26	ENSG00000143867	ENSG00000143867		"""Zinc fingers, C2H2-type"""	8111	protein-coding gene	gene with protein product		608891	"""odd-skipped (Drosophila) homolog"", ""odd-skipped related 1 (Drosophila)"""	ODD		2120051, 12119563	Standard	XM_006711942		Approved		uc002rdc.3	Q8TAX0	OTTHUMG00000088793	ENST00000272223.2:c.403G>T	2.37:g.19553164C>A	ENSP00000272223:p.Gly135Cys					OSR1_ENST00000272223.2_Missense_Mutation_p.G135C	p.G135C			Q8TAX0	OSR1_HUMAN			1	3513	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)	135					B3KV97|D6W521	Missense_Mutation	SNP	ENST00000272223.2	37	c.403G>T	CCDS1694.1	.	.	.	.	.	.	.	.	.	.	c	14.92	2.678703	0.47886	.	.	ENSG00000143867	ENST00000272223;ENST00000536433	T;T	0.07800	3.16;3.16	5.81	4.02	0.46733	.	0.200207	0.52532	N	0.000065	T	0.15176	0.0366	L	0.40543	1.245	0.29257	N	0.871602	D	0.71674	0.998	P	0.60236	0.871	T	0.01791	-1.1273	9	.	.	.	-2.1942	10.5096	0.44853	0.1352:0.7955:0.0:0.0693	.	135	Q8TAX0	OSR1_HUMAN	C	135	ENSP00000272223:G135C;ENSP00000441801:G135C	.	G	-	1	0	OSR1	19416645	1.000000	0.71417	0.998000	0.56505	0.371000	0.29859	1.601000	0.36773	1.492000	0.48499	-0.224000	0.12420	GGT		0.642	OSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000201432.2	NM_145260		25	100	1	0	9.57634e-11	1	1.208e-10	25	100				
SLC4A5	57835	broad.mit.edu	37	2	74454651	74454651	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:74454651A>C	ENST00000377634.4	-	27	3356	c.2957T>G	c.(2956-2958)cTg>cGg	p.L986R	SLC4A5_ENST00000483195.1_Intron|SLC4A5_ENST00000423644.1_Intron|SLC4A5_ENST00000358683.4_Intron|SLC4A5_ENST00000394019.2_Intron|SLC4A5_ENST00000357822.5_Missense_Mutation_p.L986R|SLC4A5_ENST00000377632.1_Intron|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000346834.4_Intron|SLC4A5_ENST00000359484.4_Intron					solute carrier family 4 (sodium bicarbonate cotransporter), member 5									p.L986fs*12(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CACTGGAGTCAGCTTCTTCTG	0.413																																						ENST00000377634.4																			1	Deletion - Frameshift(1)	p.L986fs*12(1)	breast(1)	breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(2956-2958)cTg>cGg		solute carrier family 4 (sodium bicarbonate cotransporter), member 5							91.0	90.0	90.0					2																	74454651		2203	4300	6503	SO:0001583	missense	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74454651A>C	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.2957T>G	2.37:g.74454651A>C	ENSP00000366861:p.Leu986Arg					SLC4A5_ENST00000359484.4_Intron|SLC4A5_ENST00000358683.4_Intron|SLC4A5_ENST00000357822.5_Missense_Mutation_p.L986R|SLC4A5_ENST00000346834.4_Intron|SLC4A5_ENST00000483195.1_Intron|SLC4A5_ENST00000423644.1_Intron|SLC4A5_ENST00000377632.1_Intron|SLC4A5_ENST00000394019.2_Intron|RP11-287D1.3_ENST00000451608.2_3'UTR	p.L986R			Q9BY07	S4A5_HUMAN			27	3356	-			986						Missense_Mutation	SNP	ENST00000377634.4	37	c.2957T>G	CCDS1936.1	.	.	.	.	.	.	.	.	.	.	A	1.111	-0.658198	0.03454	.	.	ENSG00000188687	ENST00000451608;ENST00000357822;ENST00000377634	T;T	0.80304	-1.36;-1.36	3.9	0.156	0.14910	Bicarbonate transporter, C-terminal (1);	16.445600	0.00166	N	0.000003	T	0.67239	0.2872	N	0.14661	0.345	0.09310	N	1	B	0.19935	0.04	B	0.27170	0.077	T	0.56486	-0.7971	10	0.72032	D	0.01	.	2.0694	0.03610	0.5774:0.1759:0.0945:0.1521	.	986	Q9BY07	S4A5_HUMAN	R	986	ENSP00000350475:L986R;ENSP00000366861:L986R	ENSP00000350475:L986R	L	-	2	0	SLC4A5	74308159	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	0.254000	0.18314	0.021000	0.15133	0.533000	0.62120	CTG		0.413	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			8	41	0	0	0	1	0	8	41				
ALPL	249	broad.mit.edu	37	1	21889728	21889728	+	Silent	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:21889728C>A	ENST00000374840.3	+	5	673	c.423C>A	c.(421-423)acC>acA	p.T141T	ALPL_ENST00000468526.1_3'UTR|ALPL_ENST00000374832.1_Silent_p.T141T|ALPL_ENST00000539907.1_Silent_p.T64T|ALPL_ENST00000540617.1_Silent_p.T86T|ALPL_ENST00000425315.2_Silent_p.T141T	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	141					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)	GGTGCAACACCACCCAGGGGA	0.682																																						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.(421-423)acC>acA		alkaline phosphatase, liver/bone/kidney	Amifostine(DB01143)						69.0	62.0	65.0					1																	21889728		2203	4300	6503	SO:0001819	synonymous_variant	249				response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr1:21889728C>A	BC021289	CCDS217.1, CCDS53274.1, CCDS53275.1	1p36.12	2008-02-05			ENSG00000162551	ENSG00000162551	3.1.3.1		438	protein-coding gene	gene with protein product		171760		HOPS		3532105, 3446011	Standard	NM_001127501		Approved	TNSALP	uc001bet.3	P05186	OTTHUMG00000002949	ENST00000374840.3:c.423C>A	1.37:g.21889728C>A						ALPL_ENST00000540617.1_Silent_p.T86T|ALPL_ENST00000539907.1_Silent_p.T64T|ALPL_ENST00000468526.1_3'UTR|ALPL_ENST00000425315.2_Silent_p.T141T|ALPL_ENST00000374832.1_Silent_p.T141T	p.T141T	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)	5	673	+		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)	141					A1A4E7|B2RMP8|B7Z387|B7Z4Y6|O75090|Q2TAI7|Q59EJ7|Q5BKZ5|Q5VTG5|Q6NZI8|Q8WU32|Q9UBK0	Silent	SNP	ENST00000374840.3	37	c.423C>A	CCDS217.1																																																																																				0.682	ALPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008202.1	NM_000478		19	57	1	0	1.56452e-12	1	2.02994e-12	19	57				
WDR90	197335	broad.mit.edu	37	16	703414	703414	+	Missense_Mutation	SNP	C	C	T	rs377339163		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr16:703414C>T	ENST00000293879.4	+	11	1196	c.1196C>T	c.(1195-1197)aCg>aTg	p.T399M	LA16c-349E10.1_ENST00000573609.1_RNA|WDR90_ENST00000549091.1_Missense_Mutation_p.T399M			Q96KV7	WDR90_HUMAN	WD repeat domain 90	399										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CTCGTGGACACGGGGGAGCAG	0.697																																						ENST00000549091.1																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37						c.(1195-1197)aCg>aTg		WD repeat domain 90		C	MET/THR	3,4159		0,3,2078	38.0	48.0	45.0		1196	3.8	0.0	16		45	0,8400		0,0,4200	no	missense	WDR90	NM_145294.4	81	0,3,6278	TT,TC,CC		0.0,0.0721,0.0239	probably-damaging	399/1749	703414	3,12559	2081	4200	6281	SO:0001583	missense	197335							g.chr16:703414C>T	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.1196C>T	16.37:g.703414C>T	ENSP00000293879:p.Thr399Met					WDR90_ENST00000293879.4_Missense_Mutation_p.T399M	p.T399M	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN			11	1288	+		Hepatocellular(780;0.0218)	399					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	c.1196C>T	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	C	19.87	3.907916	0.72868	7.21E-4	0.0	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.01347	4.99;4.99	4.8	3.82	0.43975	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.087857	0.46145	U	0.000312	T	0.11024	0.0269	M	0.91354	3.2	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.98;0.92;0.988	T	0.01218	-1.1415	10	0.66056	D	0.02	.	13.7858	0.63108	0.0:0.845:0.155:0.0	.	399;400;399	Q96KV7;C9JMK1;Q96KV7-3	WDR90_HUMAN;.;.	M	399	ENSP00000448122:T399M;ENSP00000293879:T399M	ENSP00000293879:T399M	T	+	2	0	WDR90	643415	0.429000	0.25530	0.008000	0.14137	0.027000	0.11550	4.517000	0.60503	0.965000	0.38133	0.561000	0.74099	ACG		0.697	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		31	54	0	0	0	1	0	31	54				
RNF145	153830	broad.mit.edu	37	5	158588497	158588497	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:158588497C>G	ENST00000424310.2	-	10	1762	c.1403G>C	c.(1402-1404)tGt>tCt	p.C468S	RNF145_ENST00000521606.2_Missense_Mutation_p.C485S|RNF145_ENST00000520638.1_Missense_Mutation_p.C482S|RNF145_ENST00000519865.1_Missense_Mutation_p.C468S|RNF145_ENST00000274542.2_Missense_Mutation_p.C496S|RNF145_ENST00000518802.1_Missense_Mutation_p.C498S|RNF145_ENST00000518284.1_5'UTR	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	468						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGCCACCACACAGAGGGCCAC	0.473																																						ENST00000424310.2																			0				endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1402-1404)tGt>tCt		ring finger protein 145							67.0	68.0	68.0					5																	158588497		2203	4300	6503	SO:0001583	missense	153830					integral to membrane	zinc ion binding	g.chr5:158588497C>G	BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"""RING-type (C3HC4) zinc fingers"""	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.1403G>C	5.37:g.158588497C>G	ENSP00000409064:p.Cys468Ser					RNF145_ENST00000519865.1_Missense_Mutation_p.C468S|RNF145_ENST00000518802.1_Missense_Mutation_p.C498S|RNF145_ENST00000520638.1_Missense_Mutation_p.C482S|RNF145_ENST00000518284.1_5'UTR|RNF145_ENST00000274542.2_Missense_Mutation_p.C496S|RNF145_ENST00000521606.2_Missense_Mutation_p.C485S	p.C468S	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		10	1762	-	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	468					B7Z903|B7Z949|E7EVI7|Q8IVP7	Missense_Mutation	SNP	ENST00000424310.2	37	c.1403G>C	CCDS56390.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987859	0.74589	.	.	ENSG00000145860	ENST00000274542;ENST00000519865;ENST00000424310;ENST00000521606;ENST00000413445;ENST00000518802;ENST00000535312;ENST00000520638	T;T;T;T;T;T;T	0.76709	-1.04;-1.02;-1.02;-1.03;-1.03;-1.04;-1.03	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.78310	0.4263	L	0.54323	1.7	0.80722	D	1	P;P;P;P;P	0.40578	0.677;0.677;0.677;0.722;0.627	B;B;B;B;B	0.43052	0.326;0.241;0.326;0.406;0.219	T	0.74951	-0.3489	10	0.27785	T	0.31	-18.7059	19.7731	0.96379	0.0:1.0:0.0:0.0	.	485;482;498;468;496	B7Z949;B7Z903;E7EVI7;Q96MT1;Q96MT1-2	.;.;.;RN145_HUMAN;.	S	496;468;468;484;485;498;468;482	ENSP00000274542:C496S;ENSP00000430397:C468S;ENSP00000409064:C468S;ENSP00000430753:C484S;ENSP00000445115:C485S;ENSP00000430955:C498S;ENSP00000429071:C482S	ENSP00000274542:C496S	C	-	2	0	RNF145	158521075	1.000000	0.71417	0.937000	0.37676	0.895000	0.52256	7.711000	0.84669	2.680000	0.91292	0.650000	0.86243	TGT		0.473	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726		17	74	0	0	0	1	0	17	74				
TAF1L	138474	broad.mit.edu	37	9	32634231	32634231	+	Silent	SNP	A	A	T	rs55679392		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:32634231A>T	ENST00000242310.4	-	1	1436	c.1347T>A	c.(1345-1347)ggT>ggA	p.G449G	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	449					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCAGGCTTGCACCCTGAGGTT	0.473																																						ENST00000242310.4																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(1345-1347)ggT>ggA		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							202.0	187.0	192.0					9																	32634231		2203	4300	6503	SO:0001819	synonymous_variant	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32634231A>T	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.1347T>A	9.37:g.32634231A>T						RP11-555J4.4_ENST00000430787.1_RNA	p.G449G	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	1436	-			449					Q0VG57	Silent	SNP	ENST00000242310.4	37	c.1347T>A	CCDS35003.1																																																																																				0.473	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			81	158	0	0	0	1	0	81	158				
ACBD3	64746	broad.mit.edu	37	1	226349347	226349347	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:226349347C>G	ENST00000366812.5	-	4	667	c.613G>C	c.(613-615)Gaa>Caa	p.E205Q	ACBD3_ENST00000464927.1_5'Flank	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	205	Arg-rich.|Glu-rich.				steroid biosynthetic process (GO:0006694)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		tgcagacgttctctttcttcc	0.458																																						ENST00000366812.5																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20						c.(613-615)Gaa>Caa		acyl-CoA binding domain containing 3							101.0	79.0	86.0					1																	226349347		2202	4299	6501	SO:0001583	missense	64746				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding	g.chr1:226349347C>G	AB043587	CCDS1551.1	1q41	2013-10-16	2010-04-30	2003-11-12	ENSG00000182827	ENSG00000182827		"""A-kinase anchor proteins"""	15453	protein-coding gene	gene with protein product	"""PBR- and PKA-associated protein 7"""	606809	"""golgi complex associated protein 1, 60kDa"", ""acyl-Coenzyme A binding domain containing 3"""	GOLPH1, GOCAP1		12692076, 20150326	Standard	NM_022735		Approved	GCP60, PAP7	uc001hpy.3	Q9H3P7	OTTHUMG00000037560	ENST00000366812.5:c.613G>C	1.37:g.226349347C>G	ENSP00000355777:p.Glu205Gln						p.E205Q	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN		GBM - Glioblastoma multiforme(131;0.121)	4	667	-	Breast(184;0.158)		205			Arg-rich.|Glu-rich.		B2RB29|Q5VTJ0|Q6P9F1|Q8IZC5|Q8N4D6|Q9H6U3	Missense_Mutation	SNP	ENST00000366812.5	37	c.613G>C	CCDS1551.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.125118	0.56721	.	.	ENSG00000182827	ENST00000366812	T	0.12569	2.67	4.84	4.84	0.62591	.	0.431567	0.24681	N	0.036467	T	0.11324	0.0276	L	0.36672	1.1	0.43107	D	0.994806	P	0.41673	0.759	B	0.34722	0.188	T	0.06570	-1.0819	10	0.45353	T	0.12	-6.6843	14.1547	0.65410	0.0:1.0:0.0:0.0	.	205	Q9H3P7	GCP60_HUMAN	Q	205	ENSP00000355777:E205Q	ENSP00000355777:E205Q	E	-	1	0	ACBD3	224415970	1.000000	0.71417	0.995000	0.50966	0.975000	0.68041	3.815000	0.55651	2.602000	0.87976	0.563000	0.77884	GAA		0.458	ACBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091528.1	NM_022735		28	36	0	0	0	1	0	28	36				
DNAH10	196385	broad.mit.edu	37	12	124418025	124418025	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:124418025G>C	ENST00000409039.3	+	76	13115	c.13090G>C	c.(13090-13092)Gat>Cat	p.D4364H	RP11-380L11.3_ENST00000602292.1_RNA|DNAH10OS_ENST00000514254.2_Intron|CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4364					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAAGTTCCAGGATGCAGATGA	0.587																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(13090-13092)Gat>Cat		dynein, axonemal, heavy chain 10							59.0	60.0	60.0					12																	124418025		2000	4158	6158	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124418025G>C	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.13090G>C	12.37:g.124418025G>C	ENSP00000386770:p.Asp4364His					DNAH10OS_ENST00000514254.2_Intron|CCDC92_ENST00000544798.1_Intron	p.D4364H	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	76	13115	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		4364					C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.13090G>C	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	12.37	1.916801	0.33815	.	.	ENSG00000197653	ENST00000409039	T	0.08720	3.06	5.18	5.18	0.71444	Dynein heavy chain (1);	0.318966	0.32987	N	0.005415	T	0.10035	0.0246	L	0.60012	1.86	0.20638	N	0.999877	B	0.27140	0.169	B	0.31191	0.125	T	0.16571	-1.0398	10	0.40728	T	0.16	.	7.1152	0.25412	0.2155:0.0:0.7845:0.0	.	4364	Q8IVF4	DYH10_HUMAN	H	4364	ENSP00000386770:D4364H	ENSP00000386770:D4364H	D	+	1	0	DNAH10	122983978	0.880000	0.30214	0.652000	0.29579	0.828000	0.46876	4.405000	0.59741	2.413000	0.81919	0.561000	0.74099	GAT		0.587	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			12	92	0	0	0	1	0	12	92				
CSMD3	114788	broad.mit.edu	37	8	113326250	113326250	+	Silent	SNP	G	G	T	rs556577832		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:113326250G>T	ENST00000297405.5	-	49	7825	c.7581C>A	c.(7579-7581)tcC>tcA	p.S2527S	CSMD3_ENST00000343508.3_Silent_p.S2487S|CSMD3_ENST00000352409.3_Silent_p.S2457S|CSMD3_ENST00000455883.2_Silent_p.S2423S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2527	CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCCCACTGAGGGAAATAAGCA	0.318										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			G|||	1	0.000199681	0.0	0.0	5008	,	,		15767	0.001		0.0	False		,,,				2504	0.0					ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(7579-7581)tcC>tcA		CUB and Sushi multiple domains 3							71.0	73.0	72.0					8																	113326250		2203	4299	6502	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113326250G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7581C>A	8.37:g.113326250G>T		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Silent_p.S2457S|CSMD3_ENST00000343508.3_Silent_p.S2487S|CSMD3_ENST00000455883.2_Silent_p.S2423S	p.S2527S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			49	7825	-			2527			CUB 14.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.7581C>A	CCDS6315.1																																																																																				0.318	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		30	118	1	0	2.65835e-16	1	3.65168e-16	30	118				
CHD6	84181	broad.mit.edu	37	20	40076562	40076562	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr20:40076562C>A	ENST00000373233.3	-	24	3910	c.3733G>T	c.(3733-3735)Gga>Tga	p.G1245*	CHD6_ENST00000309279.7_Nonsense_Mutation_p.G728*	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1245					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GCTGCTTCTCCCAGTATTTCA	0.373																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(3733-3735)Gga>Tga		chromodomain helicase DNA binding protein 6							143.0	136.0	138.0					20																	40076562		2203	4300	6503	SO:0001587	stop_gained	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40076562C>A	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.3733G>T	20.37:g.40076562C>A	ENSP00000362330:p.Gly1245*					CHD6_ENST00000309279.7_Nonsense_Mutation_p.G728*	p.G1245*	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			24	3910	-		Myeloproliferative disorder(115;0.00425)	1245					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Nonsense_Mutation	SNP	ENST00000373233.3	37	c.3733G>T	CCDS13317.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	45|45	11.375977|11.375977	0.99553|0.99553	.|.	.|.	ENSG00000124177|ENSG00000124177	ENST00000373233;ENST00000309279|ENST00000440697	.|.	.|.	.|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	0.000000|.	0.52532|.	D|.	0.000062|.	.|T	.|0.76241	.|0.3960	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73997	.|-0.3806	.|3	0.87932|.	D|.	0|.	-16.3998|-16.3998	19.122|19.122	0.93367|0.93367	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|C	1245;728|430	.|.	ENSP00000308684:G728X|.	G|W	-|-	1|3	0|0	CHD6|CHD6	39509976|39509976	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.776000|7.776000	0.85560|0.85560	2.770000|2.770000	0.95276|0.95276	0.655000|0.655000	0.94253|0.94253	GGA|TGG		0.373	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			25	129	1	0	2.12542e-12	1	2.74844e-12	25	129				
PDGFRA	5156	broad.mit.edu	37	4	55156535	55156535	+	Missense_Mutation	SNP	G	G	A	rs587778598		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:55156535G>A	ENST00000257290.5	+	22	3267	c.2936G>A	c.(2935-2937)cGc>cAc	p.R979H	FIP1L1_ENST00000507166.1_Missense_Mutation_p.R739H	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	979					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)	GCTGTGGCACGCATGCGTGTG	0.438			"""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	"""Mis, O, T"""	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""		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.(2935-2937)cGc>cAc		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						138.0	122.0	127.0					4																	55156535		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	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.chr4:55156535G>A	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.2936G>A	4.37:g.55156535G>A	ENSP00000257290:p.Arg979His	TSP Lung(21;0.16)				FIP1L1_ENST00000507166.1_Missense_Mutation_p.R739H	p.R979H	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)		22	3267	+	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)		979					B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.2936G>A	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.796320	0.90453	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	T;T	0.78924	-1.22;-1.06	5.77	5.77	0.91146	.	0.000000	0.32671	U	0.005797	D	0.88179	0.6367	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87596	0.2494	10	0.54805	T	0.06	.	19.9922	0.97370	0.0:0.0:1.0:0.0	.	979	P16234	PGFRA_HUMAN	H	739;979	ENSP00000423325:R739H;ENSP00000257290:R979H	ENSP00000423325:R739H	R	+	2	0	FIP1L1;PDGFRA	54851292	1.000000	0.71417	0.997000	0.53966	0.533000	0.34776	9.363000	0.97131	2.740000	0.93945	0.557000	0.71058	CGC		0.438	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		26	94	0	0	0	1	0	26	94				
ASTL	431705	broad.mit.edu	37	2	96799254	96799254	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:96799254T>C	ENST00000342380.2	-	5	364	c.365A>G	c.(364-366)gAg>gGg	p.E122G		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CGCAAGAGCCTCCAGGATGAC	0.572																																						ENST00000342380.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						c.(364-366)gAg>gGg		astacin-like metallo-endopeptidase (M12 family)							81.0	73.0	76.0					2																	96799254		2203	4300	6503	SO:0001583	missense	431705				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr2:96799254T>C	AJ537600	CCDS33249.1	2q11.1	2014-07-23	2006-10-10		ENSG00000188886	ENSG00000188886	3.4.24.21		31704	protein-coding gene	gene with protein product	"""sperm acrosomal SLLP1 binding"""	608860	"""astacin-like metalloendopeptidase (M12 family)"""			15087446	Standard	NM_001002036		Approved	ovastacin, SAS1B	uc010yui.2	Q6HA08	OTTHUMG00000155212	ENST00000342380.2:c.365A>G	2.37:g.96799254T>C	ENSP00000343674:p.Glu122Gly						p.E122G	NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN			5	364	-			122						Missense_Mutation	SNP	ENST00000342380.2	37	c.365A>G	CCDS33249.1	.	.	.	.	.	.	.	.	.	.	T	13.61	2.288575	0.40494	.	.	ENSG00000188886	ENST00000342380	T	0.63913	-0.07	5.29	5.29	0.74685	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (2);Metallopeptidase, catalytic domain (1);	0.679913	0.12538	N	0.460176	T	0.48390	0.1497	N	0.21324	0.655	0.33056	D	0.533431	P	0.37914	0.611	B	0.36959	0.237	T	0.56080	-0.8038	10	0.27082	T	0.32	-3.2797	11.6828	0.51468	0.0:0.0:0.0:1.0	.	122	Q6HA08	ASTL_HUMAN	G	122	ENSP00000343674:E122G	ENSP00000343674:E122G	E	-	2	0	ASTL	96162981	1.000000	0.71417	0.971000	0.41717	0.424000	0.31475	2.082000	0.41605	2.027000	0.59764	0.524000	0.50904	GAG		0.572	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338801.1			11	61	0	0	0	1	0	11	61				
EGFLAM	133584	broad.mit.edu	37	5	38370502	38370502	+	Missense_Mutation	SNP	G	G	T	rs373103857		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:38370502G>T	ENST00000354891.3	+	6	996	c.650G>T	c.(649-651)aGg>aTg	p.R217M	EGFLAM_ENST00000322350.5_Missense_Mutation_p.R217M	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	217	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TTTGCCGTGAGGGCAATGAAT	0.567																																					Colon(62;485 1295 3347 17454)	ENST00000322350.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85						c.(649-651)aGg>aTg		EGF-like, fibronectin type III and laminin G domains							68.0	63.0	65.0					5																	38370502		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38370502G>T	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.650G>T	5.37:g.38370502G>T	ENSP00000346964:p.Arg217Met					EGFLAM_ENST00000354891.3_Missense_Mutation_p.R217M	p.R217M	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN			6	996	+	all_lung(31;0.000385)		217			Fibronectin type-III 2.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.650G>T	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.983675	0.74474	.	.	ENSG00000164318	ENST00000354891;ENST00000322350	T;T	0.58940	0.3;0.3	5.82	2.9	0.33743	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.092689	0.64402	D	0.000001	T	0.68137	0.2968	M	0.71036	2.16	0.80722	D	1	D;D	0.67145	0.996;0.995	D;P	0.63703	0.917;0.865	T	0.70200	-0.4937	10	0.87932	D	0	-4.5323	7.6685	0.28445	0.2028:0.1226:0.6747:0.0	.	217;217	Q63HQ2;Q63HQ2-2	EGFLA_HUMAN;.	M	217	ENSP00000346964:R217M;ENSP00000313084:R217M	ENSP00000313084:R217M	R	+	2	0	EGFLAM	38406259	1.000000	0.71417	0.977000	0.42913	0.994000	0.84299	3.285000	0.51716	1.437000	0.47472	0.561000	0.74099	AGG		0.567	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		8	50	1	0	0.000157383	1	0.00016875	8	50				
MSH4	4438	broad.mit.edu	37	1	76363684	76363684	+	Silent	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:76363684T>C	ENST00000263187.3	+	18	2552	c.2448T>C	c.(2446-2448)caT>caC	p.H816H		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	816					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						AAGTTCAACATGTAAAGAATA	0.333								Mismatch excision repair (MMR)																														ENST00000263187.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						c.(2446-2448)caT>caC	Mismatch excision repair (MMR)	mutS homolog 4							102.0	100.0	100.0					1																	76363684		2203	4296	6499	SO:0001819	synonymous_variant	4438				chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr1:76363684T>C	U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.2448T>C	1.37:g.76363684T>C							p.H816H	NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN			18	2552	+			816					Q5T4U6|Q8NEB3|Q9UNP8	Silent	SNP	ENST00000263187.3	37	c.2448T>C	CCDS670.1																																																																																				0.333	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440		36	112	0	0	0	1	0	36	112				
KCNK4	50801	broad.mit.edu	37	11	64067113	64067113	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:64067113G>C	ENST00000539216.1	+	6	1457	c.1097G>C	c.(1096-1098)aGa>aCa	p.R366T	TEX40_ENST00000539943.1_5'Flank|KCNK4_ENST00000422670.2_Missense_Mutation_p.R366T|KCNK4_ENST00000394525.2_Missense_Mutation_p.R366T|RP11-783K16.10_ENST00000539086.1_RNA|KCNK4_ENST00000538767.1_Missense_Mutation_p.E250D|TEX40_ENST00000328404.6_5'Flank			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	366					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						CGCGCGCCGAGAGGTCGCCGC	0.731																																						ENST00000539216.1																			0				breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						c.(1096-1098)aGa>aCa		potassium channel, subfamily K, member 4							13.0	17.0	16.0					11																	64067113		2139	4156	6295	SO:0001583	missense	50801					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr11:64067113G>C	AF247042	CCDS8067.1	11q13	2012-03-07			ENSG00000182450	ENSG00000182450		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6279	protein-coding gene	gene with protein product		605720				10767409, 16382106	Standard	NM_033310		Approved	K2p4.1, TRAAK	uc001nzk.1	Q9NYG8	OTTHUMG00000168006	ENST00000539216.1:c.1097G>C	11.37:g.64067113G>C	ENSP00000444948:p.Arg366Thr					KCNK4_ENST00000394525.2_Missense_Mutation_p.R366T|KCNK4_ENST00000422670.2_Missense_Mutation_p.R366T|RP11-783K16.10_ENST00000539086.1_RNA|KCNK4_ENST00000538767.1_Missense_Mutation_p.E250D	p.R366T			Q9NYG8	KCNK4_HUMAN			6	1457	+			366					B5TJL1|Q96T94	Missense_Mutation	SNP	ENST00000539216.1	37	c.1097G>C	CCDS8067.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.500|6.500	0.460361|0.460361	0.12342|0.12342	.|.	.|.	ENSG00000182450|ENSG00000182450	ENST00000538767|ENST00000422670;ENST00000539852;ENST00000394525;ENST00000544845;ENST00000539216	.|T;T;T	.|0.25085	.|1.82;1.82;1.82	4.51|4.51	2.46|2.46	0.29980|0.29980	.|.	.|0.833925	.|0.09991	.|N	.|0.729745	T|T	0.17323|0.17323	0.0416|0.0416	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B|B;B	0.06786|0.25609	0.001|0.13;0.01	B|B;B	0.11329|0.29353	0.006|0.101;0.026	T|T	0.27020|0.27020	-1.0086|-1.0086	8|10	0.87932|0.39692	D|T	0|0.17	.|.	7.9513|7.9513	0.30017|0.30017	0.0:0.1739:0.6474:0.1787|0.0:0.1739:0.6474:0.1787	.|.	250|392;366	F5GYE0|Q9NYG8-2;Q9NYG8	.|.;KCNK4_HUMAN	D|T	250|366;391;366;428;366	.|ENSP00000402797:R366T;ENSP00000378033:R366T;ENSP00000444948:R366T	ENSP00000446454:E250D|ENSP00000378033:R366T	E|R	+|+	3|2	2|0	KCNK4|KCNK4	63823689|63823689	0.916000|0.916000	0.31088|0.31088	0.082000|0.082000	0.20525|0.20525	0.152000|0.152000	0.21847|0.21847	2.371000|2.371000	0.44248|0.44248	1.021000|1.021000	0.39600|0.39600	-0.304000|-0.304000	0.09214|0.09214	GAG|AGA		0.731	KCNK4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396430.1	NM_033311		8	31	0	0	0	1	0	8	31				
FMN2	56776	broad.mit.edu	37	1	240256804	240256804	+	Silent	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:240256804G>T	ENST00000319653.9	+	1	1625	c.1395G>T	c.(1393-1395)ccG>ccT	p.P465P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	465					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TAGCCGCCCCGGCCAAGAAGC	0.731																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(1393-1395)ccG>ccT		formin 2							14.0	19.0	18.0					1																	240256804		2156	4202	6358	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240256804G>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1395G>T	1.37:g.240256804G>T							p.P465P	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		1	1625	+	Ovarian(103;0.127)	all_cancers(173;0.013)	465					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.1395G>T	CCDS31069.2																																																																																				0.731	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		5	52	1	0	0.00116845	1	0.00121897	5	52				
NDST4	64579	broad.mit.edu	37	4	115858513	115858513	+	Silent	SNP	A	A	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:115858513A>T	ENST00000264363.2	-	5	2046	c.1368T>A	c.(1366-1368)ccT>ccA	p.P456P		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	456	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TGTACCGGGCAGGTTTCAGAT	0.453																																						ENST00000264363.2																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(1366-1368)ccT>ccA		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4							185.0	174.0	178.0					4																	115858513		2203	4300	6503	SO:0001819	synonymous_variant	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115858513A>T	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1368T>A	4.37:g.115858513A>T							p.P456P	NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	5	2046	-		Ovarian(17;0.156)	456			Heparan sulfate N-deacetylase 4.		Q2KHM8	Silent	SNP	ENST00000264363.2	37	c.1368T>A	CCDS3706.1																																																																																				0.453	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		17	69	0	0	0	1	0	17	69				
SMC4	10051	broad.mit.edu	37	3	160120629	160120629	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:160120629G>T	ENST00000357388.3	+	4	935	c.484G>T	c.(484-486)Gtt>Ttt	p.V162F	RP11-432B6.3_ENST00000483754.1_Intron|MIR15B_ENST00000385045.1_RNA|SMC4_ENST00000470240.1_3'UTR|SMC4_ENST00000462787.1_Missense_Mutation_p.V162F|MIR16-2_ENST00000362117.1_RNA|SMC4_ENST00000469762.1_Missense_Mutation_p.V137F|SMC4_ENST00000344722.5_Missense_Mutation_p.V162F|SMC4_ENST00000360111.2_Missense_Mutation_p.V162F	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	162					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TACAGTAGAAGTTCATTTTCA	0.289																																						ENST00000357388.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(484-486)Gtt>Ttt		structural maintenance of chromosomes 4							82.0	88.0	86.0					3																	160120629		2203	4298	6501	SO:0001583	missense	10051				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	g.chr3:160120629G>T	AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.484G>T	3.37:g.160120629G>T	ENSP00000349961:p.Val162Phe					SMC4_ENST00000469762.1_Missense_Mutation_p.V137F|SMC4_ENST00000462787.1_Missense_Mutation_p.V162F|SMC4_ENST00000344722.5_Missense_Mutation_p.V162F|SMC4_ENST00000470240.1_3'UTR|SMC4_ENST00000360111.2_Missense_Mutation_p.V162F|RP11-432B6.3_ENST00000483754.1_Intron	p.V162F	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		4	935	+			162					A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	ENST00000357388.3	37	c.484G>T	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	G	31	5.072656	0.93950	.	.	ENSG00000113810	ENST00000497311;ENST00000357388;ENST00000465903;ENST00000485645;ENST00000360111;ENST00000392788;ENST00000472991;ENST00000467468;ENST00000469762;ENST00000489573;ENST00000462787;ENST00000490207;ENST00000485867;ENST00000344722	T;T;T;T;T;T;T;T;T;T;T;T;T	0.69435	3.24;-0.4;3.24;3.24;-0.4;3.24;3.24;-0.4;3.24;-0.4;3.24;3.24;-0.4	5.37	5.37	0.77165	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.87485	0.6189	H	0.94462	3.54	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.989;0.999;0.997	D	0.90848	0.4729	10	0.87932	D	0	-20.918	19.0918	0.93229	0.0:0.0:1.0:0.0	.	162;137;162	Q9NTJ3-2;E9PD53;Q9NTJ3	.;.;SMC4_HUMAN	F	162;162;162;162;162;162;37;37;137;162;162;162;90;162	ENSP00000418820:V162F;ENSP00000349961:V162F;ENSP00000419247:V162F;ENSP00000420644:V162F;ENSP00000353225:V162F;ENSP00000417999:V37F;ENSP00000419360:V37F;ENSP00000417964:V137F;ENSP00000420121:V162F;ENSP00000420734:V162F;ENSP00000420817:V162F;ENSP00000417612:V90F;ENSP00000341382:V162F	ENSP00000341382:V162F	V	+	1	0	SMC4	161603323	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.779000	0.75057	2.506000	0.84524	0.591000	0.81541	GTT		0.289	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1			22	113	1	0	1.55795e-14	1	2.08808e-14	22	113				
SEMA3D	223117	broad.mit.edu	37	7	84649575	84649575	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:84649575C>A	ENST00000284136.6	-	12	1520	c.1477G>T	c.(1477-1479)Gtg>Ttg	p.V493L	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	493	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TCCTCCAGCACTACCTCTTCC	0.418																																					Ovarian(63;442 1191 17318 29975 31528)	ENST00000284136.6																			0				NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						c.(1477-1479)Gtg>Ttg		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D							109.0	91.0	97.0					7																	84649575		2203	4300	6503	SO:0001583	missense	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84649575C>A	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.1477G>T	7.37:g.84649575C>A	ENSP00000284136:p.Val493Leu					SEMA3D_ENST00000484038.1_5'UTR	p.V493L	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN			12	1520	-			493			Sema.		A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	c.1477G>T	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	C	5.744	0.321719	0.10845	.	.	ENSG00000153993	ENST00000284136	T	0.10668	2.85	5.44	5.44	0.79542	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.177653	0.49916	D	0.000127	T	0.04907	0.0132	N	0.03154	-0.405	0.80722	D	1	B	0.13145	0.007	B	0.12156	0.007	T	0.30504	-0.9976	10	0.06757	T	0.87	.	15.1504	0.72692	0.0:0.8592:0.1408:0.0	.	493	O95025	SEM3D_HUMAN	L	493	ENSP00000284136:V493L	ENSP00000284136:V493L	V	-	1	0	SEMA3D	84487511	0.970000	0.33590	0.257000	0.24404	0.946000	0.59487	2.393000	0.44442	2.683000	0.91414	0.655000	0.94253	GTG		0.418	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		14	52	1	0	3.45872e-05	1	3.81993e-05	14	52				
LRRC4C	57689	broad.mit.edu	37	11	40137179	40137179	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:40137179C>A	ENST00000278198.2	-	2	2627	c.664G>T	c.(664-666)Gat>Tat	p.D222Y	LRRC4C_ENST00000528697.1_Missense_Mutation_p.D222Y|LRRC4C_ENST00000530763.1_Missense_Mutation_p.D222Y|LRRC4C_ENST00000527150.1_Missense_Mutation_p.D222Y			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	222					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)		p.D222Y(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TCCAGCTCATCTAGTTTTATG	0.468																																						ENST00000278198.2																			1	Substitution - Missense(1)	p.D222Y(1)	lung(1)	NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86						c.(664-666)Gat>Tat		leucine rich repeat containing 4C							83.0	82.0	82.0					11																	40137179		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40137179C>A	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.664G>T	11.37:g.40137179C>A	ENSP00000278198:p.Asp222Tyr					LRRC4C_ENST00000530763.1_Missense_Mutation_p.D222Y|LRRC4C_ENST00000527150.1_Missense_Mutation_p.D222Y|LRRC4C_ENST00000528697.1_Missense_Mutation_p.D222Y	p.D222Y			Q9HCJ2	LRC4C_HUMAN			2	2627	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	222					A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.664G>T	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287319	0.59867	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.04360	3.64;3.64;3.64;3.64	5.44	5.44	0.79542	.	0.049235	0.85682	D	0.000000	T	0.09555	0.0235	N	0.16266	0.395	0.80722	D	1	D	0.69078	0.997	P	0.57425	0.82	T	0.19418	-1.0306	10	0.87932	D	0	.	18.2645	0.90048	0.0:1.0:0.0:0.0	.	222	Q9HCJ2	LRC4C_HUMAN	Y	222	ENSP00000278198:D222Y;ENSP00000436976:D222Y;ENSP00000437132:D222Y;ENSP00000434761:D222Y	ENSP00000278198:D222Y	D	-	1	0	LRRC4C	40093755	1.000000	0.71417	0.993000	0.49108	0.925000	0.55904	7.818000	0.86416	2.561000	0.86390	0.650000	0.86243	GAT		0.468	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		27	107	1	0	9.86323e-18	1	1.38949e-17	27	107				
PRKDC	5591	broad.mit.edu	37	8	48761984	48761984	+	Silent	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:48761984C>T	ENST00000314191.2	-	54	7139	c.7083G>A	c.(7081-7083)gtG>gtA	p.V2361V	PRKDC_ENST00000338368.3_Silent_p.V2361V|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2362					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)	TGTTCAAGCACACAATAAACT	0.473								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				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						c.(7081-7083)gtG>gtA	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							174.0	164.0	168.0					8																	48761984		1907	4132	6039	SO:0001819	synonymous_variant	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48761984C>T		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.7083G>A	8.37:g.48761984C>T						PRKDC_ENST00000338368.3_Silent_p.V2361V|PRKDC_ENST00000523565.1_5'UTR	p.V2361V	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			54	7139	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2362					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	ENST00000314191.2	37	c.7083G>A																																																																																					0.473	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		34	156	0	0	0	1	0	34	156				
U2SURP	23350	broad.mit.edu	37	3	142740367	142740367	+	Silent	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:142740367T>C	ENST00000473835.2	+	10	912	c.822T>C	c.(820-822)acT>acC	p.T274T	U2SURP_ENST00000397933.2_5'UTR|U2SURP_ENST00000493598.2_Silent_p.T273T	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	274	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						CAAGCACTACTAATTTATACC	0.328																																						ENST00000473835.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						c.(820-822)acT>acC		U2 snRNP-associated SURP domain containing							72.0	66.0	68.0					3																	142740367		1828	4085	5913	SO:0001819	synonymous_variant	23350				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr3:142740367T>C	BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"""RNA binding motif (RRM) containing"""	30855	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein a"", ""Ser/Arg-rich domain protein, 140 kDa"", ""U2 associated SR140 protein"""					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.822T>C	3.37:g.142740367T>C						U2SURP_ENST00000493598.2_Silent_p.T273T|U2SURP_ENST00000397933.2_5'UTR	p.T274T	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN			10	912	+			274			RRM.		A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Silent	SNP	ENST00000473835.2	37	c.822T>C	CCDS46928.1																																																																																				0.328	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354603.2	NM_001080415		7	49	0	0	0	1	0	7	49				
PCDHB18	54660	broad.mit.edu	37	5	140615771	140615771	+	RNA	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:140615771G>A	ENST00000526308.1	+	0	1834					NR_001281.1		Q96TA0	PCDBI_HUMAN	protocadherin beta 18 pseudogene						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V496L(1)		endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						GCTGGTGCGCGTGCTGGTGCT	0.701																																						ENST00000526308.1																			1	Substitution - Missense(1)	p.V496L(1)	lung(1)	endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18																																														54660							g.chr5:140615771G>A	AF152528		5q31.3	2014-03-20			ENSG00000146001	ENSG00000146001		"""Cadherins / Protocadherins : Clustered"""	14548	pseudogene	pseudogene						10380929	Standard	NR_001281		Approved	PCDH-psi2	uc003ljc.1	Q96TA0	OTTHUMG00000167484		5.37:g.140615771G>A								NR_001281.1						0	1834	+								B3KTF8	RNA	SNP	ENST00000526308.1	37																																																																																						0.701	PCDHB18-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000394776.1			22	123	0	0	0	1	0	22	123				
SH3TC2	79628	broad.mit.edu	37	5	148386556	148386556	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:148386556C>A	ENST00000515425.1	-	16	3664	c.3563G>T	c.(3562-3564)tGc>tTc	p.C1188F	SH3TC2_ENST00000502274.1_Missense_Mutation_p.C50F|SH3TC2_ENST00000538184.1_3'UTR|SH3TC2_ENST00000512049.1_Missense_Mutation_p.C1181F	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1188					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCAGGTAGCAGTCCTCAGC	0.547																																						ENST00000515425.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39						c.(3562-3564)tGc>tTc		SH3 domain and tetratricopeptide repeats 2							137.0	131.0	133.0					5																	148386556		2203	4300	6503	SO:0001583	missense	79628						binding	g.chr5:148386556C>A	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.3563G>T	5.37:g.148386556C>A	ENSP00000423660:p.Cys1188Phe					SH3TC2_ENST00000538184.1_3'UTR|SH3TC2_ENST00000502274.1_Missense_Mutation_p.C50F|SH3TC2_ENST00000512049.1_Missense_Mutation_p.C1181F	p.C1188F	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		16	3664	-			1188					B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	c.3563G>T	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.754023	0.31046	.	.	ENSG00000169247	ENST00000502274;ENST00000515425;ENST00000512049	T;T;T	0.76578	-1.03;-0.14;-0.14	6.17	6.17	0.99709	Tetratricopeptide-like helical (1);	0.052923	0.85682	D	0.000000	T	0.77592	0.4153	N	0.13098	0.295	0.80722	D	1	D;D;D	0.65815	0.995;0.995;0.995	D;D;D	0.66351	0.937;0.943;0.937	T	0.69506	-0.5127	10	0.07644	T	0.81	-17.1029	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1181;1188;1188	Q14CC0;E9PDF1;Q8TF17	.;.;S3TC2_HUMAN	F	50;1188;1181	ENSP00000421092:C50F;ENSP00000423660:C1188F;ENSP00000421860:C1181F	ENSP00000421092:C50F	C	-	2	0	SH3TC2	148366749	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.329000	0.65892	2.941000	0.99782	0.655000	0.94253	TGC		0.547	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		23	74	1	0	8.04996e-18	1	1.13612e-17	23	74				
BAI1	575	broad.mit.edu	37	8	143566046	143566046	+	Silent	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:143566046G>T	ENST00000517894.1	+	13	3123	c.2229G>T	c.(2227-2229)cgG>cgT	p.R743R	BAI1_ENST00000323289.5_Silent_p.R743R			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	743					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					AGCTGTTCCGGCTGGTGGAGG	0.657																																						ENST00000517894.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57						c.(2227-2229)cgG>cgT		brain-specific angiogenesis inhibitor 1							29.0	38.0	35.0					8																	143566046		2064	4189	6253	SO:0001819	synonymous_variant	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143566046G>T	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.2229G>T	8.37:g.143566046G>T						BAI1_ENST00000323289.5_Silent_p.R743R	p.R743R			O14514	BAI1_HUMAN			13	3123	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		743						Silent	SNP	ENST00000517894.1	37	c.2229G>T																																																																																					0.657	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		9	15	1	0	0.000442599	1	0.000465513	9	15				
LGR6	59352	broad.mit.edu	37	1	202287103	202287103	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:202287103C>G	ENST00000367278.3	+	18	1761	c.1672C>G	c.(1672-1674)Ctc>Gtc	p.L558V	LGR6_ENST00000439764.2_Missense_Mutation_p.L419V|LGR6_ENST00000255432.7_Missense_Mutation_p.L506V	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	558					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CTGTGAGTACCTCTTTGAAAG	0.607																																						ENST00000367278.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						c.(1672-1674)Ctc>Gtc		leucine-rich repeat containing G protein-coupled receptor 6							95.0	93.0	94.0					1																	202287103		2203	4300	6503	SO:0001583	missense	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202287103C>G	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.1672C>G	1.37:g.202287103C>G	ENSP00000356247:p.Leu558Val					LGR6_ENST00000439764.2_Missense_Mutation_p.L419V|LGR6_ENST00000255432.7_Missense_Mutation_p.L506V	p.L558V	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN			18	1761	+			558					Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Missense_Mutation	SNP	ENST00000367278.3	37	c.1672C>G	CCDS30971.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.022311	0.75275	.	.	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000439764	D;D;D	0.91740	-2.9;-2.9;-2.9	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.95417	0.8512	M	0.72479	2.2	0.52099	D	0.999944	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.97110	0.998;1.0;0.998	D	0.95607	0.8668	10	0.87932	D	0	.	14.5846	0.68315	0.0:0.9274:0.0:0.0726	.	419;506;558	Q9HBX8-1;Q9HBX8-2;Q9HBX8	.;.;LGR6_HUMAN	V	558;506;419	ENSP00000356247:L558V;ENSP00000255432:L506V;ENSP00000387869:L419V	ENSP00000255432:L506V	L	+	1	0	LGR6	200553726	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.591000	0.46163	2.575000	0.86900	0.485000	0.47835	CTC		0.607	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		34	70	0	0	0	1	0	34	70				
TFRC	7037	broad.mit.edu	37	3	195798986	195798986	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:195798986C>A	ENST00000360110.4	-	5	641	c.472G>T	c.(472-474)Gga>Tga	p.G158*	TFRC_ENST00000535031.1_5'UTR|RNU7-18P_ENST00000516365.1_RNA|TFRC_ENST00000420415.1_Nonsense_Mutation_p.G77*|TFRC_ENST00000392396.3_Nonsense_Mutation_p.G158*|TFRC_ENST00000540528.1_3'UTR	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	158					cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	TTTTGAGATCCAGCCTCACGA	0.333			T	BCL6	NHL																																	ENST00000360110.4				Dom	yes		3	3q29	7037	T	"""transferrin receptor (p90, CD71)"""			L	BCL6		NHL		0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(472-474)Gga>Tga		transferrin receptor							74.0	73.0	73.0					3																	195798986		2203	4300	6503	SO:0001587	stop_gained	7037				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity	g.chr3:195798986C>A	X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"""CD molecules"""	11763	protein-coding gene	gene with protein product		190010	"""transferrin receptor (p90, CD71)"""				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.472G>T	3.37:g.195798986C>A	ENSP00000353224:p.Gly158*					TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_5'UTR|TFRC_ENST00000420415.1_Nonsense_Mutation_p.G77*|TFRC_ENST00000392396.3_Nonsense_Mutation_p.G158*	p.G158*	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	5	641	-	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		158					D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Nonsense_Mutation	SNP	ENST00000360110.4	37	c.472G>T	CCDS3312.1	.	.	.	.	.	.	.	.	.	.	C	38	7.017912	0.98006	.	.	ENSG00000072274	ENST00000360110;ENST00000420415;ENST00000392396	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-22.5801	17.6486	0.88155	0.0:1.0:0.0:0.0	.	.	.	.	X	158;77;158	.	ENSP00000353224:G158X	G	-	1	0	TFRC	197283383	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.995000	0.63908	2.847000	0.97988	0.591000	0.81541	GGA		0.333	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341346.1			32	111	1	0	1.80694e-10	1	2.25722e-10	32	111				
ATP10D	57205	broad.mit.edu	37	4	47538840	47538840	+	Silent	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:47538840G>A	ENST00000273859.3	+	9	1550	c.1281G>A	c.(1279-1281)gaG>gaA	p.E427E	ATP10D_ENST00000504445.1_Silent_p.E412E	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	427					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						ACATCGCCGAGGATCTGGGAC	0.403																																						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.(1279-1281)gaG>gaA		ATPase, class V, type 10D							61.0	58.0	59.0					4																	47538840		2203	4300	6503	SO:0001819	synonymous_variant	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.chr4:47538840G>A	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.1281G>A	4.37:g.47538840G>A						ATP10D_ENST00000504445.1_Silent_p.E412E	p.E427E	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN			9	1550	+			427					A2RRC8|D6REN2|Q8NC70|Q96SR3	Silent	SNP	ENST00000273859.3	37	c.1281G>A	CCDS3476.1																																																																																				0.403	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		11	56	0	0	0	1	0	11	56				
SORCS1	114815	broad.mit.edu	37	10	108459079	108459079	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:108459079A>T	ENST00000263054.6	-	9	1313	c.1306T>A	c.(1306-1308)Tac>Aac	p.Y436N	SORCS1_ENST00000369698.1_5'UTR|SORCS1_ENST00000344440.6_Missense_Mutation_p.Y436N	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	436					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TAGAGGTTGTACGTGTCATTC	0.512																																						ENST00000263054.6																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.(1306-1308)Tac>Aac		sortilin-related VPS10 domain containing receptor 1							290.0	217.0	242.0					10																	108459079		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108459079A>T	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.1306T>A	10.37:g.108459079A>T	ENSP00000263054:p.Tyr436Asn					SORCS1_ENST00000369698.1_5'UTR|SORCS1_ENST00000344440.6_Missense_Mutation_p.Y436N	p.Y436N	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	9	1313	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	436					A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.1306T>A	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.833834	0.91036	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.37752	1.18;1.18	6.16	6.16	0.99307	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.65698	0.2716	M	0.85299	2.745	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;0.999;1.0	T	0.69379	-0.5161	9	.	.	.	-19.5685	16.8061	0.85666	1.0:0.0:0.0:0.0	.	436;436;436;436;436	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	N	436	ENSP00000263054:Y436N;ENSP00000345964:Y436N	.	Y	-	1	0	SORCS1	108449069	1.000000	0.71417	0.938000	0.37757	0.989000	0.77384	8.896000	0.92521	2.367000	0.80283	0.528000	0.53228	TAC		0.512	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		23	69	0	0	0	1	0	23	69				
MFAP3L	9848	broad.mit.edu	37	4	170913348	170913348	+	Silent	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:170913348C>G	ENST00000361618.3	-	3	718	c.411G>C	c.(409-411)acG>acC	p.T137T	RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Silent_p.T34T	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	137	Ig-like C2-type.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		GCAAGGTCACCGTGTTGTTCA	0.532																																						ENST00000361618.3																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(409-411)acG>acC		microfibrillar-associated protein 3-like							132.0	114.0	120.0					4																	170913348		2203	4300	6503	SO:0001819	synonymous_variant	9848					integral to membrane|plasma membrane		g.chr4:170913348C>G	AB014526	CCDS34103.1, CCDS43281.1	4q33	2014-08-12			ENSG00000198948	ENSG00000198948		"""Immunoglobulin superfamily / I-set domain containing"""	29083	protein-coding gene	gene with protein product						9734811	Standard	XM_005263366		Approved	KIAA0626, NYD-sp9	uc003isp.4	O75121	OTTHUMG00000160942	ENST00000361618.3:c.411G>C	4.37:g.170913348C>G						RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Silent_p.T34T	p.T137T	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)	3	718	-		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)	137			Ig-like C2-type.		A8K1X6|D3DP35|Q4W5N7|Q4W5N9|Q6TNA8|Q9BVE1|Q9BXK0	Silent	SNP	ENST00000361618.3	37	c.411G>C	CCDS34103.1																																																																																				0.532	MFAP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363043.2	NM_021647		34	102	0	0	0	1	0	34	102				
TMEM132B	114795	broad.mit.edu	37	12	126128737	126128737	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:126128737G>T	ENST00000299308.3	+	6	1546	c.1538G>T	c.(1537-1539)tGg>tTg	p.W513L	TMEM132B_ENST00000535886.1_Missense_Mutation_p.W25L	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	513						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GTCACTGTCTGGGCACCCAGG	0.537																																						ENST00000299308.3																			0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.(1537-1539)tGg>tTg		transmembrane protein 132B							73.0	76.0	75.0					12																	126128737		1999	4179	6178	SO:0001583	missense	114795					integral to membrane		g.chr12:126128737G>T	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1538G>T	12.37:g.126128737G>T	ENSP00000299308:p.Trp513Leu					TMEM132B_ENST00000535886.1_Missense_Mutation_p.W25L	p.W513L	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	6	1546	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		513					A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.1538G>T	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626438	0.66901	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.27402	1.67;1.67	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000001	T	0.60932	0.2307	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64504	-0.6392	10	0.66056	D	0.02	.	19.4324	0.94776	0.0:0.0:1.0:0.0	.	513	Q14DG7	T132B_HUMAN	L	513;25	ENSP00000299308:W513L;ENSP00000440436:W25L	ENSP00000299308:W513L	W	+	2	0	TMEM132B	124694690	1.000000	0.71417	0.990000	0.47175	0.051000	0.14879	9.449000	0.97603	2.578000	0.87016	0.655000	0.94253	TGG		0.537	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		12	62	1	0	4.3838e-07	1	5.05119e-07	12	62				
KLF15	28999	broad.mit.edu	37	3	126071727	126071727	+	Silent	SNP	C	C	A	rs200030394		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:126071727C>A	ENST00000296233.3	-	2	269	c.39G>T	c.(37-39)tcG>tcT	p.S13S	KLF15_ENST00000509675.1_5'UTR	NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	13					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to peptide (GO:1901653)|glial cell differentiation (GO:0010001)|glomerular visceral epithelial cell differentiation (GO:0072112)|glucose transport (GO:0015758)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		ATTTTGGCGACGAGAAGTTCT	0.597																																						ENST00000296233.3																			0				endometrium(1)|lung(7)|ovary(2)|skin(2)	12						c.(37-39)tcG>tcT		Kruppel-like factor 15							47.0	36.0	40.0					3																	126071727		2203	4300	6503	SO:0001819	synonymous_variant	28999					nucleus	DNA binding|zinc ion binding	g.chr3:126071727C>A	AB029254	CCDS3036.1	3q21.3	2013-01-08			ENSG00000163884	ENSG00000163884		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	14536	protein-coding gene	gene with protein product	"""kidney-enriched Kruppel-like factor"""	606465				10982849	Standard	NM_014079		Approved	KKLF	uc011bkk.1	Q9UIH9	OTTHUMG00000162689	ENST00000296233.3:c.39G>T	3.37:g.126071727C>A						KLF15_ENST00000509675.1_5'UTR	p.S13S	NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN		GBM - Glioblastoma multiforme(114;0.147)	2	269	-			13						Silent	SNP	ENST00000296233.3	37	c.39G>T	CCDS3036.1																																																																																				0.597	KLF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370096.1	NM_014079		7	33	1	0	3.09899e-07	1	3.59222e-07	7	33				
KLHL4	56062	broad.mit.edu	37	X	86873048	86873048	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chrX:86873048C>T	ENST00000373119.4	+	4	986	c.841C>T	c.(841-843)Cct>Tct	p.P281S	KLHL4_ENST00000373114.4_Missense_Mutation_p.P281S	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	281						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GCAGCTCCATCCTTCAAACTG	0.428																																						ENST00000373119.4																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						c.(841-843)Cct>Tct		kelch-like family member 4							107.0	88.0	95.0					X																	86873048		2203	4300	6503	SO:0001583	missense	56062					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86873048C>T	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.841C>T	X.37:g.86873048C>T	ENSP00000362211:p.Pro281Ser					KLHL4_ENST00000373114.4_Missense_Mutation_p.P281S	p.P281S	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN			4	986	+			281					B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	c.841C>T	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.507974	0.85282	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.76448	-1.02;-0.99	4.74	4.74	0.60224	.	0.061530	0.64402	D	0.000003	D	0.87269	0.6135	M	0.78456	2.415	0.80722	D	1	D;D	0.58970	0.973;0.984	P;D	0.65573	0.865;0.936	D	0.89086	0.3479	10	0.66056	D	0.02	.	15.9642	0.79952	0.0:1.0:0.0:0.0	.	281;281	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	S	281	ENSP00000362211:P281S;ENSP00000362206:P281S	ENSP00000362206:P281S	P	+	1	0	KLHL4	86759704	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	7.243000	0.78219	1.960000	0.56953	0.502000	0.49764	CCT		0.428	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			20	28	0	0	0	1	0	20	28				
RPL10L	140801	broad.mit.edu	37	14	47120850	47120850	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr14:47120850C>G	ENST00000298283.3	-	1	178	c.90G>C	c.(88-90)aaG>aaC	p.K30N		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	30					spermatogenesis (GO:0007283)|translation (GO:0006412)	cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	structural constituent of ribosome (GO:0003735)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						AGATGCGGATCTTGGCATCAG	0.527																																						ENST00000298283.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						c.(88-90)aaG>aaC		ribosomal protein L10-like							108.0	111.0	110.0					14																	47120850		2203	4300	6503	SO:0001583	missense	140801				spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	g.chr14:47120850C>G	AB063608	CCDS32071.1	14q21.2	2011-09-15			ENSG00000165496	ENSG00000165496		"""L ribosomal proteins"""	17976	protein-coding gene	gene with protein product						19123937	Standard	NM_080746		Approved		uc001wwg.3	Q96L21	OTTHUMG00000157869	ENST00000298283.3:c.90G>C	14.37:g.47120850C>G	ENSP00000298283:p.Lys30Asn						p.K30N	NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN			1	178	-			30					Q8IUD1	Missense_Mutation	SNP	ENST00000298283.3	37	c.90G>C	CCDS32071.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212125	0.58452	.	.	ENSG00000165496	ENST00000298283	T	0.77098	-1.07	4.32	3.43	0.39272	Ribosomal protein L10e/L16 (2);	0.000000	0.85682	D	0.000000	D	0.89294	0.6674	H	0.97659	4.05	0.80722	D	1	P	0.40211	0.707	P	0.55112	0.769	D	0.89490	0.3756	10	0.72032	D	0.01	-22.2242	6.8771	0.24153	0.0:0.7979:0.0:0.2021	.	30	Q96L21	RL10L_HUMAN	N	30	ENSP00000298283:K30N	ENSP00000298283:K30N	K	-	3	2	RPL10L	46190600	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	0.907000	0.28531	1.408000	0.46895	0.655000	0.94253	AAG		0.527	RPL10L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349819.1			27	114	0	0	0	1	0	27	114				
LONP2	83752	broad.mit.edu	37	16	48337193	48337193	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr16:48337193G>T	ENST00000285737.4	+	11	1865	c.1772G>T	c.(1771-1773)cGt>cTt	p.R591L	LONP2_ENST00000535754.1_Missense_Mutation_p.R547L	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AAGTTGGACCGTTCTGATGTG	0.542																																						ENST00000285737.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1771-1773)cGt>cTt		lon peptidase 2, peroxisomal							297.0	229.0	252.0					16																	48337193		2200	4300	6500	SO:0001583	missense	83752				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity	g.chr16:48337193G>T	AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"""ATPases / AAA-type"""	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.1772G>T	16.37:g.48337193G>T	ENSP00000285737:p.Arg591Leu					LONP2_ENST00000535754.1_Missense_Mutation_p.R547L	p.R591L	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN			11	1865	+			591						Missense_Mutation	SNP	ENST00000285737.4	37	c.1772G>T	CCDS10734.1	.	.	.	.	.	.	.	.	.	.	G	8.381	0.837486	0.16891	.	.	ENSG00000102910	ENST00000285737;ENST00000544734;ENST00000535754;ENST00000416006	T;T	0.30448	1.53;1.53	5.33	2.33	0.28932	.	0.351548	0.33309	N	0.005047	T	0.17280	0.0415	N	0.16233	0.39	0.25876	N	0.983643	B;B	0.25743	0.0;0.133	B;B	0.20577	0.001;0.03	T	0.14559	-1.0468	10	0.49607	T	0.09	-2.7589	9.1586	0.37007	0.2744:0.0:0.7256:0.0	.	547;591	B7ZKL7;Q86WA8	.;LONP2_HUMAN	L	591;320;547;547	ENSP00000285737:R591L;ENSP00000445426:R547L	ENSP00000285737:R591L	R	+	2	0	LONP2	46894694	0.156000	0.22821	0.068000	0.19968	0.197000	0.23852	1.547000	0.36190	0.389000	0.25086	0.655000	0.94253	CGT		0.542	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2	NM_031490		52	76	1	0	5.13769e-22	1	7.56926e-22	52	76				
IL27RA	9466	broad.mit.edu	37	19	14153563	14153563	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:14153563G>T	ENST00000263379.2	+	6	855	c.730G>T	c.(730-732)Ggg>Tgg	p.G244W		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	244					cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						GAACCTCTGTGGGACGCCTGG	0.502											OREG0025302	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(164;1849 1896 4443 37792 47834)	ENST00000263379.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						c.(730-732)Ggg>Tgg		interleukin 27 receptor, alpha							170.0	152.0	158.0					19																	14153563		2203	4300	6503	SO:0001583	missense	9466				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	g.chr19:14153563G>T	AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	17290	protein-coding gene	gene with protein product	"""T-cell cytokine receptor type 1"""	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		ENST00000263379.2:c.730G>T	19.37:g.14153563G>T	ENSP00000263379:p.Gly244Trp		OREG0025302	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	692		p.G244W	NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN			6	855	+			244					A0N0L1|O60624	Missense_Mutation	SNP	ENST00000263379.2	37	c.730G>T	CCDS12303.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.752625	0.49362	.	.	ENSG00000104998	ENST00000263379	T	0.62498	0.02	4.27	2.08	0.27032	.	0.193585	0.25601	N	0.029545	T	0.51805	0.1696	L	0.27053	0.805	0.09310	N	1	D	0.64830	0.994	P	0.51415	0.669	T	0.42699	-0.9436	10	0.72032	D	0.01	-15.8215	5.0158	0.14335	0.1164:0.2199:0.6638:0.0	.	244	Q6UWB1	I27RA_HUMAN	W	244	ENSP00000263379:G244W	ENSP00000263379:G244W	G	+	1	0	IL27RA	14014563	0.054000	0.20591	0.014000	0.15608	0.152000	0.21847	1.725000	0.38074	1.069000	0.40788	0.655000	0.94253	GGG		0.502	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458539.1	NM_004843		43	47	1	0	6.5261e-18	1	9.22738e-18	43	47				
ALDH9A1	223	broad.mit.edu	37	1	165667715	165667715	+	Silent	SNP	A	A	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:165667715A>G	ENST00000354775.4	-	1	385	c.81T>C	c.(79-81)acT>acC	p.T27T	ALDH9A1_ENST00000461664.1_5'UTR|ALDH9A1_ENST00000538148.1_5'Flank|RP11-466F5.6_ENST00000400982.2_RNA	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	3					carnitine biosynthetic process (GO:0045329)|cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|hormone metabolic process (GO:0042445)|kidney development (GO:0001822)|liver development (GO:0001889)|neurotransmitter biosynthetic process (GO:0042136)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	1-pyrroline dehydrogenase activity (GO:0033737)|3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|4-trimethylammoniobutyraldehyde dehydrogenase activity (GO:0047105)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|amine binding (GO:0043176)|aminobutyraldehyde dehydrogenase activity (GO:0019145)|NAD binding (GO:0051287)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					CGAAGGTGCCAGTGCTCATGG	0.687																																					Ovarian(179;1583 2014 18106 33801 42447)	ENST00000354775.4																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(79-81)acT>acC		aldehyde dehydrogenase 9 family, member A1	NADH(DB00157)						17.0	23.0	21.0					1																	165667715		2161	4248	6409	SO:0001819	synonymous_variant	223				carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity	g.chr1:165667715A>G	U34252	CCDS1250.2	1q22-q23	2008-02-05			ENSG00000143149	ENSG00000143149		"""Aldehyde dehydrogenases"""	412	protein-coding gene	gene with protein product		602733		ALDH7, ALDH4, ALDH9		8112751, 8786138	Standard	NM_000696		Approved	E3	uc001gdh.1	P49189	OTTHUMG00000034677	ENST00000354775.4:c.81T>C	1.37:g.165667715A>G						ALDH9A1_ENST00000461664.1_5'UTR	p.T27T	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN			1	385	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		3					B2R6X1|B4DXY7|Q5VV90|Q6LCL1|Q9NZT7	Silent	SNP	ENST00000354775.4	37	c.81T>C	CCDS1250.2																																																																																				0.687	ALDH9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083899.1			11	61	0	0	0	1	0	11	61				
LZTS1	11178	broad.mit.edu	37	8	20112403	20112403	+	Missense_Mutation	SNP	T	T	A	rs189671090		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:20112403T>A	ENST00000381569.1	-	2	647	c.290A>T	c.(289-291)gAc>gTc	p.D97V	LZTS1_ENST00000265801.6_Missense_Mutation_p.D97V|LZTS1_ENST00000522290.1_Missense_Mutation_p.D97V			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	97					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CGGGTCAAAGTCCACCCCAGC	0.592																																						ENST00000381569.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(289-291)gAc>gTc		leucine zipper, putative tumor suppressor 1							48.0	47.0	48.0					8																	20112403		2203	4300	6503	SO:0001583	missense	11178				cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:20112403T>A	AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"""F37/Esophageal cancer-related gene-coding leucine-zipper motif"""			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.290A>T	8.37:g.20112403T>A	ENSP00000370981:p.Asp97Val					LZTS1_ENST00000265801.6_Missense_Mutation_p.D97V|LZTS1_ENST00000522290.1_Missense_Mutation_p.D97V	p.D97V			Q9Y250	LZTS1_HUMAN		Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	2	647	-			97					D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Missense_Mutation	SNP	ENST00000381569.1	37	c.290A>T	CCDS6015.1	.	.	.	.	.	.	.	.	.	.	T	17.11	3.305717	0.60305	.	.	ENSG00000061337	ENST00000381569;ENST00000265801;ENST00000522290;ENST00000360248	T;T;T	0.24151	2.18;2.18;1.87	5.98	5.98	0.97165	.	0.246869	0.40728	N	0.001031	T	0.28665	0.0710	N	0.08118	0	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.71870	0.93;0.975	T	0.23013	-1.0200	10	0.16896	T	0.51	-53.1618	15.3021	0.73962	0.0:0.0:0.0:1.0	.	97;97	Q9Y250-4;Q9Y250	.;LZTS1_HUMAN	V	97	ENSP00000370981:D97V;ENSP00000265801:D97V;ENSP00000429263:D97V	ENSP00000265801:D97V	D	-	2	0	LZTS1	20156683	1.000000	0.71417	1.000000	0.80357	0.410000	0.31052	3.377000	0.52425	2.288000	0.76882	0.528000	0.53228	GAC		0.592	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	NM_021020		15	58	0	0	0	1	0	15	58				
SV2C	22987	broad.mit.edu	37	5	75490835	75490835	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:75490835C>A	ENST00000502798.2	+	3	1114	c.672C>A	c.(670-672)tgC>tgA	p.C224*	SV2C_ENST00000322285.7_Nonsense_Mutation_p.C224*	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	224					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TTCTGATTTGCATGTCTGTCA	0.483																																						ENST00000502798.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(670-672)tgC>tgA		synaptic vesicle glycoprotein 2C							365.0	362.0	363.0					5																	75490835		1979	4138	6117	SO:0001587	stop_gained	22987				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr5:75490835C>A	AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.672C>A	5.37:g.75490835C>A	ENSP00000423541:p.Cys224*					SV2C_ENST00000322285.7_Nonsense_Mutation_p.C224*	p.C224*	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)	3	1114	+		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)	224					Q496K1|Q9UPU8	Nonsense_Mutation	SNP	ENST00000502798.2	37	c.672C>A	CCDS43331.1	.	.	.	.	.	.	.	.	.	.	C	41	8.880124	0.98988	.	.	ENSG00000122012	ENST00000502798;ENST00000322285	.	.	.	5.15	4.27	0.50696	.	0.047856	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-28.1127	10.8779	0.46921	0.0:0.8547:0.0:0.1453	.	.	.	.	X	224	.	ENSP00000316983:C224X	C	+	3	2	SV2C	75526591	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.976000	0.29462	2.557000	0.86248	0.655000	0.94253	TGC		0.483	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368700.4			69	323	1	0	1.55545e-33	1	2.38729e-33	69	323				
LRRK1	79705	broad.mit.edu	37	15	101554519	101554519	+	Splice_Site	SNP	A	A	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr15:101554519A>C	ENST00000388948.3	+	11	1778		c.e11-1		LRRK1_ENST00000284395.5_Splice_Site	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCTCTCTCTCAGGCCCTCATG	0.547																																						ENST00000284395.5																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.e12-1		leucine-rich repeat kinase 1							79.0	85.0	83.0					15																	101554519		1931	4120	6051	SO:0001630	splice_region_variant	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101554519A>C	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.1420-1A>C	15.37:g.101554519A>C						LRRK1_ENST00000388948.3_Splice_Site				Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		12	1810	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)								Splice_Site	SNP	ENST00000388948.3	37		CCDS42086.1	.	.	.	.	.	.	.	.	.	.	A	12.53	1.965008	0.34659	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0194	0.58777	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LRRK1	99372042	1.000000	0.71417	0.930000	0.37139	0.119000	0.20118	7.771000	0.85420	1.991000	0.58162	0.450000	0.29827	.		0.547	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652	Intron	23	131	0	0	0	1	0	23	131				
OR5K3	403277	broad.mit.edu	37	3	98109825	98109825	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:98109825C>G	ENST00000383695.1	+	1	316	c.316C>G	c.(316-318)Ctt>Gtt	p.L106V	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	106						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						TTTTCTCTGTCTTGCTGAAAC	0.438																																						ENST00000383695.1																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(316-318)Ctt>Gtt		olfactory receptor, family 5, subfamily K, member 3							215.0	210.0	212.0					3																	98109825		2203	4300	6503	SO:0001583	missense	403277				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98109825C>G		CCDS33803.1	3q11.2	2013-09-23			ENSG00000206536	ENSG00000206536		"""GPCR / Class A : Olfactory receptors"""	31290	protein-coding gene	gene with protein product							Standard	NM_001005516		Approved		uc011bgw.2	A6NET4	OTTHUMG00000160077	ENST00000383695.1:c.316C>G	3.37:g.98109825C>G	ENSP00000373194:p.Leu106Val					RP11-325B23.2_ENST00000508616.1_lincRNA	p.L106V	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN			1	316	+			106						Missense_Mutation	SNP	ENST00000383695.1	37	c.316C>G	CCDS33803.1	.	.	.	.	.	.	.	.	.	.	C	4.507	0.094060	0.08632	.	.	ENSG00000206536	ENST00000383695	T	0.00397	7.57	5.15	-0.289	0.12851	GPCR, rhodopsin-like superfamily (1);	0.386473	0.18869	N	0.128908	T	0.00178	0.0005	N	0.25957	0.775	0.09310	N	0.999995	B	0.11235	0.004	B	0.15484	0.013	T	0.30031	-0.9992	10	0.12766	T	0.61	-17.1983	4.5646	0.12177	0.0:0.3828:0.2876:0.3296	.	106	A6NET4	OR5K3_HUMAN	V	106	ENSP00000373194:L106V	ENSP00000373194:L106V	L	+	1	0	OR5K3	99592515	0.000000	0.05858	0.829000	0.32907	0.931000	0.56810	-5.091000	0.00152	-0.050000	0.13356	0.603000	0.83216	CTT		0.438	OR5K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359110.1			66	364	0	0	0	1	0	66	364				
COL22A1	169044	broad.mit.edu	37	8	139631730	139631730	+	Missense_Mutation	SNP	G	G	T	rs367652032		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:139631730G>T	ENST00000303045.6	-	53	4239	c.3793C>A	c.(3793-3795)Cta>Ata	p.L1265I	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.L1245I	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1265	Collagen-like 12.|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)			GGTCCTGGTAGACCTGGCTCT	0.517										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.(3793-3795)Cta>Ata		collagen, type XXII, alpha 1							183.0	138.0	153.0					8																	139631730		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139631730G>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3793C>A	8.37:g.139631730G>T	ENSP00000303153:p.Leu1265Ile	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Missense_Mutation_p.L1245I|COL22A1_ENST00000341807.4_5'UTR	p.L1265I	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		53	4239	-	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)		1265			Collagen-like 12.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.3793C>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.027552	0.35797	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.94232	-3.38;-3.38	4.51	4.51	0.55191	.	0.390122	0.18469	N	0.140283	D	0.92993	0.7770	L	0.31926	0.97	0.33931	D	0.642048	D;D	0.62365	0.965;0.991	P;P	0.60173	0.724;0.87	D	0.93208	0.6597	10	0.37606	T	0.19	.	13.0478	0.58937	0.0:0.0:1.0:0.0	.	1245;1265	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	I	1265;1245;958	ENSP00000303153:L1265I;ENSP00000387655:L1245I	ENSP00000303153:L1265I	L	-	1	2	COL22A1	139700912	0.758000	0.28405	0.952000	0.39060	0.912000	0.54170	3.033000	0.49743	2.788000	0.95919	0.650000	0.86243	CTA		0.517	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		61	123	1	0	4.09106e-26	1	6.16856e-26	61	123				
ROBO2	6092	broad.mit.edu	37	3	77147171	77147171	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:77147171G>C	ENST00000461745.1	+	2	968	c.68G>C	c.(67-69)cGt>cCt	p.R23P	ROBO2_ENST00000487694.3_Missense_Mutation_p.R39P|ROBO2_ENST00000332191.8_Missense_Mutation_p.R23P	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	23					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GTAGGATCGCGTCTTCGCCAG	0.507																																						ENST00000461745.1																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(67-69)cGt>cCt		roundabout, axon guidance receptor, homolog 2 (Drosophila)							47.0	49.0	48.0					3																	77147171		1940	4122	6062	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77147171G>C	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.68G>C	3.37:g.77147171G>C	ENSP00000417164:p.Arg23Pro					ROBO2_ENST00000332191.8_Missense_Mutation_p.R23P|ROBO2_ENST00000487694.3_Missense_Mutation_p.R39P	p.R23P	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	2	968	+			23					O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.68G>C	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874180	0.72180	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	T;T;T	0.64085	-0.08;-0.07;-0.05	5.12	5.12	0.69794	.	0.000000	0.39759	U	0.001275	T	0.70535	0.3235	L	0.27053	0.805	0.30137	N	0.8042469999999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.997	T	0.74856	-0.3522	9	0.72032	D	0.01	.	18.541	0.91027	0.0:0.0:1.0:0.0	.	39;23;23	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	P	39;39;39;23;23	ENSP00000417335:R39P;ENSP00000417164:R23P;ENSP00000327536:R23P	ENSP00000327536:R23P	R	+	2	0	ROBO2	77229861	1.000000	0.71417	1.000000	0.80357	0.306000	0.27790	9.864000	0.99589	2.360000	0.80028	0.655000	0.94253	CGT		0.507	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		7	16	0	0	0	1	0	7	16				
OR56B4	196335	broad.mit.edu	37	11	6129878	6129878	+	Silent	SNP	A	A	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:6129878A>G	ENST00000316529.3	+	1	965	c.870A>G	c.(868-870)gcA>gcG	p.A290A	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	290						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCCCCCTGCACTCAACCCCC	0.507																																						ENST00000316529.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21						c.(868-870)gcA>gcG		olfactory receptor, family 56, subfamily B, member 4							92.0	96.0	94.0					11																	6129878		2201	4296	6497	SO:0001819	synonymous_variant	196335				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6129878A>G	AB065513	CCDS31406.1	11p15.4	2012-08-09			ENSG00000180919	ENSG00000180919		"""GPCR / Class A : Olfactory receptors"""	15248	protein-coding gene	gene with protein product							Standard	NM_001005181		Approved		uc010qzx.2	Q8NH76	OTTHUMG00000165531	ENST00000316529.3:c.870A>G	11.37:g.6129878A>G						RP11-290F24.3_ENST00000529961.1_RNA	p.A290A	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	965	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	290					Q6IFD7	Silent	SNP	ENST00000316529.3	37	c.870A>G	CCDS31406.1																																																																																				0.507	OR56B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384668.1	NM_001005181		35	104	0	0	0	1	0	35	104				
MARK4	57787	broad.mit.edu	37	19	45774876	45774876	+	Silent	SNP	C	C	T	rs151153987		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:45774876C>T	ENST00000262891.4	+	8	1027	c.696C>T	c.(694-696)taC>taT	p.Y232Y	MARK4_ENST00000300843.4_Silent_p.Y232Y	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	232	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GCAAGAAGTACGACGGGCCGG	0.622													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17721	0.0		0.0	False		,,,				2504	0.0					ENST00000300843.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(694-696)taC>taT		MAP/microtubule affinity-regulating kinase 4		C	,	2,4404	4.2+/-10.8	0,2,2201	66.0	68.0	67.0		696,696	0.8	1.0	19	dbSNP_134	67	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MARK4	NM_001199867.1,NM_031417.3	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	232/753,232/689	45774876	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	57787				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	g.chr19:45774876C>T	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"""MAP/microtubule affinity-regulating kinase like 1"""	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.696C>T	19.37:g.45774876C>T						MARK4_ENST00000262891.4_Silent_p.Y232Y	p.Y232Y	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	8	993	+		all_neural(266;0.224)|Ovarian(192;0.231)	232			Protein kinase.		Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Silent	SNP	ENST00000262891.4	37	c.696C>T	CCDS56097.1																																																																																				0.622	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	NM_031417		12	85	0	0	0	1	0	12	85				
PYGL	5836	broad.mit.edu	37	14	51387764	51387764	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr14:51387764C>A	ENST00000216392.7	-	6	1014	c.682G>T	c.(682-684)Gac>Tac	p.D228Y	PYGL_ENST00000532462.1_Missense_Mutation_p.D228Y|PYGL_ENST00000544180.2_Missense_Mutation_p.D194Y	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	228					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	ACGGGGGTGTCATATGGCAGA	0.527																																						ENST00000216392.7																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25						c.(682-684)Gac>Tac		phosphorylase, glycogen, liver	Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)						79.0	83.0	81.0					14																	51387764		2203	4300	6503	SO:0001583	missense	5836				glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	g.chr14:51387764C>A		CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	9725	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	"""phosphorylase, glycogen; liver"""			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.682G>T	14.37:g.51387764C>A	ENSP00000216392:p.Asp228Tyr					PYGL_ENST00000544180.2_Missense_Mutation_p.D194Y|PYGL_ENST00000532462.1_Missense_Mutation_p.D228Y	p.D228Y	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN			6	1014	-	all_epithelial(31;0.00825)|Breast(41;0.148)		228					A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Missense_Mutation	SNP	ENST00000216392.7	37	c.682G>T	CCDS32080.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.007743	0.93287	.	.	ENSG00000100504	ENST00000532462;ENST00000544180;ENST00000216392	D;D;D	0.96396	-4.0;-4.0;-4.0	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.99086	0.9686	H	0.98849	4.35	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.98942	1.0791	10	0.87932	D	0	-34.527	19.3504	0.94381	0.0:1.0:0.0:0.0	.	194;228;228	F5H816;E9PK47;P06737	.;.;PYGL_HUMAN	Y	228;194;228	ENSP00000431657:D228Y;ENSP00000443787:D194Y;ENSP00000216392:D228Y	ENSP00000216392:D228Y	D	-	1	0	PYGL	50457514	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.750000	0.85110	2.885000	0.99019	0.655000	0.94253	GAC		0.527	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863		11	68	1	0	7.03913e-09	1	8.46449e-09	11	68				
CASP7	840	broad.mit.edu	37	10	115489094	115489094	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:115489094G>A	ENST00000345633.4	+	8	1091	c.707G>A	c.(706-708)gGa>gAa	p.G236E	CASP7_ENST00000452490.2_Missense_Mutation_p.G211E|CASP7_ENST00000369315.1_Missense_Mutation_p.G236E|CASP7_ENST00000369321.2_Missense_Mutation_p.G269E|CASP7_ENST00000369331.4_Missense_Mutation_p.E225K|CASP7_ENST00000369318.3_Missense_Mutation_p.G236E	NM_033339.4	NP_203125.1	P55210	CASP7_HUMAN	caspase 7, apoptosis-related cysteine peptidase	236					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway (GO:0097193)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		AGGAGCCCAGGAAGAGGCTCC	0.502																																						ENST00000369321.2																			0				kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8						c.(805-807)gGa>gAa		caspase 7, apoptosis-related cysteine peptidase							107.0	113.0	111.0					10																	115489094		2203	4300	6503	SO:0001583	missense	840				activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis	cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm	cysteine-type endopeptidase activity|protein binding	g.chr10:115489094G>A	U37448	CCDS7580.1, CCDS7581.1, CCDS7582.1, CCDS58096.1, CCDS73200.1	10q25	2006-02-17	2005-08-17		ENSG00000165806	ENSG00000165806		"""Caspases"""	1508	protein-coding gene	gene with protein product		601761	"""caspase 7, apoptosis-related cysteine protease"""			8521391, 8576161	Standard	NM_033338		Approved	MCH3, CMH-1, ICE-LAP3	uc010qsa.3	P55210	OTTHUMG00000019076	ENST00000345633.4:c.707G>A	10.37:g.115489094G>A	ENSP00000298701:p.Gly236Glu					CASP7_ENST00000369318.3_Missense_Mutation_p.G236E|CASP7_ENST00000369331.4_Missense_Mutation_p.E225K|CASP7_ENST00000369315.1_Missense_Mutation_p.G236E|CASP7_ENST00000345633.4_Missense_Mutation_p.G236E|CASP7_ENST00000452490.2_Missense_Mutation_p.G211E	p.G269E	NM_033338.5	NP_203124.1	P55210	CASP7_HUMAN		Epithelial(162;0.012)|all cancers(201;0.014)	8	1126	+		Colorectal(252;0.0946)|Breast(234;0.188)	236					B4DQU7|B5BU45|D3DRB8|Q13364|Q53YD5|Q5SVL0|Q5SVL3|Q96BA0	Missense_Mutation	SNP	ENST00000345633.4	37	c.806G>A	CCDS7581.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.04|10.04	1.242293|1.242293	0.22796|0.22796	.|.	.|.	ENSG00000165806|ENSG00000165806	ENST00000369331|ENST00000369321;ENST00000345633;ENST00000369318;ENST00000442393;ENST00000369315;ENST00000452490	T|T;T;T;T;T	0.09073|0.19250	3.02|2.16;2.16;2.16;2.16;2.16	5.85|5.85	2.88|2.88	0.33553|0.33553	.|Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (2);	.|0.157004	.|0.56097	.|N	.|0.000023	T|T	0.24122|0.24122	0.0584|0.0584	.|.	.|.	.|.	0.27071|0.27071	N|N	0.963317|0.963317	B|D;B;D;D	0.16802|0.76494	0.019|0.999;0.161;0.999;0.999	B|D;B;P;D	0.15484|0.64687	0.013|0.928;0.043;0.882;0.928	T|T	0.05767|0.05767	-1.0865|-1.0865	8|9	0.87932|0.06625	D|T	0|0.88	.|.	9.0534|9.0534	0.36389|0.36389	0.1338:0.1226:0.7436:0.0|0.1338:0.1226:0.7436:0.0	.|.	225|211;244;269;236	P55210-2|B4DQU7;B4DWA2;P55210-3;P55210	.|.;.;.;CASP7_HUMAN	K|E	225|269;236;236;197;236;211	ENSP00000358337:E225K|ENSP00000358327:G269E;ENSP00000298701:G236E;ENSP00000358324:G236E;ENSP00000358321:G236E;ENSP00000398107:G211E	ENSP00000358337:E225K|ENSP00000298701:G236E	E|G	+|+	1|2	0|0	CASP7|CASP7	115479084|115479084	0.996000|0.996000	0.38824|0.38824	0.099000|0.099000	0.21106|0.21106	0.981000|0.981000	0.71138|0.71138	2.295000|2.295000	0.43576|0.43576	1.481000|1.481000	0.48307|0.48307	0.655000|0.655000	0.94253|0.94253	GAA|GGA		0.502	CASP7-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050439.1	NM_033338		45	139	0	0	0	1	0	45	139				
EYA4	2070	broad.mit.edu	37	6	133846196	133846196	+	Intron	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:133846196T>C	ENST00000367895.5	+	19	2202				EYA4_ENST00000531901.1_Intron|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000430974.2_Silent_p.T546T|EYA4_ENST00000431403.2_Silent_p.T594T|EYA4_ENST00000355286.6_Intron|EYA4_ENST00000452339.2_Silent_p.T540T|EYA4_ENST00000355167.3_Silent_p.T594T|EYA4_ENST00000525849.1_Silent_p.T571T	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4						anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		GATTTGGCACTAACATAACTT	0.408																																					Melanoma(57;398 1237 3528 4702 7415)	ENST00000355167.3																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48						c.(1780-1782)acT>acC		eyes absent homolog 4 (Drosophila)							165.0	153.0	157.0					6																	133846196		2203	4300	6503	SO:0001627	intron_variant	2070				anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr6:133846196T>C	Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3522	protein-coding gene	gene with protein product		603550	"""eyes absent (Drosophila) homolog 4"", ""eyes absent homolog 4 (Drosophila)"""	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.1739-96T>C	6.37:g.133846196T>C						EYA4_ENST00000355286.6_Intron|EYA4_ENST00000431403.2_Silent_p.T594T|EYA4_ENST00000525849.1_Silent_p.T571T|EYA4_ENST00000430974.2_Silent_p.T546T|EYA4_ENST00000531901.1_Intron|EYA4_ENST00000452339.2_Silent_p.T540T|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000367895.5_Intron	p.T594T	NM_172105.3	NP_742103.1	O95677	EYA4_HUMAN		GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)	19	2240	+	Colorectal(23;0.221)		594					B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Silent	SNP	ENST00000367895.5	37	c.1782T>C	CCDS5165.1																																																																																				0.408	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100		21	86	0	0	0	1	0	21	86				
KIF21B	23046	broad.mit.edu	37	1	200971388	200971388	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:200971388G>A	ENST00000422435.2	-	9	1619	c.1303C>T	c.(1303-1305)Cgg>Tgg	p.R435W	KIF21B_ENST00000461742.2_Missense_Mutation_p.R435W|KIF21B_ENST00000360529.5_Missense_Mutation_p.R435W|KIF21B_ENST00000332129.2_Missense_Mutation_p.R435W	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	435					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						ACCCGCAGCCGCAGGGCCCCA	0.607																																						ENST00000332129.2																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						c.(1303-1305)Cgg>Tgg		kinesin family member 21B							129.0	114.0	119.0					1																	200971388		2203	4300	6503	SO:0001583	missense	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200971388G>A	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.1303C>T	1.37:g.200971388G>A	ENSP00000411831:p.Arg435Trp					KIF21B_ENST00000360529.5_Missense_Mutation_p.R435W|KIF21B_ENST00000422435.2_Missense_Mutation_p.R435W|KIF21B_ENST00000461742.2_Missense_Mutation_p.R435W	p.R435W	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN			9	1619	-			435					B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	c.1303C>T	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	g	20.7	4.035834	0.75617	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.74632	-0.5;-0.81;-0.86;-0.55	5.79	3.91	0.45181	.	0.000000	0.85682	D	0.000000	D	0.86062	0.5843	M	0.85299	2.745	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.993;0.993;0.965;0.997	D	0.86739	0.1953	10	0.87932	D	0	.	11.2396	0.48962	0.0663:0.0:0.8059:0.1278	.	435;435;435;435	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	W	435	ENSP00000328494:R435W;ENSP00000353724:R435W;ENSP00000433808:R435W;ENSP00000411831:R435W	ENSP00000328494:R435W	R	-	1	2	KIF21B	199238011	1.000000	0.71417	0.987000	0.45799	0.780000	0.44128	3.920000	0.56446	0.782000	0.33613	0.552000	0.68991	CGG		0.607	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		27	113	0	0	0	1	0	27	113				
FIGN	55137	broad.mit.edu	37	2	164466530	164466530	+	Silent	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:164466530C>T	ENST00000333129.3	-	3	2126	c.1812G>A	c.(1810-1812)cgG>cgA	p.R604R	FIGN_ENST00000482917.1_5'Flank|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	604					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CGGTTCTCATCCGACTGACTG	0.458																																						ENST00000333129.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						c.(1810-1812)cgG>cgA		fidgetin							95.0	90.0	92.0					2																	164466530		1964	4148	6112	SO:0001819	synonymous_variant	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164466530C>T	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.1812G>A	2.37:g.164466530C>T						FIGN_ENST00000409634.1_Intron	p.R604R	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN			3	2126	-			604					B3KWM0|Q9H6M5|Q9NVZ9	Silent	SNP	ENST00000333129.3	37	c.1812G>A	CCDS2221.2																																																																																				0.458	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		30	99	0	0	0	1	0	30	99				
ENDOV	284131	broad.mit.edu	37	17	78389025	78389025	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:78389025G>C	ENST00000518137.1	+	1	59	c.31G>C	c.(31-33)Gag>Cag	p.E11Q	ENDOV_ENST00000517295.2_5'Flank|CTD-2047H16.4_ENST00000573394.1_RNA|ENDOV_ENST00000522751.1_5'Flank|ENDOV_ENST00000523999.1_Missense_Mutation_p.E11Q|ENDOV_ENST00000518644.1_5'Flank|ENDOV_ENST00000518907.1_5'Flank|ENDOV_ENST00000520367.1_Missense_Mutation_p.E11Q|ENDOV_ENST00000517795.1_5'Flank|ENDOV_ENST00000323854.5_Missense_Mutation_p.E11Q|ENDOV_ENST00000518901.1_5'Flank|ENDOV_ENST00000520284.1_5'Flank|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA	NM_173627.3	NP_775898.2	Q8N8Q3	ENDOV_HUMAN	endonuclease V	11					DNA repair (GO:0006281)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|endoribonuclease activity, producing 5'-phosphomonoesters (GO:0016891)|magnesium ion binding (GO:0000287)|single-stranded RNA binding (GO:0003727)|structure-specific DNA binding (GO:0043566)			endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						AGGGCCGCCGGAGGAAACGCT	0.716								Direct reversal of damage																														ENST00000518137.1																			0				endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						c.(31-33)Gag>Cag	Direct reversal of damage	endonuclease V							32.0	43.0	40.0					17																	78389025		1972	4172	6144	SO:0001583	missense	284131				DNA repair		endodeoxyribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding	g.chr17:78389025G>C		CCDS54172.1, CCDS54173.1, CCDS54174.1	17q25.3	2011-05-05			ENSG00000173818	ENSG00000173818			26640	protein-coding gene	gene with protein product						12853604	Standard	NM_001164638		Approved	FLJ35220	uc021ueo.1	Q8N8Q3	OTTHUMG00000164638	ENST00000518137.1:c.31G>C	17.37:g.78389025G>C	ENSP00000429190:p.Glu11Gln					ENDOV_ENST00000520367.1_Missense_Mutation_p.E11Q|ENDOV_ENST00000323854.5_Missense_Mutation_p.E11Q|ENDOV_ENST00000523999.1_Missense_Mutation_p.E11Q	p.E11Q	NM_173627.3	NP_775898.2	Q8N8Q3	ENDOV_HUMAN			1	59	+			11					I3L3S4|Q6P2G2|Q86X99|Q8NAK0	Missense_Mutation	SNP	ENST00000518137.1	37	c.31G>C	CCDS54172.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543011	0.65198	.	.	ENSG00000173818	ENST00000518137;ENST00000520367;ENST00000523999;ENST00000323854	T;T;T;T	0.48201	2.43;1.85;0.82;1.83	3.75	1.52	0.23074	.	0.583953	0.14630	U	0.307893	T	0.47728	0.1461	M	0.62723	1.935	0.19775	N	0.999951	P;P;B;P	0.51057	0.577;0.708;0.32;0.941	B;B;B;P	0.49332	0.118;0.178;0.074;0.607	T	0.31166	-0.9953	10	0.42905	T	0.14	-2.8257	5.6958	0.17855	0.123:0.1998:0.6772:0.0	.	11;11;11;11	Q8N8Q3;Q8N8Q3-2;Q8N8Q3-3;E5RFW0	ENDOV_HUMAN;.;.;.	Q	11	ENSP00000429190:E11Q;ENSP00000431036:E11Q;ENSP00000427921:E11Q;ENSP00000317810:E11Q	ENSP00000317810:E11Q	E	+	1	0	ENDOV	76003620	0.938000	0.31826	0.136000	0.22124	0.298000	0.27526	1.925000	0.40074	0.692000	0.31613	0.467000	0.42956	GAG		0.716	ENDOV-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379487.1	NM_173627		6	40	0	0	0	1	0	6	40				
MED29	55588	broad.mit.edu	37	19	39888291	39888291	+	Silent	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:39888291C>T	ENST00000599213.2	+	4	582	c.555C>T	c.(553-555)gtC>gtT	p.V185V	MED29_ENST00000594368.1_Missense_Mutation_p.S162L|MED29_ENST00000315588.5_Silent_p.V206V			Q9NX70	MED29_HUMAN	mediator complex subunit 29	185					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)				lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CCAACAAGGTCACGGGCAAGA	0.627											OREG0025460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000594368.1																			0				lung(2)|ovary(1)|pancreas(1)	4						c.(484-486)tCa>tTa		mediator complex subunit 29							73.0	56.0	62.0					19																	39888291		2203	4300	6503	SO:0001819	synonymous_variant	55588				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding	g.chr19:39888291C>T	AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"""intersex-like (Drosophila)"""	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70		ENST00000599213.2:c.555C>T	19.37:g.39888291C>T			OREG0025460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	889	MED29_ENST00000599213.2_Silent_p.V185V|MED29_ENST00000315588.5_Silent_p.V206V	p.S162L			Q9NX70	MED29_HUMAN	Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		4	515	+	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		0					B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Missense_Mutation	SNP	ENST00000599213.2	37	c.485C>T																																																																																					0.627	MED29-011	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470870.1	XM_290829		9	33	0	0	0	1	0	9	33				
SALL1	6299	broad.mit.edu	37	16	51172930	51172930	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr16:51172930C>T	ENST00000251020.4	-	2	3236	c.3203G>A	c.(3202-3204)gGc>gAc	p.G1068D	SALL1_ENST00000440970.1_Missense_Mutation_p.G971D|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1068					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CTGATTGGGGCCAAGGTTGGA	0.502																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			0				NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(2911-2913)gGc>gAc		spalt-like transcription factor 1							85.0	81.0	83.0					16																	51172930		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51172930C>T	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.3203G>A	16.37:g.51172930C>T	ENSP00000251020:p.Gly1068Asp					SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.G1068D|SALL1_ENST00000566102.1_Intron	p.G971D	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	3343	-		all_cancers(37;0.0322)	1068					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.2912G>A	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.083803	0.55861	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.07327	3.2;3.2	5.42	5.42	0.78866	.	0.158449	0.56097	D	0.000031	T	0.08088	0.0202	L	0.38175	1.15	0.44227	D	0.997068	B	0.15141	0.012	B	0.13407	0.009	T	0.24440	-1.0160	10	0.27082	T	0.32	.	12.5589	0.56269	0.0:0.9239:0.0:0.0761	.	1068	Q9NSC2	SALL1_HUMAN	D	1068;971;1032	ENSP00000251020:G1068D;ENSP00000407914:G971D	ENSP00000251020:G1068D	G	-	2	0	SALL1	49730431	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.257000	0.51500	2.529000	0.85273	0.563000	0.77884	GGC		0.502	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		31	27	0	0	0	1	0	31	27				
FAR2P3	100288897	broad.mit.edu	37	2	131459952	131459952	+	RNA	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:131459952C>A	ENST00000425151.1	+	0	479																											CCAGCAGGCCCCTGCCATTAT	0.473																																						ENST00000425151.1																			0																																																			100288897							g.chr2:131459952C>A																													2.37:g.131459952C>A														0	479	+									RNA	SNP	ENST00000425151.1	37																																																																																						0.473	AC140481.7-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000333662.1			3	8	1	0	0.004672	1	0.00480905	3	8				
PTPN3	5774	broad.mit.edu	37	9	112172685	112172685	+	Nonsense_Mutation	SNP	C	C	A	rs141809051		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:112172685C>A	ENST00000374541.2	-	15	1428	c.1324G>T	c.(1324-1326)Gag>Tag	p.E442*	PTPN3_ENST00000412145.1_Nonsense_Mutation_p.E311*|PTPN3_ENST00000262539.3_Nonsense_Mutation_p.E288*|PTPN3_ENST00000446349.1_Nonsense_Mutation_p.E266*|PTPN3_ENST00000394827.3_5'UTR	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	442					negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GGATTGTTCTCGGATAAACTC	0.483																																						ENST00000412145.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(931-933)Gag>Tag		protein tyrosine phosphatase, non-receptor type 3							80.0	87.0	85.0					9																	112172685		2202	4300	6502	SO:0001587	stop_gained	5774				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112172685C>A		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.1324G>T	9.37:g.112172685C>A	ENSP00000363667:p.Glu442*					PTPN3_ENST00000374541.2_Nonsense_Mutation_p.E442*|PTPN3_ENST00000446349.1_Nonsense_Mutation_p.E266*|PTPN3_ENST00000394827.3_5'UTR|PTPN3_ENST00000262539.3_Nonsense_Mutation_p.E288*	p.E311*	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN			10	3484	-			442			FERM.		A0AUW9|E7EN99|E9PGU7	Nonsense_Mutation	SNP	ENST00000374541.2	37	c.931G>T	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	C	55	24.971947	0.99963	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000446349;ENST00000374541;ENST00000262539	.	.	.	5.55	5.55	0.83447	.	0.421373	0.26058	N	0.026587	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	19.5059	0.95116	0.0:1.0:0.0:0.0	.	.	.	.	X	442;311;266;442;288	.	ENSP00000262539:E288X	E	-	1	0	PTPN3	111212506	1.000000	0.71417	0.993000	0.49108	0.921000	0.55340	2.593000	0.46180	2.597000	0.87782	0.563000	0.77884	GAG		0.483	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			47	86	1	0	7.88023e-25	1	1.17898e-24	47	86				
OR10A5	144124	broad.mit.edu	37	11	6867574	6867574	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:6867574C>A	ENST00000299454.4	+	1	692	c.661C>A	c.(661-663)Cgc>Agc	p.R221S	OR10A5_ENST00000379831.2_Missense_Mutation_p.R225S			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	221					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTCCTATACTCGCATTGCTGC	0.488																																					Pancreas(44;21 1072 25662 28041 45559)	ENST00000299454.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21						c.(661-663)Cgc>Agc		olfactory receptor, family 10, subfamily A, member 5							287.0	233.0	251.0					11																	6867574		2201	4296	6497	SO:0001583	missense	144124				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6867574C>A	AF324499	CCDS7773.1	11p15.4	2012-08-09			ENSG00000166363	ENSG00000166363		"""GPCR / Class A : Olfactory receptors"""	15131	protein-coding gene	gene with protein product		608493		OR10A1			Standard	NM_178168		Approved	OR11-403, JCG6	uc001met.1	Q9H207	OTTHUMG00000165738	ENST00000299454.4:c.661C>A	11.37:g.6867574C>A	ENSP00000299454:p.Arg221Ser					OR10A5_ENST00000379831.2_Missense_Mutation_p.R225S	p.R221S			Q9H207	O10A5_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	692	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	221					O95223|Q52M66|Q96R21|Q96R22	Missense_Mutation	SNP	ENST00000299454.4	37	c.661C>A	CCDS7773.1	.	.	.	.	.	.	.	.	.	.	.	11.48	1.650404	0.29336	.	.	ENSG00000166363	ENST00000299454;ENST00000379831	T;T	0.00099	8.73;8.73	3.59	-0.582	0.11709	GPCR, rhodopsin-like superfamily (1);	0.329401	0.26650	N	0.023209	T	0.00178	0.0005	L	0.38175	1.15	0.09310	N	1	B	0.31968	0.349	P	0.45998	0.5	T	0.23619	-1.0183	10	0.40728	T	0.16	.	8.414	0.32659	0.0:0.6463:0.0:0.3537	.	221	Q9H207	O10A5_HUMAN	S	221;225	ENSP00000299454:R221S;ENSP00000369159:R225S	ENSP00000299454:R221S	R	+	1	0	OR10A5	6824150	0.000000	0.05858	0.002000	0.10522	0.391000	0.30476	-0.136000	0.10405	-0.102000	0.12197	0.591000	0.81541	CGC		0.488	OR10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385983.1	NM_178168		48	195	1	0	2.22293e-35	1	3.43221e-35	48	195				
CASP1	834	broad.mit.edu	37	11	104900411	104900411	+	Silent	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:104900411G>T	ENST00000533400.1	-	6	878	c.843C>A	c.(841-843)atC>atA	p.I281I	CASP1_ENST00000525825.1_Silent_p.I260I|CASP1_ENST00000527979.1_Silent_p.I244I|CASP1_ENST00000598974.1_Silent_p.I281I|CASP1_ENST00000594519.1_Silent_p.I188I|CASP1_ENST00000446369.1_Silent_p.I188I|CASP1_ENST00000526568.1_Silent_p.I188I|CASP1_ENST00000593315.1_Silent_p.I260I|CASP1_ENST00000436863.3_Silent_p.I281I|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000528974.1_Silent_p.I242I|CASP1_ENST00000393136.4_Silent_p.I260I|CASP1_ENST00000534497.1_Silent_p.I188I|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000415981.2_Intron	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	281					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic substance (GO:0071310)|execution phase of apoptosis (GO:0097194)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|membrane hyperpolarization (GO:0060081)|mitochondrial depolarization (GO:0051882)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|programmed necrotic cell death (GO:0097300)|proteolysis (GO:0006508)|pyroptosis (GO:0070269)|regulation of inflammatory response (GO:0050727)|response to ATP (GO:0033198)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|IPAF inflammasome complex (GO:0072557)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|endopeptidase activity (GO:0004175)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)	AGGCCTGGATGATGATCACCT	0.423																																					NSCLC(41;1246 1743 4934)	ENST00000533400.1																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5						c.(841-843)atC>atA		caspase 1, apoptosis-related cysteine peptidase	Minocycline(DB01017)|Penicillamine(DB00859)						95.0	81.0	86.0					11																	104900411		2202	4299	6501	SO:0001819	synonymous_variant	834				cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding	g.chr11:104900411G>T	U13697	CCDS8329.1, CCDS8330.1, CCDS8331.1, CCDS8332.1, CCDS53704.1	11q23	2012-02-29	2012-02-29		ENSG00000137752	ENSG00000137752		"""Caspases"""	1499	protein-coding gene	gene with protein product	"""caspase-1"", ""interleukin 1, beta, convertase"""	147678	"""caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase)"", ""caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)"""	IL1BC		1373520, 9250871	Standard	NM_033292		Approved	ICE	uc001pim.5	P29466	OTTHUMG00000048072	ENST00000533400.1:c.843C>A	11.37:g.104900411G>T						CASP1_ENST00000446369.1_Silent_p.I188I|CASP1_ENST00000598974.1_Silent_p.I281I|CASP1_ENST00000393136.4_Silent_p.I260I|CASP1_ENST00000525825.1_Silent_p.I260I|CASP1_ENST00000534497.1_Silent_p.I188I|CASP1_ENST00000526568.1_Silent_p.I188I|CASP1_ENST00000436863.3_Silent_p.I281I|CASP1_ENST00000527979.1_Silent_p.I244I|CASP1_ENST00000528974.1_Silent_p.I242I|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000594519.1_Silent_p.I188I|CASP1_ENST00000593315.1_Silent_p.I260I|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000353247.5_Intron	p.I281I	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	6	878	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	281					B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3	Silent	SNP	ENST00000533400.1	37	c.843C>A	CCDS8330.1																																																																																				0.423	CASP1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388116.1	NM_033292		16	64	1	0	6.31663e-08	1	7.42228e-08	16	64				
EIF4A1	1973	broad.mit.edu	37	17	7480740	7480740	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:7480740C>T	ENST00000293831.8	+	7	719	c.703C>T	c.(703-705)Ctt>Ttt	p.L235F	EIF4A1_ENST00000577269.1_Missense_Mutation_p.L235F|SNORA67_ENST00000384423.1_RNA|CD68_ENST00000250092.6_5'Flank|CD68_ENST00000380498.6_5'Flank|SNORD10_ENST00000459579.1_RNA|SENP3-EIF4A1_ENST00000579777.1_RNA|SNORA48_ENST00000386847.1_RNA|EIF4A1_ENST00000582746.1_Missense_Mutation_p.L235F	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	235					cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						CATTCGGATTCTTGTCAAGAA	0.532																																					Melanoma(120;278 1668 15796 27423 46368)	ENST00000293831.8																			0				NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						c.(703-705)Ctt>Ttt		eukaryotic translation initiation factor 4A1							65.0	66.0	66.0					17																	7480740		2203	4298	6501	SO:0001583	missense	1973				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity	g.chr17:7480740C>T	D13748	CCDS11113.1, CCDS58511.1	17p13	2012-02-23	2010-02-10		ENSG00000161960	ENSG00000161960		"""DEAD-boxes"""	3282	protein-coding gene	gene with protein product		602641	"""eukaryotic translation initiation factor 4A, isoform 1"""	EIF4A		8493113, 9790779	Standard	NM_001416		Approved	DDX2A, EIF-4A		P60842	OTTHUMG00000108149	ENST00000293831.8:c.703C>T	17.37:g.7480740C>T	ENSP00000293831:p.Leu235Phe					EIF4A1_ENST00000582746.1_Missense_Mutation_p.L235F|EIF4A1_ENST00000577269.1_Missense_Mutation_p.L235F|SENP3-EIF4A1_ENST00000579777.1_RNA	p.L235F	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN			7	719	+			235					B2R6L8|D3DTP9|J3QLC4|P04765|Q5U018|Q61516	Missense_Mutation	SNP	ENST00000293831.8	37	c.703C>T	CCDS11113.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.411204	0.42817	.	.	ENSG00000161960	ENST00000293831;ENST00000396527	T	0.26223	1.75	5.41	5.41	0.78517	DEAD-like helicase (1);	0.000000	0.85682	D	0.000000	T	0.50292	0.1607	M	0.79614	2.46	0.80722	D	1	D;D;P	0.63046	0.992;0.986;0.561	P;P;B	0.60789	0.879;0.844;0.116	T	0.54536	-0.8279	10	0.87932	D	0	-20.1603	16.6961	0.85336	0.0:1.0:0.0:0.0	.	235;235;235	A8K7F6;A8K088;P60842	.;.;IF4A1_HUMAN	F	235;58	ENSP00000293831:L235F	ENSP00000293831:L235F	L	+	1	0	EIF4A1	7421464	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.977000	0.40589	2.540000	0.85666	0.591000	0.81541	CTT		0.532	EIF4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226952.6	NM_001416		14	79	0	0	0	1	0	14	79				
MYO5B	4645	broad.mit.edu	37	18	47511159	47511159	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr18:47511159C>T	ENST00000285039.7	-	8	1174	c.875G>A	c.(874-876)gGa>gAa	p.G292E		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	292	Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GGAAGTGTCTCCTCCCTGTGA	0.527																																						ENST00000285039.7																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(874-876)gGa>gAa		myosin VB							114.0	118.0	117.0					18																	47511159		2010	4158	6168	SO:0001583	missense	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47511159C>T	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.875G>A	18.37:g.47511159C>T	ENSP00000285039:p.Gly292Glu						p.G292E	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	8	1174	-			292			Myosin head-like.		B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	c.875G>A	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.429957	0.43122	.	.	ENSG00000167306	ENST00000285039;ENST00000356732	D	0.88046	-2.33	5.51	5.51	0.81932	Myosin head, motor domain (2);	0.258207	0.36854	N	0.002373	D	0.83792	0.5331	L	0.41632	1.29	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.17979	0.02;0.003	T	0.77856	-0.2432	10	0.33141	T	0.24	.	19.0229	0.92922	0.0:1.0:0.0:0.0	.	291;292	Q7Z7A5;Q9ULV0	.;MYO5B_HUMAN	E	292;291	ENSP00000285039:G292E	ENSP00000285039:G292E	G	-	2	0	MYO5B	45765157	0.996000	0.38824	1.000000	0.80357	0.921000	0.55340	3.686000	0.54685	2.583000	0.87209	0.561000	0.74099	GGA		0.527	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			17	41	0	0	0	1	0	17	41				
REG3A	5068	broad.mit.edu	37	2	79384406	79384406	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:79384406C>A	ENST00000409839.3	-	6	510	c.474G>T	c.(472-474)tgG>tgT	p.W158C	AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000305165.2_Missense_Mutation_p.W158C|REG3A_ENST00000393878.1_Missense_Mutation_p.W158C	NM_002580.2|NM_138937.2	NP_002571.1|NP_620354.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	158	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|cell proliferation (GO:0008283)|heterophilic cell-cell adhesion (GO:0007157)|multicellular organismal development (GO:0007275)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						TATAATCTTTCCACCTCAGAA	0.458																																						ENST00000393878.1																			0				breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						c.(472-474)tgG>tgT		regenerating islet-derived 3 alpha							92.0	88.0	89.0					2																	79384406		2203	4300	6503	SO:0001583	missense	5068				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	g.chr2:79384406C>A	S51768	CCDS1965.1	2p12	2008-02-05	2005-02-11	2005-02-11	ENSG00000172016	ENSG00000172016			8601	protein-coding gene	gene with protein product		167805	"""pancreatitis-associated protein"""	PAP		8188210	Standard	NM_002580		Approved	HIP, REG-III, REG3, PBCGF, PAP1	uc002sof.2	Q06141	OTTHUMG00000130017	ENST00000409839.3:c.474G>T	2.37:g.79384406C>A	ENSP00000386630:p.Trp158Cys					REG3A_ENST00000305165.2_Missense_Mutation_p.W158C|REG3A_ENST00000409839.3_Missense_Mutation_p.W158C	p.W158C	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN			5	728	-			158			C-type lectin.			Missense_Mutation	SNP	ENST00000409839.3	37	c.474G>T	CCDS1965.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.062636	0.55432	.	.	ENSG00000172016	ENST00000409839;ENST00000393878;ENST00000305165	T;T;T	0.25749	1.78;1.78;1.78	3.96	3.96	0.45880	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.49305	D	0.000151	T	0.64427	0.2597	H	0.98178	4.165	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.76288	-0.3014	10	0.87932	D	0	.	11.8046	0.52147	0.0:1.0:0.0:0.0	.	158	Q06141	REG3A_HUMAN	C	158	ENSP00000386630:W158C;ENSP00000377456:W158C;ENSP00000304311:W158C	ENSP00000304311:W158C	W	-	3	0	REG3A	79237914	0.989000	0.36119	0.718000	0.30602	0.308000	0.27856	3.056000	0.49923	2.499000	0.84300	0.561000	0.74099	TGG		0.458	REG3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252290.2	NM_002580		11	51	1	0	0.000978159	1	0.00102184	11	51				
DEPDC7	91614	broad.mit.edu	37	11	33049357	33049357	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:33049357A>G	ENST00000241051.3	+	3	682	c.590A>G	c.(589-591)cAa>cGa	p.Q197R	DEPDC7_ENST00000311388.3_Missense_Mutation_p.Q188R	NM_001077242.1	NP_001070710.1	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	197					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						TTGTCTCCACAAGGTAAGCTA	0.338																																						ENST00000311388.3																			0				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						c.(562-564)cAa>cGa		DEP domain containing 7							72.0	67.0	69.0					11																	33049357		1821	4059	5880	SO:0001583	missense	91614				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:33049357A>G		CCDS41632.1, CCDS41633.1	11p13	2006-03-24			ENSG00000121690	ENSG00000121690			29899	protein-coding gene	gene with protein product		612294				10568747	Standard	NM_001077242		Approved		uc001mub.3	Q96QD5	OTTHUMG00000166242	ENST00000241051.3:c.590A>G	11.37:g.33049357A>G	ENSP00000241051:p.Gln197Arg					DEPDC7_ENST00000241051.3_Missense_Mutation_p.Q197R	p.Q188R	NM_139160.2	NP_631899.2	Q96QD5	DEPD7_HUMAN			3	939	+			197					G5E941|Q8N602|Q8NCU9|Q9UGK5	Missense_Mutation	SNP	ENST00000241051.3	37	c.563A>G	CCDS41632.1	.	.	.	.	.	.	.	.	.	.	A	9.676	1.147994	0.21288	.	.	ENSG00000121690	ENST00000241051;ENST00000311388	T;T	0.13778	2.56;2.56	5.76	4.64	0.57946	.	0.440276	0.26542	N	0.023788	T	0.08492	0.0211	N	0.20685	0.6	0.24211	N	0.995476	B;B;B	0.12630	0.006;0.001;0.0	B;B;B	0.08055	0.003;0.001;0.001	T	0.33548	-0.9864	10	0.21540	T	0.41	-9.4272	9.4658	0.38811	0.9193:0.0:0.0807:0.0	.	197;188;197	B4DJ78;G5E941;Q96QD5	.;.;DEPD7_HUMAN	R	197;188	ENSP00000241051:Q197R;ENSP00000308971:Q188R	ENSP00000241051:Q197R	Q	+	2	0	DEPDC7	33005933	1.000000	0.71417	0.998000	0.56505	0.949000	0.60115	1.813000	0.38962	1.017000	0.39495	0.454000	0.30748	CAA		0.338	DEPDC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388655.1	NM_139160		4	21	0	0	0	1	0	4	21				
NALCN	259232	broad.mit.edu	37	13	102047708	102047708	+	Silent	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr13:102047708G>A	ENST00000251127.6	-	3	198	c.117C>T	c.(115-117)caC>caT	p.H39H	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376200.5_Silent_p.H39H|NALCN_ENST00000376196.3_Silent_p.H39H	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	39					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCAGCAAAGAGTGAACCCACT	0.428																																						ENST00000251127.6																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(115-117)caC>caT		sodium leak channel, non-selective							116.0	96.0	103.0					13																	102047708		2203	4300	6503	SO:0001819	synonymous_variant	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:102047708G>A	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.117C>T	13.37:g.102047708G>A						NALCN_ENST00000376196.3_Silent_p.H39H|NALCN_ENST00000376200.5_Silent_p.H39H|NALCN_ENST00000470333.1_5'UTR	p.H39H	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			3	198	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		39					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	ENST00000251127.6	37	c.117C>T	CCDS9498.1																																																																																				0.428	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		12	39	0	0	0	1	0	12	39				
SIRT1	23411	broad.mit.edu	37	10	69648676	69648676	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:69648676G>T	ENST00000212015.6	+	3	637	c.584G>T	c.(583-585)gGc>gTc	p.G195V	SIRT1_ENST00000432464.1_Intron|SIRT1_ENST00000406900.1_5'Flank|SIRT1_ENST00000497639.1_3'UTR	NM_012238.4	NP_036370.2	Q96EB6	SIR1_HUMAN	sirtuin 1	195	Interaction with CCAR2.|Interaction with HIST1H1E.				angiogenesis (GO:0001525)|cell aging (GO:0007569)|cellular glucose homeostasis (GO:0001678)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to starvation (GO:0009267)|cellular response to tumor necrosis factor (GO:0071356)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|chromatin organization (GO:0006325)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|establishment of chromatin silencing (GO:0006343)|fatty acid homeostasis (GO:0055089)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of chromatin silencing (GO:0006344)|methylation-dependent chromatin silencing (GO:0006346)|muscle organ development (GO:0007517)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of cell growth (GO:0030308)|negative regulation of cellular response to testosterone stimulus (GO:2000655)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of helicase activity (GO:0051097)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of neuron death (GO:1901215)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostaglandin biosynthetic process (GO:0031393)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|ovulation from ovarian follicle (GO:0001542)|peptidyl-lysine acetylation (GO:0018394)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular senescence (GO:2000774)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of chromatin silencing (GO:0031937)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of macroautophagy (GO:0016239)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deacetylation (GO:0006476)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cell proliferation (GO:0042127)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle (GO:0007346)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of smooth muscle cell apoptotic process (GO:0034391)|response to hydrogen peroxide (GO:0042542)|response to insulin (GO:0032868)|response to oxidative stress (GO:0006979)|rRNA processing (GO:0006364)|single strand break repair (GO:0000012)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|triglyceride mobilization (GO:0006642)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|rDNA heterochromatin (GO:0033553)	bHLH transcription factor binding (GO:0043425)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase activity (GO:0004407)|HLH domain binding (GO:0043398)|identical protein binding (GO:0042802)|keratin filament binding (GO:1990254)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent protein deacetylase activity (GO:0034979)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						CTTATGATTGGCACAGATCCT	0.348																																						ENST00000212015.6																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						c.(583-585)gGc>gTc		sirtuin 1							132.0	130.0	131.0					10																	69648676		2203	4300	6503	SO:0001583	missense	23411				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding	g.chr10:69648676G>T	AF083106	CCDS7273.1, CCDS44412.1	10q21	2010-06-25	2010-06-25		ENSG00000096717	ENSG00000096717			14929	protein-coding gene	gene with protein product		604479	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 1"", ""sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae)"""			10381378	Standard	NM_012238		Approved	SIR2L1	uc001jnd.3	Q96EB6	OTTHUMG00000018340	ENST00000212015.6:c.584G>T	10.37:g.69648676G>T	ENSP00000212015:p.Gly195Val					SIRT1_ENST00000497639.1_3'UTR|SIRT1_ENST00000432464.1_Intron	p.G195V	NM_012238.4	NP_036370.2	Q96EB6	SIRT1_HUMAN			3	637	+			195			Interaction with HIST1H1E.		Q2XNF6|Q5JVQ0|Q9GZR9|Q9Y6F0	Missense_Mutation	SNP	ENST00000212015.6	37	c.584G>T	CCDS7273.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139962	0.77775	.	.	ENSG00000096717	ENST00000212015	T	0.28895	1.59	5.36	5.36	0.76844	.	0.262003	0.37669	N	0.001990	T	0.54464	0.1860	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.56269	-0.8007	10	0.87932	D	0	-9.5575	18.6816	0.91548	0.0:0.0:1.0:0.0	.	195	Q96EB6	SIRT1_HUMAN	V	195	ENSP00000212015:G195V	ENSP00000212015:G195V	G	+	2	0	SIRT1	69318682	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.073000	0.71245	2.497000	0.84241	0.655000	0.94253	GGC		0.348	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048296.1			39	98	1	0	4.92203e-23	1	7.30732e-23	39	98				
PCDHA4	56144	broad.mit.edu	37	5	140189135	140189135	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:140189135C>G	ENST00000530339.1	+	1	2363	c.2363C>G	c.(2362-2364)aCa>aGa	p.T788R	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.T788R|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.T788R	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	788	6 X 4 AA repeats of P-X-X-P.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCTGCAGACAACTGAGGAA	0.448																																						ENST00000530339.1																			0				breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78						c.(2362-2364)aCa>aGa									132.0	144.0	140.0					5																	140189135		2203	4300	6503	SO:0001583	missense	56144							g.chr5:140189135C>G	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.2363C>G	5.37:g.140189135C>G	ENSP00000435300:p.Thr788Arg					PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.T788R|PCDHA4_ENST00000356878.4_Missense_Mutation_p.T788R|PCDHA1_ENST00000504120.2_Intron	p.T788R	NM_018907.2	NP_061730.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2363	+								O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	c.2363C>G	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	c	6.145	0.395045	0.11638	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.11277	2.79;2.84;2.79	3.93	0.101	0.14517	.	2.551350	0.02499	U	0.090278	T	0.06096	0.0158	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.0	T	0.33420	-0.9869	10	0.44086	T	0.13	.	3.9077	0.09190	0.508:0.2744:0.0:0.2176	.	788;788;788	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	R	788	ENSP00000423470:T788R;ENSP00000349344:T788R;ENSP00000435300:T788R	ENSP00000349344:T788R	T	+	2	0	PCDHA4	140169319	0.000000	0.05858	0.000000	0.03702	0.536000	0.34869	-2.730000	0.00805	0.237000	0.21200	0.491000	0.48974	ACA		0.448	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		28	131	0	0	0	1	0	28	131				
GABRA4	2557	broad.mit.edu	37	4	46930548	46930548	+	Silent	SNP	A	A	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:46930548A>C	ENST00000264318.3	-	9	2341	c.1359T>G	c.(1357-1359)tcT>tcG	p.S453S		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	453					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TAGGAGAAGCAGATGGAAGTG	0.473																																					Ovarian(6;283 369 8234 12290 33402)	ENST00000264318.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1357-1359)tcT>tcG		gamma-aminobutyric acid (GABA) A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						114.0	102.0	106.0					4																	46930548		2203	4300	6503	SO:0001819	synonymous_variant	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46930548A>C		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.1359T>G	4.37:g.46930548A>C							p.S453S	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN			9	2341	-			453					Q8IYR7	Silent	SNP	ENST00000264318.3	37	c.1359T>G	CCDS3473.1																																																																																				0.473	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			16	99	0	0	0	1	0	16	99				
CACNA2D1	781	broad.mit.edu	37	7	81589061	81589061	+	Silent	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:81589061T>C	ENST00000356253.5	-	37	3342	c.3087A>G	c.(3085-3087)cgA>cgG	p.R1029R	CACNA2D1_ENST00000356860.3_Silent_p.R1017R|CACNA2D1_ENST00000535308.1_Silent_p.R229R			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	1029					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)			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)	GTATGAGCAGTCGTGTGTCAC	0.368																																						ENST00000356860.3																			0				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.(3049-3051)cgA>cgG		calcium channel, voltage-dependent, alpha 2/delta subunit 1	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						95.0	84.0	88.0					7																	81589061		2202	4300	6502	SO:0001819	synonymous_variant	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81589061T>C	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.3087A>G	7.37:g.81589061T>C						CACNA2D1_ENST00000535308.1_Silent_p.R229R|CACNA2D1_ENST00000356253.5_Silent_p.R1029R	p.R1017R	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN			37	3389	-			1029					Q17R45|Q9UD80|Q9UD81|Q9UD82	Silent	SNP	ENST00000356253.5	37	c.3051A>G																																																																																					0.368	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				13	51	0	0	0	1	0	13	51				
CNOT6	57472	broad.mit.edu	37	5	179976992	179976992	+	Silent	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:179976992G>A	ENST00000393356.1	+	5	598	c.174G>A	c.(172-174)ttG>ttA	p.L58L	CNOT6_ENST00000261951.4_Silent_p.L58L|CNOT6_ENST00000502447.1_3'UTR			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	58					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		CTTTGCATTTGAGTGACAATT	0.403																																						ENST00000393356.1																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23						c.(172-174)ttG>ttA		CCR4-NOT transcription complex, subunit 6							179.0	166.0	170.0					5																	179976992		2203	4300	6503	SO:0001819	synonymous_variant	57472				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding	g.chr5:179976992G>A	AB033020	CCDS4455.1	5q35.3	2014-06-17			ENSG00000113300	ENSG00000113300			14099	protein-coding gene	gene with protein product		608951				11889047	Standard	XM_005265953		Approved	CCR4, KIAA1194, Ccr4a	uc003mlx.3	Q9ULM6	OTTHUMG00000130935	ENST00000393356.1:c.174G>A	5.37:g.179976992G>A						CNOT6_ENST00000261951.4_Silent_p.L58L|CNOT6_ENST00000502447.1_3'UTR	p.L58L			Q9ULM6	CNOT6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)	5	598	+	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	58					A7MD46|D3DWR0	Silent	SNP	ENST00000393356.1	37	c.174G>A	CCDS4455.1																																																																																				0.403	CNOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253532.1	NM_015455		49	177	0	0	0	1	0	49	177				
KIR3DL2	3812	broad.mit.edu	37	19	55378000	55378000	+	Silent	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:55378000G>A	ENST00000326321.3	+	9	1215	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	KIR3DL2_ENST00000270442.5_Silent_p.Q377Q|KIR3DL1_ENST00000402254.2_Silent_p.Q394Q|RNU6-222P_ENST00000362438.1_RNA	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	394					cellular defense response (GO:0006968)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		AAGACCCTCAGGAGGTGACGT	0.498																																						ENST00000326321.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23						c.(1180-1182)caG>caA		killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2							262.0	252.0	255.0					19																	55378000		2203	4300	6503	SO:0001819	synonymous_variant	3812				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity	g.chr19:55378000G>A	L41270	CCDS12906.1, CCDS58677.1	19q13.4	2014-05-22			ENSG00000240403	ENSG00000240403		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6339	protein-coding gene	gene with protein product		604947				7716543, 8662091	Standard	NM_006737		Approved	cl-5, nkat4, nkat4a, nkat4b, CD158K	uc002qho.4	P43630	OTTHUMG00000065935	ENST00000326321.3:c.1182G>A	19.37:g.55378000G>A						KIR3DL1_ENST00000402254.2_Silent_p.Q394Q|KIR3DL2_ENST00000270442.5_Silent_p.Q377Q	p.Q394Q	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	9	1215	+			394					Q13238|Q14947|Q14948|Q92684|Q95366|Q95367|Q95368	Silent	SNP	ENST00000326321.3	37	c.1182G>A	CCDS12906.1																																																																																				0.498	KIR3DL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141241.1			73	273	0	0	0	1	0	73	273				
GPR162	27239	broad.mit.edu	37	12	6933779	6933779	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:6933779T>G	ENST00000311268.3	+	2	1502	c.715T>G	c.(715-717)Ttt>Gtt	p.F239V	GPR162_ENST00000382315.3_Intron|GPR162_ENST00000428545.2_Intron	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						CCGGCCAGCTTTTGAGGTACC	0.687																																						ENST00000311268.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						c.(715-717)Ttt>Gtt		G protein-coupled receptor 162							48.0	50.0	49.0					12																	6933779		2203	4300	6503	SO:0001583	missense	27239					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:6933779T>G	U47928, U47929, U47924, U47925	CCDS8563.1, CCDS44819.1	12p13	2012-08-21						"""GPCR / Class A : Orphans"""	16693	protein-coding gene	gene with protein product						15777626	Standard	NM_014449		Approved	A-2, GRCA	uc001qqw.1	Q16538		ENST00000311268.3:c.715T>G	12.37:g.6933779T>G	ENSP00000311528:p.Phe239Val					GPR162_ENST00000428545.2_Intron|GPR162_ENST00000382315.3_Intron	p.F239V	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN			2	1502	+			239					Q16664|Q59EH5|Q66K56	Missense_Mutation	SNP	ENST00000311268.3	37	c.715T>G	CCDS8563.1	.	.	.	.	.	.	.	.	.	.	T	17.12	3.307903	0.60305	.	.	ENSG00000250510	ENST00000311268	T	0.09538	2.97	4.63	4.63	0.57726	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.15825	0.0381	L	0.34521	1.04	0.80722	D	1	D;P	0.56968	0.978;0.8	P;B	0.54499	0.754;0.424	T	0.01549	-1.1327	9	0.42905	T	0.14	.	12.7441	0.57270	0.0:0.0:0.0:1.0	.	239;239	B7Z3U3;Q16538	.;GP162_HUMAN	V	239	ENSP00000311528:F239V	ENSP00000311528:F239V	F	+	1	0	GPR162	6804040	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.590000	0.67530	1.946000	0.56461	0.402000	0.26972	TTT		0.687	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399478.1	NM_019858		22	75	0	0	0	1	0	22	75				
MRGPRX3	117195	broad.mit.edu	37	11	18158802	18158802	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:18158802G>A	ENST00000396275.2	+	3	414	c.53G>A	c.(52-54)cGt>cAt	p.R18H		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						ATCAACGGACGTGAGGAGACT	0.542																																						ENST00000396275.2																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(52-54)cGt>cAt		MAS-related GPR, member X3							160.0	156.0	157.0					11																	18158802		2200	4293	6493	SO:0001583	missense	117195					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18158802G>A		CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"""GPCR / Class A : Orphans"""	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.53G>A	11.37:g.18158802G>A	ENSP00000379571:p.Arg18His						p.R18H	NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN			3	414	+			18					B0M0L1|Q8TDE0|Q8TDE1	Missense_Mutation	SNP	ENST00000396275.2	37	c.53G>A	CCDS7830.1	.	.	.	.	.	.	.	.	.	.	G	9.342	1.063255	0.20067	.	.	ENSG00000179826	ENST00000396275;ENST00000531264	T;T	0.23754	1.89;4.3	2.0	-3.99	0.04069	.	2.282080	0.01159	N	0.006604	T	0.13329	0.0323	N	0.08118	0	0.09310	N	1	P	0.44380	0.834	B	0.40165	0.321	T	0.12967	-1.0527	10	0.45353	T	0.12	.	6.006	0.19547	0.152:0.5806:0.2674:0.0	.	18	Q96LB0	MRGX3_HUMAN	H	18	ENSP00000379571:R18H;ENSP00000436242:R18H	ENSP00000379571:R18H	R	+	2	0	MRGPRX3	18115378	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.351000	0.02622	-1.964000	0.01012	-1.485000	0.00982	CGT		0.542	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031		53	203	0	0	0	1	0	53	203				
TECTA	7007	broad.mit.edu	37	11	120980195	120980195	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:120980195C>A	ENST00000392793.1	+	4	745	c.474C>A	c.(472-474)agC>agA	p.S158R	TECTA_ENST00000264037.2_Missense_Mutation_p.S158R			O75443	TECTA_HUMAN	tectorin alpha	158	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				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)		ATGGAGGCAGCAGCACCACAC	0.428																																						ENST00000392793.1																		TECTA/TBCEL(2)	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.(472-474)agC>agA		tectorin alpha							94.0	92.0	93.0					11																	120980195		2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120980195C>A	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.474C>A	11.37:g.120980195C>A	ENSP00000376543:p.Ser158Arg					TECTA_ENST00000264037.2_Missense_Mutation_p.S158R	p.S158R			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	4	745	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	158			NIDO.			Missense_Mutation	SNP	ENST00000392793.1	37	c.474C>A	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.790143	0.50102	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.37235	1.21;1.21	5.42	5.42	0.78866	Nidogen, extracellular domain (2);	0.000000	0.85682	D	0.000000	T	0.51007	0.1649	L	0.31526	0.94	0.46521	D	0.999088	D	0.71674	0.998	D	0.78314	0.991	T	0.54091	-0.8345	10	0.87932	D	0	.	19.2155	0.93776	0.0:1.0:0.0:0.0	.	158	O75443	TECTA_HUMAN	R	158	ENSP00000376543:S158R;ENSP00000264037:S158R	ENSP00000264037:S158R	S	+	3	2	TECTA	120485405	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.819000	0.55686	2.553000	0.86117	0.655000	0.94253	AGC		0.428	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		12	58	1	0	5.50884e-06	1	6.17246e-06	12	58				
POLR1C	9533	broad.mit.edu	37	6	43488956	43488956	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:43488956T>A	ENST00000372389.3	+	9	1047	c.959T>A	c.(958-960)gTg>gAg	p.V320E	POLR1C_ENST00000372344.2_Missense_Mutation_p.V270E|RP3-337H4.9_ENST00000607571.1_RNA|POLR1C_ENST00000304004.3_Intron	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide C, 30kDa	320					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			CCACCAGATGTGCTGGTGAGT	0.507																																						ENST00000372389.3																			0				kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5						c.(958-960)gTg>gAg		polymerase (RNA) I polypeptide C, 30kDa							115.0	112.0	113.0					6																	43488956		2203	4300	6503	SO:0001583	missense	9533				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity	g.chr6:43488956T>A	AF008442	CCDS4901.1	6p21.1	2013-01-21			ENSG00000171453	ENSG00000171453		"""RNA polymerase subunits"""	20194	protein-coding gene	gene with protein product		610060				11042152, 12446911	Standard	NM_203290		Approved	RPA40, RPA39, RPA5, RPAC1	uc003ovn.3	O15160	OTTHUMG00000014739	ENST00000372389.3:c.959T>A	6.37:g.43488956T>A	ENSP00000361465:p.Val320Glu					POLR1C_ENST00000372344.2_Missense_Mutation_p.V270E|POLR1C_ENST00000304004.3_Intron	p.V320E	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)		9	1047	+	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		320					O75395|Q5JTE3	Missense_Mutation	SNP	ENST00000372389.3	37	c.959T>A	CCDS4901.1	.	.	.	.	.	.	.	.	.	.	T	12.86	2.065925	0.36470	.	.	ENSG00000171453	ENST00000372389;ENST00000372373;ENST00000372344	T;T	0.80304	-1.36;-1.36	5.09	5.09	0.68999	DNA-directed RNA polymerase, RpoA/D/Rpb3-type (1);DNA-directed RNA polymerase, dimerisation (1);DNA-directed RNA polymerase, RBP11-like (1);	0.195678	0.44483	D	0.000447	T	0.47173	0.1431	N	0.14661	0.345	0.80722	D	1	B	0.20368	0.044	B	0.26864	0.074	T	0.50767	-0.8789	10	0.02654	T	1	-7.4836	14.8517	0.70300	0.0:0.0:0.0:1.0	.	320	O15160	RPAC1_HUMAN	E	320;184;270	ENSP00000361465:V320E;ENSP00000361419:V270E	ENSP00000361419:V270E	V	+	2	0	POLR1C	43596934	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.561000	0.82288	1.912000	0.55364	0.477000	0.44152	GTG		0.507	POLR1C-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040652.3	NM_004875		23	97	0	0	0	1	0	23	97				
DNAH10	196385	broad.mit.edu	37	12	124377897	124377897	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:124377897T>G	ENST00000409039.3	+	52	8784	c.8759T>G	c.(8758-8760)gTg>gGg	p.V2920G		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2920	AAA 4. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAGTACTTCGTGAACAAAAGT	0.542																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(8758-8760)gTg>gGg		dynein, axonemal, heavy chain 10							75.0	80.0	78.0					12																	124377897		2062	4217	6279	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124377897T>G	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.8759T>G	12.37:g.124377897T>G	ENSP00000386770:p.Val2920Gly						p.V2920G	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	52	8784	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		2920			AAA 4 (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.8759T>G	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	T	24.1	4.491002	0.84962	.	.	ENSG00000197653	ENST00000409039	T	0.49432	0.78	4.7	4.7	0.59300	Dynein heavy chain, P-loop containing D4 domain (1);	3.717170	0.01786	U	0.032011	T	0.82010	0.4944	H	0.96048	3.76	0.80722	D	1	D	0.71674	0.998	D	0.75020	0.985	T	0.68300	-0.5445	10	0.87932	D	0	.	14.6227	0.68597	0.0:0.0:0.0:1.0	.	2920	Q8IVF4	DYH10_HUMAN	G	2920	ENSP00000386770:V2920G	ENSP00000386770:V2920G	V	+	2	0	DNAH10	122943850	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.762000	0.85270	2.118000	0.64928	0.459000	0.35465	GTG		0.542	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			27	85	0	0	0	1	0	27	85				
AVEN	57099	broad.mit.edu	37	15	34295412	34295412	+	Splice_Site	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr15:34295412T>A	ENST00000306730.3	-	2	397		c.e2-2		CHRM5_ENST00000383263.5_Intron	NM_020371.2	NP_065104.1	Q9NQS1	AVEN_HUMAN	apoptosis, caspase activation inhibitor						apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	intracellular (GO:0005622)|membrane (GO:0016020)				cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	7		all_lung(180;1.78e-08)		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)		ATCTTCAACCTGCAATCATTA	0.363																																						ENST00000306730.3																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	7						c.e2-2		apoptosis, caspase activation inhibitor							61.0	55.0	57.0					15																	34295412		2201	4298	6499	SO:0001630	splice_region_variant	57099				anti-apoptosis|apoptosis	endomembrane system|intracellular|membrane|membrane fraction	protein binding	g.chr15:34295412T>A	AF283508	CCDS10030.1	15q13.1	2011-10-19		2008-07-07	ENSG00000169857	ENSG00000169857			13509	protein-coding gene	gene with protein product	"""cell death regulator aven"", ""programmed cell death 12"""	605265				10949025	Standard	XM_005254563		Approved	PDCD12	uc001zhj.3	Q9NQS1	OTTHUMG00000129371	ENST00000306730.3:c.268-2A>T	15.37:g.34295412T>A						CHRM5_ENST00000383263.5_Intron		NM_020371.2	NP_065104.1	Q9NQS1	AVEN_HUMAN		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)	2	397	-		all_lung(180;1.78e-08)							Splice_Site	SNP	ENST00000306730.3	37		CCDS10030.1	.	.	.	.	.	.	.	.	.	.	T	19.28	3.796597	0.70567	.	.	ENSG00000169857	ENST00000306730	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8872	0.63714	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	AVEN	32082704	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.323000	0.65858	2.152000	0.67230	0.477000	0.44152	.		0.363	AVEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251523.2	NM_020371	Intron	10	38	0	0	0	1	0	10	38				
FPR1	2357	broad.mit.edu	37	19	52249312	52249312	+	Silent	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:52249312C>A	ENST00000595042.1	-	3	1077	c.936G>T	c.(934-936)ctG>ctT	p.L312L	FPR1_ENST00000304748.4_Silent_p.L312L	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	312					activation of MAPK activity (GO:0000187)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|nitric oxide mediated signal transduction (GO:0007263)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)|receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GGGCGTGGATCAGCCTCTCCC	0.562																																						ENST00000595042.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20						c.(934-936)ctG>ctT		formyl peptide receptor 1	Nedocromil(DB00716)						110.0	99.0	103.0					19																	52249312		2203	4300	6503	SO:0001819	synonymous_variant	2357				activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52249312C>A	M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051		"""GPCR / Class A : Formyl peptide receptors"""	3826	protein-coding gene	gene with protein product		136537				2161213, 12595898	Standard	NM_001193306		Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.936G>T	19.37:g.52249312C>A						FPR1_ENST00000304748.4_Silent_p.L312L	p.L312L	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	3	1077	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	312					Q14939|Q7Z6A4|Q86U52|Q9NS48	Silent	SNP	ENST00000595042.1	37	c.936G>T	CCDS12839.1																																																																																				0.562	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1	NM_002029		28	102	1	0	8.24728e-16	1	1.12291e-15	28	102				
COL22A1	169044	broad.mit.edu	37	8	139768059	139768059	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:139768059G>A	ENST00000303045.6	-	19	2362	c.1916C>T	c.(1915-1917)cCt>cTt	p.P639L	COL22A1_ENST00000435777.1_Missense_Mutation_p.P639L	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	639	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)			TGGCCCCGCAGGTCCCACGTC	0.557										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.(1915-1917)cCt>cTt		collagen, type XXII, alpha 1							159.0	122.0	134.0					8																	139768059		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139768059G>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.1916C>T	8.37:g.139768059G>A	ENSP00000303153:p.Pro639Leu	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Missense_Mutation_p.P639L	p.P639L	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		19	2362	-	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)		639			Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.1916C>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	10.57	1.388161	0.25118	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.96885	-3.22;-4.16	4.83	4.83	0.62350	.	0.359232	0.19884	U	0.103883	D	0.94401	0.8199	L	0.39898	1.24	0.41092	D	0.985608	D	0.58620	0.983	P	0.51016	0.656	D	0.91890	0.5523	10	0.09590	T	0.72	.	13.2905	0.60269	0.0:0.0:1.0:0.0	.	639	Q8NFW1	COMA1_HUMAN	L	639;639;352	ENSP00000303153:P639L;ENSP00000387655:P639L	ENSP00000303153:P639L	P	-	2	0	COL22A1	139837241	0.998000	0.40836	0.967000	0.41034	0.235000	0.25334	4.145000	0.58065	2.503000	0.84419	0.491000	0.48974	CCT		0.557	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		14	123	0	0	0	1	0	14	123				
UBXN6	80700	broad.mit.edu	37	19	4447568	4447568	+	Silent	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:4447568C>T	ENST00000301281.6	-	6	718	c.594G>A	c.(592-594)aaG>aaA	p.K198K	UBXN6_ENST00000394765.3_Silent_p.K145K|CTB-50L17.7_ENST00000588798.1_RNA|MIR4746_ENST00000579802.1_RNA	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	198	PUB.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						TGTTCTGCAGCTTGATCTTCC	0.667																																						ENST00000301281.6																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						c.(592-594)aaG>aaA		UBX domain protein 6							219.0	179.0	192.0					19																	4447568		2203	4300	6503	SO:0001819	synonymous_variant	80700					microtubule organizing center|nucleus	protein binding	g.chr19:4447568C>T	AF272893	CCDS12129.1, CCDS54201.1	19p13	2008-07-25	2008-07-25	2008-07-25		ENSG00000167671		"""UBX domain containing"""	14928	protein-coding gene	gene with protein product		611946	"""UBX domain-containing 1"", ""UBX domain containing 1"""	UBXD1		11342112	Standard	NM_025241		Approved	UBXDC2	uc002man.2	Q9BZV1		ENST00000301281.6:c.594G>A	19.37:g.4447568C>T						UBXN6_ENST00000394765.3_Silent_p.K145K|CTB-50L17.7_ENST00000588798.1_RNA	p.K198K	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN			6	718	-			198			PUB.		D6W626|Q96AH1|Q96IK9|Q9BZV0	Silent	SNP	ENST00000301281.6	37	c.594G>A	CCDS12129.1																																																																																				0.667	UBXN6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458447.3	NM_025241		39	54	0	0	0	1	0	39	54				
RPP38	10557	broad.mit.edu	37	10	15145809	15145809	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:15145809G>A	ENST00000378197.4	+	3	1010	c.496G>A	c.(496-498)Gag>Aag	p.E166K	RPP38_ENST00000378202.5_Missense_Mutation_p.E166K|NMT2_ENST00000466201.1_Intron|RPP38_ENST00000451677.1_Intron	NM_183005.4	NP_892117.1	P78345	RPP38_HUMAN	ribonuclease P/MRP 38kDa subunit	166					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	ribonuclease P activity (GO:0004526)			breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)	8						CCGGCTCAGTGAGAGAATCGC	0.502																																					GBM(118;1591 1611 9649 34378 50720)	ENST00000378197.4																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)	8						c.(496-498)Gag>Aag		ribonuclease P/MRP 38kDa subunit							83.0	79.0	80.0					10																	15145809		2203	4300	6503	SO:0001583	missense	10557				tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	g.chr10:15145809G>A	U77664	CCDS7108.1	10p13	2012-05-21			ENSG00000152464	ENSG00000152464			30329	protein-coding gene	gene with protein product		606116				9037013, 9630247	Standard	NM_183005		Approved		uc001inx.5	P78345	OTTHUMG00000017728	ENST00000378197.4:c.496G>A	10.37:g.15145809G>A	ENSP00000367439:p.Glu166Lys					RPP38_ENST00000378202.5_Missense_Mutation_p.E166K|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000466201.1_Intron	p.E166K	NM_183005.4	NP_892117.1	P78345	RPP38_HUMAN			3	1010	+			166					B3KPY0|D3DRT8|Q53F71|Q8NHS8	Missense_Mutation	SNP	ENST00000378197.4	37	c.496G>A	CCDS7108.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.731864	0.48939	.	.	ENSG00000152464	ENST00000378203;ENST00000378202;ENST00000378197;ENST00000441850	T;T;T;T	0.55930	0.49;0.49;0.49;1.9	5.68	4.75	0.60458	Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.186566	0.45606	D	0.000347	T	0.59905	0.2228	L	0.45137	1.4	0.80722	D	1	P	0.52842	0.956	P	0.55545	0.778	T	0.60125	-0.7324	10	0.42905	T	0.14	-24.0627	16.4166	0.83744	0.0:0.1318:0.8682:0.0	.	166	P78345	RPP38_HUMAN	K	166	ENSP00000367445:E166K;ENSP00000367444:E166K;ENSP00000367439:E166K;ENSP00000402635:E166K	ENSP00000367439:E166K	E	+	1	0	RPP38	15185815	1.000000	0.71417	0.982000	0.44146	0.170000	0.22686	4.088000	0.57678	1.337000	0.45525	0.591000	0.81541	GAG		0.502	RPP38-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046976.1	NM_006414		15	73	0	0	0	1	0	15	73				
SCG2	7857	broad.mit.edu	37	2	224462215	224462215	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:224462215A>G	ENST00000305409.2	-	2	2018	c.1786T>C	c.(1786-1788)Tac>Cac	p.Y596H		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					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(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		TGGTTGAGGTATTCCAGCACT	0.453																																						ENST00000305409.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44						c.(1786-1788)Tac>Cac		secretogranin II							148.0	146.0	147.0					2																	224462215		2203	4300	6503	SO:0001583	missense	7857				angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	g.chr2:224462215A>G	M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"""secretoneurin"", ""chromogranin C"""	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.1786T>C	2.37:g.224462215A>G	ENSP00000304133:p.Tyr596His						p.Y596H	NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)	2	2018	-		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)	596					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000305409.2	37	c.1786T>C	CCDS2457.1	.	.	.	.	.	.	.	.	.	.	A	15.70	2.911487	0.52439	.	.	ENSG00000171951	ENST00000305409;ENST00000450330	T	0.02015	4.5	5.35	5.35	0.76521	.	0.231801	0.37715	N	0.001961	T	0.09555	0.0235	M	0.62723	1.935	0.42281	D	0.99209	D	0.58620	0.983	P	0.60541	0.876	T	0.00967	-1.1497	10	0.87932	D	0	.	15.3346	0.74241	1.0:0.0:0.0:0.0	.	596	P13521	SCG2_HUMAN	H	596;456	ENSP00000304133:Y596H	ENSP00000304133:Y596H	Y	-	1	0	SCG2	224170459	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.880000	0.56145	2.035000	0.60131	0.477000	0.44152	TAC		0.453	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	NM_003469		29	146	0	0	0	1	0	29	146				
LDB2	9079	broad.mit.edu	37	4	16760850	16760850	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:16760850T>A	ENST00000304523.5	-	2	489	c.166A>T	c.(166-168)Act>Tct	p.T56S	LDB2_ENST00000515064.1_Missense_Mutation_p.T56S|LDB2_ENST00000441778.2_Missense_Mutation_p.T56S|LDB2_ENST00000502640.1_Missense_Mutation_p.T56S	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	56					epithelial structure maintenance (GO:0010669)|hair follicle development (GO:0001942)|positive regulation of cellular component biogenesis (GO:0044089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell maintenance (GO:0035019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	LIM domain binding (GO:0030274)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						AAAAATTCAGTGGCAAAGGCG	0.373																																						ENST00000502640.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						c.(166-168)Act>Tct		LIM domain binding 2							97.0	94.0	95.0					4																	16760850		2203	4300	6503	SO:0001583	missense	9079						LIM domain binding|transcription cofactor activity	g.chr4:16760850T>A	AF068651	CCDS3420.1, CCDS47031.1	4p16	2008-08-01			ENSG00000169744	ENSG00000169744			6533	protein-coding gene	gene with protein product		603450				9853615, 9880598, 10861853	Standard	NM_001290		Approved	CLIM1, LDB1	uc003goz.3	O43679	OTTHUMG00000048212	ENST00000304523.5:c.166A>T	4.37:g.16760850T>A	ENSP00000306772:p.Thr56Ser					LDB2_ENST00000304523.5_Missense_Mutation_p.T56S|LDB2_ENST00000515064.1_Missense_Mutation_p.T56S|LDB2_ENST00000441778.2_Missense_Mutation_p.T56S	p.T56S			O43679	LDB2_HUMAN			2	314	-			56					O60619|O75480	Missense_Mutation	SNP	ENST00000304523.5	37	c.166A>T	CCDS3420.1	.	.	.	.	.	.	.	.	.	.	T	14.33	2.503778	0.44558	.	.	ENSG00000169744	ENST00000515064;ENST00000441778;ENST00000304523;ENST00000502640;ENST00000506732	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.64427	0.2597	L	0.38175	1.15	0.80722	D	1	D;B;B;B;D	0.76494	0.979;0.232;0.178;0.097;0.999	D;B;B;B;D	0.85130	0.973;0.145;0.155;0.09;0.997	T	0.58059	-0.7703	9	0.07813	T	0.8	-8.9524	15.6296	0.76893	0.0:0.0:0.0:1.0	.	22;56;56;56;56	B7Z6D0;E9PFI4;G5E9Y7;O43679-2;O43679	.;.;.;.;LDB2_HUMAN	S	56;56;56;56;32	.	ENSP00000306772:T56S	T	-	1	0	LDB2	16369948	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.285000	0.76669	0.533000	0.62120	ACT		0.373	LDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250321.2			20	55	0	0	0	1	0	20	55				
HEPACAM	220296	broad.mit.edu	37	11	124793733	124793733	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:124793733C>G	ENST00000298251.4	-	3	1006	c.601G>C	c.(601-603)Gtg>Ctg	p.V201L		NM_152722.4	NP_689935.2			hepatic and glial cell adhesion molecule											breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		ATGGTGAGCACCTTTTGGTCG	0.592																																						ENST00000298251.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(601-603)Gtg>Ctg		hepatic and glial cell adhesion molecule							126.0	92.0	104.0					11																	124793733		2201	4299	6500	SO:0001583	missense	220296				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane		g.chr11:124793733C>G	AK098396	CCDS8456.1	11q24.2	2013-01-29	2011-02-11		ENSG00000165478	ENSG00000165478		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26361	protein-coding gene	gene with protein product	"""glial cell adhesion molecule"""	611642	"""hepatocyte cell adhesion molecule"""			15885354, 15917256	Standard	NM_152722		Approved	FLJ25530, hepaCAM, GLIALCAM	uc001qbk.3	Q14CZ8	OTTHUMG00000165938	ENST00000298251.4:c.601G>C	11.37:g.124793733C>G	ENSP00000298251:p.Val201Leu						p.V201L	NM_152722.4	NP_689935.2	Q14CZ8	HECAM_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)	3	1006	-	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	201			Ig-like C2-type.			Missense_Mutation	SNP	ENST00000298251.4	37	c.601G>C	CCDS8456.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.975730	0.53720	.	.	ENSG00000165478	ENST00000298251;ENST00000374961	T	0.25912	1.77	5.56	5.56	0.83823	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.246149	0.40385	N	0.001114	T	0.22627	0.0546	L	0.38838	1.175	0.45342	D	0.998332	B;B	0.21071	0.036;0.051	B;B	0.21360	0.034;0.018	T	0.02385	-1.1167	10	0.52906	T	0.07	-11.7386	13.2398	0.59989	0.0:0.9172:0.0:0.0828	.	201;201	Q14CZ8-2;Q14CZ8	.;HECAM_HUMAN	L	201	ENSP00000298251:V201L	ENSP00000298251:V201L	V	-	1	0	HEPACAM	124298943	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.220000	0.51207	2.605000	0.88082	0.655000	0.94253	GTG		0.592	HEPACAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387125.1	NM_152722		10	50	0	0	0	1	0	10	50				
ACE2	59272	broad.mit.edu	37	X	15619008	15619008	+	Silent	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chrX:15619008G>A	ENST00000252519.3	-	1	129	c.27C>T	c.(25-27)ctC>ctT	p.L9L	ACE2_ENST00000427411.1_Silent_p.L9L|GS1-594A7.3_ENST00000421585.1_RNA			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	9					angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	CAACAAGGCTGAGAAGGAGCC	0.468																																						ENST00000427411.1																			0				endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32						c.(25-27)ctC>ctT		angiotensin I converting enzyme 2	Moexipril(DB00691)						99.0	79.0	86.0					X																	15619008		2203	4300	6503	SO:0001819	synonymous_variant	59272				angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding	g.chrX:15619008G>A	AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	300335	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"""			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.27C>T	X.37:g.15619008G>A						ACE2_ENST00000252519.3_Silent_p.L9L	p.L9L	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN			2	243	-	Hepatocellular(33;0.183)		9					C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Silent	SNP	ENST00000252519.3	37	c.27C>T	CCDS14169.1																																																																																				0.468	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1			25	37	0	0	0	1	0	25	37				
RRH	10692	broad.mit.edu	37	4	110757205	110757205	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:110757205G>T	ENST00000317735.4	+	4	474	c.440G>T	c.(439-441)gGa>gTa	p.G147V		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	147					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		TTGATTCTGGGAGCCTGGATC	0.453																																						ENST00000317735.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12						c.(439-441)gGa>gTa		retinal pigment epithelium-derived rhodopsin homolog							205.0	187.0	193.0					4																	110757205		2203	4300	6503	SO:0001583	missense	10692				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr4:110757205G>T	AF012270	CCDS3687.1	4q25	2012-08-08			ENSG00000180245	ENSG00000180245		"""GPCR / Class A : Opsin receptors"""	10450	protein-coding gene	gene with protein product	"""peropsin"""	605224				9275222	Standard	NM_006583		Approved	peropsin	uc003hzv.3	O14718	OTTHUMG00000132045	ENST00000317735.4:c.440G>T	4.37:g.110757205G>T	ENSP00000314992:p.Gly147Val						p.G147V	NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00109)	4	474	+		Hepatocellular(203;0.217)	147					A1A4V2|Q7RTS4	Missense_Mutation	SNP	ENST00000317735.4	37	c.440G>T	CCDS3687.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.109958	0.37242	.	.	ENSG00000180245	ENST00000317735	T	0.36520	1.25	5.59	4.7	0.59300	GPCR, rhodopsin-like superfamily (1);	0.094575	0.64402	D	0.000001	T	0.23846	0.0577	N	0.17800	0.525	0.80722	D	1	B	0.31026	0.304	B	0.26310	0.068	T	0.06391	-1.0829	10	0.51188	T	0.08	.	13.1491	0.59480	0.0:0.3721:0.6279:0.0	.	147	O14718	OPSX_HUMAN	V	147	ENSP00000314992:G147V	ENSP00000314992:G147V	G	+	2	0	RRH	110976654	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	6.343000	0.72986	2.788000	0.95919	0.557000	0.71058	GGA		0.453	RRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255066.1	NM_006583		50	185	1	0	1.30409e-13	1	1.72686e-13	50	185				
PI4KA	5297	broad.mit.edu	37	22	21106021	21106021	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr22:21106021C>A	ENST00000572273.1	-	26	3066	c.2836G>T	c.(2836-2838)Ggg>Tgg	p.G946W	PI4KA_ENST00000466162.1_5'Flank|PI4KA_ENST00000255882.6_Missense_Mutation_p.G1004W			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	946					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			AGCACAGTCCCGCTCCAGAGC	0.607																																					GBM(136;1332 1831 3115 23601 50806)	ENST00000255882.6																			0				breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79						c.(3010-3012)Ggg>Tgg		phosphatidylinositol 4-kinase, catalytic, alpha							116.0	91.0	100.0					22																	21106021		2203	4300	6503	SO:0001583	missense	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21106021C>A	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.2836G>T	22.37:g.21106021C>A	ENSP00000458238:p.Gly946Trp					PI4KA_ENST00000572273.1_Missense_Mutation_p.G946W	p.G1004W	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		26	3096	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	946					Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37	c.3010G>T		.	.	.	.	.	.	.	.	.	.	C	28.4	4.919968	0.92249	.	.	ENSG00000241973	ENST00000255882	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.77280	0.4107	L	0.58101	1.795	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.77694	-0.2492	9	0.66056	D	0.02	-32.167	19.4202	0.94719	0.0:1.0:0.0:0.0	.	946	P42356	PI4KA_HUMAN	W	946	.	ENSP00000255882:G946W	G	-	1	0	PI4KA	19436021	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.438000	0.80431	2.825000	0.97269	0.655000	0.94253	GGG		0.607	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		13	45	1	0	0.0202918	1	0.0206394	13	45				
TTN	7273	broad.mit.edu	37	2	179633560	179633560	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:179633560C>A	ENST00000591111.1	-	38	9227	c.9003G>T	c.(9001-9003)tgG>tgT	p.W3001C	TTN_ENST00000589042.1_Missense_Mutation_p.W3001C|TTN_ENST00000359218.5_Missense_Mutation_p.W2955C|TTN_ENST00000460472.2_Missense_Mutation_p.W2955C|TTN_ENST00000342992.6_Missense_Mutation_p.W3001C|TTN_ENST00000360870.5_Missense_Mutation_p.W3001C|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W2955C			Q8WZ42	TITIN_HUMAN	titin	13333	Ig-like 17.				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)			CATTCTTTAACCATTTGTAAG	0.393																																						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.(9001-9003)tgG>tgT		titin							176.0	157.0	163.0					2																	179633560		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179633560C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.9003G>T	2.37:g.179633560C>A	ENSP00000465570:p.Trp3001Cys					TTN_ENST00000460472.2_Missense_Mutation_p.W2955C|TTN_ENST00000359218.5_Missense_Mutation_p.W2955C|TTN_ENST00000342992.6_Missense_Mutation_p.W3001C|TTN_ENST00000360870.5_Missense_Mutation_p.W3001C|TTN_ENST00000342175.6_Missense_Mutation_p.W2955C|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.W3001C	p.W3001C	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)		38	9227	-			2740			Ig-like 17.		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.9003G>T		.	.	.	.	.	.	.	.	.	.	C	14.67	2.603639	0.46423	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	D;D;D;D;D	0.96300	-3.97;-3.97;-3.97;-3.97;-3.97	5.56	5.56	0.83823	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.98770	0.9586	H	0.94423	3.535	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	D	0.99312	1.0904	9	0.87932	D	0	.	19.8944	0.96949	0.0:1.0:0.0:0.0	.	2955;2955;2955;3001;3001	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	C	3001;2955;2955;2955;2955;3001	ENSP00000343764:W3001C;ENSP00000434586:W2955C;ENSP00000340554:W2955C;ENSP00000352154:W2955C;ENSP00000354117:W3001C	ENSP00000340554:W2955C	W	-	3	0	TTN	179341805	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.445000	0.80570	2.779000	0.95612	0.563000	0.77884	TGG		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		18	82	1	0	9.16793e-09	1	1.10072e-08	18	82				
ODF4	146852	broad.mit.edu	37	17	8248781	8248781	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:8248781T>C	ENST00000328248.2	+	2	763	c.575T>C	c.(574-576)cTa>cCa	p.L192P	ODF4_ENST00000584943.1_Missense_Mutation_p.L77P	NM_153007.4	NP_694552.2	Q2M2E3	ODFP4_HUMAN	outer dense fiber of sperm tails 4	192					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|outer dense fiber (GO:0001520)				endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						GTGCTTATCCTATACTTCACC	0.537																																						ENST00000328248.2																			0				endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						c.(574-576)cTa>cCa		outer dense fiber of sperm tails 4							201.0	180.0	187.0					17																	8248781		2203	4300	6503	SO:0001583	missense	146852				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr17:8248781T>C	AB081120	CCDS11140.1	17p13	2010-09-27			ENSG00000184650	ENSG00000184650			19056	protein-coding gene	gene with protein product	"""cancer/testis antigen 136"""	610097					Standard	NM_153007		Approved	OPPO1, CT136	uc002gle.1	Q2M2E3	OTTHUMG00000108190	ENST00000328248.2:c.575T>C	17.37:g.8248781T>C	ENSP00000331086:p.Leu192Pro					ODF4_ENST00000584943.1_Missense_Mutation_p.L77P	p.L192P	NM_153007.4	NP_694552.2	Q2M2E3	ODFP4_HUMAN			2	763	+			192					Q8J021	Missense_Mutation	SNP	ENST00000328248.2	37	c.575T>C	CCDS11140.1	.	.	.	.	.	.	.	.	.	.	T	2.153	-0.394034	0.04899	.	.	ENSG00000184650	ENST00000328248	T	0.30714	1.52	5.13	5.13	0.70059	.	0.000000	0.36740	N	0.002429	T	0.41858	0.1177	L	0.29908	0.895	0.23769	N	0.996898	D	0.89917	1.0	D	0.87578	0.998	T	0.24154	-1.0168	10	0.87932	D	0	-8.402	11.2394	0.48960	0.0:0.0:0.0:1.0	.	192	Q2M2E3	ODFP4_HUMAN	P	192	ENSP00000331086:L192P	ENSP00000331086:L192P	L	+	2	0	ODF4	8189506	0.030000	0.19436	0.028000	0.17463	0.034000	0.12701	3.286000	0.51724	2.151000	0.67156	0.460000	0.39030	CTA		0.537	ODF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226996.1			41	178	0	0	0	1	0	41	178				
COL3A1	1281	broad.mit.edu	37	2	189870120	189870120	+	Silent	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:189870120T>A	ENST00000304636.3	+	41	3146	c.2976T>A	c.(2974-2976)cgT>cgA	p.R992R	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	992	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	GTGGAGAACGTGGTCCCCCTG	0.453																																						ENST00000304636.3																			0				NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126						c.(2974-2976)cgT>cgA		collagen, type III, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						107.0	111.0	110.0					2																	189870120		2203	4300	6503	SO:0001819	synonymous_variant	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189870120T>A	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.2976T>A	2.37:g.189870120T>A						COL3A1_ENST00000317840.5_Intron	p.R992R	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		41	3146	+			992			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Silent	SNP	ENST00000304636.3	37	c.2976T>A	CCDS2297.1																																																																																				0.453	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		27	111	0	0	0	1	0	27	111				
GPR126	57211	broad.mit.edu	37	6	142711416	142711416	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:142711416C>T	ENST00000230173.6	+	7	1720	c.1244C>T	c.(1243-1245)tCc>tTc	p.S415F	GPR126_ENST00000296932.8_Missense_Mutation_p.S387F|GPR126_ENST00000367609.3_Missense_Mutation_p.S415F|GPR126_ENST00000367608.2_Missense_Mutation_p.S387F	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	415					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		TATAGAATATCCGTAGTGATT	0.313																																						ENST00000230173.6																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(1243-1245)tCc>tTc		G protein-coupled receptor 126							96.0	94.0	95.0					6																	142711416		1838	4085	5923	SO:0001583	missense	57211				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:142711416C>T	AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.1244C>T	6.37:g.142711416C>T	ENSP00000230173:p.Ser415Phe					GPR126_ENST00000367609.3_Missense_Mutation_p.S415F|GPR126_ENST00000296932.8_Missense_Mutation_p.S387F|GPR126_ENST00000367608.2_Missense_Mutation_p.S387F	p.S415F	NM_020455.5	NP_065188.4	Q86SQ4	GP126_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)	7	1720	+	Breast(32;0.176)		415					Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	ENST00000230173.6	37	c.1244C>T	CCDS47490.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.665428	0.47677	.	.	ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	5.46	4.6	0.57074	.	0.211649	0.33753	N	0.004600	T	0.33644	0.0870	L	0.53249	1.67	0.35056	D	0.761137	B;B;B;B	0.25809	0.135;0.135;0.135;0.083	B;B;B;B	0.27608	0.081;0.081;0.081;0.037	T	0.40664	-0.9551	10	0.87932	D	0	.	11.914	0.52755	0.0:0.9195:0.0:0.0805	.	387;415;387;415	Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4	.;.;.;GP126_HUMAN	F	415;387;387;415	ENSP00000230173:S415F;ENSP00000356580:S387F;ENSP00000296932:S387F;ENSP00000356581:S415F	ENSP00000230173:S415F	S	+	2	0	GPR126	142753109	0.978000	0.34361	0.846000	0.33378	0.885000	0.51271	2.382000	0.44345	1.310000	0.45006	0.655000	0.94253	TCC		0.313	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2			50	60	0	0	0	1	0	50	60				
HFM1	164045	broad.mit.edu	37	1	91728095	91728095	+	Silent	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:91728095G>A	ENST00000370425.3	-	37	4127	c.4029C>T	c.(4027-4029)ccC>ccT	p.P1343P	HFM1_ENST00000370424.3_Silent_p.P1022P|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Missense_Mutation_p.P545L|Y_RNA_ENST00000384090.1_RNA	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1343					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CACTGAACTTGGGCATAGCAG	0.318																																						ENST00000294696.5																			0				breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(1633-1635)cCa>cTa		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							98.0	97.0	97.0					1																	91728095		2203	4300	6503	SO:0001819	synonymous_variant	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91728095G>A	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.4029C>T	1.37:g.91728095G>A						HFM1_ENST00000370424.3_Silent_p.P1022P|HFM1_ENST00000370425.3_Silent_p.P1343P|HFM1_ENST00000462405.1_5'UTR	p.P545L			A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	36	4036	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	0			Helicase C-terminal.		B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.1634C>T	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	G	13.06	2.125665	0.37533	.	.	ENSG00000162669	ENST00000294696;ENST00000430465	T;T	0.57595	0.64;0.39	5.15	1.0	0.19881	.	0.745479	0.12700	N	0.446442	T	0.26011	0.0634	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.30208	-0.9986	7	0.87932	D	0	.	2.006	0.03478	0.1687:0.1577:0.5115:0.1621	.	.	.	.	L	545;555	ENSP00000294696:P545L;ENSP00000387661:P555L	ENSP00000294696:P545L	P	-	2	0	HFM1	91500683	0.764000	0.28473	0.005000	0.12908	0.945000	0.59286	1.137000	0.31479	0.737000	0.32582	0.579000	0.79373	CCA		0.318	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		25	125	0	0	0	1	0	25	125				
COL22A1	169044	broad.mit.edu	37	8	139701189	139701189	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:139701189G>T	ENST00000303045.6	-	37	3279	c.2833C>A	c.(2833-2835)Cca>Aca	p.P945T	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.P945T	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	945	Collagen-like 8.|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)			TCTTTCCCTGGGGTGCCTCTG	0.522										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.(2833-2835)Cca>Aca		collagen, type XXII, alpha 1							138.0	122.0	127.0					8																	139701189		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139701189G>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.2833C>A	8.37:g.139701189G>T	ENSP00000303153:p.Pro945Thr	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Missense_Mutation_p.P945T|COL22A1_ENST00000341807.4_5'UTR	p.P945T	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		37	3279	-	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)		945			Collagen-like 8.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.2833C>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.855551	0.32791	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.96651	-4.08;-3.16	3.85	3.85	0.44370	.	0.000000	0.47852	U	0.000210	D	0.97445	0.9164	M	0.74467	2.265	0.36022	D	0.838786	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.992	D	0.99289	1.0898	10	0.52906	T	0.07	.	11.47	0.50264	0.0:0.0:1.0:0.0	.	945;945	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	T	945;945;658	ENSP00000303153:P945T;ENSP00000387655:P945T	ENSP00000303153:P945T	P	-	1	0	COL22A1	139770371	1.000000	0.71417	1.000000	0.80357	0.571000	0.35966	2.710000	0.47169	2.150000	0.67090	0.542000	0.68232	CCA		0.522	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		28	119	1	0	7.01153e-11	1	8.85909e-11	28	119				
ZNF208	7757	broad.mit.edu	37	19	22157133	22157133	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:22157133C>A	ENST00000397126.4	-	4	851	c.703G>T	c.(703-705)Ggc>Tgc	p.G235C	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	235					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AAGGCTTTGCCACATTCTTTA	0.378																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(703-705)Ggc>Tgc		zinc finger protein 208							45.0	49.0	48.0					19																	22157133		2091	4232	6323	SO:0001583	missense	7757							g.chr19:22157133C>A	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.703G>T	19.37:g.22157133C>A	ENSP00000380315:p.Gly235Cys					ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	p.G235C	NM_007153.3	NP_009084.2					4	851	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.703G>T	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	9.912	1.209713	0.22289	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.22336	1.96	2.93	1.86	0.25419	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40067	0.1102	.	.	.	0.29478	N	0.856588	D	0.89917	1.0	D	0.65874	0.939	T	0.27872	-1.0061	8	0.87932	D	0	.	8.7314	0.34501	0.0:0.8757:0.0:0.1243	.	235	O43345	ZN208_HUMAN	C	235	ENSP00000380315:G235C	ENSP00000380315:G235C	G	-	1	0	ZNF208	21948973	0.922000	0.31269	0.003000	0.11579	0.095000	0.18619	1.519000	0.35888	0.215000	0.20761	0.313000	0.20887	GGC		0.378	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		45	64	1	0	3.54909e-21	1	5.19905e-21	45	64				
DNM1P46	196968	broad.mit.edu	37	15	100332036	100332036	+	RNA	SNP	A	A	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr15:100332036A>T	ENST00000341853.1	-	0	2155				AC090825.1_ENST00000408584.1_RNA|RN7SL484P_ENST00000462651.2_RNA	NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										AAGAGGCTGCACTCCACCTCT	0.552																																						ENST00000341853.1																			0																				48.0	47.0	47.0					15																	100332036		876	1991	2867			196968							g.chr15:100332036A>T	AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100332036A>T								NR_003260.1						0	2155	-								Q3ZCN3	RNA	SNP	ENST00000341853.1	37																																																																																						0.552	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1	NR_003260		18	45	0	0	0	1	0	18	45				
OR52A1	23538	broad.mit.edu	37	11	5172787	5172787	+	Silent	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:5172787G>T	ENST00000380367.1	-	2	1230	c.813C>A	c.(811-813)atC>atA	p.I271I	OR52A1_ENST00000328942.1_Silent_p.I271I			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	271					sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATAAGGGGAGATGTGAGACC	0.433																																						ENST00000380367.1																			0				breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19						c.(811-813)atC>atA		olfactory receptor, family 52, subfamily A, member 1							165.0	157.0	160.0					11																	5172787		2201	4298	6499	SO:0001819	synonymous_variant	23538				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr11:5172787G>T	AF154673	CCDS31374.1	11p15.4	2012-08-09			ENSG00000182070	ENSG00000182070		"""GPCR / Class A : Olfactory receptors"""	8318	protein-coding gene	gene with protein product						10512676	Standard	NM_012375		Approved	HPFH1OR	uc010qyy.2	Q9UKL2	OTTHUMG00000066603	ENST00000380367.1:c.813C>A	11.37:g.5172787G>T						OR52A1_ENST00000328942.1_Silent_p.I271I	p.I271I			Q9UKL2	O52A1_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1230	-		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)	271					Q6IF31	Silent	SNP	ENST00000380367.1	37	c.813C>A	CCDS31374.1																																																																																				0.433	OR52A1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142810.2	NM_012375		26	101	1	0	4.47668e-21	1	6.53307e-21	26	101				
PSMG1	8624	broad.mit.edu	37	21	40547564	40547564	+	Silent	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr21:40547564T>A	ENST00000331573.3	-	7	1284	c.819A>T	c.(817-819)ctA>ctT	p.L273L	PSMG1_ENST00000380900.2_Silent_p.L252L	NM_001261824.1|NM_003720.3	NP_001248753.1|NP_003711.1	O95456	PSMG1_HUMAN	proteasome (prosome, macropain) assembly chaperone 1	273					cerebellar granule cell precursor proliferation (GO:0021930)|proteasome assembly (GO:0043248)|proteasome core complex assembly (GO:0080129)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	8		Prostate(19;8.44e-08)				TCAATTTCTTTAGTATCTCAG	0.393											OREG0026220	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000331573.3																			0				autonomic_ganglia(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	8						c.(817-819)ctA>ctT		proteasome (prosome, macropain) assembly chaperone 1							198.0	194.0	195.0					21																	40547564		2203	4300	6503	SO:0001819	synonymous_variant	8624				proteasome assembly	endoplasmic reticulum	protein binding	g.chr21:40547564T>A	AJ006291	CCDS13660.1, CCDS13661.1	21q22.3	2007-10-23	2007-10-23	2007-10-23	ENSG00000183527	ENSG00000183527			3043	protein-coding gene	gene with protein product		605296	"""Down syndrome critical region gene 2"""	DSCR2		10872820, 17189198	Standard	NM_003720		Approved	c21-LRP, LRPC21, PAC1	uc002yxi.4	O95456	OTTHUMG00000066034	ENST00000331573.3:c.819A>T	21.37:g.40547564T>A			OREG0026220	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	894	PSMG1_ENST00000380900.2_Silent_p.L252L	p.L273L	NM_001261824.1|NM_003720.3	NP_001248753.1|NP_003711.1	O95456	PSMG1_HUMAN			7	1284	-		Prostate(19;8.44e-08)	273					B5BUN2|Q6FHA3|Q6FHD3|Q6S713	Silent	SNP	ENST00000331573.3	37	c.819A>T	CCDS13660.1	.	.	.	.	.	.	.	.	.	.	T	9.258	1.042411	0.19748	.	.	ENSG00000183527	ENST00000440607	.	.	.	5.62	3.81	0.43845	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.4561	10.7438	0.46168	0.0:0.8454:0.0:0.1546	.	.	.	.	X	130	.	.	K	-	1	0	PSMG1	39469434	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.355000	0.52262	0.723000	0.32274	-0.248000	0.11899	AAA		0.393	PSMG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141404.2	NM_003720		23	104	0	0	0	1	0	23	104				
C10orf90	118611	broad.mit.edu	37	10	128118392	128118392	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:128118392C>A	ENST00000284694.7	-	7	2045	c.1925G>T	c.(1924-1926)tGc>tTc	p.C642F	C10orf90_ENST00000356858.3_Missense_Mutation_p.C595F|C10orf90_ENST00000480379.1_Missense_Mutation_p.C46F|C10orf90_ENST00000544758.1_Missense_Mutation_p.C739F|C10orf90_ENST00000454341.1_Missense_Mutation_p.C545F	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	642	ALMS motif. {ECO:0000250}.				mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CTCTGAAATGCACCGTTCTTT	0.398																																						ENST00000284694.7																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(1924-1926)tGc>tTc		chromosome 10 open reading frame 90							207.0	185.0	193.0					10																	128118392		2203	4300	6503	SO:0001583	missense	118611							g.chr10:128118392C>A	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.1925G>T	10.37:g.128118392C>A	ENSP00000284694:p.Cys642Phe					C10orf90_ENST00000544758.1_Missense_Mutation_p.C739F|C10orf90_ENST00000454341.1_Missense_Mutation_p.C545F|C10orf90_ENST00000356858.3_Missense_Mutation_p.C595F|C10orf90_ENST00000480379.1_Missense_Mutation_p.C46F	p.C642F	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)	7	2045	-		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)	642					B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	ENST00000284694.7	37	c.1925G>T	CCDS31310.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.338|1.338	-0.594880|-0.594880	0.03771|0.03771	.|.	.|.	ENSG00000154493|ENSG00000154493	ENST00000424927|ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642	.|T;T;T;T	.|0.17054	.|2.33;2.31;2.33;2.3	4.78|4.78	0.318|0.318	0.15867|0.15867	.|.	.|0.302628	.|0.24291	.|N	.|0.039802	T|T	0.08492|0.08492	0.0211|0.0211	L|L	0.33485|0.33485	1.01|1.01	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.29432	.|0.102;0.037;0.244	.|B;B;B	.|0.25614	.|0.033;0.033;0.062	T|T	0.27606|0.27606	-1.0069|-1.0069	5|10	.|0.10636	.|T	.|0.68	-1.7311|-1.7311	4.2853|4.2853	0.10851|0.10851	0.2489:0.5103:0.0:0.2407|0.2489:0.5103:0.0:0.2407	.|.	.|739;642;545	.|F5GZL2;Q96M02;Q96M02-2	.|.;CJ090_HUMAN;.	S|F	185|595;642;545;739;642	.|ENSP00000284694:C642F;ENSP00000398786:C545F;ENSP00000444369:C739F;ENSP00000405995:C642F	.|ENSP00000284694:C642F	A|C	-|-	1|2	0|0	C10orf90|C10orf90	128108382|128108382	0.986000|0.986000	0.35501|0.35501	0.999000|0.999000	0.59377|0.59377	0.998000|0.998000	0.95712|0.95712	0.368000|0.368000	0.20399|0.20399	0.142000|0.142000	0.18901|0.18901	0.655000|0.655000	0.94253|0.94253	GCA|TGC		0.398	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298		15	53	1	0	3.35478e-16	1	4.60015e-16	15	53				
PLSCR2	57047	broad.mit.edu	37	3	146173113	146173113	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:146173113C>G	ENST00000497985.1	-	6	892	c.453G>C	c.(451-453)agG>agC	p.R151S	PLSCR2_ENST00000336685.2_Missense_Mutation_p.R78S	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	151					phospholipid scrambling (GO:0017121)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid scramblase activity (GO:0017128)			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						TATCAGTAATCCTCAAGGTAA	0.428																																						ENST00000497985.1																			0				endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						c.(451-453)agG>agC		phospholipid scramblase 2							138.0	134.0	135.0					3																	146173113		2203	4300	6503	SO:0001583	missense	57047				phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity	g.chr3:146173113C>G		CCDS56284.1, CCDS3134.1, CCDS75029.1	3q24	2008-07-18			ENSG00000163746	ENSG00000163746			16494	protein-coding gene	gene with protein product		607610				10930526	Standard	NM_001199978		Approved		uc003evw.2	Q9NRY7	OTTHUMG00000159429	ENST00000497985.1:c.453G>C	3.37:g.146173113C>G	ENSP00000420132:p.Arg151Ser					PLSCR2_ENST00000336685.2_Missense_Mutation_p.R78S	p.R151S	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN			6	892	-			78					B4DXC3|J3KR76|Q0VAQ1|Q6NSW9|Q7Z4L7	Missense_Mutation	SNP	ENST00000497985.1	37	c.453G>C	CCDS56284.1	.	.	.	.	.	.	.	.	.	.	.	13.67	2.305775	0.40795	.	.	ENSG00000163746	ENST00000336685;ENST00000535500;ENST00000497985;ENST00000489015	T;T;T	0.21734	1.99;1.99;1.99	3.1	2.2	0.27929	.	1.116690	0.07340	U	0.880652	T	0.30510	0.0767	M	0.68317	2.08	0.31294	N	0.689118	P;P	0.48294	0.908;0.759	P;B	0.50537	0.643;0.438	T	0.27839	-1.0062	10	0.22706	T	0.39	.	6.9554	0.24568	0.0:0.7229:0.1793:0.0977	.	171;78	Q7Z4L7;Q9NRY7	.;PLS2_HUMAN	S	78;170;151;78	ENSP00000338707:R78S;ENSP00000420132:R151S;ENSP00000418444:R78S	ENSP00000338707:R78S	R	-	3	2	PLSCR2	147655803	0.000000	0.05858	0.005000	0.12908	0.002000	0.02628	-0.276000	0.08514	0.852000	0.35287	-0.310000	0.09108	AGG		0.428	PLSCR2-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000355264.1	NM_020359		73	96	0	0	0	1	0	73	96				
LPA	4018	broad.mit.edu	37	6	160977161	160977161	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:160977161A>T	ENST00000316300.5	-	30	4913	c.4869T>A	c.(4867-4869)agT>agA	p.S1623R	LPA_ENST00000447678.1_Missense_Mutation_p.S1623R			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4131	Kringle 15. {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)	TGCCTCGATAACTCTGGCCAT	0.488																																						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.(4867-4869)agT>agA		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						164.0	167.0	166.0					6																	160977161		2192	4300	6492	SO:0001583	missense	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.chr6:160977161A>T	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4869T>A	6.37:g.160977161A>T	ENSP00000321334:p.Ser1623Arg					LPA_ENST00000316300.5_Missense_Mutation_p.S1623R	p.S1623R	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)	31	4989	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	4131			Kringle 15.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.4869T>A	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	a	7.791	0.711542	0.15306	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.63744	-0.06;-0.06	2.77	0.298	0.15766	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.64605	0.2613	M	0.87547	2.89	0.09310	N	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.52049	-0.8627	9	0.49607	T	0.09	.	2.5784	0.04812	0.5394:0.0:0.2561:0.2046	.	4131	P08519	APOA_HUMAN	R	1623	ENSP00000321334:S1623R;ENSP00000395608:S1623R	ENSP00000321334:S1623R	S	-	3	2	LPA	160897151	0.009000	0.17119	0.053000	0.19242	0.005000	0.04900	0.123000	0.15708	-0.043000	0.13513	0.402000	0.26972	AGT		0.488	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		35	124	0	0	0	1	0	35	124				
IFNA21	3452	broad.mit.edu	37	9	21166099	21166099	+	Silent	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:21166099G>A	ENST00000380225.1	-	1	560	c.513C>T	c.(511-513)atC>atT	p.I171I		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	171					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGGATCTCATGATTTCTGCTC	0.383																																						ENST00000380225.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14						c.(511-513)atC>atT		interferon, alpha 21							192.0	194.0	193.0					9																	21166099		2203	4300	6503	SO:0001819	synonymous_variant	3452				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21166099G>A		CCDS6497.1	9p22	2010-12-10			ENSG00000137080	ENSG00000137080		"""Interferons"""	5424	protein-coding gene	gene with protein product	"""leukocyte interferon protein"""	147584				1385305	Standard	NM_002175		Approved	IFN-alphaI	uc003zom.2	P01568	OTTHUMG00000019653	ENST00000380225.1:c.513C>T	9.37:g.21166099G>A							p.I171I	NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN		GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	560	-			171					Q14608|Q5VWD1|Q7M4Q4	Silent	SNP	ENST00000380225.1	37	c.513C>T	CCDS6497.1																																																																																				0.383	IFNA21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051882.1	NM_002175		119	208	0	0	0	1	0	119	208				
PCDH7	5099	broad.mit.edu	37	4	30723990	30723990	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:30723990G>T	ENST00000361762.2	+	1	1954	c.946G>T	c.(946-948)Gac>Tac	p.D316Y	PCDH7_ENST00000543491.1_Missense_Mutation_p.D316Y	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	316	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GTACGAGGCCGACTTGGCTGA	0.672																																						ENST00000361762.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						c.(946-948)Gac>Tac		protocadherin 7							15.0	19.0	18.0					4																	30723990		2196	4287	6483	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30723990G>T	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.946G>T	4.37:g.30723990G>T	ENSP00000355243:p.Asp316Tyr					PCDH7_ENST00000543491.1_Missense_Mutation_p.D316Y	p.D316Y	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN			1	1954	+			316			Cadherin 3.		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	c.946G>T	CCDS33971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.954358|3.954358	0.73902|0.73902	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135|ENST00000511884	T;T|.	0.52295|.	0.67;0.67|.	4.99|4.99	4.99|4.99	0.66335|0.66335	Cadherin (3);Cadherin-like (1);|.	.|.	.|.	.|.	.|.	T|T	0.37348|0.37348	0.1000|0.1000	N|N	0.03608|0.03608	-0.345|-0.345	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.998;0.999|.	D;D;D|.	0.79108|.	0.992;0.982;0.992|.	T|T	0.31861|0.31861	-0.9928|-0.9928	9|5	0.72032|.	D|.	0.01|.	.|.	18.6285|18.6285	0.91350|0.91350	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	316;269;316|.	F5GWJ1;O60245-3;O60245|.	.;.;PCDH7_HUMAN|.	Y|L	316;316;269|5	ENSP00000355243:D316Y;ENSP00000441802:D316Y|.	ENSP00000330302:D269Y|.	D|R	+|+	1|2	0|0	PCDH7|PCDH7	30333088|30333088	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.927000|0.927000	0.56198|0.56198	7.941000|7.941000	0.87700|0.87700	2.460000|2.460000	0.83146|0.83146	0.561000|0.561000	0.74099|0.74099	GAC|CGA		0.672	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		6	33	1	0	0.217242	1	0.217806	6	33				
HLA-A	3105	broad.mit.edu	37	6	29911144	29911144	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:29911144T>A	ENST00000396634.1	+	5	784	c.443T>A	c.(442-444)aTc>aAc	p.I148N	HLA-A_ENST00000376806.5_Missense_Mutation_p.I148N|HLA-A_ENST00000376809.5_Missense_Mutation_p.I148N|HLA-A_ENST00000376802.2_Missense_Mutation_p.I148N			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	148	Alpha-2.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						AAGGATTACATCGCCCTGAAC	0.642									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(442-444)aTc>aAc		major histocompatibility complex, class I, A							46.0	31.0	36.0					6																	29911144		1506	2707	4213	SO:0001583	missense	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29911144T>A	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.443T>A	6.37:g.29911144T>A	ENSP00000379873:p.Ile148Asn	Multiple Myeloma(9;0.094)				HLA-A_ENST00000376809.5_Missense_Mutation_p.I148N|HLA-A_ENST00000376802.2_Missense_Mutation_p.I148N|HLA-A_ENST00000376806.5_Missense_Mutation_p.I148N	p.I148N			P30443	1A01_HUMAN			5	784	+			148			Alpha-2.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	c.443T>A	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	10.98	1.505110	0.26949	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000376802	T;T;T;T	0.00020	9.05;9.05;9.05;9.05	3.78	2.57	0.30868	MHC class I, alpha chain, alpha1/alpha2 (8);MHC classes I/II-like antigen recognition protein (4);MHC class I-like antigen recognition (4);	0.500833	0.14416	U	0.320992	T	0.00524	0.0017	H	0.99999	5.67	0.26056	N	0.981417	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;0.999;1.0;0.999;1.0;0.999;0.999	T	0.53330	-0.8454	10	0.87932	D	0	.	8.5342	0.33353	0.0:0.0:0.1964:0.8036	.	27;148;148;148;148;148;148	B4DVB9;P13746;Q5SRN7;P16188;Q5SRN5;P30455;P04439	.;1A11_HUMAN;.;1A30_HUMAN;.;1A36_HUMAN;1A03_HUMAN	N	148	ENSP00000379873:I148N;ENSP00000366002:I148N;ENSP00000366005:I148N;ENSP00000365998:I148N	ENSP00000365998:I148N	I	+	2	0	HLA-A	30019123	0.956000	0.32656	0.943000	0.38184	0.045000	0.14185	5.353000	0.66034	0.594000	0.29761	-0.636000	0.03981	ATC		0.642	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		24	17	0	0	0	1	0	24	17				
PLCG2	5336	broad.mit.edu	37	16	81925123	81925123	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr16:81925123A>C	ENST00000359376.3	+	11	1128	c.914A>C	c.(913-915)aAg>aCg	p.K305T		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	305					B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TGGGATGAGAAGTATGACGCG	0.488																																						ENST00000359376.3																			0				NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.(913-915)aAg>aCg		phospholipase C, gamma 2 (phosphatidylinositol-specific)							108.0	110.0	109.0					16																	81925123		2066	4212	6278	SO:0001583	missense	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81925123A>C		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.914A>C	16.37:g.81925123A>C	ENSP00000352336:p.Lys305Thr						p.K305T	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN			11	1128	+			305					D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	c.914A>C	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.482471	0.84747	.	.	ENSG00000197943	ENST00000359376	T	0.17528	2.27	5.61	4.51	0.55191	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);	0.042440	0.85682	D	0.000000	T	0.36138	0.0956	L	0.61387	1.9	0.58432	D	0.999999	P;D	0.89917	0.77;1.0	P;D	0.91635	0.593;0.999	T	0.03695	-1.1012	10	0.32370	T	0.25	.	11.7913	0.52072	0.9312:0.0:0.0688:0.0	.	172;305	B4E3H3;P16885	.;PLCG2_HUMAN	T	305	ENSP00000352336:K305T	ENSP00000352336:K305T	K	+	2	0	PLCG2	80482624	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.238000	0.78173	1.056000	0.40484	0.533000	0.62120	AAG		0.488	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			13	23	0	0	0	1	0	13	23				
MYL10	93408	broad.mit.edu	37	7	101266281	101266281	+	Silent	SNP	C	C	A	rs375406824		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:101266281C>A	ENST00000223167.4	-	4	522	c.345G>T	c.(343-345)gcG>gcT	p.A115A		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	115	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						ACCCACCCAGCGCGGCAAAGG	0.622																																					Esophageal Squamous(24;575 709 17516 40384 51639)	ENST00000223167.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						c.(343-345)gcG>gcT		myosin, light chain 10, regulatory		C		1,4405	2.1+/-5.4	0,1,2202	97.0	68.0	78.0		345	-9.5	0.8	7		78	0,8600		0,0,4300	no	coding-synonymous	MYL10	NM_138403.4		0,1,6502	AA,AC,CC		0.0,0.0227,0.0077		115/227	101266281	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	93408					mitochondrion	calcium ion binding	g.chr7:101266281C>A	BC002778	CCDS34713.1	7q22.1	2013-01-10			ENSG00000106436	ENSG00000106436		"""Myosins / Light chain"", ""EF-hand domain containing"""	29825	protein-coding gene	gene with protein product						1628631	Standard	NM_138403		Approved	MGC3479, MYLC2PL, PLRLC	uc003uyr.3	Q9BUA6	OTTHUMG00000157137	ENST00000223167.4:c.345G>T	7.37:g.101266281C>A							p.A115A	NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN			4	522	-			115			EF-hand 1.			Silent	SNP	ENST00000223167.4	37	c.345G>T	CCDS34713.1																																																																																				0.622	MYL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347575.1	NM_138403		8	33	1	0	7.48243e-07	1	8.58311e-07	8	33				
PDGFC	56034	broad.mit.edu	37	4	157689137	157689137	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:157689137C>G	ENST00000502773.1	-	5	1199	c.709G>C	c.(709-711)Gat>Cat	p.D237H	PDGFC_ENST00000541126.1_Missense_Mutation_p.D74H|PDGFC_ENST00000504672.1_5'UTR|PDGFC_ENST00000422544.2_Missense_Mutation_p.D237H|PDGFC_ENST00000542208.1_Missense_Mutation_p.D82H	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	237					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cellular response to amino acid stimulus (GO:0071230)|central nervous system development (GO:0007417)|organ morphogenesis (GO:0009887)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		AGGTTCAGATCCACCACTATA	0.358																																						ENST00000502773.1																			0				central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(709-711)Gat>Cat		platelet derived growth factor C							129.0	122.0	124.0					4																	157689137		2203	4300	6503	SO:0001583	missense	56034				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity	g.chr4:157689137C>G	AF091434	CCDS3795.1	4q32	2008-02-05			ENSG00000145431	ENSG00000145431			8801	protein-coding gene	gene with protein product		608452				10858496, 10858548	Standard	NM_016205		Approved	SCDGF, fallotein	uc003iph.2	Q9NRA1	OTTHUMG00000161803	ENST00000502773.1:c.709G>C	4.37:g.157689137C>G	ENSP00000422464:p.Asp237His					PDGFC_ENST00000542208.1_Missense_Mutation_p.D82H|PDGFC_ENST00000504672.1_5'UTR|PDGFC_ENST00000541126.1_Missense_Mutation_p.D74H|PDGFC_ENST00000422544.2_Missense_Mutation_p.D237H	p.D237H	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)	5	1199	-	all_hematologic(180;0.24)	Renal(120;0.0458)	237					B4DU34|B9EGR8|Q4W5M9|Q9UL22	Missense_Mutation	SNP	ENST00000502773.1	37	c.709G>C	CCDS3795.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183257	0.78677	.	.	ENSG00000145431	ENST00000502773;ENST00000541126;ENST00000542208;ENST00000422544	T;T;T;T	0.51574	2.02;0.7;0.7;1.74	5.35	4.5	0.54988	.	0.050072	0.85682	D	0.000000	T	0.60011	0.2236	M	0.78801	2.425	0.58432	D	0.999999	D;P	0.63880	0.993;0.633	P;B	0.52031	0.688;0.348	T	0.66728	-0.5850	10	0.87932	D	0	-7.4708	13.1436	0.59448	0.0:0.9216:0.0:0.0784	.	82;237	B4E3A5;Q9NRA1	.;PDGFC_HUMAN	H	237;74;82;237	ENSP00000422464:D237H;ENSP00000442943:D74H;ENSP00000439728:D82H;ENSP00000410048:D237H	ENSP00000410048:D237H	D	-	1	0	PDGFC	157908587	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.727000	0.68523	1.224000	0.43551	0.655000	0.94253	GAT		0.358	PDGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366123.1			24	137	0	0	0	1	0	24	137				
LGR6	59352	broad.mit.edu	37	1	202287687	202287687	+	Silent	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:202287687C>T	ENST00000367278.3	+	18	2345	c.2256C>T	c.(2254-2256)atC>atT	p.I752I	LGR6_ENST00000439764.2_Silent_p.I613I|LGR6_ENST00000255432.7_Silent_p.I700I	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	752					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GTGCCTACATCAAACTGTACT	0.637																																						ENST00000367278.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						c.(2254-2256)atC>atT		leucine-rich repeat containing G protein-coupled receptor 6							87.0	71.0	76.0					1																	202287687		2203	4300	6503	SO:0001819	synonymous_variant	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202287687C>T	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.2256C>T	1.37:g.202287687C>T						LGR6_ENST00000439764.2_Silent_p.I613I|LGR6_ENST00000255432.7_Silent_p.I700I	p.I752I	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN			18	2345	+			752					Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Silent	SNP	ENST00000367278.3	37	c.2256C>T	CCDS30971.1																																																																																				0.637	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		25	58	0	0	0	1	0	25	58				
HOXC8	3224	broad.mit.edu	37	12	54403307	54403307	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:54403307G>T	ENST00000040584.4	+	1	476	c.239G>T	c.(238-240)aGc>aTc	p.S80I	RP11-834C11.12_ENST00000513209.1_Intron	NM_022658.3	NP_073149.1	P31273	HXC8_HUMAN	homeobox C8	80					anterior/posterior pattern specification (GO:0009952)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	8						TGCTCGCTTAGCTGCCACGGA	0.607																																					GBM(197;701 2226 7002 18822 41696)	ENST00000040584.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	8						c.(238-240)aGc>aTc		homeobox C8							123.0	134.0	130.0					12																	54403307		2203	4300	6503	SO:0001583	missense	3224					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54403307G>T	X99680	CCDS8870.1	12q13.13	2011-06-20	2005-12-22			ENSG00000037965		"""Homeoboxes / ANTP class : HOXL subclass"""	5129	protein-coding gene	gene with protein product		142970	"""homeo box C8"""	HOX3, HOX3A		1973146, 1358459	Standard	NM_022658		Approved		uc001ser.3	P31273		ENST00000040584.4:c.239G>T	12.37:g.54403307G>T	ENSP00000040584:p.Ser80Ile						p.S80I	NM_022658.3	NP_073149.1	P31273	HXC8_HUMAN			1	476	+			80					A8K4J4|O15221|O15362	Missense_Mutation	SNP	ENST00000040584.4	37	c.239G>T	CCDS8870.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012684	0.54468	.	.	ENSG00000037965	ENST00000040584	T	0.41758	0.99	3.95	2.96	0.34315	.	0.123832	0.52532	D	0.000064	T	0.30696	0.0773	L	0.38175	1.15	0.38541	D	0.949222	B	0.28128	0.201	B	0.22386	0.039	T	0.37174	-0.9717	10	0.62326	D	0.03	.	10.6012	0.45369	0.0:0.418:0.582:0.0	.	80	P31273	HXC8_HUMAN	I	80	ENSP00000040584:S80I	ENSP00000040584:S80I	S	+	2	0	HOXC8	52689574	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.465000	0.66725	1.904000	0.55121	0.462000	0.41574	AGC		0.607	HOXC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358957.2			72	270	1	0	6.5469e-37	1	1.01287e-36	72	270				
APOBEC3C	27350	broad.mit.edu	37	22	39414289	39414289	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr22:39414289G>C	ENST00000361441.4	+	4	750	c.470G>C	c.(469-471)tGg>tCg	p.W157S	APOBEC3D_ENST00000381568.4_Intron|APOBEC3D_ENST00000216099.8_5'Flank	NM_014508.2	NP_055323.2	Q9NRW3	ABC3C_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C	157					cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6	Melanoma(58;0.04)					AAATATTGTTGGGAAAACTTT	0.478																																						ENST00000361441.3																			0				endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6						c.(469-471)tGg>tCg		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C							171.0	184.0	179.0					22																	39414289		2203	4300	6503	SO:0001583	missense	27350				DNA demethylation|interspecies interaction between organisms|negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|protein binding|zinc ion binding	g.chr22:39414289G>C	AF165520	CCDS13983.1	22q13.1-q13.2	2014-01-28			ENSG00000244509	ENSG00000244509		"""Apolipoprotein B mRNA editing enzymes"""	17353	protein-coding gene	gene with protein product		607750				11863358	Standard	NM_014508		Approved	APOBEC1L, PBI, bK150C2.3, ARDC2, ARDC4, ARP5	uc003awr.3	Q9NRW3	OTTHUMG00000151087	ENST00000361441.4:c.470G>C	22.37:g.39414289G>C	ENSP00000355340:p.Trp157Ser					APOBEC3D_ENST00000381568.4_Intron	p.W157S	NM_014508.2	NP_055323.2	Q9NRW3	ABC3C_HUMAN			4	750	+	Melanoma(58;0.04)		157					B2R884|Q5JZ92|Q7Z2N7|Q96F12	Missense_Mutation	SNP	ENST00000361441.4	37	c.470G>C	CCDS13983.1	.	.	.	.	.	.	.	.	.	.	.	11.20	1.567338	0.28003	.	.	ENSG00000244509	ENST00000361441	T	0.66460	-0.21	2.01	2.01	0.26516	APOBEC-like, C-terminal (1);Cytidine deaminase-like (1);	.	.	.	.	D	0.83087	0.5178	M	0.92880	3.355	0.25490	N	0.987655	D	0.89917	1.0	D	0.91635	0.999	T	0.69442	-0.5144	9	0.87932	D	0	.	7.6075	0.28110	0.0:0.0:1.0:0.0	.	157	Q9NRW3	ABC3C_HUMAN	S	157	ENSP00000355340:W157S	ENSP00000355340:W157S	W	+	2	0	APOBEC3C	37744235	1.000000	0.71417	0.159000	0.22649	0.041000	0.13682	4.996000	0.63914	1.450000	0.47717	0.479000	0.44913	TGG		0.478	APOBEC3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321241.2	NM_014508		63	274	0	0	0	1	0	63	274				
EIF4A1	1973	broad.mit.edu	37	17	7480724	7480724	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:7480724G>T	ENST00000293831.8	+	7	703	c.687G>T	c.(685-687)agG>agT	p.R229S	EIF4A1_ENST00000577269.1_Missense_Mutation_p.R229S|SNORA67_ENST00000384423.1_RNA|CD68_ENST00000250092.6_5'Flank|CD68_ENST00000380498.6_5'Flank|SNORD10_ENST00000459579.1_RNA|SENP3-EIF4A1_ENST00000579777.1_RNA|SNORA48_ENST00000386847.1_RNA|EIF4A1_ENST00000582746.1_Missense_Mutation_p.R229S	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	229	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						AGTTCATGAGGGACCCCATTC	0.517																																					Melanoma(120;278 1668 15796 27423 46368)	ENST00000293831.8																			0				NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						c.(685-687)agG>agT		eukaryotic translation initiation factor 4A1							73.0	77.0	76.0					17																	7480724		2203	4298	6501	SO:0001583	missense	1973				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity	g.chr17:7480724G>T	D13748	CCDS11113.1, CCDS58511.1	17p13	2012-02-23	2010-02-10		ENSG00000161960	ENSG00000161960		"""DEAD-boxes"""	3282	protein-coding gene	gene with protein product		602641	"""eukaryotic translation initiation factor 4A, isoform 1"""	EIF4A		8493113, 9790779	Standard	NM_001416		Approved	DDX2A, EIF-4A		P60842	OTTHUMG00000108149	ENST00000293831.8:c.687G>T	17.37:g.7480724G>T	ENSP00000293831:p.Arg229Ser					EIF4A1_ENST00000582746.1_Missense_Mutation_p.R229S|EIF4A1_ENST00000577269.1_Missense_Mutation_p.R229S|SENP3-EIF4A1_ENST00000579777.1_RNA	p.R229S	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN			7	703	+			229			Helicase ATP-binding.		B2R6L8|D3DTP9|J3QLC4|P04765|Q5U018|Q61516	Missense_Mutation	SNP	ENST00000293831.8	37	c.687G>T	CCDS11113.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.200754	0.38905	.	.	ENSG00000161960	ENST00000293831;ENST00000396527	T	0.04862	3.54	5.41	4.44	0.53790	DEAD-like helicase (2);	0.000000	0.85682	D	0.000000	T	0.09686	0.0238	L	0.43757	1.38	0.80722	D	1	P;P;B	0.52463	0.953;0.633;0.118	P;B;B	0.51055	0.657;0.383;0.034	T	0.35400	-0.9790	10	0.16420	T	0.52	-19.207	11.0888	0.48104	0.092:0.0:0.908:0.0	.	229;229;229	A8K7F6;A8K088;P60842	.;.;IF4A1_HUMAN	S	229;52	ENSP00000293831:R229S	ENSP00000293831:R229S	R	+	3	2	EIF4A1	7421448	0.911000	0.30947	1.000000	0.80357	0.999000	0.98932	-0.047000	0.11963	1.256000	0.44068	0.591000	0.81541	AGG		0.517	EIF4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226952.6	NM_001416		15	85	1	0	0.000308642	1	0.000326399	15	85				
IMPG2	50939	broad.mit.edu	37	3	100961639	100961639	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:100961639G>A	ENST00000193391.7	-	14	3102	c.2915C>T	c.(2914-2916)cCt>cTt	p.P972L		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	972	SEA 2. {ECO:0000255|PROSITE- ProRule:PRU00188}.				visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	GACGTTAGGAGGGACAGAATT	0.428																																						ENST00000193391.7																			0				NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(2914-2916)cCt>cTt		interphotoreceptor matrix proteoglycan 2							192.0	167.0	176.0					3																	100961639		2203	4300	6503	SO:0001583	missense	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:100961639G>A	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.2915C>T	3.37:g.100961639G>A	ENSP00000193391:p.Pro972Leu						p.P972L	NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN			14	3102	-			972			SEA 2.		A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	37	c.2915C>T	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.807617	0.50421	.	.	ENSG00000081148	ENST00000193391	T	0.35973	1.28	4.87	3.08	0.35506	SEA (2);	0.084419	0.50627	N	0.000110	T	0.39911	0.1096	M	0.71036	2.16	0.53688	D	0.999978	B;B	0.33477	0.413;0.413	B;B	0.36186	0.219;0.159	T	0.34900	-0.9810	10	0.56958	D	0.05	-3.1349	12.3212	0.54985	0.1121:0.0:0.8879:0.0	.	972;972	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	L	972	ENSP00000193391:P972L	ENSP00000193391:P972L	P	-	2	0	IMPG2	102444329	1.000000	0.71417	0.998000	0.56505	0.936000	0.57629	3.099000	0.50267	0.588000	0.29660	0.563000	0.77884	CCT		0.428	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			78	132	0	0	0	1	0	78	132				
KNTC1	9735	broad.mit.edu	37	12	123057507	123057507	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:123057507A>T	ENST00000333479.7	+	25	2220	c.2043A>T	c.(2041-2043)gaA>gaT	p.E681D	KNTC1_ENST00000450485.2_Missense_Mutation_p.E644D	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	681					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		ACACAGAGGAAGTATGTCAGC	0.323																																						ENST00000333479.7																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72						c.(2041-2043)gaA>gaT		kinetochore associated 1							65.0	58.0	60.0					12																	123057507		1832	4078	5910	SO:0001583	missense	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123057507A>T		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.2043A>T	12.37:g.123057507A>T	ENSP00000328236:p.Glu681Asp					KNTC1_ENST00000450485.2_Missense_Mutation_p.E644D	p.E681D	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	25	2220	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		681					A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	c.2043A>T	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	A	15.04	2.715101	0.48622	.	.	ENSG00000184445	ENST00000450485;ENST00000333479	T;T	0.23950	1.88;2.44	5.45	1.65	0.23941	.	0.051050	0.85682	D	0.000000	T	0.38878	0.1057	M	0.63428	1.95	0.80722	D	1	B;D	0.76494	0.007;0.999	B;D	0.78314	0.012;0.991	T	0.11446	-1.0587	10	0.30078	T	0.28	-15.6324	5.3834	0.16204	0.6692:0.0:0.2104:0.1204	.	644;681	E7ES84;P50748	.;KNTC1_HUMAN	D	644;681	ENSP00000397992:E644D;ENSP00000328236:E681D	ENSP00000328236:E681D	E	+	3	2	KNTC1	121623460	0.935000	0.31712	0.821000	0.32701	0.900000	0.52787	0.114000	0.15520	0.034000	0.15491	0.533000	0.62120	GAA		0.323	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			3	16	0	0	0	1	0	3	16				
TMEM184B	25829	broad.mit.edu	37	22	38621482	38621482	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr22:38621482C>T	ENST00000361906.3	-	7	944	c.736G>A	c.(736-738)Gtc>Atc	p.V246I	TMEM184B_ENST00000361684.4_Missense_Mutation_p.V246I|TMEM184B_ENST00000504337.1_5'Flank	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN	transmembrane protein 184B	246						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					AACTTGAGGACGGGGCTGTAG	0.592																																						ENST00000361906.3																			0				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(736-738)Gtc>Atc		transmembrane protein 184B							136.0	127.0	130.0					22																	38621482		2203	4300	6503	SO:0001583	missense	25829					integral to membrane		g.chr22:38621482C>T	AL096879	CCDS13969.2	22q12	2008-02-04	2007-07-11	2007-07-11	ENSG00000198792	ENSG00000198792			1310	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 5"""	C22orf5		10591208	Standard	NM_012264		Approved	HS5O6A, DKFZP586A1024, FM08	uc003avf.1	Q9Y519	OTTHUMG00000030557	ENST00000361906.3:c.736G>A	22.37:g.38621482C>T	ENSP00000355210:p.Val246Ile					TMEM184B_ENST00000361684.4_Missense_Mutation_p.V246I	p.V246I	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN			7	944	-	Melanoma(58;0.045)		246					A8K9D7|Q63HM8|Q7Z421|Q8NBM5|Q9UGT8|Q9UGT9|Q9UGV5	Missense_Mutation	SNP	ENST00000361906.3	37	c.736G>A	CCDS13969.2	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699726	0.68501	.	.	ENSG00000198792	ENST00000361906;ENST00000361684	T;T	0.46819	0.86;0.86	5.85	3.78	0.43462	.	0.215296	0.48286	N	0.000199	T	0.45135	0.1327	M	0.71581	2.175	0.53688	D	0.999972	B	0.31519	0.327	B	0.25405	0.06	T	0.43261	-0.9402	10	0.49607	T	0.09	-19.7582	12.2258	0.54459	0.0:0.8636:0.0:0.1364	.	246	Q9Y519	T184B_HUMAN	I	246	ENSP00000355210:V246I;ENSP00000354441:V246I	ENSP00000354441:V246I	V	-	1	0	TMEM184B	36951428	0.998000	0.40836	0.719000	0.30619	0.998000	0.95712	3.640000	0.54350	0.823000	0.34589	0.655000	0.94253	GTC		0.592	TMEM184B-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075445.4	NM_012264		14	66	0	0	0	1	0	14	66				
OR2A12	346525	broad.mit.edu	37	7	143793017	143793017	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:143793017C>A	ENST00000408949.2	+	1	877	c.817C>A	c.(817-819)Ctt>Att	p.L273I		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					GAGGAAGATCCTTTCCCTGTT	0.522																																						ENST00000408949.2																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25						c.(817-819)Ctt>Att		olfactory receptor, family 2, subfamily A, member 12							207.0	199.0	201.0					7																	143793017		1912	4138	6050	SO:0001583	missense	346525				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143793017C>A		CCDS43670.1	7q35	2013-09-20	2002-11-13	2002-11-13	ENSG00000221858	ENSG00000221858		"""GPCR / Class A : Olfactory receptors"""	15082	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 12 pseudogene"""	OR2A12P			Standard	NM_001004135		Approved		uc011kty.2	Q8NGT7	OTTHUMG00000157996	ENST00000408949.2:c.817C>A	7.37:g.143793017C>A	ENSP00000386174:p.Leu273Ile						p.L273I	NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN			1	877	+	Melanoma(164;0.0783)		273					Q6IF43	Missense_Mutation	SNP	ENST00000408949.2	37	c.817C>A	CCDS43670.1	.	.	.	.	.	.	.	.	.	.	C	8.123	0.781406	0.16120	.	.	ENSG00000221858	ENST00000408949	T	0.36520	1.25	4.33	1.54	0.23209	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.31231	0.0790	N	0.20986	0.625	0.09310	N	1	P	0.40000	0.698	P	0.53102	0.718	T	0.24440	-1.0160	9	0.09084	T	0.74	-15.1335	6.2571	0.20879	0.0:0.5767:0.0:0.4233	.	273	Q8NGT7	O2A12_HUMAN	I	273	ENSP00000386174:L273I	ENSP00000386174:L273I	L	+	1	0	OR2A12	143423950	0.000000	0.05858	0.001000	0.08648	0.518000	0.34316	-0.345000	0.07770	0.128000	0.18479	0.505000	0.49811	CTT		0.522	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349969.1			110	336	1	0	1.98007e-57	1	3.08812e-57	110	336				
ACLY	47	broad.mit.edu	37	17	40058022	40058022	+	Silent	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:40058022C>T	ENST00000352035.2	-	11	1240	c.1110G>A	c.(1108-1110)gaG>gaA	p.E370E	ACLY_ENST00000353196.1_Silent_p.E370E|ACLY_ENST00000590151.1_Silent_p.E370E|ACLY_ENST00000393896.2_Silent_p.E370E|ACLY_ENST00000537919.1_Silent_p.E109E	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	370					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TGACTTCGTGCTCCTTCAGGG	0.517																																					Colon(64;807 1396 15971 30971)	ENST00000352035.2																		NTN1/ACLY(2)	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(1108-1110)gaG>gaA		ATP citrate lyase							158.0	149.0	152.0					17																	40058022		2203	4300	6503	SO:0001819	synonymous_variant	47				ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr17:40058022C>T	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.1110G>A	17.37:g.40058022C>T						ACLY_ENST00000590151.1_Silent_p.E370E|ACLY_ENST00000393896.2_Silent_p.E370E|ACLY_ENST00000353196.1_Silent_p.E370E|ACLY_ENST00000537919.1_Silent_p.E109E	p.E370E	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN			11	1240	-		Breast(137;0.000143)	370					B4DIM0|B4E3P0|Q13037|Q9BRL0	Silent	SNP	ENST00000352035.2	37	c.1110G>A	CCDS11412.1																																																																																				0.517	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096		43	149	0	0	0	1	0	43	149				
BFSP1	631	broad.mit.edu	37	20	17475167	17475167	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr20:17475167G>C	ENST00000377873.3	-	8	1589	c.1550C>G	c.(1549-1551)cCc>cGc	p.P517R	BFSP1_ENST00000377868.2_Missense_Mutation_p.P392R|BFSP1_ENST00000544874.1_Missense_Mutation_p.P378R|BFSP1_ENST00000536626.1_Missense_Mutation_p.P378R	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	517	Tail.				cell maturation (GO:0048469)|lens fiber cell development (GO:0070307)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						AGGGGGCTTGGGTGACTCAGG	0.527																																						ENST00000377873.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						c.(1549-1551)cCc>cGc		beaded filament structural protein 1, filensin							55.0	49.0	51.0					20																	17475167		2203	4300	6503	SO:0001583	missense	631					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr20:17475167G>C	Y16717	CCDS13126.1, CCDS54448.1, CCDS63229.1	20p12.1	2014-06-05			ENSG00000125864	ENSG00000125864		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1040	protein-coding gene	gene with protein product		603307				9787085	Standard	NM_001161705		Approved	CP94, CP115, LIFL-H, filensin	uc002wpo.3	Q12934	OTTHUMG00000031940	ENST00000377873.3:c.1550C>G	20.37:g.17475167G>C	ENSP00000367104:p.Pro517Arg					BFSP1_ENST00000544874.1_Missense_Mutation_p.P378R|BFSP1_ENST00000536626.1_Missense_Mutation_p.P378R|BFSP1_ENST00000377868.2_Missense_Mutation_p.P392R	p.P517R	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN			8	1589	-			517			Tail.		F5H0G1|O43595|O76034|O95676|Q8IVZ6|Q9HBX4	Missense_Mutation	SNP	ENST00000377873.3	37	c.1550C>G	CCDS13126.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.937040	0.52972	.	.	ENSG00000125864	ENST00000377873;ENST00000377868;ENST00000536626;ENST00000544874	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	5.21	5.21	0.72293	.	0.186807	0.46758	D	0.000269	T	0.77363	0.4119	M	0.61703	1.905	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	T	0.78648	-0.2122	10	0.56958	D	0.05	-19.121	17.3313	0.87265	0.0:0.0:1.0:0.0	.	392;517	Q12934-2;Q12934	.;BFSP1_HUMAN	R	517;392;378;378	ENSP00000367104:P517R;ENSP00000367099:P392R;ENSP00000442522:P378R;ENSP00000439870:P378R	ENSP00000367099:P392R	P	-	2	0	BFSP1	17423167	1.000000	0.71417	0.578000	0.28575	0.033000	0.12548	9.085000	0.94083	2.405000	0.81733	0.655000	0.94253	CCC		0.527	BFSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078119.6	NM_001195		21	74	0	0	0	1	0	21	74				
EPB41L4B	54566	broad.mit.edu	37	9	111976076	111976076	+	Silent	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:111976076G>T	ENST00000374566.3	-	17	2173	c.1656C>A	c.(1654-1656)gcC>gcA	p.A552A		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	552					actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CACTGAACAAGGCAGGTGTTC	0.493																																						ENST00000374566.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1654-1656)gcC>gcA		erythrocyte membrane protein band 4.1 like 4B							65.0	64.0	64.0					9																	111976076		1907	4124	6031	SO:0001819	synonymous_variant	54566					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	g.chr9:111976076G>T	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.1656C>A	9.37:g.111976076G>T							p.A552A	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN			17	2173	-			552					Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Silent	SNP	ENST00000374566.3	37	c.1656C>A	CCDS43859.1																																																																																				0.493	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424		22	73	1	0	8.10497e-08	1	9.50918e-08	22	73				
PPL	5493	broad.mit.edu	37	16	4941824	4941824	+	Silent	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr16:4941824C>G	ENST00000345988.2	-	16	2045	c.1956G>C	c.(1954-1956)ggG>ggC	p.G652G	PPL_ENST00000590782.2_Silent_p.G650G	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	652					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						CCAGCTCCTGCCCCTTGCTGT	0.602																																						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.(1954-1956)ggG>ggC		periplakin							90.0	85.0	87.0					16																	4941824		2197	4300	6497	SO:0001819	synonymous_variant	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4941824C>G	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.1956G>C	16.37:g.4941824C>G						PPL_ENST00000590782.2_Silent_p.G650G	p.G652G	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN			16	2045	-			652					O60314|O60454|Q14C98	Silent	SNP	ENST00000345988.2	37	c.1956G>C	CCDS10526.1																																																																																				0.602	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		56	136	0	0	0	1	0	56	136				
SLC16A6	9120	broad.mit.edu	37	17	66267770	66267770	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:66267770A>C	ENST00000327268.4	-	6	695	c.531T>G	c.(529-531)atT>atG	p.I177M	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Missense_Mutation_p.I177M	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	177					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	ATCTCCAGCCAATGCGCTCCT	0.473																																						ENST00000327268.4																			0				large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15						c.(529-531)atT>atG		solute carrier family 16, member 6	Pyruvic acid(DB00119)						44.0	44.0	44.0					17																	66267770		2203	4300	6503	SO:0001583	missense	9120					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr17:66267770A>C	U79745	CCDS11675.1	17q24.2	2013-07-18	2013-07-18		ENSG00000108932	ENSG00000108932		"""Solute carriers"""	10927	protein-coding gene	gene with protein product		603880	"""solute carrier family 16 (monocarboxylic acid transporters), member 6"", ""solute carrier family 16, member 6 (monocarboxylic acid transporter 7)"""			9425115	Standard	NM_004694		Approved	MCT6, MCT7	uc002jgz.2	O15403	OTTHUMG00000179812	ENST00000327268.4:c.531T>G	17.37:g.66267770A>C	ENSP00000319991:p.Ile177Met					ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Missense_Mutation_p.I177M	p.I177M	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		6	695	-	all_cancers(12;1.24e-09)		177					Q6P1X3	Missense_Mutation	SNP	ENST00000327268.4	37	c.531T>G	CCDS11675.1	.	.	.	.	.	.	.	.	.	.	A	8.511	0.866552	0.17250	.	.	ENSG00000108932	ENST00000327268	T	0.37915	1.17	4.33	-7.87	0.01183	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.248067	0.40469	N	0.001095	T	0.35941	0.0949	L	0.61218	1.895	0.42632	D	0.993384	P	0.36837	0.571	P	0.46208	0.507	T	0.50083	-0.8869	10	0.72032	D	0.01	.	10.313	0.43721	0.7519:0.1148:0.1333:0.0	.	177	O15403	MOT7_HUMAN	M	177	ENSP00000319991:I177M	ENSP00000319991:I177M	I	-	3	3	SLC16A6	63779365	0.001000	0.12720	0.014000	0.15608	0.891000	0.51852	-1.420000	0.02457	-1.299000	0.02344	-0.425000	0.05940	ATT		0.473	SLC16A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448323.1	NM_004694		13	60	0	0	0	1	0	13	60				
NEB	4703	broad.mit.edu	37	2	152423820	152423820	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:152423820C>A	ENST00000172853.10	-	86	13062	c.12915G>T	c.(12913-12915)atG>atT	p.M4305I	NEB_ENST00000427231.2_Missense_Mutation_p.M6006I|NEB_ENST00000603639.1_Missense_Mutation_p.M6006I|NEB_ENST00000604864.1_Missense_Mutation_p.M6006I|NEB_ENST00000409198.1_Missense_Mutation_p.M4305I|NEB_ENST00000397345.3_Missense_Mutation_p.M6006I			P20929	NEBU_HUMAN	nebulin	4305					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)		AGACTGACACCATATCAGCAG	0.448																																						ENST00000397345.3																			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.(18016-18018)atG>atT		nebulin							185.0	169.0	174.0					2																	152423820		1955	4148	6103	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.chr2:152423820C>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.12915G>T	2.37:g.152423820C>A	ENSP00000172853:p.Met4305Ile					NEB_ENST00000172853.10_Missense_Mutation_p.M4305I|NEB_ENST00000427231.2_Missense_Mutation_p.M6006I|NEB_ENST00000603639.1_Missense_Mutation_p.M6006I|NEB_ENST00000604864.1_Missense_Mutation_p.M6006I|NEB_ENST00000409198.1_Missense_Mutation_p.M4305I	p.M6006I	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	114	18220	-			6023					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.18018G>T		.	.	.	.	.	.	.	.	.	.	C	6.728	0.503068	0.12822	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08	5.98	2.09	0.27110	.	0.105290	0.85682	D	0.000000	T	0.48642	0.1511	M	0.64260	1.97	0.80722	D	1	B;P	0.40230	0.001;0.708	B;P	0.56278	0.003;0.795	T	0.44467	-0.9326	10	0.41790	T	0.15	.	1.8104	0.03089	0.207:0.4075:0.2036:0.1819	.	4305;736	P20929;Q14215	NEBU_HUMAN;.	I	4305;6006;6006;354;736;4305	ENSP00000386259:M4305I;ENSP00000380505:M6006I;ENSP00000416578:M6006I;ENSP00000410961:M736I;ENSP00000172853:M4305I	ENSP00000172853:M4305I	M	-	3	0	NEB	152132066	1.000000	0.71417	1.000000	0.80357	0.037000	0.13140	1.329000	0.33770	0.437000	0.26423	-0.910000	0.02820	ATG		0.448	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		32	86	1	0	8.16721e-17	1	1.13197e-16	32	86				
APLP1	333	broad.mit.edu	37	19	36369532	36369532	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:36369532C>A	ENST00000221891.4	+	14	1818	c.1626C>A	c.(1624-1626)aaC>aaA	p.N542K	APLP1_ENST00000586861.1_Missense_Mutation_p.N535K|APLP1_ENST00000537454.2_Missense_Mutation_p.N502K	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	541					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGAAGATGAACCCGCTGGAAC	0.483																																						ENST00000221891.4																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33						c.(1624-1626)aaC>aaA		amyloid beta (A4) precursor-like protein 1							72.0	67.0	69.0					19																	36369532		2203	4300	6503	SO:0001583	missense	333				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding	g.chr19:36369532C>A	U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"""amyloid-like protein 1"", ""amyloid precursor-like protein 1"""	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.1626C>A	19.37:g.36369532C>A	ENSP00000221891:p.Asn542Lys					APLP1_ENST00000586861.1_Missense_Mutation_p.N535K|APLP1_ENST00000537454.2_Missense_Mutation_p.N502K	p.N542K	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		14	1818	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		541					O00113|Q96A92	Missense_Mutation	SNP	ENST00000221891.4	37	c.1626C>A	CCDS32997.1	.	.	.	.	.	.	.	.	.	.	C	0.244	-1.011494	0.02095	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	D;D	0.93604	-3.19;-3.25	4.5	-1.81	0.07882	.	2.409890	0.01904	N	0.039382	D	0.84745	0.5540	N	0.08118	0	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.12156	0.0;0.007;0.0;0.001	T	0.74850	-0.3524	10	0.26408	T	0.33	-0.1857	7.8775	0.29603	0.0:0.5015:0.0:0.4985	.	535;502;542;541	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	K	502;542	ENSP00000441501:N502K;ENSP00000221891:N542K	ENSP00000221891:N542K	N	+	3	2	APLP1	41061372	0.000000	0.05858	0.009000	0.14445	0.791000	0.44710	-0.888000	0.04148	-0.254000	0.09500	0.591000	0.81541	AAC		0.483	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1	NM_001024807		7	74	1	0	8.12818e-05	1	8.82554e-05	7	74				
MYO7A	4647	broad.mit.edu	37	11	76868401	76868401	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:76868401G>T	ENST00000409709.3	+	8	1084	c.812G>T	c.(811-813)gGc>gTc	p.G271V	MYO7A_ENST00000458637.2_Missense_Mutation_p.G271V|MYO7A_ENST00000409619.2_Missense_Mutation_p.G260V|MYO7A_ENST00000409893.1_Missense_Mutation_p.G271V	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	271	Myosin motor.				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						AAGAAGCTGGGCTTGGGCCAG	0.582																																						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.(811-813)gGc>gTc		myosin VIIA							85.0	95.0	92.0					11																	76868401		1953	4144	6097	SO:0001583	missense	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.chr11:76868401G>T	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.812G>T	11.37:g.76868401G>T	ENSP00000386331:p.Gly271Val					MYO7A_ENST00000409619.2_Missense_Mutation_p.G260V|MYO7A_ENST00000458637.2_Missense_Mutation_p.G271V|MYO7A_ENST00000409893.1_Missense_Mutation_p.G271V	p.G271V	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			8	1084	+			271			Myosin head-like.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.812G>T	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.208808	0.79240	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000343419	D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26	5.08	5.08	0.68730	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.90456	0.7011	M	0.74258	2.255	0.80722	D	1	P;B;P	0.45827	0.607;0.249;0.867	B;B;P	0.50136	0.395;0.345;0.632	D	0.89732	0.3927	10	0.35671	T	0.21	.	18.4809	0.90811	0.0:0.0:1.0:0.0	.	271;271;271	B9A012;F8VUN5;Q13402	.;.;MYO7A_HUMAN	V	271;271;271;260;270;270;270;270	ENSP00000386331:G271V;ENSP00000386689:G271V;ENSP00000392185:G271V;ENSP00000386635:G260V	ENSP00000345075:G270V	G	+	2	0	MYO7A	76546049	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	7.579000	0.82511	2.346000	0.79739	0.563000	0.77884	GGC		0.582	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		9	12	1	0	0.000274275	1	0.000291653	9	12				
RFX4	5992	broad.mit.edu	37	12	107109260	107109260	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:107109260C>A	ENST00000392842.1	+	11	1490	c.1076C>A	c.(1075-1077)aCc>aAc	p.T359N	RP11-482D24.3_ENST00000552415.1_RNA|RFX4_ENST00000229387.5_Missense_Mutation_p.T265N|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Missense_Mutation_p.T368N	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	359	Necessary for dimerization.				cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						AACAGCATCACCAAGCAAACC	0.483																																						ENST00000392842.1																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						c.(1075-1077)aCc>aAc		regulatory factor X, 4 (influences HLA class II expression)							229.0	174.0	192.0					12																	107109260		2203	4300	6503	SO:0001583	missense	5992				transcription, DNA-dependent	nucleus	DNA binding	g.chr12:107109260C>A	AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.1076C>A	12.37:g.107109260C>A	ENSP00000376585:p.Thr359Asn					RP11-482D24.3_ENST00000552415.1_RNA|RFX4_ENST00000229387.5_Missense_Mutation_p.T265N|RFX4_ENST00000357881.4_Missense_Mutation_p.T368N|RP11-144F15.1_ENST00000551505.1_Intron	p.T359N	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN			11	1490	+			359			Necessary for dimerization.		A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Missense_Mutation	SNP	ENST00000392842.1	37	c.1076C>A	CCDS9106.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.446712	0.84101	.	.	ENSG00000111783	ENST00000392842;ENST00000357881;ENST00000266774;ENST00000229387	T;T;T	0.43294	0.95;0.95;0.95	5.9	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.57799	0.2078	L	0.56769	1.78	0.80722	D	1	D;D;D;D	0.76494	0.999;0.993;0.983;0.971	D;P;P;P	0.64144	0.922;0.732;0.649;0.543	T	0.57046	-0.7878	10	0.38643	T	0.18	-15.4902	15.0378	0.71764	0.0:0.9321:0.0:0.0679	.	265;368;368;359	B2RDW4;Q33E94-2;Q33E94-4;Q33E94	.;.;.;RFX4_HUMAN	N	359;368;368;265	ENSP00000376585:T359N;ENSP00000350552:T368N;ENSP00000229387:T265N	ENSP00000229387:T265N	T	+	2	0	RFX4	105633390	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.347000	0.79356	1.518000	0.48934	0.655000	0.94253	ACC		0.483	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491		6	51	1	0	0.000157383	1	0.00016875	6	51				
CCDC130	81576	broad.mit.edu	37	19	13873432	13873432	+	Silent	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:13873432G>A	ENST00000586600.1	+	11	1244	c.741G>A	c.(739-741)cgG>cgA	p.R247R	CCDC130_ENST00000221554.8_Silent_p.R247R|CCDC130_ENST00000587019.1_3'UTR|MRI1_ENST00000040663.6_5'Flank|MRI1_ENST00000319545.8_5'Flank			P13994	CC130_HUMAN	coiled-coil domain containing 130	247					response to virus (GO:0009615)					endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			AACTCAAGCGGACCGAGATCA	0.627																																						ENST00000586600.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10						c.(739-741)cgG>cgA		coiled-coil domain containing 130							34.0	36.0	35.0					19																	13873432		2203	4299	6502	SO:0001819	synonymous_variant	81576				response to virus		protein binding	g.chr19:13873432G>A	AF250306	CCDS12296.1	19p13.13	2008-02-05				ENSG00000104957			28118	protein-coding gene	gene with protein product						3203696	Standard	NM_030818		Approved	MGC10471	uc002mxc.1	P13994		ENST00000586600.1:c.741G>A	19.37:g.13873432G>A						CCDC130_ENST00000221554.8_Silent_p.R247R|CCDC130_ENST00000587019.1_3'UTR	p.R247R			P13994	CC130_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)		11	1244	+			247					Q9BQ72	Silent	SNP	ENST00000586600.1	37	c.741G>A	CCDS12296.1																																																																																				0.627	CCDC130-001	KNOWN	alternative_5_UTR|upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453216.2	NM_030818		45	22	0	0	0	1	0	45	22				
CPA6	57094	broad.mit.edu	37	8	68346361	68346361	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:68346361C>T	ENST00000297770.4	-	9	1168	c.953G>A	c.(952-954)aGg>aAg	p.R318K	CPA6_ENST00000297769.4_Intron	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	318						proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			GAGATAAGCCCTAATGTGCTT	0.408																																						ENST00000297770.4																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26						c.(952-954)aGg>aAg		carboxypeptidase A6							194.0	173.0	180.0					8																	68346361		2203	4300	6503	SO:0001583	missense	57094				proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr8:68346361C>T	AF221594	CCDS6200.1	8q12.3	2012-02-10			ENSG00000165078	ENSG00000165078			17245	protein-coding gene	gene with protein product		609562				11836249	Standard	NM_020361		Approved	CPAH	uc003xxq.4	Q8N4T0	OTTHUMG00000164575	ENST00000297770.4:c.953G>A	8.37:g.68346361C>T	ENSP00000297770:p.Arg318Lys					CPA6_ENST00000297769.4_Intron	p.R318K	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)		9	1168	-			318					Q8NEX8|Q8TDE8|Q9NRI9	Missense_Mutation	SNP	ENST00000297770.4	37	c.953G>A	CCDS6200.1	.	.	.	.	.	.	.	.	.	.	C	0.042	-1.279898	0.01398	.	.	ENSG00000165078	ENST00000297770	T	0.28454	1.61	5.29	-2.19	0.07015	Peptidase M14, carboxypeptidase A (2);	0.258206	0.45361	N	0.000367	T	0.07369	0.0186	N	0.02129	-0.67	0.33490	D	0.588628	B	0.02656	0.0	B	0.06405	0.002	T	0.43180	-0.9407	10	0.02654	T	1	.	6.5346	0.22346	0.0:0.3446:0.2139:0.4415	.	318	Q8N4T0	CBPA6_HUMAN	K	318	ENSP00000297770:R318K	ENSP00000297770:R318K	R	-	2	0	CPA6	68508915	0.873000	0.30073	0.379000	0.26080	0.266000	0.26442	0.760000	0.26475	-0.749000	0.04747	-0.886000	0.02939	AGG		0.408	CPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379296.2	NM_020361		49	126	0	0	0	1	0	49	126				
ALDH3B1	221	broad.mit.edu	37	11	67787208	67787208	+	Missense_Mutation	SNP	G	G	A	rs201905211		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:67787208G>A	ENST00000539229.1	+	7	618	c.502G>A	c.(502-504)Ggg>Agg	p.G168R	ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000007633.8_Missense_Mutation_p.G168R|ALDH3B1_ENST00000342456.6_Missense_Mutation_p.G132R|ALDH3B1_ENST00000316367.6_Missense_Mutation_p.G168R	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3 family, member B1	169					alcohol metabolic process (GO:0006066)|aldehyde catabolic process (GO:0046185)|cellular response to oxidative stress (GO:0034599)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)										GGTGCTGGGCGGGCCCCAGGA	0.672																																						ENST00000539229.1																			0											c.(502-504)Ggg>Agg		aldehyde dehydrogenase 3 family, member B1	NADH(DB00157)	G	,ARG/GLY,	0,4400		0,0,2200	82.0	96.0	91.0		504,394,504	3.3	0.0	11		91	1,8587	1.2+/-3.3	0,1,4293	yes	coding-synonymous,missense,coding-synonymous	ALDH3B1	NM_000694.2,NM_001030010.1,NM_001161473.1	,125,	0,1,6493	AA,AG,GG		0.0116,0.0,0.0077	,benign,	168/468,132/432,168/468	67787208	1,12987	2200	4294	6494	SO:0001583	missense	221				alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase	g.chr11:67787208G>A	U10868	CCDS73335.1, CCDS73336.1	11q13	2010-04-27			ENSG00000006534	ENSG00000006534	1.2.1.5	"""Aldehyde dehydrogenases"""	410	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 7"", ""aldehyde dehydrogenase 3B1"""	600466		ALDH7		9161417, 7828891	Standard	NM_000694		Approved		uc001ona.3	P43353	OTTHUMG00000154910	ENST00000539229.1:c.502G>A	11.37:g.67787208G>A	ENSP00000474034:p.Gly168Arg					ALDH3B1_ENST00000342456.6_Missense_Mutation_p.G132R|ALDH3B1_ENST00000316367.6_Missense_Mutation_p.G168R|ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000007633.8_Missense_Mutation_p.G168R	p.G168R	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN			7	618	+			169					A3FMP9|Q53XL5|Q8N515|Q96CK8	Missense_Mutation	SNP	ENST00000539229.1	37	c.502G>A																																																																																					0.672	ALDH3B1-204	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000694		19	119	0	0	0	1	0	19	119				
SNAPC4	6621	broad.mit.edu	37	9	139275783	139275783	+	Silent	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:139275783C>T	ENST00000298532.2	-	18	2747	c.2379G>A	c.(2377-2379)ctG>ctA	p.L793L		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CCTGGGTAAACAGGGTAAACA	0.527																																						ENST00000298532.2																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33						c.(2377-2379)ctG>ctA		small nuclear RNA activating complex, polypeptide 4, 190kDa							95.0	114.0	108.0					9																	139275783		2203	4300	6503	SO:0001819	synonymous_variant	6621				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:139275783C>T	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.2379G>A	9.37:g.139275783C>T							p.L793L	NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	18	2747	-		Myeloproliferative disorder(178;0.0511)	793						Silent	SNP	ENST00000298532.2	37	c.2379G>A	CCDS6998.1																																																																																				0.527	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086		102	193	0	0	0	1	0	102	193				
LIN28B	389421	broad.mit.edu	37	6	105406081	105406081	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:105406081C>A	ENST00000345080.4	+	2	321	c.118C>A	c.(118-120)Cgc>Agc	p.R40S		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	40	CSD.				miRNA catabolic process (GO:0010587)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA 3'-end processing (GO:0031123)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				GTTCAATGTGCGCATGGGATT	0.512																																						ENST00000345080.4																			0				large_intestine(1)|lung(10)|ovary(1)	12						c.(118-120)Cgc>Agc		lin-28 homolog B (C. elegans)							91.0	96.0	94.0					6																	105406081		2203	4298	6501	SO:0001583	missense	389421				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding	g.chr6:105406081C>A	AK131411	CCDS34504.1	6q21	2010-04-06			ENSG00000187772	ENSG00000187772			32207	protein-coding gene	gene with protein product		611044					Standard	NM_001004317		Approved	FLJ16517, CSDD2	uc003pqv.2	Q6ZN17	OTTHUMG00000015290	ENST00000345080.4:c.118C>A	6.37:g.105406081C>A	ENSP00000344401:p.Arg40Ser						p.R40S	NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN			2	321	+		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)	40			CSD.		A1L165|B2RPN6|Q5TCM4	Missense_Mutation	SNP	ENST00000345080.4	37	c.118C>A	CCDS34504.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.165390	0.57476	.	.	ENSG00000187772	ENST00000345080	.	.	.	5.78	5.78	0.91487	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (2);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.43656	0.1257	N	0.12569	0.235	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.42481	-0.9449	9	0.24483	T	0.36	-11.7324	14.69	0.69080	0.1796:0.8204:0.0:0.0	.	40	Q6ZN17	LN28B_HUMAN	S	40	.	ENSP00000344401:R40S	R	+	1	0	LIN28B	105512774	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.268000	0.51585	2.714000	0.92807	0.650000	0.86243	CGC		0.512	LIN28B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041646.2	NM_001004317		62	72	1	0	7.22619e-39	1	1.1202e-38	62	72				
DEFB129	140881	broad.mit.edu	37	20	210098	210098	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr20:210098C>T	ENST00000246105.4	+	2	269	c.238C>T	c.(238-240)Caa>Taa	p.Q80*		NM_080831.3	NP_543021.1	Q9H1M3	DB129_HUMAN	defensin, beta 129	80					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|stomach(1)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			TGAAGACGTCCAAGAAATGCT	0.338																																						ENST00000246105.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|stomach(1)	9						c.(238-240)Caa>Taa		defensin, beta 129							94.0	93.0	93.0					20																	210098		2203	4300	6503	SO:0001587	stop_gained	140881				defense response to bacterium	extracellular region		g.chr20:210098C>T	AY358186	CCDS12992.1	20p13	2010-03-30	2002-05-09	2002-05-10	ENSG00000125903	ENSG00000125903		"""Defensins, beta"""	16218	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 87"""	C20orf87		11854508	Standard	NM_080831		Approved	bA530N10.3, DEFB-29	uc002wda.3	Q9H1M3	OTTHUMG00000031618	ENST00000246105.4:c.238C>T	20.37:g.210098C>T	ENSP00000246105:p.Gln80*						p.Q80*	NM_080831.3	NP_543021.1	Q9H1M3	DB129_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.122)		2	269	+		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	80					Q8NES7	Nonsense_Mutation	SNP	ENST00000246105.4	37	c.238C>T	CCDS12992.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.705354	0.30232	.	.	ENSG00000125903	ENST00000246105	.	.	.	4.51	-1.42	0.08913	.	1.352190	0.05054	N	0.478700	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0503	1.9743	0.03412	0.1372:0.2868:0.383:0.1929	.	.	.	.	X	80	.	ENSP00000246105:Q80X	Q	+	1	0	DEFB129	158098	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.858000	0.04281	-0.168000	0.10853	-0.251000	0.11542	CAA		0.338	DEFB129-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077430.2	NM_080831		28	104	0	0	0	1	0	28	104				
LAMA1	284217	broad.mit.edu	37	18	6976041	6976041	+	Silent	SNP	C	C	T	rs563357395	byFrequency	TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr18:6976041C>T	ENST00000389658.3	-	45	6477	c.6384G>A	c.(6382-6384)cgG>cgA	p.R2128R		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2128	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GCTGGTAGGCCCGGATGCAAT	0.468													C|||	2	0.000399361	0.0	0.0	5008	,	,		16853	0.0		0.0	False		,,,				2504	0.002					ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(6382-6384)cgG>cgA		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						139.0	138.0	138.0					18																	6976041		2203	4300	6503	SO:0001819	synonymous_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6976041C>T	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.6384G>A	18.37:g.6976041C>T							p.R2128R	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			45	6477	-		Colorectal(10;0.172)	2128			Laminin G-like 1.			Silent	SNP	ENST00000389658.3	37	c.6384G>A	CCDS32787.1																																																																																				0.468	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		123	117	0	0	0	1	0	123	117				
PVRL1	5818	broad.mit.edu	37	11	119536008	119536008	+	Splice_Site	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:119536008C>T	ENST00000264025.3	-	6	1534		c.e6-1		PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)						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)		TAGGGGAATTCTGGGTGAGGA	0.662																																						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.e6-1		poliovirus receptor-related 1 (herpesvirus entry mediator C)							16.0	19.0	18.0					11																	119536008		2193	4288	6481	SO:0001630	splice_region_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.chr11:119536008C>T	X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9706	protein-coding gene	gene with protein product	"""nectin"""	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.1004-1G>A	11.37:g.119536008C>T						PVRL1_ENST00000341398.2_Intron		NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)	6	1534	-		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)						O75465|Q2M3D3|Q9HBE6|Q9HBW2	Splice_Site	SNP	ENST00000264025.3	37		CCDS8426.1	.	.	.	.	.	.	.	.	.	.	-	21.1	4.098297	0.76870	.	.	ENSG00000110400	ENST00000264025	.	.	.	4.32	4.32	0.51571	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1855	0.81948	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PVRL1	119041218	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.234000	0.78134	2.108000	0.64289	0.479000	0.44913	.		0.662	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1		Intron	7	25	0	0	0	1	0	7	25				
NYAP2	57624	broad.mit.edu	37	2	226446970	226446970	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:226446970G>T	ENST00000272907.6	+	4	1250	c.837G>T	c.(835-837)ttG>ttT	p.L279F	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	279					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												TTGACGACTTGGGCCAAGACG	0.542																																						ENST00000272907.6																			0											c.(835-837)ttG>ttT		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2							108.0	115.0	112.0					2																	226446970		2102	4207	6309	SO:0001583	missense	57624							g.chr2:226446970G>T	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.837G>T	2.37:g.226446970G>T	ENSP00000272907:p.Leu279Phe					NYAP2_ENST00000409269.2_Intron	p.L279F	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN			4	1250	+			279					A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	c.837G>T	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	G	3.695	-0.062710	0.07273	.	.	ENSG00000144460	ENST00000272907	T	0.43688	0.94	5.84	-7.84	0.01196	.	0.416843	0.23941	N	0.043058	T	0.20210	0.0486	L	0.33485	1.01	0.46823	D	0.999213	P	0.46912	0.886	B	0.42555	0.391	T	0.52343	-0.8588	10	0.10111	T	0.7	-5.7324	6.8261	0.23885	0.6413:0.1706:0.1077:0.0804	.	279	Q9P242	K1486_HUMAN	F	279	ENSP00000272907:L279F	ENSP00000272907:L279F	L	+	3	2	KIAA1486	226155214	0.004000	0.15560	0.120000	0.21714	0.884000	0.51177	-0.683000	0.05179	-1.120000	0.02953	-0.312000	0.09012	TTG		0.542	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		38	113	1	0	3.62531e-18	1	5.15421e-18	38	113				
GRM8	2918	broad.mit.edu	37	7	126883063	126883063	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:126883063C>A	ENST00000339582.2	-	2	1004	c.196G>T	c.(196-198)Gag>Tag	p.E66*	GRM8_ENST00000444921.2_Nonsense_Mutation_p.E66*|GRM8_ENST00000405249.1_Nonsense_Mutation_p.E66*|GRM8_ENST00000358373.3_Nonsense_Mutation_p.E66*			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	66					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				TTCTTCAGCTCCCCACAAGGC	0.527										HNSCC(24;0.065)																												ENST00000339582.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(196-198)Gag>Tag		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						88.0	72.0	78.0					7																	126883063		2203	4300	6503	SO:0001587	stop_gained	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126883063C>A		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.196G>T	7.37:g.126883063C>A	ENSP00000344173:p.Glu66*	HNSCC(24;0.065)				GRM8_ENST00000405249.1_Nonsense_Mutation_p.E66*|GRM8_ENST00000358373.3_Nonsense_Mutation_p.E66*|GRM8_ENST00000444921.2_Nonsense_Mutation_p.E66*	p.E66*			O00222	GRM8_HUMAN			2	1004	-		Prostate(267;0.186)	66					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Nonsense_Mutation	SNP	ENST00000339582.2	37	c.196G>T	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	C	42	9.466449	0.99178	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249;ENST00000457830	.	.	.	6.17	6.17	0.99709	.	0.115754	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	.	.	.	X	66	.	ENSP00000344173:E66X	E	-	1	0	GRM8	126670299	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAG		0.527	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			34	60	1	0	1.61788e-16	1	2.23435e-16	34	60				
CROCC	9696	broad.mit.edu	37	1	17249221	17249221	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:17249221G>T	ENST00000375541.5	+	2	193	c.124G>T	c.(124-126)Gct>Tct	p.A42S		NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGCCCAGGACGCTCAGATCAC	0.647																																						ENST00000375541.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(124-126)Gct>Tct		ciliary rootlet coiled-coil, rootletin							79.0	75.0	76.0					1																	17249221		2203	4300	6503	SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17249221G>T	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.124G>T	1.37:g.17249221G>T	ENSP00000364691:p.Ala42Ser						p.A42S	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	2	193	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	42						Missense_Mutation	SNP	ENST00000375541.5	37	c.124G>T	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	G	5.868	0.344342	0.11126	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.10099	2.91	5.55	-6.22	0.02058	.	.	.	.	.	T	0.03136	0.0092	N	0.05383	-0.06	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44682	-0.9312	9	0.08599	T	0.76	.	2.3774	0.04346	0.0998:0.2402:0.3216:0.3384	.	42	Q5TZA2	CROCC_HUMAN	S	42;13	ENSP00000364691:A42S	ENSP00000364691:A42S	A	+	1	0	CROCC	17121808	0.012000	0.17670	0.001000	0.08648	0.003000	0.03518	0.238000	0.18004	-0.632000	0.05553	-0.950000	0.02660	GCT		0.647	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		24	76	1	0	6.21321e-17	1	8.65812e-17	24	76				
OR6F1	343169	broad.mit.edu	37	1	247875869	247875869	+	Silent	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:247875869C>G	ENST00000302084.2	-	1	236	c.189G>C	c.(187-189)ctG>ctC	p.L63L	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AGAGGTTGCTCAGAAAGAAGT	0.473																																						ENST00000302084.2																			0				breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47						c.(187-189)ctG>ctC		olfactory receptor, family 6, subfamily F, member 1							107.0	105.0	106.0					1																	247875869		2203	4300	6503	SO:0001819	synonymous_variant	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247875869C>G	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.189G>C	1.37:g.247875869C>G						RP11-634B7.4_ENST00000449298.1_RNA	p.L63L	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	236	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		63					B2RNV6|Q6IF02|Q96R39	Silent	SNP	ENST00000302084.2	37	c.189G>C	CCDS31095.1																																																																																				0.473	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		25	161	0	0	0	1	0	25	161				
GOLGA2P5	55592	broad.mit.edu	37	12	100552811	100552811	+	RNA	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:100552811C>A	ENST00000397112.4	-	0	1448				RN7SL176P_ENST00000580352.1_RNA|AC010203.1_ENST00000408843.1_RNA	NR_036632.1		Q9HBQ8	GGA2B_HUMAN								Golgi apparatus (GO:0005794)				large_intestine(1)|lung(3)	4						GCAGCCGGTCCACGAGCTGGG	0.597																																						ENST00000397112.4																			0				large_intestine(1)|lung(3)	4																																														55592							g.chr12:100552811C>A																													12.37:g.100552811C>A								NR_036632.1						0	1448	-								Q9NSV2	RNA	SNP	ENST00000397112.4	37																																																																																						0.597	GOLGA2B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000396439.2			2	2	1	0	0.0784	1	0.0791174	2	2				
STRADA	92335	broad.mit.edu	37	17	61791372	61791372	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:61791372C>A	ENST00000336174.6	-	5	332	c.220G>T	c.(220-222)Gtg>Ttg	p.V74L	STRADA_ENST00000447001.3_Intron|STRADA_ENST00000582137.1_Missense_Mutation_p.V45L|RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000580039.1_Intron|STRADA_ENST00000392950.4_Missense_Mutation_p.V37L|STRADA_ENST00000375840.4_Missense_Mutation_p.V16L|STRADA_ENST00000245865.5_Missense_Mutation_p.V16L|STRADA_ENST00000579340.1_Missense_Mutation_p.V16L	NM_001003787.2	NP_001003787.1	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	74	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|protein export from nucleus (GO:0006611)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						ATACCTATCACAGTGAGCAGC	0.537																																						ENST00000245865.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						c.(46-48)Gtg>Ttg		STE20-related kinase adaptor alpha							154.0	126.0	136.0					17																	61791372		2203	4300	6503	SO:0001583	missense	92335				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity	g.chr17:61791372C>A	AF308302	CCDS11642.1, CCDS32703.1, CCDS42367.1, CCDS54156.1, CCDS58585.1	17q23.3	2014-09-04			ENSG00000266173	ENSG00000266173			30172	protein-coding gene	gene with protein product	"""STE20-like pseudokinase"""	608626				12805220, 17921699	Standard	NM_153335		Approved	NY-BR-96, LYK5, Stlk, STRAD	uc002jbm.3	Q7RTN6	OTTHUMG00000178908	ENST00000336174.6:c.220G>T	17.37:g.61791372C>A	ENSP00000336655:p.Val74Leu					STRADA_ENST00000447001.3_Intron|STRADA_ENST00000392950.4_Missense_Mutation_p.V37L|STRADA_ENST00000336174.6_Missense_Mutation_p.V74L|RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000580039.1_Intron|STRADA_ENST00000582137.1_Missense_Mutation_p.V45L|STRADA_ENST00000375840.4_Missense_Mutation_p.V16L|STRADA_ENST00000579340.1_Missense_Mutation_p.V16L	p.V16L			Q7RTN6	STRAA_HUMAN			4	255	-			74					B4DDE3|B4DW17|J3KTC9|Q5JPI2|Q7Z4K9|Q8NC31|Q8NCF1|Q9H272	Missense_Mutation	SNP	ENST00000336174.6	37	c.46G>T	CCDS32703.1	.	.	.	.	.	.	.	.	.	.	C	9.185	1.024454	0.19433	.	.	ENSG00000125695	ENST00000336174;ENST00000375840;ENST00000392950;ENST00000245865	T;T;T	0.73469	-0.75;-0.75;1.87	5.95	-9.54	0.00572	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.563955	0.20041	N	0.100505	T	0.53110	0.1776	N	0.17872	0.535	0.09310	N	0.999999	B;B;B;B;B;B	0.10296	0.0;0.003;0.0;0.001;0.003;0.001	B;B;B;B;B;B	0.10450	0.001;0.005;0.001;0.003;0.004;0.004	T	0.11641	-1.0579	10	0.16896	T	0.51	.	19.5303	0.95226	0.0:0.2359:0.0:0.7641	.	45;16;16;37;37;74	B4DW17;Q5JPI2;Q86YC8;Q7RTN6-2;Q7RTN6-3;Q7RTN6	.;.;.;.;.;STRAA_HUMAN	L	74;16;37;36	ENSP00000336655:V74L;ENSP00000365000:V16L;ENSP00000376677:V37L	ENSP00000245865:V36L	V	-	1	0	STRADA	59145104	0.001000	0.12720	0.001000	0.08648	0.206000	0.24218	-0.829000	0.04415	-2.036000	0.00922	-0.302000	0.09304	GTG		0.537	STRADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443894.1			27	86	1	0	3.73988e-18	1	5.2976e-18	27	86				
SIAH3	283514	broad.mit.edu	37	13	46425705	46425705	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr13:46425705C>G	ENST00000400405.2	-	1	166	c.60G>C	c.(58-60)caG>caC	p.Q20H		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	20					multicellular organismal development (GO:0007275)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						CCTTGTAGTGCTGAAACCGGA	0.502																																						ENST00000400405.2																			0				large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						c.(58-60)caG>caC		siah E3 ubiquitin protein ligase family member 3							80.0	89.0	86.0					13																	46425705		1973	4170	6143	SO:0001583	missense	283514				multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding	g.chr13:46425705C>G		CCDS41883.1	13q14.12	2012-02-23	2012-02-23		ENSG00000215475	ENSG00000215475			30553	protein-coding gene	gene with protein product		615609	"""seven in absentia homolog 3 (Drosophila)"""			12477932	Standard	NM_198849		Approved	FLJ39203	uc001vap.3	Q8IW03	OTTHUMG00000016862	ENST00000400405.2:c.60G>C	13.37:g.46425705C>G	ENSP00000383256:p.Gln20His						p.Q20H	NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN			1	166	-			20					B7ZBP0|Q8N8M6	Missense_Mutation	SNP	ENST00000400405.2	37	c.60G>C	CCDS41883.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.546625	0.45383	.	.	ENSG00000215475	ENST00000400405	.	.	.	5.25	3.53	0.40419	.	0.171581	0.39985	U	0.001218	T	0.50069	0.1594	N	0.24115	0.695	0.34212	D	0.674367	D	0.61697	0.99	D	0.72982	0.979	T	0.61912	-0.6965	9	0.87932	D	0	.	8.1284	0.31012	0.0:0.7583:0.0:0.2417	.	20	Q8IW03	SIAH3_HUMAN	H	20	.	ENSP00000383256:Q20H	Q	-	3	2	SIAH3	45323706	0.998000	0.40836	1.000000	0.80357	0.781000	0.44180	0.337000	0.19841	0.724000	0.32296	0.655000	0.94253	CAG		0.502	SIAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044788.2	NM_198849		26	52	0	0	0	1	0	26	52				
OR2F1	26211	broad.mit.edu	37	7	143657178	143657178	+	Missense_Mutation	SNP	G	G	A	rs141187562	byFrequency	TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:143657178G>A	ENST00000392899.1	+	1	152	c.115G>A	c.(115-117)Gtg>Atg	p.V39M	RP4-669B10.3_ENST00000466281.1_lincRNA	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	39					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(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TGTGGTGACCGTGCTGGGGAA	0.522													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		18104	0.0		0.0	False		,,,				2504	0.0					ENST00000392899.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34						c.(115-117)Gtg>Atg		olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)		G	MET/VAL	7,4399	12.9+/-30.5	0,7,2196	294.0	270.0	278.0		115	2.9	0.8	7	dbSNP_134	278	0,8600		0,0,4300	yes	missense	OR2F1	NM_012369.2	21	0,7,6496	AA,AG,GG		0.0,0.1589,0.0538	benign	39/318	143657178	7,12999	2203	4300	6503	SO:0001583	missense	26211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143657178G>A	U56421	CCDS5887.1	7q35	2013-06-03	2013-06-03		ENSG00000213215	ENSG00000213215		"""GPCR / Class A : Olfactory receptors"""	8246	protein-coding gene	gene with protein product		608497	"""olfactory receptor, family 2, subfamily F, member 1"""	OR2F4, OR2F5, OR2F3, OR2F3P		9500546	Standard	NM_012369		Approved	OLF3, OR7-140, OR7-139, OR14-60	uc003wds.1	Q13607	OTTHUMG00000157771	ENST00000392899.1:c.115G>A	7.37:g.143657178G>A	ENSP00000376633:p.Val39Met						p.V39M	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN			1	152	+	Melanoma(164;0.0903)		39					A4D2G1|Q6IFP7|Q96R49|Q9UDX1	Missense_Mutation	SNP	ENST00000392899.1	37	c.115G>A	CCDS5887.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	4.749	0.139346	0.09083	0.001589	0.0	ENSG00000213215	ENST00000392899	T	0.00711	5.8	5.65	2.91	0.33838	.	0.429955	0.19719	N	0.107627	T	0.01189	0.0039	M	0.62723	1.935	0.20403	N	0.999902	B	0.28933	0.228	B	0.24006	0.05	T	0.41233	-0.9520	10	0.59425	D	0.04	-14.5961	10.1319	0.42685	0.0751:0.2573:0.6677:0.0	.	39	Q13607	OR2F1_HUMAN	M	39	ENSP00000376633:V39M	ENSP00000376633:V39M	V	+	1	0	OR2F1	143288111	0.000000	0.05858	0.796000	0.32109	0.211000	0.24417	-0.452000	0.06787	0.490000	0.27771	-2.100000	0.00362	GTG		0.522	OR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349581.1			51	280	0	0	0	1	0	51	280				
ZBED4	9889	broad.mit.edu	37	22	50280806	50280806	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr22:50280806T>G	ENST00000216268.5	+	2	3973	c.3496T>G	c.(3496-3498)Tta>Gta	p.L1166V		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	1166						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GAATCTTCCCTTAATATACTT	0.483																																						ENST00000216268.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(3496-3498)Tta>Gta		zinc finger, BED-type containing 4							40.0	41.0	41.0					22																	50280806		2203	4300	6503	SO:0001583	missense	9889					cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	g.chr22:50280806T>G	AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.3496T>G	22.37:g.50280806T>G	ENSP00000216268:p.Leu1166Val						p.L1166V	NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	2	3973	+		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	1166					B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	ENST00000216268.5	37	c.3496T>G	CCDS33677.1	.	.	.	.	.	.	.	.	.	.	T	14.81	2.645277	0.47258	.	.	ENSG00000100426	ENST00000216268	T	0.24723	1.84	5.18	1.9	0.25705	Ribonuclease H-like (1);	0.000000	0.64402	D	0.000008	T	0.34919	0.0914	L	0.36672	1.1	0.47698	D	0.999491	D	0.76494	0.999	D	0.80764	0.994	T	0.01697	-1.1293	10	0.41790	T	0.15	-11.8833	8.9908	0.36022	0.0:0.2127:0.0:0.7873	.	1166	O75132	ZBED4_HUMAN	V	1166	ENSP00000216268:L1166V	ENSP00000216268:L1166V	L	+	1	2	ZBED4	48666810	1.000000	0.71417	0.958000	0.39756	0.981000	0.71138	2.969000	0.49232	0.108000	0.17862	0.533000	0.62120	TTA		0.483	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838		17	58	0	0	0	1	0	17	58				
ACTL7B	10880	broad.mit.edu	37	9	111617225	111617225	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:111617225G>A	ENST00000374667.3	-	1	2014	c.986C>T	c.(985-987)aCg>aTg	p.T329M		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	329						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CTTGAAGCCCGTGTCCTGGCA	0.667																																						ENST00000374667.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(985-987)aCg>aTg		actin-like 7B							37.0	44.0	42.0					9																	111617225		2200	4290	6490	SO:0001583	missense	10880					actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	g.chr9:111617225G>A	BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.986C>T	9.37:g.111617225G>A	ENSP00000363799:p.Thr329Met						p.T329M	NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN			1	2014	-			329					B2R9Q2|Q5JSV1	Missense_Mutation	SNP	ENST00000374667.3	37	c.986C>T	CCDS6771.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.920846	0.33908	.	.	ENSG00000148156	ENST00000374667	T	0.07800	3.16	5.24	2.36	0.29203	.	0.622917	0.13219	N	0.404560	T	0.03348	0.0097	N	0.02296	-0.605	0.09310	N	1	P	0.43477	0.808	B	0.39258	0.295	T	0.35724	-0.9777	10	0.87932	D	0	.	6.7141	0.23294	0.3619:0.0:0.6381:0.0	.	329	Q9Y614	ACL7B_HUMAN	M	329	ENSP00000363799:T329M	ENSP00000363799:T329M	T	-	2	0	ACTL7B	110657046	0.000000	0.05858	0.013000	0.15412	0.917000	0.54804	0.936000	0.28938	0.587000	0.29643	0.561000	0.74099	ACG		0.667	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053571.1	NM_006686		9	187	0	0	0	1	0	9	187				
ADSSL1	122622	broad.mit.edu	37	14	105204721	105204721	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr14:105204721G>A	ENST00000330877.2	+	3	389	c.304G>A	c.(304-306)Gtg>Atg	p.V102M	ADSSL1_ENST00000332972.5_Missense_Mutation_p.V145M	NM_152328.3	NP_689541.1			adenylosuccinate synthase like 1											central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)		AGGCAACGGGGTGGTCATCCA	0.527																																						ENST00000332972.5																			0				central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11						c.(433-435)Gtg>Atg		adenylosuccinate synthase like 1	L-Aspartic Acid(DB00128)						108.0	94.0	99.0					14																	105204721		2203	4300	6503	SO:0001583	missense	122622				AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding	g.chr14:105204721G>A	AK095921	CCDS9990.1, CCDS9991.1	14q32.33	2010-08-05			ENSG00000185100	ENSG00000185100			20093	protein-coding gene	gene with protein product		612498					Standard	NM_199165		Approved	FLJ38602	uc001ype.3	Q8N142		ENST00000330877.2:c.304G>A	14.37:g.105204721G>A	ENSP00000331260:p.Val102Met					ADSSL1_ENST00000330877.2_Missense_Mutation_p.V102M	p.V145M	NM_199165.1	NP_954634.1	Q8N142	PURA1_HUMAN	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	3	592	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	102						Missense_Mutation	SNP	ENST00000330877.2	37	c.433G>A	CCDS9990.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749248	0.69533	.	.	ENSG00000185100	ENST00000330877;ENST00000332972	T;T	0.54675	0.56;0.56	3.64	3.64	0.41730	.	0.000000	0.85682	D	0.000000	T	0.67411	0.2890	M	0.71581	2.175	0.80722	D	1	D;D	0.63046	0.99;0.992	P;P	0.62089	0.846;0.898	T	0.69064	-0.5244	10	0.36615	T	0.2	-3.9478	15.3018	0.73958	0.0:0.0:1.0:0.0	.	145;102	Q8N142-2;Q8N142	.;PURA1_HUMAN	M	102;145	ENSP00000331260:V102M;ENSP00000333019:V145M	ENSP00000331260:V102M	V	+	1	0	ADSSL1	104275766	1.000000	0.71417	0.793000	0.32043	0.637000	0.38172	9.431000	0.97494	1.585000	0.49928	0.491000	0.48974	GTG		0.527	ADSSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410529.1			9	56	0	0	0	1	0	9	56				
PRRC2B	84726	broad.mit.edu	37	9	134351501	134351501	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:134351501G>T	ENST00000357304.4	+	15	4040	c.3985G>T	c.(3985-3987)Gag>Tag	p.E1329*	PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1329							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GTGGGGACCCGAGGAGGAGCC	0.687											OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000357304.4																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						c.(3985-3987)Gag>Tag		proline-rich coiled-coil 2B							27.0	33.0	31.0					9																	134351501		1890	4104	5994	SO:0001587	stop_gained	84726						protein binding	g.chr9:134351501G>T	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.3985G>T	9.37:g.134351501G>T	ENSP00000349856:p.Glu1329*		OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1610	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000458550.1_Intron	p.E1329*	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN			15	4040	+			1329					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Nonsense_Mutation	SNP	ENST00000357304.4	37	c.3985G>T	CCDS48044.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.4|22.4	4.281037|4.281037	0.80692|0.80692	.|.	.|.	ENSG00000130723|ENSG00000130723	ENST00000357304;ENST00000418650|ENST00000451855	.|.	.|.	.|.	5.66|5.66	4.74|4.74	0.60224|0.60224	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70692	.|0.3253	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69975	.|-0.4999	.|4	0.07644|.	T|.	0.81|.	.|.	14.8127|14.8127	0.70008|0.70008	0.0:0.0:0.855:0.145|0.0:0.0:0.855:0.145	.|.	.|.	.|.	.|.	X|L	1329;625|62	.|.	ENSP00000349856:E1329X|.	E|R	+|+	1|2	0|0	PRRC2B|PRRC2B	133341322|133341322	1.000000|1.000000	0.71417|0.71417	0.671000|0.671000	0.29857|0.29857	0.645000|0.645000	0.38454|0.38454	7.581000|7.581000	0.82535|0.82535	1.334000|1.334000	0.45468|0.45468	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.687	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				28	82	1	0	1.77063e-15	1	2.40233e-15	28	82				
COL6A6	131873	broad.mit.edu	37	3	130368271	130368271	+	Silent	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:130368271C>A	ENST00000358511.6	+	32	5629	c.5598C>A	c.(5596-5598)atC>atA	p.I1866I	COL6A6_ENST00000453409.2_Silent_p.I1866I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1866	Nonhelical region.|VWFA 8. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CGAGAAAAATCGCCACATTTT	0.552																																						ENST00000358511.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(5596-5598)atC>atA		collagen, type VI, alpha 6							26.0	27.0	26.0					3																	130368271		2017	4159	6176	SO:0001819	synonymous_variant	131873				axon guidance|cell adhesion	collagen		g.chr3:130368271C>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.5598C>A	3.37:g.130368271C>A						COL6A6_ENST00000453409.2_Silent_p.I1866I	p.I1866I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			32	5629	+			1866			Nonhelical region.|VWFA 8.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	ENST00000358511.6	37	c.5598C>A	CCDS46911.1																																																																																				0.552	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		6	36	1	0	3.59834e-05	1	3.9459e-05	6	36				
FBXO18	84893	broad.mit.edu	37	10	5951148	5951148	+	Missense_Mutation	SNP	C	C	T	rs184032310		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:5951148C>T	ENST00000362091.4	+	5	1026	c.911C>T	c.(910-912)cCg>cTg	p.P304L	FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000379999.5_Missense_Mutation_p.P355L|FBXO18_ENST00000470089.1_3'UTR	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	304					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						AAGTGCTCTCCGAGTGTGGAT	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		16877	0.0		0.001	False		,,,				2504	0.0					ENST00000379999.5																			0				NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						c.(1063-1065)cCg>cTg		F-box protein, helicase, 18							91.0	83.0	86.0					10																	5951148		2203	4300	6503	SO:0001583	missense	84893				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr10:5951148C>T	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.911C>T	10.37:g.5951148C>T	ENSP00000355415:p.Pro304Leu					FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000362091.4_Missense_Mutation_p.P304L|FBXO18_ENST00000379994.1_Missense_Mutation_p.P41L	p.P355L	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN			6	1168	+			304					Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	ENST00000362091.4	37	c.1064C>T	CCDS7072.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	9.203	1.028966	0.19512	.	.	ENSG00000134452	ENST00000362091;ENST00000544954;ENST00000379999;ENST00000379994	.	.	.	4.99	3.96	0.45880	.	0.460842	0.24059	N	0.041936	T	0.16428	0.0395	N	0.22421	0.69	0.31498	N	0.665146	P;P;P	0.48089	0.905;0.659;0.659	B;B;B	0.29598	0.104;0.036;0.036	T	0.16719	-1.0393	9	0.45353	T	0.12	-6.8032	7.1221	0.25450	0.2244:0.5077:0.2679:0.0	.	355;304;230	Q8NFZ0-2;Q8NFZ0;Q2TAK1	.;FBX18_HUMAN;.	L	304;41;355;41	.	ENSP00000355415:P304L	P	+	2	0	FBXO18	5991154	0.703000	0.27826	0.971000	0.41717	0.042000	0.13812	1.118000	0.31246	2.478000	0.83669	0.561000	0.74099	CCG		0.572	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		23	78	0	0	0	1	0	23	78				
ARHGAP5	394	broad.mit.edu	37	14	32562840	32562840	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr14:32562840C>T	ENST00000345122.3	+	2	3280	c.2965C>T	c.(2965-2967)Cct>Tct	p.P989S	ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.P989S|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.P989S|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.P989S	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	989					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AGAAGCACCACCTCCTTATAG	0.408																																					NSCLC(9;77 350 3443 29227 41353)	ENST00000345122.3																			0				NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55						c.(2965-2967)Cct>Tct		Rho GTPase activating protein 5							112.0	107.0	109.0					14																	32562840		2203	4300	6503	SO:0001583	missense	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32562840C>T	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.2965C>T	14.37:g.32562840C>T	ENSP00000371897:p.Pro989Ser					ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.P989S|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.P989S|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.P989S	p.P989S	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	3280	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		989					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	c.2965C>T	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.612839	0.66672	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.10668	2.85;2.85;2.85;2.85	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.24198	0.0586	M	0.66939	2.045	0.80722	D	1	P;P	0.45827	0.867;0.791	P;B	0.49047	0.599;0.395	T	0.00086	-1.2095	10	0.41790	T	0.15	.	20.1421	0.98061	0.0:1.0:0.0:0.0	.	989;989	Q13017-2;Q13017	.;RHG05_HUMAN	S	989	ENSP00000452222:P989S;ENSP00000441692:P989S;ENSP00000371897:P989S;ENSP00000393307:P989S	ENSP00000371897:P989S	P	+	1	0	ARHGAP5	31632591	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.836000	0.97738	0.655000	0.94253	CCT		0.408	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		36	149	0	0	0	1	0	36	149				
MDGA1	266727	broad.mit.edu	37	6	37623650	37623650	+	Silent	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:37623650C>A	ENST00000434837.3	-	4	1583	c.405G>T	c.(403-405)acG>acT	p.T135T	MDGA1_ENST00000297153.7_Silent_p.T135T|MDGA1_ENST00000505425.1_Silent_p.T135T	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	135	Ig-like 2.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						TCTGGTGCACCGTCAGCATTG	0.617																																						ENST00000434837.2																			0				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						c.(403-405)acG>acT		MAM domain containing glycosylphosphatidylinositol anchor 1							36.0	37.0	37.0					6																	37623650		2119	4212	6331	SO:0001819	synonymous_variant	266727				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane		g.chr6:37623650C>A	AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.405G>T	6.37:g.37623650C>A						MDGA1_ENST00000505425.1_Silent_p.T135T|MDGA1_ENST00000297153.7_Silent_p.T135T	p.T135T	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN			4	1583	-			135			Ig-like 2.		A6NHG0|Q8NBE3	Silent	SNP	ENST00000434837.3	37	c.405G>T	CCDS47417.1																																																																																				0.617	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040419.3			6	23	1	0	3.59834e-05	1	3.9459e-05	6	23				
FAT4	79633	broad.mit.edu	37	4	126336241	126336241	+	Silent	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:126336241G>A	ENST00000394329.3	+	5	6136	c.6123G>A	c.(6121-6123)ttG>ttA	p.L2041L	FAT4_ENST00000335110.5_Silent_p.L339L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2041	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCATTATTTTGTTGGATGTAA	0.408																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(6121-6123)ttG>ttA		FAT atypical cadherin 4							165.0	166.0	166.0					4																	126336241		2203	4300	6503	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126336241G>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6123G>A	4.37:g.126336241G>A						FAT4_ENST00000335110.5_Silent_p.L339L	p.L2041L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			5	6136	+			2041			Cadherin 19.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.6123G>A	CCDS3732.3																																																																																				0.408	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		53	204	0	0	0	1	0	53	204				
SLAMF6	114836	broad.mit.edu	37	1	160466127	160466127	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:160466127C>A	ENST00000368057.3	-	2	166	c.106G>T	c.(106-108)Gag>Tag	p.E36*	SLAMF6_ENST00000368055.1_Intron|SLAMF6_ENST00000368059.3_Nonsense_Mutation_p.E36*			Q96DU3	SLAF6_HUMAN	SLAM family member 6	36	Ig-like V-type.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			GTTACTGACTCCCCCAGAATC	0.443																																						ENST00000368059.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22						c.(106-108)Gag>Tag		SLAM family member 6							187.0	185.0	186.0					1																	160466127		2203	4300	6503	SO:0001587	stop_gained	114836					integral to membrane|plasma membrane	receptor activity	g.chr1:160466127C>A	AL832854	CCDS1205.1, CCDS53393.1, CCDS53394.1	1q23.1	2013-01-29			ENSG00000162739	ENSG00000162739		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21392	protein-coding gene	gene with protein product		606446				11489943	Standard	NM_052931		Approved	KALI, NTBA, KALIb, Ly108, SF2000, NTB-A, CD352	uc001fwe.2	Q96DU3	OTTHUMG00000022729	ENST00000368057.3:c.106G>T	1.37:g.160466127C>A	ENSP00000357036:p.Glu36*					SLAMF6_ENST00000368057.3_Nonsense_Mutation_p.E36*|SLAMF6_ENST00000368055.1_Intron	p.E36*	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0923)		2	175	-	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		36					A6NMW2|B2R8X8|Q14CF0|Q5TAS4|Q5TAS6|Q5TAT3|Q96DV0	Nonsense_Mutation	SNP	ENST00000368057.3	37	c.106G>T	CCDS53394.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.804466	0.50315	.	.	ENSG00000162739	ENST00000368059;ENST00000368057	.	.	.	4.95	0.989	0.19802	.	0.453447	0.24866	N	0.034963	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-13.644	6.879	0.24163	0.0:0.6138:0.0:0.3862	.	.	.	.	X	36	.	ENSP00000357036:E36X	E	-	1	0	SLAMF6	158732751	0.008000	0.16893	0.017000	0.16124	0.016000	0.09150	0.557000	0.23454	0.303000	0.22785	0.655000	0.94253	GAG		0.443	SLAMF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059010.1	NM_052931		53	319	1	0	2.84144e-21	1	4.17032e-21	53	319				
HAPLN3	145864	broad.mit.edu	37	15	89430511	89430511	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr15:89430511C>A	ENST00000359595.3	-	2	233	c.19G>T	c.(19-21)Gtc>Ttc	p.V7F	HAPLN3_ENST00000562889.1_Missense_Mutation_p.V69F	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	7					cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)				Hyaluronan(DB08818)	AGCAACGGGACCAGGAGCAAC	0.607																																						ENST00000359595.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17						c.(19-21)Gtc>Ttc		hyaluronan and proteoglycan link protein 3							101.0	90.0	94.0					15																	89430511		2200	4299	6499	SO:0001583	missense	145864				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr15:89430511C>A	AY262759	CCDS10346.1	15q26.1	2013-01-11			ENSG00000140511	ENSG00000140511		"""Immunoglobulin superfamily / V-set domain containing"""	21446	protein-coding gene	gene with protein product			"""extracellular link domain containing, 1"""	EXLD1		12663660	Standard	NM_178232		Approved	HsT19883	uc002bnc.3	Q96S86	OTTHUMG00000148680	ENST00000359595.3:c.19G>T	15.37:g.89430511C>A	ENSP00000352606:p.Val7Phe					HAPLN3_ENST00000562889.1_Missense_Mutation_p.V69F	p.V7F	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN			2	233	-	Lung NSC(78;0.0392)|all_lung(78;0.077)		7					A8K7P0	Missense_Mutation	SNP	ENST00000359595.3	37	c.19G>T	CCDS10346.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.787741	0.31593	.	.	ENSG00000140511	ENST00000359595	T	0.06608	3.28	3.89	-0.644	0.11479	.	0.977882	0.08342	N	0.960747	T	0.05044	0.0135	L	0.36672	1.1	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.44742	-0.9308	10	0.62326	D	0.03	-4.0451	1.73	0.02930	0.1416:0.357:0.3052:0.1961	.	7;7	A8K7T8;Q96S86	.;HPLN3_HUMAN	F	7	ENSP00000352606:V7F	ENSP00000352606:V7F	V	-	1	0	HAPLN3	87231515	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	0.147000	0.16202	-0.141000	0.11374	0.655000	0.94253	GTC		0.607	HAPLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309070.1	NM_178232		11	40	1	0	0.00136819	1	0.00142543	11	40				
DNM1P46	196968	broad.mit.edu	37	15	100331990	100331990	+	RNA	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr15:100331990T>A	ENST00000341853.1	-	0	2201				AC090825.1_ENST00000408584.1_RNA|RN7SL484P_ENST00000462651.2_RNA	NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										CCATTTCACCTGTGACCAACA	0.552																																						ENST00000341853.1																			0																				40.0	40.0	40.0					15																	100331990		876	1991	2867			196968							g.chr15:100331990T>A	AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100331990T>A								NR_003260.1						0	2201	-								Q3ZCN3	RNA	SNP	ENST00000341853.1	37																																																																																						0.552	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1	NR_003260		16	49	0	0	0	1	0	16	49				
CUBN	8029	broad.mit.edu	37	10	16941115	16941115	+	Silent	SNP	G	G	T	rs147986316		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:16941115G>T	ENST00000377833.4	-	54	8543	c.8478C>A	c.(8476-8478)ccC>ccA	p.P2826P		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2826	CUB 21. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGCTGTTTTCGGGAAAATTCT	0.423																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(8476-8478)ccC>ccA		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						142.0	132.0	135.0					10																	16941115		2203	4300	6503	SO:0001819	synonymous_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16941115G>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.8478C>A	10.37:g.16941115G>T							p.P2826P	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			54	8543	-			2826			CUB 21.		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.8478C>A	CCDS7113.1																																																																																				0.423	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		23	97	1	0	1.22574e-08	1	1.46708e-08	23	97				
LIN28A	79727	broad.mit.edu	37	1	26752798	26752798	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:26752798A>C	ENST00000326279.6	+	4	593	c.479A>C	c.(478-480)aAg>aCg	p.K160T	LIN28A_ENST00000254231.4_Missense_Mutation_p.K160T	NM_024674.4	NP_078950.1	Q9H9Z2	LN28A_HUMAN	lin-28 homolog A (C. elegans)	160					germ cell development (GO:0007281)|miRNA catabolic process (GO:0010587)|negative regulation of glial cell differentiation (GO:0045686)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of translation (GO:0045727)|pre-miRNA processing (GO:0031054)|regulation of gene silencing by miRNA (GO:0060964)|regulation of transcription, DNA-templated (GO:0006355)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						CAGCCCAAGAAGTGCCACTTC	0.522																																						ENST00000326279.6																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						c.(478-480)aAg>aCg		lin-28 homolog A (C. elegans)							71.0	67.0	69.0					1																	26752798		2203	4300	6503	SO:0001583	missense	79727				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance	cytoplasmic mRNA processing body|nucleolus|stress granule	DNA binding|zinc ion binding	g.chr1:26752798A>C	AF521099	CCDS280.1	1p35.3	2013-01-09	2010-04-06	2010-04-06	ENSG00000131914	ENSG00000131914		"""Zinc fingers, CCHC domain containing"""	15986	protein-coding gene	gene with protein product		611043	"""lin-28 homolog (C. elegans)"""	LIN28		12798299	Standard	XM_006710899		Approved	LIN-28, FLJ12457, ZCCHC1, CSDD1	uc001bmj.3	Q9H9Z2	OTTHUMG00000003550	ENST00000326279.6:c.479A>C	1.37:g.26752798A>C	ENSP00000363314:p.Lys160Thr					LIN28A_ENST00000254231.4_Missense_Mutation_p.K160T	p.K160T	NM_024674.4	NP_078950.1	Q9H9Z2	LN28A_HUMAN			4	593	+			160						Missense_Mutation	SNP	ENST00000326279.6	37	c.479A>C	CCDS280.1	.	.	.	.	.	.	.	.	.	.	A	17.44	3.390484	0.62066	.	.	ENSG00000131914	ENST00000326279;ENST00000254231	T;T	0.45668	0.89;0.89	4.71	4.71	0.59529	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (1);	0.000000	0.64402	D	0.000003	T	0.56819	0.2011	L	0.58810	1.83	0.27785	N	0.943018	D	0.65815	0.995	P	0.62560	0.904	T	0.54761	-0.8245	10	0.66056	D	0.02	.	13.5248	0.61589	1.0:0.0:0.0:0.0	.	160	Q9H9Z2	LN28A_HUMAN	T	160	ENSP00000363314:K160T;ENSP00000254231:K160T	ENSP00000254231:K160T	K	+	2	0	LIN28A	26625385	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.176000	0.77643	1.979000	0.57680	0.454000	0.30748	AAG		0.522	LIN28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009891.2	NM_024674		23	61	0	0	0	1	0	23	61				
CACNA1E	777	broad.mit.edu	37	1	181767889	181767889	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:181767889G>T	ENST00000367573.2	+	48	6861	c.6861G>T	c.(6859-6861)agG>agT	p.R2287S	CACNA1E_ENST00000358338.5_Missense_Mutation_p.R2176S|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R2268S|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1851S|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R2244S|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R2225S|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R2238S	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2287	Poly-Arg.				calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGCGGCGGAGGCGCGGGGGGC	0.647																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(6673-6675)agG>agT		calcium channel, voltage-dependent, R type, alpha 1E subunit							14.0	17.0	16.0					1																	181767889		1968	4139	6107	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181767889G>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.6861G>T	1.37:g.181767889G>T	ENSP00000356545:p.Arg2287Ser					CACNA1E_ENST00000357570.5_Missense_Mutation_p.R2238S|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R2176S|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R2287S|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R2244S|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R2268S|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1851S	p.R2225S	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			46	6840	+			2287					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.6675G>T	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.665732	0.67700	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96265	-3.88;-3.88;-3.86;-3.88;-3.96;-3.87;-3.86	5.59	5.59	0.84812	.	0.458661	0.24226	N	0.040393	D	0.96137	0.8741	N	0.22421	0.69	0.50813	D	0.999892	P;D	0.57899	0.955;0.981	P;D	0.69142	0.54;0.962	D	0.94717	0.7897	10	0.22109	T	0.4	.	19.2073	0.93736	0.0:0.0:1.0:0.0	.	2225;2244	Q15878-2;Q15878-3	.;.	S	2244;2225;2238;2176;1851;2268;2287	ENSP00000356542:R2244S;ENSP00000434814:R2225S;ENSP00000350183:R2238S;ENSP00000351101:R2176S;ENSP00000356539:R1851S;ENSP00000353222:R2268S;ENSP00000356545:R2287S	ENSP00000350183:R2238S	R	+	3	2	CACNA1E	180034512	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.574000	0.53863	2.622000	0.88805	0.563000	0.77884	AGG		0.647	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		8	12	1	0	1.12685e-05	1	1.25894e-05	8	12				
DECR1	1666	broad.mit.edu	37	8	91029485	91029485	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:91029485G>A	ENST00000220764.2	+	2	291	c.203G>A	c.(202-204)gGt>gAt	p.G68D	DECR1_ENST00000519007.1_3'UTR|DECR1_ENST00000522161.1_Missense_Mutation_p.G59D	NM_001359.1	NP_001350.1	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	68					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|NADPH binding (GO:0070402)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			ACTGGGGGAGGTACTGGCCTT	0.458																																						ENST00000522161.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15						c.(175-177)gGt>gAt		2,4-dienoyl CoA reductase 1, mitochondrial							96.0	101.0	99.0					8																	91029485		2203	4300	6503	SO:0001583	missense	1666				fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH	g.chr8:91029485G>A	L26050	CCDS6250.1	8q21.3	2011-09-14			ENSG00000104325	ENSG00000104325		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	2753	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 18C, member 1"""	222745		DECR		7818482, 19027726	Standard	NM_001359		Approved	SDR18C1	uc003yek.1	Q16698	OTTHUMG00000163829	ENST00000220764.2:c.203G>A	8.37:g.91029485G>A	ENSP00000220764:p.Gly68Asp					DECR1_ENST00000519007.1_3'UTR|DECR1_ENST00000220764.2_Missense_Mutation_p.G68D	p.G59D			Q16698	DECR_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00953)		4	859	+			68					B7Z6B8|Q2M304|Q93085	Missense_Mutation	SNP	ENST00000220764.2	37	c.176G>A	CCDS6250.1	.	.	.	.	.	.	.	.	.	.	G	34	5.403045	0.96030	.	.	ENSG00000104325	ENST00000220764;ENST00000519410;ENST00000522161;ENST00000517761;ENST00000520227	T;D;T;D;D	0.87571	1.88;-2.27;1.88;-2.27;-2.27	5.88	5.88	0.94601	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.95481	0.8532	M	0.92880	3.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95749	0.8790	10	0.87932	D	0	.	20.2163	0.98298	0.0:0.0:1.0:0.0	.	59;68	B7Z6B8;Q16698	.;DECR_HUMAN	D	68;46;59;59;18	ENSP00000220764:G68D;ENSP00000430561:G46D;ENSP00000429779:G59D;ENSP00000427936:G59D;ENSP00000429096:G18D	ENSP00000220764:G68D	G	+	2	0	DECR1	91098661	1.000000	0.71417	0.957000	0.39632	0.981000	0.71138	9.435000	0.97529	2.784000	0.95788	0.655000	0.94253	GGT		0.458	DECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375822.1			35	79	0	0	0	1	0	35	79				
TTN	7273	broad.mit.edu	37	2	179602967	179602967	+	Missense_Mutation	SNP	C	C	T	rs553541436		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:179602967C>T	ENST00000591111.1	-	47	13486	c.13262G>A	c.(13261-13263)cGa>cAa	p.R4421Q	TTN_ENST00000589042.1_Missense_Mutation_p.R4738Q|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R4500Q|TTN_ENST00000460472.2_Missense_Mutation_p.R4375Q|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R3494Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R4567Q			Q8WZ42	TITIN_HUMAN	titin	12176	Ig-like 24.				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)			ATAAATTTCTCGGCCAGCTTT	0.473													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19733	0.0		0.0	False		,,,				2504	0.0					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.(14212-14214)cGa>cAa		titin							60.0	56.0	57.0					2																	179602967		1855	4096	5951	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179602967C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.13262G>A	2.37:g.179602967C>T	ENSP00000465570:p.Arg4421Gln					TTN_ENST00000460472.2_Missense_Mutation_p.R4375Q|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R4500Q|TTN_ENST00000342992.6_Missense_Mutation_p.R3494Q|TTN_ENST00000342175.6_Missense_Mutation_p.R4567Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R4421Q	p.R4738Q	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)		49	14437	-			4421			Ig-like 27.		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.14213G>A		.	.	.	.	.	.	.	.	.	.	C	14.44	2.537138	0.45176	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.67	4.79	0.61399	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.55784	0.1942	L	0.37897	1.145	0.18873	N	0.999981	B;B;B;B	0.26120	0.142;0.142;0.142;0.142	B;B;B;B	0.27500	0.08;0.08;0.08;0.08	T	0.54510	-0.8283	9	0.87932	D	0	.	14.3984	0.67027	0.0:0.9295:0.0:0.0705	.	4375;4500;4567;4421	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	3494;4375;4567;4500;4375	ENSP00000343764:R3494Q;ENSP00000434586:R4375Q;ENSP00000340554:R4567Q;ENSP00000352154:R4500Q	ENSP00000340554:R4567Q	R	-	2	0	TTN	179311212	0.999000	0.42202	0.986000	0.45419	0.989000	0.77384	1.254000	0.32897	1.416000	0.47057	0.462000	0.41574	CGA		0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		16	52	0	0	0	1	0	16	52				
PRDM9	56979	broad.mit.edu	37	5	23524588	23524588	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:23524588G>A	ENST00000296682.3	+	10	1278	c.1096G>A	c.(1096-1098)Ggc>Agc	p.G366S		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	366					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CCAGGAACTGGGCATCAAGTG	0.488										HNSCC(3;0.000094)																												ENST00000296682.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(1096-1098)Ggc>Agc		PR domain containing 9							109.0	111.0	110.0					5																	23524588		1911	4119	6030	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23524588G>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1096G>A	5.37:g.23524588G>A	ENSP00000296682:p.Gly366Ser	HNSCC(3;0.000094)					p.G366S	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			10	1278	+			366					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.1096G>A	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192105	0.58017	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.44881	0.91	4.23	4.23	0.50019	.	.	.	.	.	T	0.57873	0.2083	M	0.64630	1.985	0.37241	D	0.906138	D	0.76494	0.999	D	0.66084	0.941	T	0.65232	-0.6218	9	0.54805	T	0.06	-8.5206	12.4978	0.55937	0.0:0.0:1.0:0.0	.	366	Q9NQV7	PRDM9_HUMAN	S	366;160	ENSP00000296682:G366S	ENSP00000253473:G160S	G	+	1	0	PRDM9	23560345	1.000000	0.71417	0.996000	0.52242	0.235000	0.25334	3.442000	0.52900	2.080000	0.62538	0.597000	0.82753	GGC		0.488	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		25	80	0	0	0	1	0	25	80				
DMD	1756	broad.mit.edu	37	X	32398774	32398774	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chrX:32398774C>A	ENST00000357033.4	-	34	4904	c.4698G>T	c.(4696-4698)ttG>ttT	p.L1566F	DMD_ENST00000378677.2_Missense_Mutation_p.L1562F	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1566	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGCATTTCTCCAACTGTTGCT	0.338																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(4696-4698)ttG>ttT		dystrophin							113.0	100.0	105.0					X																	32398774		2201	4300	6501	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32398774C>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.4698G>T	X.37:g.32398774C>A	ENSP00000354923:p.Leu1566Phe					DMD_ENST00000378677.2_Missense_Mutation_p.L1562F	p.L1566F	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			34	4904	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	1566			Interaction with SYNM (By similarity).		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.4698G>T	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	c	15.62	2.887742	0.52014	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.61627	0.09;0.09	5.57	2.69	0.31865	.	0.000000	0.28125	U	0.016512	T	0.50343	0.1610	L	0.58101	1.795	0.80722	D	1	B;P;B;B;B	0.49307	0.069;0.922;0.041;0.016;0.016	B;B;B;B;B	0.43728	0.063;0.429;0.028;0.019;0.012	T	0.52102	-0.8620	10	0.62326	D	0.03	.	5.0727	0.14615	0.1622:0.559:0.0:0.2788	.	1558;1566;1562;225;222	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	F	1558;225;222;1562;1566;1566;1443	ENSP00000367948:L1562F;ENSP00000354923:L1566F	ENSP00000354923:L1566F	L	-	3	2	DMD	32308695	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.548000	0.45794	1.103000	0.41568	0.534000	0.68092	TTG		0.338	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		45	56	1	0	1.5731e-28	1	2.40007e-28	45	56				
ZNF568	374900	broad.mit.edu	37	19	37441338	37441338	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:37441338C>T	ENST00000333987.7	+	7	1789	c.1283C>T	c.(1282-1284)tCt>tTt	p.S428F	ZNF568_ENST00000415168.1_Missense_Mutation_p.S364F|ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	428					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(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAAGCCTTCTCTCAGAGTTCA	0.398																																						ENST00000415168.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29						c.(1090-1092)tCt>tTt		zinc finger protein 568							70.0	78.0	76.0					19																	37441338		2201	4299	6500	SO:0001583	missense	374900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37441338C>T	BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"""Zinc fingers, C2H2-type"", ""-"""	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000333987.7:c.1283C>T	19.37:g.37441338C>T	ENSP00000334685:p.Ser428Phe					ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000333987.7_Missense_Mutation_p.S428F	p.S364F	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1467	+	Esophageal squamous(110;0.183)		428					B4DS92|E7ER33|Q6N060|Q8NA64	Missense_Mutation	SNP	ENST00000333987.7	37	c.1091C>T	CCDS42558.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.696101	0.30052	.	.	ENSG00000198453	ENST00000333987;ENST00000415168	T;T	0.07327	3.2;3.2	4.09	0.28	0.15682	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36519	N	0.002544	T	0.11965	0.0291	L	0.33137	0.985	0.09310	N	1	D	0.89917	1.0	D	0.77004	0.989	T	0.11348	-1.0591	10	0.40728	T	0.16	.	2.7794	0.05356	0.1783:0.3719:0.3472:0.1026	.	428	Q3ZCX4	ZN568_HUMAN	F	428;364	ENSP00000334685:S428F;ENSP00000394514:S364F	ENSP00000334685:S428F	S	+	2	0	ZNF568	42133178	0.000000	0.05858	0.032000	0.17829	0.976000	0.68499	-5.602000	0.00110	0.440000	0.26502	0.563000	0.77884	TCT		0.398	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	NM_198539		23	109	0	0	0	1	0	23	109				
SIM1	6492	broad.mit.edu	37	6	100841583	100841583	+	Silent	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:100841583C>A	ENST00000369208.3	-	11	2132	c.1350G>T	c.(1348-1350)gcG>gcT	p.A450A	SIM1_ENST00000262901.4_Silent_p.A450A			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	450	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AGTGGTCAAGCGCAAAGCCAT	0.622																																						ENST00000369208.3																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79						c.(1348-1350)gcG>gcT		single-minded family bHLH transcription factor 1							83.0	80.0	81.0					6																	100841583		2203	4300	6503	SO:0001819	synonymous_variant	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100841583C>A	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1350G>T	6.37:g.100841583C>A						SIM1_ENST00000262901.4_Silent_p.A450A	p.A450A			P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	11	2132	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	450			Single-minded C-terminal.		Q5TDP7	Silent	SNP	ENST00000369208.3	37	c.1350G>T	CCDS5045.1																																																																																				0.622	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		43	69	1	0	4.67007e-22	1	6.89348e-22	43	69				
ANKEF1	63926	broad.mit.edu	37	20	10036259	10036259	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr20:10036259A>T	ENST00000378380.3	+	10	2611	c.2282A>T	c.(2281-2283)aAg>aTg	p.K761M	ANKEF1_ENST00000378392.1_Missense_Mutation_p.K761M|SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000488991.1_3'UTR|AL109754.1_ENST00000408554.2_RNA	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	761							calcium ion binding (GO:0005509)										CCTTTTCAGAAGAACATCACA	0.483																																						ENST00000378380.3																			0											c.(2281-2283)aAg>aTg		ankyrin repeat and EF-hand domain containing 1							104.0	96.0	99.0					20																	10036259		2203	4300	6503	SO:0001583	missense	63926							g.chr20:10036259A>T	AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"""EF-hand domain containing"", ""Ankyrin repeat domain containing"""	15803	protein-coding gene	gene with protein product			"""ankyrin repeat domain 5"""	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.2282A>T	20.37:g.10036259A>T	ENSP00000367631:p.Lys761Met					ANKEF1_ENST00000378392.1_Missense_Mutation_p.K761M|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA	p.K761M	NM_198798.1	NP_942093.1					10	2611	+								B3KUQ0|Q9H6Y9	Missense_Mutation	SNP	ENST00000378380.3	37	c.2282A>T	CCDS13108.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.112130	0.77210	.	.	ENSG00000132623	ENST00000378392;ENST00000378380	T;T	0.69806	-0.43;-0.43	5.64	4.55	0.56014	.	0.150792	0.64402	D	0.000020	T	0.68888	0.3050	L	0.59436	1.845	0.44762	D	0.997765	D	0.61697	0.99	P	0.52710	0.707	T	0.69650	-0.5088	10	0.62326	D	0.03	-0.1683	7.6375	0.28274	0.792:0.0:0.208:0.0	.	761	Q9NU02	ANKR5_HUMAN	M	761	ENSP00000367644:K761M;ENSP00000367631:K761M	ENSP00000367631:K761M	K	+	2	0	ANKRD5	9984259	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.441000	0.52893	0.977000	0.38444	0.533000	0.62120	AAG		0.483	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077968.2	NM_022096		14	63	0	0	0	1	0	14	63				
HFM1	164045	broad.mit.edu	37	1	91818635	91818635	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:91818635A>G	ENST00000370425.3	-	15	1902	c.1804T>C	c.(1804-1806)Ttt>Ctt	p.F602L	HFM1_ENST00000370424.3_Missense_Mutation_p.F281L|HFM1_ENST00000462405.1_5'Flank|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	602	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CCAACAGTAAAAGCTCCCTCA	0.308																																						ENST00000370425.3																			0				breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(1804-1806)Ttt>Ctt		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							77.0	72.0	73.0					1																	91818635		1819	4068	5887	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91818635A>G	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.1804T>C	1.37:g.91818635A>G	ENSP00000359454:p.Phe602Leu					HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.F281L	p.F602L	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	15	1902	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	602			Helicase C-terminal.		B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.1804T>C	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	A	34	5.293062	0.95546	.	.	ENSG00000162669	ENST00000370425;ENST00000370424;ENST00000370421;ENST00000541820	T;T	0.44083	0.93;0.93	6.03	6.03	0.97812	Helicase, C-terminal (3);	0.000000	0.42682	U	0.000675	T	0.64811	0.2632	M	0.86805	2.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.989;0.997	T	0.72228	-0.4354	10	0.87932	D	0	.	16.5582	0.84512	1.0:0.0:0.0:0.0	.	281;602	A6NGI5;A2PYH4	.;HFM1_HUMAN	L	602;281;286;635	ENSP00000359454:F602L;ENSP00000359453:F281L	ENSP00000359450:F286L	F	-	1	0	HFM1	91591223	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	8.666000	0.91149	2.308000	0.77769	0.533000	0.62120	TTT		0.308	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		25	68	0	0	0	1	0	25	68				
MAGEA3	4102	broad.mit.edu	37	X	151935918	151935918	+	Silent	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chrX:151935918G>T	ENST00000393902.3	-	3	816	c.249C>A	c.(247-249)tcC>tcA	p.S83S	MAGEA3_ENST00000370278.3_Silent_p.S83S			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	83										endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					AGTCCTCATAGGATTGGCTCC	0.607																																						ENST00000393902.3																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15						c.(247-249)tcC>tcA		melanoma antigen family A, 3							55.0	50.0	52.0					X																	151935918		2202	4286	6488	SO:0001819	synonymous_variant	4102							g.chrX:151935918G>T		CCDS76045.1	Xq28	2009-03-13			ENSG00000221867	ENSG00000221867			6801	protein-coding gene	gene with protein product	"""melanoma-associated antigen 3"", ""antigen MZ2-D"", ""MAGE-3 antigen"", ""cancer/testis antigen family 1, member 3"""	300174		MAGE3		1840703, 8575766	Standard	NM_005362		Approved	HYPD, HIP8, MGC14613, CT1.3	uc004fgp.3	P43357	OTTHUMG00000022640	ENST00000393902.3:c.249C>A	X.37:g.151935918G>T						MAGEA3_ENST00000370278.3_Silent_p.S83S	p.S83S			P43357	MAGA3_HUMAN			3	816	-	Acute lymphoblastic leukemia(192;6.56e-05)		83					Q6FHI6	Silent	SNP	ENST00000393902.3	37	c.249C>A	CCDS14715.1																																																																																				0.607	MAGEA3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058744.1	NM_005362		34	31	1	0	4.14481e-20	1	5.98092e-20	34	31				
AGGF1	55109	broad.mit.edu	37	5	76332480	76332480	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:76332480G>C	ENST00000312916.7	+	4	998	c.616G>C	c.(616-618)Gga>Cga	p.G206R		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	206					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|RNA processing (GO:0006396)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	nucleic acid binding (GO:0003676)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		ATCACAGACTGGATTTAGTTA	0.398																																						ENST00000312916.7																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20						c.(616-618)Gga>Cga		angiogenic factor with G patch and FHA domains 1							72.0	72.0	72.0					5																	76332480		2203	4300	6503	SO:0001583	missense	55109				angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding	g.chr5:76332480G>C	AK001145	CCDS4035.1	5q13.3	2013-10-11			ENSG00000164252	ENSG00000164252		"""G patch domain containing"""	24684	protein-coding gene	gene with protein product		608464				18564129, 17103452	Standard	NM_018046		Approved	VG5Q, HSU84971, FLJ10283, GPATC7, GPATCH7	uc003ket.3	Q8N302	OTTHUMG00000102132	ENST00000312916.7:c.616G>C	5.37:g.76332480G>C	ENSP00000316109:p.Gly206Arg						p.G206R	NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)	4	998	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	206					O00581|Q53YS3|Q9BU84|Q9NW66	Missense_Mutation	SNP	ENST00000312916.7	37	c.616G>C	CCDS4035.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.274560	0.80580	.	.	ENSG00000164252	ENST00000312916	D	0.85861	-2.04	5.09	4.21	0.49690	.	0.199734	0.43260	D	0.000581	D	0.87208	0.6120	L	0.47016	1.485	0.80722	D	1	D	0.61080	0.989	P	0.58780	0.845	D	0.85856	0.1407	9	.	.	.	-14.0612	13.8848	0.63702	0.0751:0.0:0.9249:0.0	.	206	Q8N302	AGGF1_HUMAN	R	206	ENSP00000316109:G206R	.	G	+	1	0	AGGF1	76368236	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.805000	0.69143	1.108000	0.41662	0.585000	0.79938	GGA		0.398	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219971.2	NM_018046		31	106	0	0	0	1	0	31	106				
PLCB4	5332	broad.mit.edu	37	20	9404447	9404447	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr20:9404447A>G	ENST00000378493.1	+	24	2351	c.2336A>G	c.(2335-2337)aAc>aGc	p.N779S	PLCB4_ENST00000378473.3_Missense_Mutation_p.N791S|PLCB4_ENST00000334005.3_Missense_Mutation_p.N779S|PLCB4_ENST00000278655.4_Missense_Mutation_p.N779S|PLCB4_ENST00000414679.2_Missense_Mutation_p.N791S|PLCB4_ENST00000378501.2_Missense_Mutation_p.N779S|PLCB4_ENST00000492632.1_3'UTR			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	779	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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						GATGATAACAACAAGCTGATT	0.478																																						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.(2335-2337)aAc>aGc		phospholipase C, beta 4							89.0	72.0	78.0					20																	9404447		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.chr20:9404447A>G		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.2336A>G	20.37:g.9404447A>G	ENSP00000367754:p.Asn779Ser					PLCB4_ENST00000378493.1_Missense_Mutation_p.N779S|PLCB4_ENST00000378473.3_Missense_Mutation_p.N791S|PLCB4_ENST00000334005.3_Missense_Mutation_p.N779S|PLCB4_ENST00000278655.4_Missense_Mutation_p.N779S|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Missense_Mutation_p.N791S	p.N779S	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN			24	2351	+			779			C2.		B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.2336A>G	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	A	16.38	3.105886	0.56291	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48;2.48	5.52	4.41	0.53225	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.091321	0.85682	N	0.000000	T	0.23649	0.0572	L	0.31157	0.91	0.58432	D	0.999998	B;B;D;B	0.57257	0.067;0.036;0.979;0.034	B;B;D;B	0.74023	0.101;0.006;0.982;0.012	T	0.00875	-1.1531	10	0.45353	T	0.12	.	11.6169	0.51094	0.9298:0.0:0.0702:0.0	.	791;626;779;779	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	S	779;791;779;779;779;627	ENSP00000334105:N779S;ENSP00000367734:N791S;ENSP00000278655:N779S;ENSP00000367754:N779S;ENSP00000367762:N779S;ENSP00000390616:N627S	ENSP00000278655:N779S	N	+	2	0	PLCB4	9352447	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.287000	0.78681	0.911000	0.36747	0.533000	0.62120	AAC		0.478	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			10	37	0	0	0	1	0	10	37				
PPRC1	23082	broad.mit.edu	37	10	103904779	103904779	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:103904779G>C	ENST00000278070.2	+	8	3650	c.3611G>C	c.(3610-3612)gGc>gCc	p.G1204A	PPRC1_ENST00000370012.1_Missense_Mutation_p.G171A|PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000489648.1_Intron	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1204					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CCCGCCAGCGGCGTTGACATT	0.552																																						ENST00000278070.2																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(3610-3612)gGc>gCc		peroxisome proliferator-activated receptor gamma, coactivator-related 1							60.0	62.0	61.0					10																	103904779		2203	4300	6503	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103904779G>C	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.3611G>C	10.37:g.103904779G>C	ENSP00000278070:p.Gly1204Ala					PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000370012.1_Missense_Mutation_p.G171A|PPRC1_ENST00000489648.1_Intron	p.G1204A	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	8	3650	+		Colorectal(252;0.122)	1204					Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.3611G>C	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.651777	0.47362	.	.	ENSG00000148840	ENST00000278070;ENST00000370012	T;T	0.30182	1.94;1.54	5.95	5.05	0.67936	.	0.656229	0.17269	N	0.180472	T	0.24236	0.0587	L	0.36672	1.1	0.80722	D	1	B;B	0.19073	0.033;0.02	B;B	0.17979	0.02;0.009	T	0.04268	-1.0964	10	0.12430	T	0.62	.	13.2945	0.60288	0.0739:0.0:0.9261:0.0	.	1084;1204	Q5VV67-2;Q5VV67	.;PPRC1_HUMAN	A	1204;171	ENSP00000278070:G1204A;ENSP00000359029:G171A	ENSP00000278070:G1204A	G	+	2	0	PPRC1	103894769	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.112000	0.50368	1.526000	0.49068	0.655000	0.94253	GGC		0.552	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		9	39	0	0	0	1	0	9	39				
MYO18B	84700	broad.mit.edu	37	22	26317307	26317307	+	Silent	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr22:26317307C>T	ENST00000407587.2	+	34	5620	c.5451C>T	c.(5449-5451)ctC>ctT	p.L1817L	MYO18B_ENST00000335473.7_Silent_p.L1816L|MYO18B_ENST00000536101.1_Silent_p.L1816L			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1816	Tail.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						ACGTGCAGCTCCTTCTGGGCA	0.557																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(5446-5448)ctC>ctT		myosin XVIIIB							50.0	53.0	52.0					22																	26317307		2091	4223	6314	SO:0001819	synonymous_variant	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26317307C>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.5451C>T	22.37:g.26317307C>T						MYO18B_ENST00000407587.2_Silent_p.L1817L|MYO18B_ENST00000536101.1_Silent_p.L1816L	p.L1816L	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			34	5698	+			1816			Tail.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	37	c.5448C>T																																																																																					0.557	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		4	5	0	0	0	1	0	4	5				
SPATA31E1	286234	broad.mit.edu	37	9	90503659	90503659	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:90503659G>T	ENST00000325643.5	+	4	4323	c.4257G>T	c.(4255-4257)agG>agT	p.R1419S		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	1419					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											ACCACCACAGGCCAAGAATGG	0.602																																						ENST00000325643.5																			0											c.(4255-4257)agG>agT		SPATA31 subfamily E, member 1							31.0	35.0	33.0					9																	90503659		2203	4300	6503	SO:0001583	missense	286234							g.chr9:90503659G>T	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.4257G>T	9.37:g.90503659G>T	ENSP00000322640:p.Arg1419Ser						p.R1419S	NM_178828.4	NP_849150.3					4	4323	+								B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	c.4257G>T	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	g	0.033	-1.325130	0.01309	.	.	ENSG00000177992	ENST00000325643	T	0.03580	3.88	2.18	1.27	0.21489	.	.	.	.	.	T	0.03739	0.0106	L	0.27053	0.805	0.09310	N	1	P	0.46512	0.879	P	0.47744	0.556	T	0.44907	-0.9297	9	0.23302	T	0.38	.	4.8202	0.13387	0.1859:0.0:0.8141:0.0	.	1419	Q6ZUB1	CI079_HUMAN	S	1419	ENSP00000322640:R1419S	ENSP00000322640:R1419S	R	+	3	2	C9orf79	89693479	0.001000	0.12720	0.001000	0.08648	0.006000	0.05464	0.143000	0.16115	0.471000	0.27319	-0.140000	0.14226	AGG		0.602	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		22	72	1	0	2.21704e-12	1	2.86213e-12	22	72				
PGM1	5236	broad.mit.edu	37	1	64117371	64117371	+	Missense_Mutation	SNP	G	G	A	rs201303497		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:64117371G>A	ENST00000371084.3	+	9	1525	c.1312G>A	c.(1312-1314)Gca>Aca	p.A438T	PGM1_ENST00000540265.1_Missense_Mutation_p.A241T|PGM1_ENST00000483707.1_3'UTR|PGM1_ENST00000371083.4_Missense_Mutation_p.A456T	NM_002633.2	NP_002624.2	P36871	PGM1_HUMAN	phosphoglucomutase 1	438					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						AGCTGAGGGCGCAAACAAAAT	0.512													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17958	0.0		0.0	False		,,,				2504	0.0					ENST00000371083.4																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1366-1368)Gca>Aca		phosphoglucomutase 1							136.0	130.0	132.0					1																	64117371		2203	4300	6503	SO:0001583	missense	5236				cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity	g.chr1:64117371G>A	BC019920	CCDS625.1, CCDS53323.1, CCDS53324.1	1p22.1	2012-10-02			ENSG00000079739	ENSG00000079739	5.4.2.2		8905	protein-coding gene	gene with protein product		171900				4517931, 1530890	Standard	NM_002633		Approved		uc010ooz.2	P36871	OTTHUMG00000008968	ENST00000371084.3:c.1312G>A	1.37:g.64117371G>A	ENSP00000360125:p.Ala438Thr					PGM1_ENST00000371084.3_Missense_Mutation_p.A438T|PGM1_ENST00000540265.1_Missense_Mutation_p.A241T|PGM1_ENST00000483707.1_3'UTR	p.A456T	NM_001172818.1	NP_001166289.1	P36871	PGM1_HUMAN			9	1734	+			438					B2R5N9|B4DPV0|Q16105|Q16106|Q5BKZ9|Q6NW22|Q86U74|Q96J40|Q9NTY4	Missense_Mutation	SNP	ENST00000371084.3	37	c.1366G>A	CCDS625.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	27.4	4.830886	0.91036	.	.	ENSG00000079739	ENST00000538673;ENST00000371084;ENST00000540265;ENST00000371083	T;T;T	0.49139	0.79;0.79;0.79	5.69	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.64768	0.2628	M	0.92555	3.32	0.47037	D	0.999295	D;P	0.76494	0.999;0.94	P;B	0.57776	0.827;0.306	T	0.75422	-0.3323	10	0.56958	D	0.05	-42.0023	15.1823	0.72968	0.0679:0.0:0.9321:0.0	.	456;438	P36871-2;P36871	.;PGM1_HUMAN	T	414;438;241;456	ENSP00000360125:A438T;ENSP00000443449:A241T;ENSP00000360124:A456T	ENSP00000360124:A456T	A	+	1	0	PGM1	63889959	1.000000	0.71417	0.265000	0.24526	0.910000	0.53928	9.813000	0.99286	1.540000	0.49301	0.655000	0.94253	GCA		0.512	PGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024868.1	NM_002633		14	37	0	0	0	1	0	14	37				
CPNE7	27132	broad.mit.edu	37	16	89662999	89662999	+	Silent	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr16:89662999C>A	ENST00000268720.5	+	17	2002	c.1872C>A	c.(1870-1872)gcC>gcA	p.A624A	CPNE7_ENST00000319518.8_Silent_p.A549A|CPNE7_ENST00000566398.1_3'UTR	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	624					lipid metabolic process (GO:0006629)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		GTGTCCCTGCCGGAGAGGCCA	0.662																																						ENST00000268720.5																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17						c.(1870-1872)gcC>gcA		copine VII							43.0	43.0	43.0					16																	89662999		2197	4298	6495	SO:0001819	synonymous_variant	27132				lipid metabolic process		transporter activity	g.chr16:89662999C>A	AJ133798	CCDS10980.1, CCDS10981.1	16q24.3	2008-07-03			ENSG00000178773	ENSG00000178773			2320	protein-coding gene	gene with protein product		605689					Standard	NM_014427		Approved		uc002fnq.3	Q9UBL6	OTTHUMG00000138051	ENST00000268720.5:c.1872C>A	16.37:g.89662999C>A						CPNE7_ENST00000566398.1_3'UTR|CPNE7_ENST00000319518.8_Silent_p.A549A	p.A624A	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)	17	2002	+		all_hematologic(23;0.0748)	624						Silent	SNP	ENST00000268720.5	37	c.1872C>A	CCDS10980.1	.	.	.	.	.	.	.	.	.	.	C	4.102	0.016933	0.07959	.	.	ENSG00000178773	ENST00000526232	.	.	.	3.72	0.301	0.15781	.	.	.	.	.	T	0.21801	0.0525	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.23940	-1.0174	4	.	.	.	-17.961	2.8652	0.05599	0.1849:0.5295:0.1793:0.1062	.	.	.	.	Q	77	.	.	P	+	2	0	CPNE7	88190500	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.502000	0.06390	-0.145000	0.11294	0.561000	0.74099	CCG		0.662	CPNE7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269929.2			28	32	1	0	2.12542e-12	1	2.74844e-12	28	32				
TRIM9	114088	broad.mit.edu	37	14	51489654	51489654	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr14:51489654C>T	ENST00000298355.3	-	3	2061	c.940G>A	c.(940-942)Gcc>Acc	p.A314T	TRIM9_ENST00000338969.5_Missense_Mutation_p.A314T|TRIM9_ENST00000360392.4_Missense_Mutation_p.A314T	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	314				A -> V (in Ref. 2; BAB70913). {ECO:0000305}.	negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					ACCAGACAGGCTTCAAACTCC	0.547																																						ENST00000298355.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(940-942)Gcc>Acc		tripartite motif containing 9							133.0	130.0	131.0					14																	51489654		2203	4300	6503	SO:0001583	missense	114088				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:51489654C>T	AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16288	protein-coding gene	gene with protein product		606555	"""tripartite motif-containing 9"""			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.940G>A	14.37:g.51489654C>T	ENSP00000298355:p.Ala314Thr					TRIM9_ENST00000338969.5_Missense_Mutation_p.A314T|TRIM9_ENST00000360392.4_Missense_Mutation_p.A314T	p.A314T	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN			3	2061	-	all_epithelial(31;0.00418)|Breast(41;0.148)		314	A -> V (in Ref. 2; BAB70913).				D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Missense_Mutation	SNP	ENST00000298355.3	37	c.940G>A	CCDS9703.1	.	.	.	.	.	.	.	.	.	.	C	34	5.323387	0.95708	.	.	ENSG00000100505	ENST00000298355;ENST00000338969;ENST00000360392	T;T;T	0.70869	-0.39;-0.52;0.56	5.58	5.58	0.84498	B-box, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.82208	0.4987	M	0.64997	1.995	0.58432	D	0.999998	D;D;P	0.89917	1.0;0.984;0.877	D;D;P	0.91635	0.999;0.982;0.546	T	0.78499	-0.2180	10	0.27785	T	0.31	.	18.5617	0.91102	0.0:1.0:0.0:0.0	.	314;314;314	Q9C026-5;Q9C026-4;Q9C026	.;.;TRIM9_HUMAN	T	314	ENSP00000298355:A314T;ENSP00000342970:A314T;ENSP00000353561:A314T	ENSP00000298355:A314T	A	-	1	0	TRIM9	50559404	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.478000	0.81082	2.636000	0.89361	0.655000	0.94253	GCC		0.547	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276874.1	NM_015163		33	80	0	0	0	1	0	33	80				
KLK5	25818	broad.mit.edu	37	19	51451950	51451950	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:51451950C>G	ENST00000336334.3	-	5	1024	c.672G>C	c.(670-672)caG>caC	p.Q224H	KLK5_ENST00000593428.1_Missense_Mutation_p.Q224H|CTB-147C22.8_ENST00000594939.1_RNA|CTB-147C22.8_ENST00000601506.1_RNA|KLK5_ENST00000391809.2_Missense_Mutation_p.Q224H	NM_012427.4	NP_036559	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	224	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis development (GO:0008544)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	epidermal lamellar body (GO:0097209)|extracellular space (GO:0005615)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		TGTCATCTATCTGTCTCGGGT	0.502																																						ENST00000336334.3																			0				NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15						c.(670-672)caG>caC		kallikrein-related peptidase 5							170.0	134.0	146.0					19																	51451950		2203	4300	6503	SO:0001583	missense	25818				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr19:51451950C>G	AF135028	CCDS12810.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167754		"""Kallikreins"""	6366	protein-coding gene	gene with protein product		605643	"""kallikrein 5"""			10514489, 10608802, 1680072, 4, 16800723, 17012259	Standard	NM_012427		Approved	SCTE, KLK-L2	uc002puf.3	Q9Y337		ENST00000336334.3:c.672G>C	19.37:g.51451950C>G	ENSP00000337733:p.Gln224His					KLK5_ENST00000391809.2_Missense_Mutation_p.Q224H|KLK5_ENST00000593428.1_Missense_Mutation_p.Q224H	p.Q224H	NM_012427.4	NP_036559.1	Q9Y337	KLK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)	5	1024	-		all_neural(266;0.026)	224			Peptidase S1.		Q53ZR3|Q9HBG8	Missense_Mutation	SNP	ENST00000336334.3	37	c.672G>C	CCDS12810.1	.	.	.	.	.	.	.	.	.	.	c	15.40	2.821092	0.50633	.	.	ENSG00000167754	ENST00000336334;ENST00000391809	D;D	0.88818	-2.43;-2.43	4.32	2.18	0.27775	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.614195	0.12418	U	0.470674	D	0.86723	0.6001	L	0.28504	0.86	0.35771	D	0.820921	D	0.60160	0.987	P	0.57911	0.829	D	0.84155	0.0425	10	0.62326	D	0.03	.	3.7826	0.08686	0.1914:0.6044:0.0:0.2042	.	224	Q9Y337	KLK5_HUMAN	H	224	ENSP00000337733:Q224H;ENSP00000375685:Q224H	ENSP00000337733:Q224H	Q	-	3	2	KLK5	56143762	0.389000	0.25205	0.443000	0.26883	0.078000	0.17371	0.781000	0.26774	0.454000	0.26884	0.563000	0.77884	CAG		0.502	KLK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465057.1	NM_012427		18	48	0	0	0	1	0	18	48				
CHD6	84181	broad.mit.edu	37	20	40076563	40076563	+	Silent	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr20:40076563C>G	ENST00000373233.3	-	24	3909	c.3732G>C	c.(3730-3732)ctG>ctC	p.L1244L	CHD6_ENST00000309279.7_Silent_p.L727L	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1244					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CTGCTTCTCCCAGTATTTCAG	0.378																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(3730-3732)ctG>ctC		chromodomain helicase DNA binding protein 6							142.0	136.0	138.0					20																	40076563		2203	4300	6503	SO:0001819	synonymous_variant	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40076563C>G	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.3732G>C	20.37:g.40076563C>G						CHD6_ENST00000309279.7_Silent_p.L727L	p.L1244L	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			24	3909	-		Myeloproliferative disorder(115;0.00425)	1244					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	ENST00000373233.3	37	c.3732G>C	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	C	9.379	1.072461	0.20147	.	.	ENSG00000124177	ENST00000440697	.	.	.	5.83	2.83	0.33086	.	.	.	.	.	T	0.55705	0.1937	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49409	-0.8943	4	.	.	.	-8.2652	7.2988	0.26408	0.0:0.6654:0.1239:0.2108	.	.	.	.	S	430	.	.	W	-	2	0	CHD6	39509977	0.580000	0.26733	1.000000	0.80357	0.996000	0.88848	-0.155000	0.10115	0.793000	0.33875	0.655000	0.94253	TGG		0.378	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			26	131	0	0	0	1	0	26	131				
PPFIA2	8499	broad.mit.edu	37	12	81741330	81741330	+	Silent	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:81741330C>T	ENST00000549396.1	-	18	2374	c.2214G>A	c.(2212-2214)cgG>cgA	p.R738R	PPFIA2_ENST00000550359.2_Silent_p.R585R|PPFIA2_ENST00000549325.1_Silent_p.R720R|PPFIA2_ENST00000333447.7_Silent_p.R720R|PPFIA2_ENST00000550584.2_Silent_p.R738R|PPFIA2_ENST00000443686.3_Silent_p.R639R|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541017.1_Intron|PPFIA2_ENST00000548586.1_Silent_p.R738R|PPFIA2_ENST00000407050.4_Silent_p.R664R|PPFIA2_ENST00000552948.1_Silent_p.R738R|PPFIA2_ENST00000541570.2_Silent_p.R305R	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	738					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TGACTCCCATCCGATCCATTT	0.498																																						ENST00000550584.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						c.(2212-2214)cgG>cgA		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2							133.0	133.0	133.0					12																	81741330		1974	4162	6136	SO:0001819	synonymous_variant	8499							g.chr12:81741330C>T	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.2214G>A	12.37:g.81741330C>T						PPFIA2_ENST00000552948.1_Silent_p.R738R|PPFIA2_ENST00000550359.2_Silent_p.R585R|PPFIA2_ENST00000333447.7_Silent_p.R720R|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541017.1_Intron|PPFIA2_ENST00000443686.3_Silent_p.R639R|PPFIA2_ENST00000549396.1_Silent_p.R738R|PPFIA2_ENST00000541570.2_Silent_p.R305R|PPFIA2_ENST00000407050.4_Silent_p.R664R|PPFIA2_ENST00000548586.1_Silent_p.R738R|PPFIA2_ENST00000549325.1_Silent_p.R720R	p.R738R	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN			17	2509	-			664					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Silent	SNP	ENST00000549396.1	37	c.2214G>A	CCDS55857.1																																																																																				0.498	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			41	171	0	0	0	1	0	41	171				
ZNF169	169841	broad.mit.edu	37	9	97063150	97063150	+	Missense_Mutation	SNP	G	G	T	rs539728098		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:97063150G>T	ENST00000395395.2	+	5	1400	c.1310G>T	c.(1309-1311)cGg>cTg	p.R437L	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	437					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				CAGTGTGGGCGGGGTTTTAGC	0.582																																						ENST00000395395.2																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1309-1311)cGg>cTg		zinc finger protein 169							62.0	60.0	61.0					9																	97063150		2203	4300	6503	SO:0001583	missense	169841					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:97063150G>T	U28322	CCDS6709.2	9q22.32	2014-07-30			ENSG00000175787	ENSG00000175787		"""Zinc fingers, C2H2-type"", ""-"""	12957	protein-coding gene	gene with protein product		603404				9186526, 9071574	Standard	NM_001301275		Approved	MGC51961	uc004aum.1	Q14929	OTTHUMG00000020264	ENST00000395395.2:c.1310G>T	9.37:g.97063150G>T	ENSP00000378792:p.Arg437Leu					ZNF169_ENST00000340911.4_3'UTR	p.R437L	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN			5	1400	+		Acute lymphoblastic leukemia(62;0.136)	437					A2AGP5|A8K127|Q6PI28	Missense_Mutation	SNP	ENST00000395395.2	37	c.1310G>T	CCDS6709.2	.	.	.	.	.	.	.	.	.	.	G	11.39	1.624068	0.28889	.	.	ENSG00000175787	ENST00000395395;ENST00000340911	T	0.19105	2.17	2.83	1.93	0.25924	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33089	0.0851	L	0.45581	1.43	0.09310	N	0.999993	D	0.71674	0.998	D	0.72338	0.977	T	0.07309	-1.0779	9	0.87932	D	0	.	5.1784	0.15146	0.2715:0.0:0.7285:0.0	.	437	Q14929	ZN169_HUMAN	L	437;246	ENSP00000378792:R437L	ENSP00000340711:R246L	R	+	2	0	ZNF169	96102971	0.028000	0.19301	0.018000	0.16275	0.418000	0.31294	2.305000	0.43664	0.781000	0.33589	-0.183000	0.12914	CGG		0.582	ZNF169-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253714.1	NM_194320		28	58	1	0	1.68575e-08	1	2.01456e-08	28	58				
RAF1	5894	broad.mit.edu	37	3	12660013	12660013	+	Splice_Site	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:12660013C>T	ENST00000251849.4	-	2	647		c.e2+1		RAF1_ENST00000542177.1_Splice_Site|RAF1_ENST00000442415.2_Splice_Site	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	Raf-1 proto-oncogene, serine/threonine kinase						activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|death-inducing signaling complex assembly (GO:0071550)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intermediate filament cytoskeleton organization (GO:0045104)|ion transmembrane transport (GO:0034220)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein complex assembly (GO:0031333)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of Rho protein signal transduction (GO:0035023)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)	TGTTCACATACCACTGTTCTT	0.408			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome																													ENST00000251849.4				Dom	yes		3	3p25	5894	T	v-raf-1 murine leukemia viral oncogene homolog 1			M	SRGAP3		pilocytic astrocytoma	ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	0				biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32						c.e2+1		v-raf-1 murine leukemia viral oncogene homolog 1	Sorafenib(DB00398)						104.0	97.0	100.0					3																	12660013		2203	4300	6503	SO:0001630	splice_region_variant	5894	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr3:12660013C>T	X03484	CCDS2612.1	3p25	2014-09-17	2014-06-26		ENSG00000132155	ENSG00000132155			9829	protein-coding gene	gene with protein product	"""C-Raf proto-oncogene, serine/threonine kinase"""	164760	"""v-raf-1 murine leukemia viral oncogene homolog 1"""			1611909	Standard	NM_002880		Approved	Raf-1, c-Raf, CRAF	uc003bxf.4	P04049	OTTHUMG00000129789	ENST00000251849.4:c.207+1G>A	3.37:g.12660013C>T						RAF1_ENST00000542177.1_Splice_Site|RAF1_ENST00000442415.2_Splice_Site		NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN			2	647	-								B0LPH8|B2R5N3|Q15278|Q9UC20	Splice_Site	SNP	ENST00000251849.4	37		CCDS2612.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.884108	0.91814	.	.	ENSG00000132155	ENST00000251849;ENST00000442415;ENST00000542177	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RAF1	12635013	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.405000	0.80007	2.941000	0.99782	0.655000	0.94253	.		0.408	RAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252015.2	NM_002880	Intron	28	55	0	0	0	1	0	28	55				
PCSK5	5125	broad.mit.edu	37	9	78953340	78953340	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:78953340A>C	ENST00000545128.1	+	34	5400	c.4862A>C	c.(4861-4863)cAt>cCt	p.H1621P		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	1621	CRM (Cys-rich motif).				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GAGAGATGCCATCCGACTTGT	0.448																																						ENST00000545128.1																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(4861-4863)cAt>cCt		proprotein convertase subtilisin/kexin type 5							56.0	48.0	50.0					9																	78953340		876	1991	2867	SO:0001583	missense	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78953340A>C		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.4862A>C	9.37:g.78953340A>C	ENSP00000446280:p.His1621Pro						p.H1621P	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN			34	5400	+			786					F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.4862A>C	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	A	16.67	3.186560	0.57909	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000424854	T;T	0.61742	0.08;0.08	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.70237	0.3201	M	0.67569	2.06	0.58432	D	0.999997	.	.	.	.	.	.	T	0.71094	-0.4692	8	0.49607	T	0.09	-21.0341	15.8762	0.79166	1.0:0.0:0.0:0.0	.	.	.	.	P	1621;1351;1321	ENSP00000446280:H1621P;ENSP00000411654:H1321P	ENSP00000365945:H1351P	H	+	2	0	PCSK5	78143160	1.000000	0.71417	0.978000	0.43139	0.381000	0.30169	6.227000	0.72282	2.231000	0.72958	0.460000	0.39030	CAT		0.448	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				10	42	0	0	0	1	0	10	42				
PPFIA2	8499	broad.mit.edu	37	12	82147851	82147851	+	Silent	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:82147851C>G	ENST00000549396.1	-	3	310	c.150G>C	c.(148-150)cgG>cgC	p.R50R	PPFIA2_ENST00000549325.1_Silent_p.R50R|PPFIA2_ENST00000333447.7_Silent_p.R50R|PPFIA2_ENST00000550584.2_Silent_p.R50R|PPFIA2_ENST00000548586.1_Silent_p.R50R|PPFIA2_ENST00000552948.1_Silent_p.R50R	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	50					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CCTGGGTCTCCCGAAGGGTGT	0.527																																						ENST00000550584.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						c.(148-150)cgG>cgC		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2							62.0	65.0	64.0					12																	82147851		1939	4145	6084	SO:0001819	synonymous_variant	8499							g.chr12:82147851C>G	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.150G>C	12.37:g.82147851C>G						PPFIA2_ENST00000552948.1_Silent_p.R50R|PPFIA2_ENST00000333447.7_Silent_p.R50R|PPFIA2_ENST00000549396.1_Silent_p.R50R|PPFIA2_ENST00000548586.1_Silent_p.R50R|PPFIA2_ENST00000549325.1_Silent_p.R50R	p.R50R	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN			2	445	-			309					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Silent	SNP	ENST00000549396.1	37	c.150G>C	CCDS55857.1																																																																																				0.527	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			8	31	0	0	0	1	0	8	31				
NBPF14	25832	broad.mit.edu	37	1	145293581	145293581	+	Splice_Site	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:145293581G>T	ENST00000468030.1	+	6	1335		c.e6+1		NBPF10_ENST00000342960.5_Splice_Site|NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Splice_Site																							AAGAAATACAGTAAGATCTAT	0.428																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.e1+1		neuroblastoma breakpoint family, member 10																																				SO:0001630	splice_region_variant	100132406							g.chr1:145293581G>T																												ENST00000468030.1:c.714+1G>T	1.37:g.145293581G>T						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Splice_Site|RP11-458D21.5_ENST00000468030.1_Splice_Site		NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	1	210	+	all_hematologic(923;0.032)								Splice_Site	SNP	ENST00000468030.1	37			.	.	.	.	.	.	.	.	.	.	.	2.564	-0.301193	0.05495	.	.	ENSG00000163386	ENST00000369339;ENST00000448873;ENST00000342960	.	.	.	1.07	1.07	0.20283	.	.	.	.	.	.	.	.	.	.	.	0.26932	N	0.966435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.6399	0.17559	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NBPF10	144004938	0.015000	0.18098	0.039000	0.18376	0.022000	0.10575	0.109000	0.15417	0.905000	0.36596	0.289000	0.19496	.		0.428	RP11-458D21.5-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000038553.9		Intron	31	693	1	0	6.70999e-13	1	8.73543e-13	31	693				
NEFH	4744	broad.mit.edu	37	22	29885177	29885177	+	Silent	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr22:29885177C>A	ENST00000310624.6	+	4	1581	c.1548C>A	c.(1546-1548)gcC>gcA	p.A516A		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	516	Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AGAAGGAAGCCAAGTCACCAG	0.557																																						ENST00000310624.6																			0				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						c.(1546-1548)gcC>gcA		neurofilament, heavy polypeptide							48.0	54.0	52.0					22																	29885177		2203	4300	6503	SO:0001819	synonymous_variant	4744				cell death|nervous system development	neurofilament		g.chr22:29885177C>A		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1548C>A	22.37:g.29885177C>A							p.A516A	NM_021076.3	NP_066554.2	P12036	NFH_HUMAN			4	1581	+			516			Tail.		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Silent	SNP	ENST00000310624.6	37	c.1548C>A	CCDS13858.1																																																																																				0.557	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		13	48	1	0	7.93312e-07	1	9.07314e-07	13	48				
NFASC	23114	broad.mit.edu	37	1	204966434	204966434	+	Silent	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:204966434C>A	ENST00000401399.1	+	24	3118	c.2919C>A	c.(2917-2919)acC>acA	p.T973T	NFASC_ENST00000539706.1_Intron|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000367172.4_Silent_p.T1080T|NFASC_ENST00000367171.4_Silent_p.T1065T|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000338586.6_Intron|NFASC_ENST00000339876.6_Silent_p.T973T|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000338515.6_Silent_p.T1080T|NFASC_ENST00000495396.1_Intron|NFASC_ENST00000367170.4_Intron|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000404907.1_Intron			O94856	NFASC_HUMAN	neurofascin	1080	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ccatcgccaccaccaccaccg	0.612																																						ENST00000367172.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81						c.(3238-3240)acC>acA		neurofascin							240.0	290.0	275.0					1																	204966434		1565	3571	5136	SO:0001819	synonymous_variant	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204966434C>A	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.2919C>A	1.37:g.204966434C>A						NFASC_ENST00000404907.1_Intron|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000367170.4_Intron|NFASC_ENST00000401399.1_Silent_p.T973T|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000495396.1_Intron|NFASC_ENST00000338586.6_Intron|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000339876.6_Silent_p.T973T|NFASC_ENST00000367171.4_Silent_p.T1065T|NFASC_ENST00000338515.6_Silent_p.T1080T|NFASC_ENST00000360049.4_Intron	p.T1080T			O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		27	3568	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		1080			Thr-rich.		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Silent	SNP	ENST00000401399.1	37	c.3240C>A	CCDS53460.1																																																																																				0.612	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		10	17	1	0	6.40141e-05	1	6.98007e-05	10	17				
IL1RAPL1	11141	broad.mit.edu	37	X	29973894	29973894	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chrX:29973894C>T	ENST00000378993.1	+	11	2721	c.2048C>T	c.(2047-2049)cCg>cTg	p.P683L	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.P683L	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	683					calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GCCATCCTGCCGCTGTTGCCA	0.537																																						ENST00000378993.1																			0				biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(2047-2049)cCg>cTg		interleukin 1 receptor accessory protein-like 1							37.0	34.0	35.0					X																	29973894		2202	4300	6502	SO:0001583	missense	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29973894C>T	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.2048C>T	X.37:g.29973894C>T	ENSP00000368278:p.Pro683Leu					IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.P683L	p.P683L	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN			11	2721	+			683					A0AVG4|Q9UJ53	Missense_Mutation	SNP	ENST00000378993.1	37	c.2048C>T	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.681389	0.68042	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.13089	2.62;2.62	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.38825	0.1055	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.09509	-1.0671	9	.	.	.	.	18.2846	0.90110	0.0:1.0:0.0:0.0	.	683	Q9NZN1	IRPL1_HUMAN	L	683	ENSP00000368278:P683L;ENSP00000305200:P683L	.	P	+	2	0	IL1RAPL1	29883815	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.258000	0.74832	0.544000	0.68410	CCG		0.537	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		11	12	0	0	0	1	0	11	12				
FBN2	2201	broad.mit.edu	37	5	127623023	127623023	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:127623023C>A	ENST00000508053.1	-	60	7831	c.6857G>T	c.(6856-6858)aGg>aTg	p.R2286M	FBN2_ENST00000262464.4_Missense_Mutation_p.R2286M			P35556	FBN2_HUMAN	fibrillin 2	2286	EGF-like 38; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTGATCTTCCCTGAGGGCATA	0.458																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(6856-6858)aGg>aTg		fibrillin 2							166.0	154.0	158.0					5																	127623023		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127623023C>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.6857G>T	5.37:g.127623023C>A	ENSP00000424571:p.Arg2286Met					FBN2_ENST00000262464.4_Missense_Mutation_p.R2286M	p.R2286M			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	60	7831	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	2286			EGF-like 38; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.6857G>T	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	32	5.177243	0.94846	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.92199	-2.99;-2.99	5.34	5.34	0.76211	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000001	D	0.93103	0.7804	N	0.20845	0.615	0.54753	D	0.999986	D	0.89917	1.0	D	0.87578	0.998	D	0.93725	0.7036	10	0.62326	D	0.03	.	19.5946	0.95530	0.0:1.0:0.0:0.0	.	2286	P35556	FBN2_HUMAN	M	2286	ENSP00000262464:R2286M;ENSP00000424571:R2286M	ENSP00000262464:R2286M	R	-	2	0	FBN2	127650922	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.600000	0.82769	2.937000	0.99478	0.650000	0.86243	AGG		0.458	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		27	123	1	0	1.26454e-06	1	1.44412e-06	27	123				
TBC1D9B	23061	broad.mit.edu	37	5	179291042	179291042	+	Silent	SNP	G	G	T	rs189711355		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:179291042G>T	ENST00000356834.3	-	22	3196	c.3159C>A	c.(3157-3159)acC>acA	p.T1053T	TBC1D9B_ENST00000519746.1_Silent_p.T212T|TBC1D9B_ENST00000444477.2_Silent_p.T194T|TBC1D9B_ENST00000355235.3_Silent_p.T1036T|TBC1D9B_ENST00000518085.1_5'UTR	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	1053						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCTGGCCACGGTGGCGATGG	0.587																																						ENST00000356834.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28						c.(3157-3159)acC>acA		TBC1 domain family, member 9B (with GRAM domain)							48.0	39.0	42.0					5																	179291042		2203	4300	6503	SO:0001819	synonymous_variant	23061					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity	g.chr5:179291042G>T	AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"""EF-hand domain containing"""	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.3159C>A	5.37:g.179291042G>T						TBC1D9B_ENST00000444477.2_Silent_p.T194T|TBC1D9B_ENST00000355235.3_Silent_p.T1036T|TBC1D9B_ENST00000519746.1_Silent_p.T212T|TBC1D9B_ENST00000518085.1_5'UTR	p.T1053T	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		22	3196	-	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	1053					D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Silent	SNP	ENST00000356834.3	37	c.3159C>A	CCDS43408.1	.	.	.	.	.	.	.	.	.	.	G	7.168	0.587044	0.13812	.	.	ENSG00000197226	ENST00000524222	.	.	.	5.36	-10.7	0.00240	.	.	.	.	.	T	0.30230	0.0758	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40496	-0.9560	4	.	.	.	-14.5489	0.1826	0.00125	0.2798:0.1787:0.2471:0.2943	.	.	.	.	Q	96	.	.	P	-	2	0	TBC1D9B	179223648	0.000000	0.05858	0.234000	0.24042	0.940000	0.58332	-7.811000	0.00029	-2.541000	0.00485	-1.415000	0.01116	CCG		0.587	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	NM_015043		11	58	1	0	3.86212e-05	1	4.22317e-05	11	58				
NAV3	89795	broad.mit.edu	37	12	78573385	78573385	+	Silent	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:78573385T>C	ENST00000397909.2	+	29	5613	c.5440T>C	c.(5440-5442)Tta>Cta	p.L1814L	NAV3_ENST00000228327.6_Silent_p.L1792L|NAV3_ENST00000266692.7_Silent_p.L1615L|NAV3_ENST00000536525.2_Silent_p.L1792L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1814						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GGAATTAAAATTAACGGATAT	0.468										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(5440-5442)Tta>Cta		neuron navigator 3							85.0	87.0	87.0					12																	78573385		1846	4098	5944	SO:0001819	synonymous_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78573385T>C	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.5440T>C	12.37:g.78573385T>C		HNSCC(70;0.22)				NAV3_ENST00000536525.2_Silent_p.L1792L|NAV3_ENST00000266692.7_Silent_p.L1615L|NAV3_ENST00000228327.6_Silent_p.L1792L	p.L1814L			Q8IVL0	NAV3_HUMAN			29	5613	+			1814					Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37	c.5440T>C		.	.	.	.	.	.	.	.	.	.	T	10.12	1.263766	0.23136	.	.	ENSG00000067798	ENST00000552895	.	.	.	5.74	2.14	0.27477	.	.	.	.	.	T	0.55816	0.1944	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47674	-0.9099	4	.	.	.	-10.3467	7.9922	0.30248	0.0:0.3199:0.0:0.6801	.	.	.	.	T	686	.	.	I	+	2	0	NAV3	77097516	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.742000	0.38248	0.441000	0.26529	0.533000	0.62120	ATT		0.468	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		26	91	0	0	0	1	0	26	91				
STRADB	55437	broad.mit.edu	37	2	202343226	202343226	+	Silent	SNP	A	A	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:202343226A>G	ENST00000194530.3	+	10	1337	c.972A>G	c.(970-972)acA>acG	p.T324T	STRADB_ENST00000392249.2_Silent_p.T324T	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	324	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cell morphogenesis (GO:0000902)|insulin receptor signaling pathway (GO:0008286)|JNK cascade (GO:0007254)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						GAACTCACACAGTAAATAGTG	0.428																																						ENST00000194530.3																			0				breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						c.(970-972)acA>acG		STE20-related kinase adaptor beta							68.0	64.0	66.0					2																	202343226		2203	4300	6503	SO:0001819	synonymous_variant	55437				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity	g.chr2:202343226A>G	AB038950	CCDS2348.1, CCDS56161.1	2q33.1	2010-09-30	2008-09-15	2008-09-15	ENSG00000082146	ENSG00000082146			13205	protein-coding gene	gene with protein product		607333	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 2"""	ALS2CR2		11161814, 14511394	Standard	NM_018571		Approved	CALS-21, PAPK, ILPIPA, ILPIP	uc002uyd.4	Q9C0K7	OTTHUMG00000132831	ENST00000194530.3:c.972A>G	2.37:g.202343226A>G						STRADB_ENST00000392249.2_Silent_p.T324T	p.T324T	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN			10	1337	+			324			Protein kinase.		Q5BKY7|Q9P1L0	Silent	SNP	ENST00000194530.3	37	c.972A>G	CCDS2348.1																																																																																				0.428	STRADB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256297.1	NM_018571		22	77	0	0	0	1	0	22	77				
GABRB1	2560	broad.mit.edu	37	4	47405444	47405444	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:47405444G>A	ENST00000295454.3	+	6	946	c.654G>A	c.(652-654)atG>atA	p.M218I	GABRB1_ENST00000538619.1_Missense_Mutation_p.M148I	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	218					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					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)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|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)	ACTACAAGATGGTGTCTAAGA	0.418																																						ENST00000295454.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(652-654)atG>atA		gamma-aminobutyric acid (GABA) A receptor, beta 1	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						125.0	119.0	121.0					4																	47405444		2203	4300	6503	SO:0001583	missense	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47405444G>A		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.654G>A	4.37:g.47405444G>A	ENSP00000295454:p.Met218Ile					GABRB1_ENST00000538619.1_Missense_Mutation_p.M148I	p.M218I	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN			6	946	+			218					B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	c.654G>A	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.744616	0.30865	.	.	ENSG00000163288	ENST00000295454;ENST00000538619	T;T	0.78707	-1.2;-1.2	5.43	5.43	0.79202	Neurotransmitter-gated ion-channel ligand-binding (3);	0.116043	0.56097	D	0.000023	T	0.56688	0.2002	N	0.01146	-0.985	0.41501	D	0.988286	B;B	0.20780	0.002;0.048	B;B	0.22386	0.007;0.039	T	0.57177	-0.7856	10	0.45353	T	0.12	-28.676	19.4279	0.94751	0.0:0.0:1.0:0.0	.	148;218	F5GXV5;P18505	.;GBRB1_HUMAN	I	218;148	ENSP00000295454:M218I;ENSP00000440330:M148I	ENSP00000295454:M218I	M	+	3	0	GABRB1	47100201	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.484000	0.53201	2.824000	0.97209	0.655000	0.94253	ATG		0.418	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			23	83	0	0	0	1	0	23	83				
ARHGAP11A	9824	broad.mit.edu	37	15	32928536	32928536	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr15:32928536G>T	ENST00000361627.3	+	12	2284	c.1562G>T	c.(1561-1563)tGg>tTg	p.W521L	ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.W332L|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.W332L	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	521					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		CGGATGTCTTGGACAGGACCT	0.383																																					Colon(45;757 1134 30003 36652)	ENST00000361627.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(1561-1563)tGg>tTg		Rho GTPase activating protein 11A							64.0	68.0	67.0					15																	32928536		2201	4300	6501	SO:0001583	missense	9824				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr15:32928536G>T	D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"""Rho GTPase activating proteins"""	15783	protein-coding gene	gene with protein product	"""GAP (1-12)"""	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.1562G>T	15.37:g.32928536G>T	ENSP00000355090:p.Trp521Leu					ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.W332L|ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.W332L	p.W521L	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	12	2284	+		all_lung(180;1.3e-11)	521					B4DZN9|Q6PI96|Q9Y3S6	Missense_Mutation	SNP	ENST00000361627.3	37	c.1562G>T	CCDS10028.1	.	.	.	.	.	.	.	.	.	.	.	25.8	4.671993	0.88348	.	.	ENSG00000198826	ENST00000361627;ENST00000543522	T	0.25414	1.8	5.86	5.86	0.93980	.	0.000000	0.53938	D	0.000042	T	0.54935	0.1889	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.55412	-0.8145	10	0.87932	D	0	.	20.1818	0.98206	0.0:0.0:1.0:0.0	.	521	Q6P4F7	RHGBA_HUMAN	L	521;332	ENSP00000355090:W521L	ENSP00000355090:W521L	W	+	2	0	ARHGAP11A	30715828	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.876000	0.87215	2.759000	0.94783	0.650000	0.86243	TGG		0.383	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1	NM_014783		26	100	1	0	4.26978e-12	1	5.46645e-12	26	100				
C12orf40	283461	broad.mit.edu	37	12	40114611	40114611	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:40114611T>A	ENST00000324616.5	+	13	1671	c.1517T>A	c.(1516-1518)aTa>aAa	p.I506K		NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	506										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						GAAGATCAAATATCACAGCAA	0.289																																						ENST00000324616.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						c.(1516-1518)aTa>aAa		chromosome 12 open reading frame 40							44.0	45.0	44.0					12																	40114611		1807	4072	5879	SO:0001583	missense	283461							g.chr12:40114611T>A	AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.1517T>A	12.37:g.40114611T>A	ENSP00000317671:p.Ile506Lys						p.I506K	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN			13	1671	+			506					B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	ENST00000324616.5	37	c.1517T>A	CCDS41770.1	.	.	.	.	.	.	.	.	.	.	T	7.242	0.601527	0.13939	.	.	ENSG00000180116	ENST00000324616	T	0.50813	0.73	4.74	0.823	0.18812	.	1.730810	0.02949	N	0.141402	T	0.35219	0.0924	L	0.27053	0.805	0.09310	N	1	B	0.21905	0.062	B	0.18561	0.022	T	0.27806	-1.0063	10	0.66056	D	0.02	.	4.0712	0.09882	0.3154:0.091:0.0:0.5935	.	506	Q86WS4	CL040_HUMAN	K	506	ENSP00000317671:I506K	ENSP00000317671:I506K	I	+	2	0	C12orf40	38400878	0.000000	0.05858	0.000000	0.03702	0.084000	0.17831	0.287000	0.18920	0.038000	0.15604	0.477000	0.44152	ATA		0.289	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599		14	76	0	0	0	1	0	14	76				
SALL1	6299	broad.mit.edu	37	16	51172863	51172863	+	Missense_Mutation	SNP	G	G	C	rs143637930		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr16:51172863G>C	ENST00000251020.4	-	2	3303	c.3270C>G	c.(3268-3270)aaC>aaG	p.N1090K	SALL1_ENST00000440970.1_Missense_Mutation_p.N993K|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1090					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GCACGAAGCCGTTGACCTCTG	0.567																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			0				NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(2977-2979)aaC>aaG		spalt-like transcription factor 1							114.0	105.0	108.0					16																	51172863		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51172863G>C	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.3270C>G	16.37:g.51172863G>C	ENSP00000251020:p.Asn1090Lys					SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.N1090K|SALL1_ENST00000566102.1_Intron	p.N993K	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	3410	-		all_cancers(37;0.0322)	1090					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.2979C>G	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.251940	0.59212	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.07216	3.22;3.21	5.42	2.08	0.27032	.	0.000000	0.85682	D	0.000000	T	0.10852	0.0265	L	0.43152	1.355	0.80722	D	1	D	0.61697	0.99	P	0.54346	0.749	T	0.32322	-0.9911	10	0.13853	T	0.58	.	7.5769	0.27942	0.446:0.0:0.554:0.0	.	1090	Q9NSC2	SALL1_HUMAN	K	1090;993;1054	ENSP00000251020:N1090K;ENSP00000407914:N993K	ENSP00000251020:N1090K	N	-	3	2	SALL1	49730364	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.142000	0.31540	0.667000	0.31107	-0.253000	0.11424	AAC		0.567	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		37	46	0	0	0	1	0	37	46				
SLC52A1	55065	broad.mit.edu	37	17	4937013	4937013	+	Silent	SNP	C	C	A	rs200049864		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:4937013C>A	ENST00000424747.1	-	3	1483	c.771G>T	c.(769-771)ccG>ccT	p.P257P	SLC52A1_ENST00000254853.5_Silent_p.P257P|SLC52A1_ENST00000512825.2_Silent_p.P257P	NM_001104577.1	NP_001098047.1	Q9NWF4	S52A1_HUMAN	solute carrier family 52 (riboflavin transporter), member 1	257					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)										CTGCCTGGCTCGGTGGCTCCT	0.617																																						ENST00000512825.2																			0											c.(769-771)ccG>ccT		solute carrier family 52 (riboflavin transporter), member 1							66.0	52.0	57.0					17																	4937013		2203	4300	6503	SO:0001819	synonymous_variant	55065					integral to plasma membrane	receptor activity|riboflavin transporter activity	g.chr17:4937013C>A	AY070775	CCDS11066.1	17p13.3	2013-07-17	2013-07-17	2012-02-29	ENSG00000132517	ENSG00000132517		"""Solute carriers"""	30225	protein-coding gene	gene with protein product	"""riboflavin transporter 1"""	607883	"""G protein-coupled receptor 172B"""	GPR172B		12740431, 18632736	Standard	NM_001104577		Approved	FLJ10060, GPCR42, PAR2, hRFT1, RFVT1	uc002gao.4	Q9NWF4	OTTHUMG00000099448	ENST00000424747.1:c.771G>T	17.37:g.4937013C>A						SLC52A1_ENST00000424747.1_Silent_p.P257P|SLC52A1_ENST00000254853.5_Silent_p.P257P	p.P257P			Q9NWF4	RFT_HUMAN			3	2182	-			257					B5MEV1|B5MEV2|Q6P9E0|Q86UT0	Silent	SNP	ENST00000424747.1	37	c.771G>T	CCDS11066.1																																																																																				0.617	SLC52A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216913.1	NM_017986		19	63	1	0	3.99206e-14	1	5.31357e-14	19	63				
CACNA1E	777	broad.mit.edu	37	1	181702879	181702879	+	Silent	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:181702879G>T	ENST00000367573.2	+	21	3255	c.3255G>T	c.(3253-3255)gtG>gtT	p.V1085V	CACNA1E_ENST00000358338.5_Silent_p.V1017V|CACNA1E_ENST00000360108.3_Silent_p.V1066V|CACNA1E_ENST00000367567.4_Silent_p.V692V|CACNA1E_ENST00000367570.1_Silent_p.V1085V|CACNA1E_ENST00000526775.1_Silent_p.V1066V|CACNA1E_ENST00000357570.5_Silent_p.V1036V	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1085					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACTCAACCGTGGTGCACAGTG	0.617																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(3196-3198)gtG>gtT		calcium channel, voltage-dependent, R type, alpha 1E subunit							33.0	37.0	35.0					1																	181702879		2142	4223	6365	SO:0001819	synonymous_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181702879G>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.3255G>T	1.37:g.181702879G>T						CACNA1E_ENST00000357570.5_Silent_p.V1036V|CACNA1E_ENST00000358338.5_Silent_p.V1017V|CACNA1E_ENST00000367573.2_Silent_p.V1085V|CACNA1E_ENST00000367570.1_Silent_p.V1085V|CACNA1E_ENST00000360108.3_Silent_p.V1066V|CACNA1E_ENST00000367567.4_Silent_p.V692V	p.V1066V	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			20	3363	+			1085					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	c.3198G>T	CCDS55664.1																																																																																				0.617	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		17	21	1	0	4.7546e-09	1	5.75322e-09	17	21				
CCDC38	120935	broad.mit.edu	37	12	96312657	96312657	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:96312657T>A	ENST00000344280.3	-	3	692	c.135A>T	c.(133-135)gaA>gaT	p.E45D	CCDC38_ENST00000549752.1_5'Flank	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	45										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACTTTACCGTTTCCTTTGCTG	0.368																																						ENST00000344280.3																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(133-135)gaA>gaT		coiled-coil domain containing 38							173.0	159.0	163.0					12																	96312657		2203	4300	6503	SO:0001583	missense	120935							g.chr12:96312657T>A	AK097408	CCDS9056.1	12q23.1	2005-11-02				ENSG00000165972			26843	protein-coding gene	gene with protein product							Standard	NM_182496		Approved	FLJ40089	uc001tek.2	Q502W7	OTTHUMG00000170352	ENST00000344280.3:c.135A>T	12.37:g.96312657T>A	ENSP00000345470:p.Glu45Asp						p.E45D	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN			3	692	-			45					Q8N835	Missense_Mutation	SNP	ENST00000344280.3	37	c.135A>T	CCDS9056.1	.	.	.	.	.	.	.	.	.	.	T	14.06	2.423989	0.43020	.	.	ENSG00000165972	ENST00000344280;ENST00000546947	T	0.33216	1.42	4.85	4.85	0.62838	.	0.787952	0.11850	N	0.523366	T	0.19604	0.0471	N	0.14661	0.345	0.80722	D	1	B	0.21606	0.058	B	0.18561	0.022	T	0.05599	-1.0875	10	0.33940	T	0.23	-11.3348	10.9999	0.47600	0.0:0.0:0.0:1.0	.	45	Q502W7	CCD38_HUMAN	D	45;5	ENSP00000345470:E45D	ENSP00000345470:E45D	E	-	3	2	CCDC38	94836788	0.063000	0.20901	0.159000	0.22649	0.002000	0.02628	0.758000	0.26447	2.160000	0.67779	0.459000	0.35465	GAA		0.368	CCDC38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408634.1	NM_182496		23	75	0	0	0	1	0	23	75				
OCRL	4952	broad.mit.edu	37	X	128724193	128724193	+	Silent	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chrX:128724193C>T	ENST00000371113.4	+	24	2817	c.2652C>T	c.(2650-2652)cgC>cgT	p.R884R	OCRL_ENST00000357121.5_Silent_p.R876R	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	884	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				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)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						CAAGTGACCGCCAGCGTGCTA	0.498																																						ENST00000371113.4																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						c.(2650-2652)cgC>cgT		oculocerebrorenal syndrome of Lowe							211.0	202.0	205.0					X																	128724193		2203	4300	6503	SO:0001819	synonymous_variant	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128724193C>T	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.2652C>T	X.37:g.128724193C>T						OCRL_ENST00000357121.5_Silent_p.R876R	p.R884R	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN			24	2817	+			884			Rho-GAP.		A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Silent	SNP	ENST00000371113.4	37	c.2652C>T	CCDS35393.1																																																																																				0.498	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		72	98	0	0	0	1	0	72	98				
IZUMO2	126123	broad.mit.edu	37	19	50657969	50657969	+	Missense_Mutation	SNP	G	G	T	rs200853476	byFrequency	TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:50657969G>T	ENST00000293405.3	-	6	511	c.511C>A	c.(511-513)Cgc>Agc	p.R171S		NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN	IZUMO family member 2	171						integral component of membrane (GO:0016021)		p.R171C(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						AGGGCCACGCGGGGTTGCCGG	0.617																																						ENST00000293405.3																			1	Substitution - Missense(1)	p.R171C(1)	endometrium(1)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						c.(511-513)Cgc>Agc		IZUMO family member 2							95.0	106.0	102.0					19																	50657969		2005	4137	6142	SO:0001583	missense	126123					integral to membrane		g.chr19:50657969G>T	AY358196	CCDS12792.2	19q13.33	2014-02-17	2010-07-29	2010-07-29	ENSG00000161652	ENSG00000161652		"""-"""	28518	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 41"""	C19orf41		19658160, 22957301	Standard	XM_006723007		Approved	MGC33947, SCRL	uc002prp.1	Q6UXV1	OTTHUMG00000074063	ENST00000293405.3:c.511C>A	19.37:g.50657969G>T	ENSP00000293405:p.Arg171Ser						p.R171S	NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN			6	511	-			171					Q5GRG3|Q5GRG4|Q6ZNM5|Q8NHR8	Missense_Mutation	SNP	ENST00000293405.3	37	c.511C>A	CCDS12792.2	.	.	.	.	.	.	.	.	.	.	G	13.30	2.194878	0.38806	.	.	ENSG00000161652	ENST00000293405	T	0.23754	1.89	3.43	2.38	0.29361	.	.	.	.	.	T	0.30916	0.0780	L	0.32530	0.975	0.27182	N	0.960636	D	0.67145	0.996	P	0.59012	0.85	T	0.07462	-1.0771	9	0.72032	D	0.01	.	6.9493	0.24536	0.1291:0.0:0.8709:0.0	.	171	Q6UXV1	IZUM2_HUMAN	S	171	ENSP00000293405:R171S	ENSP00000293405:R171S	R	-	1	0	IZUMO2	55349781	1.000000	0.71417	0.993000	0.49108	0.128000	0.20619	3.511000	0.53400	1.011000	0.39340	0.305000	0.20034	CGC		0.617	IZUMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157232.1	NM_152358		27	89	1	0	3.01185e-09	1	3.65015e-09	27	89				
ZNF610	162963	broad.mit.edu	37	19	52869692	52869692	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:52869692G>C	ENST00000403906.3	+	6	1517	c.1061G>C	c.(1060-1062)aGt>aCt	p.S354T	ZNF610_ENST00000327920.8_Missense_Mutation_p.S354T|ZNF610_ENST00000321287.8_Missense_Mutation_p.S354T|ZNF610_ENST00000601151.1_Missense_Mutation_p.S311T	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	354					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(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		AAGGTCTTTAGTCTGCTTTCA	0.423																																						ENST00000601151.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34						c.(931-933)aGt>aCt		zinc finger protein 610							88.0	90.0	89.0					19																	52869692		2203	4300	6503	SO:0001583	missense	162963				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52869692G>C	AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"""Zinc fingers, C2H2-type"", ""-"""	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.1061G>C	19.37:g.52869692G>C	ENSP00000383922:p.Ser354Thr					ZNF610_ENST00000321287.8_Missense_Mutation_p.S354T|ZNF610_ENST00000403906.3_Missense_Mutation_p.S354T|ZNF610_ENST00000327920.8_Missense_Mutation_p.S354T	p.S311T	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)	5	1384	+			354					A8K4C3|Q86YH8|Q8NDS9	Missense_Mutation	SNP	ENST00000403906.3	37	c.932G>C	CCDS12851.1	.	.	.	.	.	.	.	.	.	.	G	6.619	0.482565	0.12581	.	.	ENSG00000167554	ENST00000403906;ENST00000321287;ENST00000327920	T;T	0.36340	1.26;1.26	1.69	0.409	0.16382	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15565	0.0375	N	0.11560	0.145	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.09377	0.002;0.004	T	0.30238	-0.9985	9	0.15952	T	0.53	.	4.8017	0.13299	0.0:0.4422:0.3353:0.2225	.	311;354	Q8N9Z0-2;Q8N9Z0	.;ZN610_HUMAN	T	354;311;354	ENSP00000383922:S354T;ENSP00000327597:S354T	ENSP00000324441:S311T	S	+	2	0	ZNF610	57561504	0.000000	0.05858	0.027000	0.17364	0.269000	0.26545	-10.914000	0.00005	-0.010000	0.14271	0.313000	0.20887	AGT		0.423	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462880.1	NM_173530		36	95	0	0	0	1	0	36	95				
BRD9	65980	broad.mit.edu	37	5	878528	878528	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:878528C>G	ENST00000467963.1	-	11	1379	c.1213G>C	c.(1213-1215)Gag>Cag	p.E405Q	BRD9_ENST00000494422.1_5'UTR|BRD9_ENST00000483173.1_Missense_Mutation_p.E352Q|BRD9_ENST00000323510.4_Missense_Mutation_p.E309Q|BRD9_ENST00000435709.2_3'UTR|BRD9_ENST00000388890.4_Missense_Mutation_p.E289Q	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	405					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			AGCTCCATCTCGTCCGACTTC	0.567																																						ENST00000323510.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29						c.(925-927)Gag>Cag		bromodomain containing 9							120.0	102.0	108.0					5																	878528		2203	4300	6503	SO:0001583	missense	65980						nucleic acid binding	g.chr5:878528C>G	AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.1213G>C	5.37:g.878528C>G	ENSP00000419765:p.Glu405Gln					BRD9_ENST00000388890.4_Missense_Mutation_p.E289Q|BRD9_ENST00000483173.1_Missense_Mutation_p.E352Q|BRD9_ENST00000435709.2_3'UTR|BRD9_ENST00000494422.1_5'UTR|BRD9_ENST00000467963.1_Missense_Mutation_p.E405Q	p.E309Q			Q9H8M2	BRD9_HUMAN	Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)		8	924	-			405					A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Missense_Mutation	SNP	ENST00000467963.1	37	c.925G>C	CCDS34127.2	.	.	.	.	.	.	.	.	.	.	c	16.30	3.083563	0.55861	.	.	ENSG00000028310	ENST00000323510;ENST00000388890;ENST00000323547;ENST00000483173;ENST00000467963	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	5.42	4.55	0.56014	.	0.046527	0.85682	D	0.000000	T	0.62441	0.2428	L	0.58101	1.795	0.80722	D	1	D;D;D;P;P	0.64830	0.994;0.987;0.983;0.955;0.881	P;P;P;P;P	0.60682	0.878;0.794;0.816;0.69;0.559	T	0.63278	-0.6673	10	0.52906	T	0.07	.	9.4836	0.38915	0.0:0.7809:0.1428:0.0763	.	352;405;83;309;289	B4DMQ2;Q9H8M2;Q8NDF4;Q9H8M2-1;Q9H8M2-3	.;BRD9_HUMAN;.;.;.	Q	309;289;83;352;405	ENSP00000323557:E309Q;ENSP00000373542:E289Q;ENSP00000419845:E352Q;ENSP00000419765:E405Q	ENSP00000323557:E309Q	E	-	1	0	BRD9	931528	1.000000	0.71417	0.029000	0.17559	0.304000	0.27724	4.660000	0.61511	1.288000	0.44600	0.655000	0.94253	GAG		0.567	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354113.1	NM_023924		13	75	0	0	0	1	0	13	75				
SRD5A3	79644	broad.mit.edu	37	4	56212587	56212587	+	Silent	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:56212587G>A	ENST00000264228.4	+	1	312	c.84G>A	c.(82-84)ctG>ctA	p.L28L		NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	28					androgen biosynthetic process (GO:0006702)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|polyprenol catabolic process (GO:0016095)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)			cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)		Spironolactone(DB00421)	CCTTCCTGCTGACCCTACTGC	0.716																																						ENST00000264228.4																			0				cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12						c.(82-84)ctG>ctA		steroid 5 alpha-reductase 3							7.0	9.0	8.0					4																	56212587		2128	4201	6329	SO:0001819	synonymous_variant	79644				androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	g.chr4:56212587G>A	AK023414	CCDS3498.1	4q12	2009-07-21			ENSG00000128039	ENSG00000128039			25812	protein-coding gene	gene with protein product		611715				17986282	Standard	NM_024592		Approved	FLJ13352, SRD5A2L, SRD5A2L1	uc003hau.3	Q9H8P0	OTTHUMG00000128733	ENST00000264228.4:c.84G>A	4.37:g.56212587G>A							p.L28L	NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	Epithelial(7;0.0179)		1	312	+	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		28					Q4W5Q6	Silent	SNP	ENST00000264228.4	37	c.84G>A	CCDS3498.1																																																																																				0.716	SRD5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250644.2	NM_024592		6	14	0	0	0	1	0	6	14				
ZNF320	162967	broad.mit.edu	37	19	53367338	53367338	+	Missense_Mutation	SNP	G	G	A	rs4803014	byFrequency	TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:53367338G>A	ENST00000597909.1	-	6	534	c.298C>T	c.(298-300)Cgc>Tgc	p.R100C				A2RRD8	ZN320_HUMAN	zinc finger protein 320	0					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)			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TGTATAAAGCGTTCTGTGCAG	0.448													-|||	585	0.116813	0.0408	0.1628	5008	,	,		17094	0.0367		0.2594	False		,,,				2504	0.1227					ENST00000597909.1																			0				NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24						c.(298-300)Cgc>Tgc		zinc finger protein 320																																				SO:0001583	missense	162967				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53367338G>A	AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"""Zinc fingers, C2H2-type"", ""-"""	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000597909.1:c.298C>T	19.37:g.53367338G>A	ENSP00000472908:p.Arg100Cys						p.R100C			A2RRD8	ZN320_HUMAN		GBM - Glioblastoma multiforme(134;0.0534)	6	534	-			0					Q8NDR6	Missense_Mutation	SNP	ENST00000597909.1	37	c.298C>T																																																																																					0.448	ZNF320-012	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463767.1	NM_207333		4	69	0	0	0	1	0	4	69				
LGR6	59352	broad.mit.edu	37	1	202287123	202287123	+	Silent	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:202287123C>T	ENST00000367278.3	+	18	1781	c.1692C>T	c.(1690-1692)atC>atT	p.I564I	LGR6_ENST00000439764.2_Silent_p.I425I|LGR6_ENST00000255432.7_Silent_p.I512I	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	564					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GCTGGGGCATCCGCCTGGCCG	0.622																																						ENST00000367278.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						c.(1690-1692)atC>atT		leucine-rich repeat containing G protein-coupled receptor 6							104.0	99.0	100.0					1																	202287123		2203	4300	6503	SO:0001819	synonymous_variant	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202287123C>T	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.1692C>T	1.37:g.202287123C>T						LGR6_ENST00000439764.2_Silent_p.I425I|LGR6_ENST00000255432.7_Silent_p.I512I	p.I564I	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN			18	1781	+			564					Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Silent	SNP	ENST00000367278.3	37	c.1692C>T	CCDS30971.1																																																																																				0.622	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		38	82	0	0	0	1	0	38	82				
LDHAL6B	92483	broad.mit.edu	37	15	59499845	59499845	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr15:59499845G>T	ENST00000307144.4	+	1	804	c.706G>T	c.(706-708)Gga>Tga	p.G236*	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	236					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						AAGCTGCCATGGATGGATCCT	0.458																																						ENST00000307144.4																			0				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						c.(706-708)Gga>Tga		lactate dehydrogenase A-like 6B	NADH(DB00157)						71.0	71.0	71.0					15																	59499845		2191	4290	6481	SO:0001587	stop_gained	92483				glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding	g.chr15:59499845G>T	AY009108	CCDS10171.1	15q21.3	2011-01-27	2004-07-27	2004-07-28	ENSG00000171989	ENSG00000171989			21481	protein-coding gene	gene with protein product			"""lactate dehydrogenase A-like 6"""	LDHAL6		15870898	Standard	NM_033195		Approved	LDHL, LDH6B	uc002agb.4	Q9BYZ2	OTTHUMG00000132714	ENST00000307144.4:c.706G>T	15.37:g.59499845G>T	ENSP00000302393:p.Gly236*					MYO1E_ENST00000288235.4_Intron	p.G236*	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN			1	804	+			236					Q6DUY4|Q96LI2	Nonsense_Mutation	SNP	ENST00000307144.4	37	c.706G>T	CCDS10171.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.324599	0.81580	.	.	ENSG00000171989	ENST00000307144	.	.	.	1.47	1.47	0.22746	.	0.000000	0.64402	U	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	8.4578	0.32910	0.0:0.0:1.0:0.0	.	.	.	.	X	236	.	ENSP00000302393:G236X	G	+	1	0	LDHAL6B	57287137	1.000000	0.71417	0.007000	0.13788	0.379000	0.30106	6.111000	0.71541	0.784000	0.33661	0.305000	0.20034	GGA		0.458	LDHAL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256015.1	NM_033195		24	102	1	0	2.39556e-15	1	3.23884e-15	24	102				
TP53	7157	broad.mit.edu	37	17	7577574	7577574	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:7577574T>C	ENST00000269305.4	-	7	896	c.707A>G	c.(706-708)tAc>tGc	p.Y236C	TP53_ENST00000359597.4_Missense_Mutation_p.Y236C|TP53_ENST00000445888.2_Missense_Mutation_p.Y236C|TP53_ENST00000455263.2_Missense_Mutation_p.Y236C|TP53_ENST00000413465.2_Missense_Mutation_p.Y236C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Missense_Mutation_p.Y236C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	236	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y236C(61)|p.0?(8)|p.?(5)|p.Y143C(5)|p.Y236del(4)|p.Y236S(3)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.H233fs*6(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236fs*4(1)|p.H233_C242del10(1)|p.N235_Y236delNY(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTTACACATGTAGTTGTAGTG	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		94	Substitution - Missense(69)|Deletion - In frame(9)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(2)|Insertion - Frameshift(1)	p.Y236C(61)|p.0?(8)|p.?(5)|p.Y143C(5)|p.Y236del(4)|p.Y236S(3)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.H233fs*6(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236fs*4(1)|p.H233_C242del10(1)|p.N235_Y236delNY(1)	breast(13)|ovary(13)|lung(9)|haematopoietic_and_lymphoid_tissue(7)|biliary_tract(6)|stomach(6)|oesophagus(6)|upper_aerodigestive_tract(5)|central_nervous_system(5)|urinary_tract(5)|pancreas(5)|prostate(4)|bone(4)|liver(2)|large_intestine(2)|soft_tissue(1)|endometrium(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM004907	TP53	M		c.(706-708)tAc>tGc	Other conserved DNA damage response genes	tumor protein p53							126.0	100.0	109.0					17																	7577574		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577574T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.707A>G	17.37:g.7577574T>C	ENSP00000269305:p.Tyr236Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.Y236C|TP53_ENST00000269305.4_Missense_Mutation_p.Y236C|TP53_ENST00000445888.2_Missense_Mutation_p.Y236C|TP53_ENST00000413465.2_Missense_Mutation_p.Y236C|TP53_ENST00000359597.4_Missense_Mutation_p.Y236C	p.Y236C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	839	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	236		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.707A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	16.62	3.173261	0.57584	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99801	-6.81;-6.81;-6.81;-6.81;-6.81;-6.81;-6.81;-6.81	4.09	0.528	0.17089	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.335105	0.32884	N	0.005532	D	0.99582	0.9849	M	0.74258	2.255	0.44570	D	0.997534	D;D;D;D;D;D	0.89917	0.998;0.982;1.0;0.998;0.999;1.0	D;P;D;D;D;D	0.81914	0.974;0.898;0.99;0.985;0.992;0.995	D	0.99253	1.0888	10	0.87932	D	0	-12.7522	10.2884	0.43581	0.222:0.0:0.0:0.778	.	236;236;143;236;236;236	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	C	236;236;236;236;236;236;225;143;104;143	ENSP00000410739:Y236C;ENSP00000352610:Y236C;ENSP00000269305:Y236C;ENSP00000398846:Y236C;ENSP00000391127:Y236C;ENSP00000391478:Y236C;ENSP00000425104:Y104C;ENSP00000423862:Y143C	ENSP00000269305:Y236C	Y	-	2	0	TP53	7518299	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	1.502000	0.35704	0.034000	0.15491	0.379000	0.24179	TAC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		15	42	0	0	0	1	0	15	42				
PCDHAC1	56135	broad.mit.edu	37	5	140307994	140307994	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:140307994C>T	ENST00000253807.2	+	1	1517	c.1517C>T	c.(1516-1518)gCc>gTc	p.A506V	PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.A506V|PCDHA10_ENST00000506939.2_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	506	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAGTGGGGCCATCACTGCC	0.522																																						ENST00000253807.2																			0				NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65						c.(1516-1518)gCc>gTc									74.0	80.0	78.0					5																	140307994		2203	4300	6503	SO:0001583	missense	56135							g.chr5:140307994C>T	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.1517C>T	5.37:g.140307994C>T	ENSP00000253807:p.Ala506Val					PCDHAC1_ENST00000409700.3_Missense_Mutation_p.A506V|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron	p.A506V	NM_018898.3	NP_061721.2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1517	+								Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	ENST00000253807.2	37	c.1517C>T	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	C	6.563	0.472253	0.12461	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.01126	5.3;5.3	5.49	0.553	0.17235	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.00552	0.0018	N	0.02403	-0.565	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.12156	0.007;0.001	T	0.46965	-0.9153	9	0.29301	T	0.29	.	2.2256	0.03983	0.1203:0.3103:0.1311:0.4384	.	506;506	Q9H158;Q9H158-2	PCDC1_HUMAN;.	V	506	ENSP00000386356:A506V;ENSP00000253807:A506V	ENSP00000253807:A506V	A	+	2	0	PCDHAC1	140288178	0.000000	0.05858	0.007000	0.13788	0.962000	0.63368	-0.462000	0.06704	-0.207000	0.10187	0.563000	0.77884	GCC		0.522	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898		28	116	0	0	0	1	0	28	116				
C9orf3	84909	broad.mit.edu	37	9	97717497	97717497	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:97717497G>A	ENST00000375315.2	+	7	1700	c.1700G>A	c.(1699-1701)gGa>gAa	p.G567E	C9orf3_ENST00000297979.5_Missense_Mutation_p.G468E	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	567					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		AGTGACTCGGGAGCATCTGTT	0.378																																						ENST00000375315.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1699-1701)gGa>gAa		chromosome 9 open reading frame 3							129.0	114.0	119.0					9																	97717497		2203	4300	6503	SO:0001583	missense	84909				leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr9:97717497G>A	AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.1700G>A	9.37:g.97717497G>A	ENSP00000364464:p.Gly567Glu					C9orf3_ENST00000297979.5_Missense_Mutation_p.G468E	p.G567E	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.000275)	7	1700	+			567					Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	ENST00000375315.2	37	c.1700G>A	CCDS55328.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696461	0.48202	.	.	ENSG00000148120	ENST00000297979;ENST00000375315;ENST00000424143;ENST00000428313	T;T;T;T	0.14391	3.6;2.9;3.6;2.51	5.0	5.0	0.66597	.	0.063541	0.64402	D	0.000007	T	0.36303	0.0962	M	0.85630	2.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.97110	0.995;1.0;0.961	T	0.42050	-0.9474	10	0.02654	T	1	-13.3548	15.6802	0.77360	0.0:0.0:1.0:0.0	.	567;468;468	Q8N6M6;Q8N6M6-4;Q8N6M6-2	AMPO_HUMAN;.;.	E	468;567;291;349	ENSP00000297979:G468E;ENSP00000364464:G567E;ENSP00000402171:G291E;ENSP00000401854:G349E	ENSP00000297979:G468E	G	+	2	0	C9orf3	96757318	1.000000	0.71417	0.988000	0.46212	0.357000	0.29423	6.610000	0.74178	2.758000	0.94735	0.655000	0.94253	GGA		0.378	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032823		15	104	0	0	0	1	0	15	104				
TTN	7273	broad.mit.edu	37	2	179431082	179431082	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:179431082C>T	ENST00000591111.1	-	276	75078	c.74854G>A	c.(74854-74856)Gac>Aac	p.D24952N	TTN_ENST00000589042.1_Missense_Mutation_p.D26593N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D17653N|TTN_ENST00000460472.2_Missense_Mutation_p.D17528N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D24025N|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D17720N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24952	Ig-like 123.				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)			GAGTCAAGGTCAAGTTCAGGT	0.433																																						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.(79777-79779)Gac>Aac		titin							144.0	146.0	145.0					2																	179431082		2022	4194	6216	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179431082C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.74854G>A	2.37:g.179431082C>T	ENSP00000465570:p.Asp24952Asn					TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D17528N|TTN_ENST00000359218.5_Missense_Mutation_p.D17653N|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D24025N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D17720N|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D24952N|TTN-AS1_ENST00000590932.1_RNA	p.D26593N	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	80001	-			24952			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.79777G>A		.	.	.	.	.	.	.	.	.	.	C	13.04	2.117992	0.37339	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63580	-0.05;0.16;0.14;0.13	5.91	5.03	0.67393	Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.67933	0.2946	L	0.55990	1.75	0.34159	D	0.668435	P;P;P;P	0.43231	0.651;0.801;0.801;0.501	B;P;P;B	0.49012	0.273;0.598;0.598;0.203	T	0.79308	-0.1857	9	0.87932	D	0	.	15.4647	0.75390	0.0:0.9329:0.0:0.0671	.	17528;17653;17720;24952	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	24025;17528;17720;17653;17526	ENSP00000343764:D24025N;ENSP00000434586:D17528N;ENSP00000340554:D17720N;ENSP00000352154:D17653N	ENSP00000340554:D17720N	D	-	1	0	TTN	179139328	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.787000	0.62432	1.485000	0.48380	0.555000	0.69702	GAC		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		56	203	0	0	0	1	0	56	203				
GPR112	139378	broad.mit.edu	37	X	135431833	135431833	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chrX:135431833T>A	ENST00000394143.1	+	6	6259	c.5968T>A	c.(5968-5970)Tca>Aca	p.S1990T	GPR112_ENST00000394141.1_Missense_Mutation_p.S1785T|GPR112_ENST00000412101.1_Missense_Mutation_p.S1785T|GPR112_ENST00000287534.4_Missense_Mutation_p.S1927T|GPR112_ENST00000370652.1_Missense_Mutation_p.S1990T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1990					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CACACTCCCATCAATTCTTTC	0.448																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(5968-5970)Tca>Aca		G protein-coupled receptor 112							98.0	90.0	93.0					X																	135431833		2203	4298	6501	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135431833T>A	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.5968T>A	X.37:g.135431833T>A	ENSP00000377699:p.Ser1990Thr					GPR112_ENST00000370652.1_Missense_Mutation_p.S1990T|GPR112_ENST00000287534.4_Missense_Mutation_p.S1927T|GPR112_ENST00000412101.1_Missense_Mutation_p.S1785T|GPR112_ENST00000394141.1_Missense_Mutation_p.S1785T	p.S1990T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			6	6259	+	Acute lymphoblastic leukemia(192;0.000127)		1990					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.5968T>A	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	t	3.983	-0.006087	0.07773	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.34072	1.41;1.41;1.38;1.51;1.38	3.73	1.06	0.20224	.	.	.	.	.	T	0.19327	0.0464	N	0.24115	0.695	0.09310	N	1	P;B;B	0.46512	0.879;0.089;0.118	B;B;B	0.40375	0.327;0.042;0.033	T	0.10337	-1.0634	9	0.21014	T	0.42	.	3.9157	0.09222	0.0:0.1245:0.2108:0.6647	.	1927;1785;1990	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	T	1990;1990;1785;1927;1785	ENSP00000377699:S1990T;ENSP00000359686:S1990T;ENSP00000416526:S1785T;ENSP00000287534:S1927T;ENSP00000377697:S1785T	ENSP00000287534:S1927T	S	+	1	0	GPR112	135259499	0.001000	0.12720	0.000000	0.03702	0.089000	0.18198	0.487000	0.22356	-0.069000	0.12931	0.430000	0.28490	TCA		0.448	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			35	66	0	0	0	1	0	35	66				
ZIC4	84107	broad.mit.edu	37	3	147108788	147108788	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:147108788C>G	ENST00000383075.3	-	4	1446	c.934G>C	c.(934-936)Gac>Cac	p.D312H	ZIC4_ENST00000525172.2_Missense_Mutation_p.D362H|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000491672.1_Missense_Mutation_p.D106H|ZIC4_ENST00000425731.3_Missense_Mutation_p.D350H|ZIC4_ENST00000484399.1_Missense_Mutation_p.D312H|ZIC4_ENST00000473123.1_Missense_Mutation_p.D312H	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	312						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						TGGCCGCAGTCCGACGAGGGC	0.687																																						ENST00000383075.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						c.(934-936)Gac>Cac		Zic family member 4							23.0	29.0	27.0					3																	147108788		2117	4251	6368	SO:0001583	missense	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147108788C>G	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.934G>C	3.37:g.147108788C>G	ENSP00000372553:p.Asp312His					ZIC4_ENST00000484399.1_Missense_Mutation_p.D312H|ZIC4_ENST00000525172.2_Missense_Mutation_p.D362H|ZIC4_ENST00000473123.1_Missense_Mutation_p.D312H|ZIC4_ENST00000425731.3_Missense_Mutation_p.D350H|ZIC4_ENST00000491672.1_Missense_Mutation_p.D106H|ZIC4_ENST00000472749.2_5'UTR	p.D312H	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN			4	1446	-			312					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	c.934G>C	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.777374	0.70107	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000491672	T;T;T;T;T;T	0.11712	2.82;2.77;2.75;2.82;2.82;2.82	5.18	4.3	0.51218	.	0.272209	0.25456	N	0.030545	T	0.22627	0.0546	L	0.55990	1.75	0.42515	D	0.992988	P;D	0.61080	0.835;0.989	P;P	0.56514	0.707;0.8	T	0.27226	-1.0080	9	0.72032	D	0.01	.	13.6775	0.62462	0.0:0.9252:0.0:0.0748	.	362;312	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	H	312;350;362;312;312;106	ENSP00000372553:D312H;ENSP00000397695:D350H;ENSP00000435509:D362H;ENSP00000417855:D312H;ENSP00000420775:D312H;ENSP00000418277:D106H	ENSP00000372553:D312H	D	-	1	0	ZIC4	148591478	1.000000	0.71417	0.980000	0.43619	0.554000	0.35429	4.496000	0.60360	1.174000	0.42811	0.561000	0.74099	GAC		0.687	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			11	40	0	0	0	1	0	11	40				
ZDBF2	57683	broad.mit.edu	37	2	207173026	207173026	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:207173026A>T	ENST00000374423.3	+	5	4160	c.3774A>T	c.(3772-3774)gaA>gaT	p.E1258D		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1258							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GCCAACCTGAAGAAGTAGTTA	0.383																																						ENST00000374423.3																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(3772-3774)gaA>gaT		zinc finger, DBF-type containing 2							42.0	45.0	44.0					2																	207173026		1854	4094	5948	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207173026A>T	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.3774A>T	2.37:g.207173026A>T	ENSP00000363545:p.Glu1258Asp						p.E1258D	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	4160	+			1258					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.3774A>T	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	A	9.099	1.003616	0.19121	.	.	ENSG00000204186	ENST00000374423	T	0.55930	0.49	2.91	-0.919	0.10478	.	.	.	.	.	T	0.44329	0.1288	L	0.40543	1.245	0.09310	N	1	D	0.53151	0.958	P	0.49799	0.622	T	0.35748	-0.9776	9	0.22706	T	0.39	.	5.7685	0.18239	0.578:0.0:0.422:0.0	.	1258	Q9HCK1	ZDBF2_HUMAN	D	1258	ENSP00000363545:E1258D	ENSP00000363545:E1258D	E	+	3	2	ZDBF2	206881271	0.936000	0.31750	0.003000	0.11579	0.004000	0.04260	0.245000	0.18142	-0.178000	0.10672	0.528000	0.53228	GAA		0.383	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		19	56	0	0	0	1	0	19	56				
LGALS16	148003	broad.mit.edu	37	19	40151103	40151103	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:40151103T>G	ENST00000392051.3	+	4	440	c.372T>G	c.(370-372)atT>atG	p.I124M		NM_001190441.1	NP_001177370.1			lectin, galactoside-binding, soluble, 16																		TGAAGATGATTCAAGTGTGGA	0.428																																						ENST00000392051.3																			0											c.(370-372)atT>atG		lectin, galactoside-binding, soluble, 16																																				SO:0001583	missense	148003						sugar binding	g.chr19:40151103T>G		CCDS54267.1	19q13.2	2011-08-04			ENSG00000249861	ENSG00000249861		"""Lectins, galactoside-binding"""	40039	protein-coding gene	gene with protein product						19497882	Standard	NM_001190441		Approved		uc021uun.1	A8MUM7		ENST00000392051.3:c.372T>G	19.37:g.40151103T>G	ENSP00000375904:p.Ile124Met						p.I124M	NM_001190441.1	NP_001177370.1	A8MUM7	A8MUM7_HUMAN			4	440	+			124						Missense_Mutation	SNP	ENST00000392051.3	37	c.372T>G	CCDS54267.1	.	.	.	.	.	.	.	.	.	.	.	0.259	-1.000882	0.02128	.	.	ENSG00000249861	ENST00000392051	T	0.19938	2.11	1.21	-2.41	0.06562	.	.	.	.	.	T	0.09247	0.0228	N	0.11313	0.125	0.09310	N	1	B	0.17038	0.02	B	0.19946	0.027	T	0.32745	-0.9895	9	0.36615	T	0.2	.	4.7544	0.13077	0.0:0.0:0.4207:0.5793	.	124	A8MUM7	LEG16_HUMAN	M	124	ENSP00000375904:I124M	ENSP00000375904:I124M	I	+	3	3	LGALS16	44842943	0.000000	0.05858	0.067000	0.19924	0.237000	0.25408	-1.305000	0.02738	-0.413000	0.07507	0.163000	0.16589	ATT		0.428	LGALS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465022.1			10	6	0	0	0	1	0	10	6				
SHISA3	152573	broad.mit.edu	37	4	42403267	42403267	+	Silent	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:42403267C>G	ENST00000319234.4	+	2	734	c.516C>G	c.(514-516)ggC>ggG	p.G172G		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	172					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						GCTCCACAGGCGGCTCCATCC	0.672																																						ENST00000319234.4																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						c.(514-516)ggC>ggG		shisa family member 3							55.0	62.0	59.0					4																	42403267		2203	4299	6502	SO:0001819	synonymous_variant	152573				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane		g.chr4:42403267C>G	BC012029	CCDS33979.1	4p13	2013-07-31	2013-07-31		ENSG00000178343	ENSG00000178343		"""Shisa homologs"""	25159	protein-coding gene	gene with protein product			"""shisa homolog 3 (Xenopus laevis)"""				Standard	NM_001080505		Approved	hShisa3	uc003gwp.3	A0PJX4	OTTHUMG00000161043	ENST00000319234.4:c.516C>G	4.37:g.42403267C>G							p.G172G	NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN			2	734	+			172					A0PJX3|Q96EQ5	Silent	SNP	ENST00000319234.4	37	c.516C>G	CCDS33979.1																																																																																				0.672	SHISA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363539.1	NM_001080505		48	163	0	0	0	1	0	48	163				
SLC10A4	201780	broad.mit.edu	37	4	48490599	48490599	+	Silent	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:48490599T>A	ENST00000273861.4	+	3	1176	c.957T>A	c.(955-957)gcT>gcA	p.A319A	ZAR1_ENST00000327939.4_5'Flank	NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	319						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						ATGGTTTAGCTACTCTCTTCC	0.458																																						ENST00000273861.4																			0				central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						c.(955-957)gcT>gcA		solute carrier family 10, member 4							190.0	184.0	186.0					4																	48490599		2203	4300	6503	SO:0001819	synonymous_variant	201780					integral to membrane	bile acid:sodium symporter activity	g.chr4:48490599T>A	BC012048	CCDS3482.1	4p12	2013-07-18	2013-07-18		ENSG00000145248	ENSG00000145248		"""Solute carriers"""	22980	protein-coding gene	gene with protein product							Standard	NM_152679		Approved	MGC29802	uc003gyc.2	Q96EP9	OTTHUMG00000102092	ENST00000273861.4:c.957T>A	4.37:g.48490599T>A							p.A319A	NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN			3	1176	+			319					Q8WUZ2	Silent	SNP	ENST00000273861.4	37	c.957T>A	CCDS3482.1																																																																																				0.458	SLC10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219926.3	NM_152679		48	172	0	0	0	1	0	48	172				
MYT1L	23040	broad.mit.edu	37	2	1891338	1891338	+	Missense_Mutation	SNP	C	C	G	rs200730994		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:1891338C>G	ENST00000399161.2	-	17	3311	c.2564G>C	c.(2563-2565)cGg>cCg	p.R855P	MYT1L_ENST00000428368.2_Missense_Mutation_p.R853P	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	855					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R855L(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CCCGGGATACCGTCTTTCTTC	0.512																																						ENST00000399161.2																			2	Substitution - Missense(2)	p.R855L(2)	lung(1)|prostate(1)	breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(2563-2565)cGg>cCg		myelin transcription factor 1-like							177.0	174.0	175.0					2																	1891338		1941	4135	6076	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1891338C>G	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.2564G>C	2.37:g.1891338C>G	ENSP00000382114:p.Arg855Pro					MYT1L_ENST00000428368.2_Missense_Mutation_p.R853P	p.R855P	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	17	3311	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	855					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.2564G>C		.	.	.	.	.	.	.	.	.	.	C	14.23	2.473123	0.43942	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.49139	0.79;0.79	5.55	5.55	0.83447	Myelin transcription factor 1 (1);	0.151508	0.64402	D	0.000013	T	0.48040	0.1478	L	0.50333	1.59	0.47153	D	0.999335	B;B	0.24368	0.102;0.032	B;B	0.23574	0.047;0.013	T	0.44967	-0.9293	10	0.66056	D	0.02	-35.8348	19.5067	0.95121	0.0:1.0:0.0:0.0	.	855;853	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	P	855;801;853	ENSP00000382114:R855P;ENSP00000396103:R853P	ENSP00000295067:R801P	R	-	2	0	MYT1L	1870345	0.996000	0.38824	0.996000	0.52242	0.850000	0.48378	3.135000	0.50546	2.609000	0.88269	0.650000	0.86243	CGG		0.512	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		37	133	0	0	0	1	0	37	133				
GRK5	2869	broad.mit.edu	37	10	121207758	121207758	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:121207758C>A	ENST00000392870.2	+	13	1719	c.1390C>A	c.(1390-1392)Ccc>Acc	p.P464T	GRK5_ENST00000369108.3_Missense_Mutation_p.P359T	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	464	AGC-kinase C-terminal.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|phospholipid binding (GO:0005543)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		GTTGGACCCTCCCTTCGTTCC	0.632																																						ENST00000392870.2																			0				endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27						c.(1390-1392)Ccc>Acc		G protein-coupled receptor kinase 5							120.0	130.0	127.0					10																	121207758		2203	4300	6503	SO:0001583	missense	2869				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity	g.chr10:121207758C>A	L15388	CCDS7612.1	10q26.11	2013-09-19	2004-02-04	2004-02-06	ENSG00000198873	ENSG00000198873			4544	protein-coding gene	gene with protein product		600870		GPRK5		7685906	Standard	NM_005308		Approved		uc001led.3	P34947	OTTHUMG00000019149	ENST00000392870.2:c.1390C>A	10.37:g.121207758C>A	ENSP00000376609:p.Pro464Thr					GRK5_ENST00000369108.3_Missense_Mutation_p.P359T	p.P464T	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN		all cancers(201;0.0227)	13	1719	+		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)	464			AGC-kinase C-terminal.		D3DRD0|Q5T059	Missense_Mutation	SNP	ENST00000392870.2	37	c.1390C>A	CCDS7612.1	.	.	.	.	.	.	.	.	.	.	c	15.06	2.719759	0.48728	.	.	ENSG00000198873	ENST00000392870;ENST00000457057;ENST00000369108	T;T	0.58358	0.34;0.34	4.4	4.4	0.53042	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.340067	0.24474	N	0.038202	T	0.64638	0.2616	M	0.90870	3.155	0.80722	D	1	B;B	0.30179	0.001;0.271	B;B	0.31614	0.001;0.133	T	0.73113	-0.4085	10	0.72032	D	0.01	1.16	17.1762	0.86842	0.0:1.0:0.0:0.0	.	464;464	B2R7K0;P34947	.;GRK5_HUMAN	T	464;207;359	ENSP00000376609:P464T;ENSP00000358104:P359T	ENSP00000358104:P359T	P	+	1	0	GRK5	121197748	0.998000	0.40836	1.000000	0.80357	0.971000	0.66376	3.745000	0.55119	2.257000	0.74773	0.655000	0.94253	CCC		0.632	GRK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050652.2	NM_005308		35	172	1	0	9.45814e-24	1	1.40959e-23	35	172				
SPTA1	6708	broad.mit.edu	37	1	158650416	158650416	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:158650416C>A	ENST00000368147.4	-	5	815	c.635G>T	c.(634-636)gGg>gTg	p.G212V		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	212					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.G212V(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AACAACTCTCCCTTCTTTAGC	0.463																																						ENST00000368148.3																			1	Substitution - Missense(1)	p.G212V(1)	lung(1)	NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(634-636)gGg>gTg		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							149.0	148.0	148.0					1																	158650416		1919	4133	6052	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158650416C>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.635G>T	1.37:g.158650416C>A	ENSP00000357129:p.Gly212Val					SPTA1_ENST00000368147.3_Missense_Mutation_p.G212V	p.G212V	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			5	815	-	all_hematologic(112;0.0378)		212					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.635G>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	9.529	1.110406	0.20714	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.35973	1.28;1.28	5.25	1.31	0.21738	.	0.825660	0.09861	N	0.746162	T	0.09818	0.0241	N	0.24115	0.695	0.33249	D	0.55822	B	0.16396	0.017	B	0.19666	0.026	T	0.18681	-1.0329	10	0.33940	T	0.23	.	7.9641	0.30089	0.0:0.4677:0.0:0.5323	.	212	P02549	SPTA1_HUMAN	V	212	ENSP00000357130:G212V;ENSP00000357129:G212V	ENSP00000357129:G212V	G	-	2	0	SPTA1	156917040	0.010000	0.17322	0.000000	0.03702	0.329000	0.28539	1.595000	0.36708	0.083000	0.17047	0.650000	0.86243	GGG		0.463	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		48	130	1	0	2.24722e-20	1	3.261e-20	48	130				
HOPX	84525	broad.mit.edu	37	4	57514899	57514899	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:57514899G>A	ENST00000337881.7	-	3	865	c.209C>T	c.(208-210)tCc>tTc	p.S70F	HOPX_ENST00000555760.2_Missense_Mutation_p.S70F|HOPX_ENST00000556614.2_Missense_Mutation_p.S70F|HOPX_ENST00000381260.3_3'UTR|HOPX_ENST00000556376.2_Missense_Mutation_p.S70F|HOPX_ENST00000503639.3_Missense_Mutation_p.S70F|HOPX_ENST00000553379.2_Missense_Mutation_p.S70F|HOPX_ENST00000381255.3_Missense_Mutation_p.S70F|HOPX_ENST00000420433.1_Missense_Mutation_p.S88F|HOPX_ENST00000554144.1_3'UTR|HOPX_ENST00000508121.1_Missense_Mutation_p.S88F|HOPX_ENST00000317745.7_Missense_Mutation_p.S70F	NM_139212.3	NP_631958.1	Q9BPY8	HOP_HUMAN	HOP homeobox	70					heart development (GO:0007507)|histone deacetylation (GO:0016575)|lung alveolus development (GO:0048286)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of heart contraction (GO:0008016)|regulation of protein binding (GO:0043393)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(2)|lung(5)|skin(1)	8	Glioma(25;0.08)|all_neural(26;0.101)					GTCTGTGACGGATCTGCACTC	0.493																																						ENST00000337881.7																			0				large_intestine(2)|lung(5)|skin(1)	8						c.(208-210)tCc>tTc		HOP homeobox							108.0	100.0	102.0					4																	57514899		2203	4300	6503	SO:0001583	missense	84525				negative regulation of cell differentiation|trophectodermal cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr4:57514899G>A		CCDS3507.1, CCDS47062.1, CCDS54767.1	4q12	2011-06-20			ENSG00000171476	ENSG00000171476		"""Homeoboxes / PRD class"""	24961	protein-coding gene	gene with protein product	"""homeobox only domain"""	607275				12297045	Standard	NM_032495		Approved	LAGY, HOP, OB1, NECC1, SMAP31	uc003hbz.2	Q9BPY8	OTTHUMG00000128768	ENST00000337881.7:c.209C>T	4.37:g.57514899G>A	ENSP00000337330:p.Ser70Phe					HOPX_ENST00000553379.2_Missense_Mutation_p.S70F|HOPX_ENST00000508121.1_Missense_Mutation_p.S88F|HOPX_ENST00000556614.2_Missense_Mutation_p.S70F|HOPX_ENST00000555760.2_Missense_Mutation_p.S70F|HOPX_ENST00000381255.3_Missense_Mutation_p.S70F|HOPX_ENST00000503639.3_Missense_Mutation_p.S70F|HOPX_ENST00000420433.1_Missense_Mutation_p.S88F|HOPX_ENST00000317745.7_Missense_Mutation_p.S70F|HOPX_ENST00000556376.2_Missense_Mutation_p.S70F|HOPX_ENST00000381260.3_3'UTR|HOPX_ENST00000554144.1_3'UTR	p.S70F	NM_139212.3	NP_631958.1	Q9BPY8	HOP_HUMAN			3	865	-	Glioma(25;0.08)|all_neural(26;0.101)		70					A8K0Z2|E9PB55|G3V294|Q8N0V6|Q96CI1	Missense_Mutation	SNP	ENST00000337881.7	37	c.209C>T	CCDS3507.1	.	.	.	.	.	.	.	.	.	.	G	32	5.163268	0.94727	.	.	ENSG00000171476	ENST00000420433;ENST00000508121;ENST00000556376;ENST00000553379;ENST00000381255;ENST00000317745;ENST00000503639;ENST00000337881;ENST00000555760;ENST00000556614;ENST00000514890;ENST00000506661	T;T;T;T;T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01	5.93	5.93	0.95920	Homeodomain-like (1);	.	.	.	.	T	0.79799	0.4508	.	.	.	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.85130	0.997;0.99	T	0.81297	-0.0996	8	0.87932	D	0	.	15.8335	0.78778	0.0:0.0:1.0:0.0	.	88;70	E9PB55;Q9BPY8	.;HOP_HUMAN	F	88;88;70;70;70;70;70;70;70;70;70;70	ENSP00000396275:S88F;ENSP00000422175:S88F;ENSP00000451794:S70F;ENSP00000452340:S70F;ENSP00000370654:S70F;ENSP00000315198:S70F;ENSP00000424101:S70F;ENSP00000337330:S70F;ENSP00000452098:S70F;ENSP00000452003:S70F	ENSP00000315198:S70F	S	-	2	0	HOPX	57209656	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.209000	0.77916	2.818000	0.97014	0.591000	0.81541	TCC		0.493	HOPX-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250689.4			23	124	0	0	0	1	0	23	124				
PARP8	79668	broad.mit.edu	37	5	50091026	50091026	+	Silent	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:50091026G>A	ENST00000281631.5	+	12	1361	c.1203G>A	c.(1201-1203)ttG>ttA	p.L401L	PARP8_ENST00000514342.2_Silent_p.L154L|PARP8_ENST00000514067.2_Silent_p.L401L|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505697.2_Silent_p.L401L|PARP8_ENST00000503750.2_Silent_p.L401L|PARP8_ENST00000505554.1_Silent_p.L380L	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	401						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				ACACAAACTTGAAGCCCCATA	0.413																																						ENST00000281631.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1201-1203)ttG>ttA		poly (ADP-ribose) polymerase family, member 8							91.0	90.0	90.0					5																	50091026		2203	4300	6503	SO:0001819	synonymous_variant	79668					intracellular	NAD+ ADP-ribosyltransferase activity	g.chr5:50091026G>A	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.1203G>A	5.37:g.50091026G>A						PARP8_ENST00000514067.2_Silent_p.L401L|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505554.1_Silent_p.L380L|PARP8_ENST00000505697.2_Silent_p.L401L|PARP8_ENST00000503750.2_Silent_p.L401L|PARP8_ENST00000514342.2_Silent_p.L154L	p.L401L	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN			12	1361	+		Lung NSC(810;0.0305)|Breast(144;0.222)	401					Q3KRB7|Q6DHZ1|Q9H754	Silent	SNP	ENST00000281631.5	37	c.1203G>A	CCDS3954.1																																																																																				0.413	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615		31	83	0	0	0	1	0	31	83				
HGD	3081	broad.mit.edu	37	3	120365157	120365157	+	Silent	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:120365157C>T	ENST00000283871.5	-	9	1065	c.606G>A	c.(604-606)gaG>gaA	p.E202E		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	202					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	homogentisate 1,2-dioxygenase activity (GO:0004411)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		CACCATAGACCTCCAAGATGT	0.473																																						ENST00000283871.5																			0				cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25						c.(604-606)gaG>gaA		homogentisate 1,2-dioxygenase							131.0	121.0	124.0					3																	120365157		2203	4300	6503	SO:0001819	synonymous_variant	3081				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding	g.chr3:120365157C>T		CCDS3000.1	3q	2010-04-27	2010-04-27		ENSG00000113924	ENSG00000113924	1.13.11.5		4892	protein-coding gene	gene with protein product	"""homogentisate oxidase"""	607474	"""homogentisate 1,2-dioxygenase (homogentisate oxidase)"""	AKU		8188241	Standard	NM_000187		Approved	HGO	uc003edw.3	Q93099	OTTHUMG00000159441	ENST00000283871.5:c.606G>A	3.37:g.120365157C>T							p.E202E	NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN		GBM - Glioblastoma multiforme(114;0.158)	9	1065	-			202					A8K417|B2R8Z0	Silent	SNP	ENST00000283871.5	37	c.606G>A	CCDS3000.1	.	.	.	.	.	.	.	.	.	.	C	9.683	1.149776	0.21288	.	.	ENSG00000113924	ENST00000475447;ENST00000494453	.	.	.	5.73	0.764	0.18465	.	.	.	.	.	T	0.56863	0.2014	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49360	-0.8948	4	.	.	.	-0.7177	9.0982	0.36651	0.0:0.5317:0.0:0.4683	.	.	.	.	K	46;9	.	.	R	-	2	0	HGD	121847847	0.939000	0.31865	0.998000	0.56505	0.899000	0.52679	0.070000	0.14573	0.069000	0.16605	0.655000	0.94253	AGG		0.473	HGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355410.1			16	91	0	0	0	1	0	16	91				
COL22A1	169044	broad.mit.edu	37	8	139790650	139790650	+	Splice_Site	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:139790650C>A	ENST00000303045.6	-	15	2151		c.e15-1		COL22A1_ENST00000435777.1_Splice_Site	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1						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)			CTTGGGGCCCCTGCAGAAGAG	0.567										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.e15-1		collagen, type XXII, alpha 1							41.0	45.0	44.0					8																	139790650		2203	4300	6503	SO:0001630	splice_region_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139790650C>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.1705-1G>T	8.37:g.139790650C>A		HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Splice_Site		NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		15	2151	-	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)							B7ZMH0|C9K0G4|Q8IVT9	Splice_Site	SNP	ENST00000303045.6	37		CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	9.616	1.132648	0.21041	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000522546	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9394	0.64046	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL22A1	139859832	1.000000	0.71417	0.994000	0.49952	0.088000	0.18126	3.260000	0.51523	2.756000	0.94617	0.655000	0.94253	.		0.567	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257	Intron	11	51	1	0	1.58986e-06	1	1.80496e-06	11	51				
PCDHA8	56140	broad.mit.edu	37	5	140222519	140222519	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:140222519G>A	ENST00000531613.1	+	1	1613	c.1613G>A	c.(1612-1614)cGc>cAc	p.R538H	PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.R538H|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	538	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R538L(1)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAGCGCGCGCGACGCGGGC	0.667																																						ENST00000531613.1																			1	Substitution - Missense(1)	p.R538L(1)	upper_aerodigestive_tract(1)	NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78						c.(1612-1614)cGc>cAc									53.0	63.0	60.0					5																	140222519		2193	4266	6459	SO:0001583	missense	56140							g.chr5:140222519G>A	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1613G>A	5.37:g.140222519G>A	ENSP00000434655:p.Arg538His					PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.R538H|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	p.R538H	NM_018911.2	NP_061734.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1613	+								B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.1613G>A	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	G	8.895	0.955043	0.18507	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.54479	0.57;0.57	3.72	3.72	0.42706	Cadherin (5);Cadherin-like (1);	0.000000	0.36409	U	0.002602	T	0.40423	0.1116	L	0.42686	1.345	0.09310	N	0.999999	P;P	0.39665	0.682;0.631	B;B	0.40228	0.323;0.216	T	0.41840	-0.9486	10	0.59425	D	0.04	.	2.9589	0.05886	0.1027:0.1634:0.5385:0.1955	.	538;538	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	H	538	ENSP00000434655:R538H;ENSP00000367363:R538H	ENSP00000367363:R538H	R	+	2	0	PCDHA8	140202703	0.000000	0.05858	0.999000	0.59377	0.031000	0.12232	-0.068000	0.11561	1.790000	0.52503	0.306000	0.20318	CGC		0.667	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		52	178	0	0	0	1	0	52	178				
KLHL31	401265	broad.mit.edu	37	6	53519396	53519396	+	Silent	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:53519396T>C	ENST00000407079.1	-	1	674	c.675A>G	c.(673-675)ttA>ttG	p.L225L	KLHL31_ENST00000370905.3_Silent_p.L225L			Q9H511	KLH31_HUMAN	kelch-like family member 31	225	BACK.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					AAGGCAACTGTAAGTCATCAT	0.328																																						ENST00000370905.3																			0				autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20						c.(673-675)ttA>ttG		kelch-like family member 31							82.0	82.0	82.0					6																	53519396		2203	4300	6503	SO:0001819	synonymous_variant	401265				regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr6:53519396T>C		CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743		"""Kelch-like"", ""BTB/POZ domain containing"""	21353	protein-coding gene	gene with protein product		610749	"""kelch repeat and BTB (POZ) domain containing 1"", ""kelch-like 31 (Drosophila)"""	KBTBD1			Standard	NM_001003760		Approved	bA345L23.2, BKLHD6	uc003pcb.4	Q9H511	OTTHUMG00000014882	ENST00000407079.1:c.675A>G	6.37:g.53519396T>C						KLHL31_ENST00000407079.1_Silent_p.L225L	p.L225L	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN			2	815	-	Lung NSC(77;0.0158)		225			BACK.		A6N9J2|B2RP49	Silent	SNP	ENST00000407079.1	37	c.675A>G	CCDS34478.1																																																																																				0.328	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040965.1	NM_001003760		23	94	0	0	0	1	0	23	94				
SLC13A3	64849	broad.mit.edu	37	20	45217895	45217895	+	Splice_Site	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr20:45217895C>T	ENST00000279027.4	-	7	939		c.e7-1		SLC13A3_ENST00000464518.1_5'Flank|SLC13A3_ENST00000396360.1_Splice_Site|SLC13A3_ENST00000495082.1_Splice_Site|SLC13A3_ENST00000472148.1_Splice_Site|SLC13A3_ENST00000372121.1_Splice_Site|SLC13A3_ENST00000413164.2_Splice_Site|SLC13A3_ENST00000290317.5_Splice_Site|SLC13A3_ENST00000435032.1_Splice_Site	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3						transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	CCTCCAGCCCCTGAAACAGAA	0.483																																						ENST00000279027.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.e7-1		solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	Succinic acid(DB00139)						86.0	86.0	86.0					20																	45217895		2203	4300	6503	SO:0001630	splice_region_variant	64849					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	g.chr20:45217895C>T	AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"""Solute carriers"""	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.921-1G>A	20.37:g.45217895C>T						SLC13A3_ENST00000495082.1_Splice_Site|SLC13A3_ENST00000396360.1_Splice_Site|SLC13A3_ENST00000413164.2_Splice_Site|SLC13A3_ENST00000290317.5_Splice_Site|SLC13A3_ENST00000435032.1_Splice_Site|SLC13A3_ENST00000372121.1_Splice_Site|SLC13A3_ENST00000472148.1_Splice_Site		NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN			7	939	-		Myeloproliferative disorder(115;0.0122)						B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Splice_Site	SNP	ENST00000279027.4	37		CCDS13400.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.934420	0.52866	.	.	ENSG00000158296	ENST00000290317;ENST00000396360;ENST00000279027;ENST00000472148;ENST00000413164;ENST00000495082;ENST00000468915;ENST00000450298;ENST00000420568;ENST00000372121	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1475	0.89662	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC13A3	44651302	1.000000	0.71417	0.997000	0.53966	0.442000	0.32017	6.267000	0.72546	2.714000	0.92807	0.655000	0.94253	.		0.483	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2		Intron	28	77	0	0	0	1	0	28	77				
AIM2	9447	broad.mit.edu	37	1	159043310	159043310	+	Splice_Site	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:159043310C>G	ENST00000368130.4	-	2	269		c.e2-1		AIM2_ENST00000411768.1_Splice_Site	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2						activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to drug (GO:0035690)|cellular response to interferon-beta (GO:0035458)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein oligomerization (GO:0032461)|pyroptosis (GO:0070269)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)			breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					TGGGATCAGCCTATAAGGAAT	0.338																																						ENST00000368130.4																			0				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16						c.e2-1		absent in melanoma 2							93.0	96.0	95.0					1																	159043310		2203	4300	6503	SO:0001630	splice_region_variant	9447				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus		g.chr1:159043310C>G	AF024714	CCDS1181.1	1q22	2008-07-18			ENSG00000163568	ENSG00000163568			357	protein-coding gene	gene with protein product		604578				9242382	Standard	NM_004833		Approved	PYHIN4	uc001ftj.1	O14862	OTTHUMG00000037183	ENST00000368130.4:c.20-1G>C	1.37:g.159043310C>G								NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN			2	269	-	all_hematologic(112;0.0429)							A8K7M7|Q5T3V9|Q96FG9	Splice_Site	SNP	ENST00000368130.4	37		CCDS1181.1																																																																																				0.338	AIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090341.1	NM_004833	Intron	32	163	0	0	0	1	0	32	163				
TRIP11	9321	broad.mit.edu	37	14	92472410	92472410	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr14:92472410C>T	ENST00000267622.4	-	11	2283	c.1910G>A	c.(1909-1911)aGt>aAt	p.S637N		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	637					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CTTAAAATTACTATTAGAGTC	0.299			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	ENST00000267622.4				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(1909-1911)aGt>aAt		thyroid hormone receptor interactor 11							46.0	46.0	46.0					14																	92472410		2196	4293	6489	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92472410C>T	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.1910G>A	14.37:g.92472410C>T	ENSP00000267622:p.Ser637Asn						p.S637N	NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	2283	-			637					B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.1910G>A	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	C	7.821	0.717847	0.15372	.	.	ENSG00000100815	ENST00000267622;ENST00000542257	T	0.04156	3.69	6.02	4.19	0.49359	.	0.687667	0.16539	N	0.210059	T	0.06826	0.0174	M	0.62723	1.935	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.002;0.004	T	0.37337	-0.9710	10	0.21540	T	0.41	.	10.0478	0.42197	0.0:0.7318:0.0:0.2682	.	373;637	F5H1Z0;Q15643	.;TRIPB_HUMAN	N	637;373	ENSP00000267622:S637N	ENSP00000267622:S637N	S	-	2	0	TRIP11	91542163	0.005000	0.15991	0.002000	0.10522	0.004000	0.04260	1.513000	0.35823	0.448000	0.26722	-0.813000	0.03139	AGT		0.299	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			15	77	0	0	0	1	0	15	77				
ANKRD52	283373	broad.mit.edu	37	12	56650821	56650821	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:56650821C>T	ENST00000267116.7	-	4	360	c.239G>A	c.(238-240)cGt>cAt	p.R80H		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	80										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GGCAGCAGCACGATGAAGAGG	0.488																																						ENST00000267116.7																			0				endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						c.(238-240)cGt>cAt		ankyrin repeat domain 52							86.0	88.0	87.0					12																	56650821		1990	4168	6158	SO:0001583	missense	283373						protein binding	g.chr12:56650821C>T	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.239G>A	12.37:g.56650821C>T	ENSP00000267116:p.Arg80His						p.R80H	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN			4	360	-			80					A6NE79|B1Q2K2	Missense_Mutation	SNP	ENST00000267116.7	37	c.239G>A	CCDS44920.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.784379	0.90282	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.63580	-0.05	4.24	4.24	0.50183	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.62258	0.2413	N	0.16478	0.41	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.56601	-0.7952	10	0.15499	T	0.54	.	14.5366	0.67966	0.0:1.0:0.0:0.0	.	80	Q8NB46	ANR52_HUMAN	H	80	ENSP00000267116:R80H	ENSP00000267116:R80H	R	-	2	0	ANKRD52	54937088	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.366000	0.79548	2.362000	0.80069	0.591000	0.81541	CGT		0.488	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595		5	23	0	0	0	1	0	5	23				
ZNF585B	92285	broad.mit.edu	37	19	37678134	37678134	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:37678134C>A	ENST00000532828.2	-	5	556	c.305G>T	c.(304-306)tGg>tTg	p.W102L	ZNF585B_ENST00000531805.1_Missense_Mutation_p.W47L|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_5'Flank|ZNF585B_ENST00000527838.1_Missense_Mutation_p.W102L	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	102					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)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.W102T(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTATGGTCCCATAATTTCTC	0.333																																					Melanoma(93;882 1454 18863 28917 48427)	ENST00000532828.2																			1	Substitution - Missense(1)	p.W102T(1)	lung(1)	NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29						c.(304-306)tGg>tTg		zinc finger protein 585B							47.0	51.0	50.0					19																	37678134		2202	4281	6483	SO:0001583	missense	92285				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37678134C>A	AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.305G>T	19.37:g.37678134C>A	ENSP00000433773:p.Trp102Leu					ZNF585B_ENST00000531805.1_Missense_Mutation_p.W47L|ZNF585B_ENST00000527838.1_Missense_Mutation_p.W102L|CTC-454I21.3_ENST00000585860.2_Intron	p.W102L	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	556	-			102					Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	37	c.305G>T	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	C	2.735	-0.263434	0.05754	.	.	ENSG00000245680	ENST00000531805;ENST00000532828;ENST00000527838	T;T;T	0.07908	3.15;3.18;6.86	2.88	-4.07	0.03975	.	1.809090	0.03388	N	0.201441	T	0.03390	0.0098	N	0.04746	-0.17	0.09310	N	1	B	0.14012	0.009	B	0.10450	0.005	T	0.36696	-0.9737	10	0.27082	T	0.32	.	1.1572	0.01798	0.1503:0.3156:0.1493:0.3848	.	102	Q52M93	Z585B_HUMAN	L	47;102;102	ENSP00000436774:W47L;ENSP00000433773:W102L;ENSP00000435268:W102L	ENSP00000435268:W102L	W	-	2	0	ZNF585B	42369974	0.000000	0.05858	0.286000	0.24833	0.407000	0.30961	-0.151000	0.10175	-0.613000	0.05694	-0.538000	0.04264	TGG		0.333	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279		22	89	1	0	1.10513e-12	1	1.4363e-12	22	89				
SPHKAP	80309	broad.mit.edu	37	2	228881799	228881799	+	Silent	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:228881799G>T	ENST00000392056.3	-	7	3817	c.3771C>A	c.(3769-3771)gcC>gcA	p.A1257A	SPHKAP_ENST00000344657.5_Silent_p.A1257A	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1257						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTAAAGAGTTGGCTTTGATGG	0.542																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(3769-3771)gcC>gcA		SPHK1 interactor, AKAP domain containing							64.0	62.0	63.0					2																	228881799		2203	4300	6503	SO:0001819	synonymous_variant	80309					cytoplasm	protein binding	g.chr2:228881799G>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.3771C>A	2.37:g.228881799G>T						SPHKAP_ENST00000344657.5_Silent_p.A1257A	p.A1257A	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	3817	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1257					Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	37	c.3771C>A	CCDS46537.1																																																																																				0.542	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		29	75	1	0	1.12875e-08	1	1.3531e-08	29	75				
DLEC1	9940	broad.mit.edu	37	3	38155897	38155897	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:38155897C>A	ENST00000308059.6	+	26	3752	c.3731C>A	c.(3730-3732)tCc>tAc	p.S1244Y	DLEC1_ENST00000346219.3_Missense_Mutation_p.S1244Y|DLEC1_ENST00000452631.2_Missense_Mutation_p.S1247Y					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCCATCAGCTCCCTGAGGACC	0.612																																						ENST00000308059.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(3730-3732)tCc>tAc		deleted in lung and esophageal cancer 1							59.0	69.0	66.0					3																	38155897		2140	4238	6378	SO:0001583	missense	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38155897C>A	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.3731C>A	3.37:g.38155897C>A	ENSP00000308597:p.Ser1244Tyr					DLEC1_ENST00000452631.2_Missense_Mutation_p.S1247Y|DLEC1_ENST00000346219.3_Missense_Mutation_p.S1244Y	p.S1244Y			Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	26	3752	+			1244						Missense_Mutation	SNP	ENST00000308059.6	37	c.3731C>A	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	C	10.08	1.252992	0.22965	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.48201	0.82;0.82;0.82	5.18	1.93	0.25924	.	0.374553	0.24957	N	0.034253	T	0.24005	0.0581	L	0.37897	1.145	0.26247	N	0.978786	P;P;P;P	0.49090	0.919;0.771;0.87;0.919	B;B;B;B	0.36719	0.231;0.209;0.231;0.231	T	0.33214	-0.9877	10	0.02654	T	1	-12.5822	5.5441	0.17053	0.0:0.5137:0.0:0.4863	.	1247;1244;1244;1244	F8W6T4;B7ZW06;Q9Y238-3;Q9Y238	.;.;.;DLEC1_HUMAN	Y	1244;1244;1247	ENSP00000308597:S1244Y;ENSP00000315914:S1244Y;ENSP00000410427:S1247Y	ENSP00000308597:S1244Y	S	+	2	0	DLEC1	38130901	1.000000	0.71417	0.886000	0.34754	0.877000	0.50540	3.102000	0.50291	0.580000	0.29522	0.561000	0.74099	TCC		0.612	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		12	32	1	0	3.07112e-06	1	3.47131e-06	12	32				
DNAH5	1767	broad.mit.edu	37	5	13931227	13931227	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:13931227C>T	ENST00000265104.4	-	2	288	c.184G>A	c.(184-186)Ggg>Agg	p.G62R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	62	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACCTGATTCCCTTCAAGAATG	0.502									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(184-186)Ggg>Agg		dynein, axonemal, heavy chain 5							119.0	113.0	115.0					5																	13931227		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13931227C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.184G>A	5.37:g.13931227C>T	ENSP00000265104:p.Gly62Arg						p.G62R	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			2	288	-	Lung NSC(4;0.00476)		62			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.184G>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.256784	0.22965	.	.	ENSG00000039139	ENST00000265104	T	0.23754	1.89	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.31040	0.0784	M	0.78637	2.42	0.80722	D	1	P	0.37441	0.595	B	0.28232	0.087	T	0.16041	-1.0416	10	0.33141	T	0.24	.	19.2383	0.93871	0.0:1.0:0.0:0.0	.	62	Q8TE73	DYH5_HUMAN	R	62	ENSP00000265104:G62R	ENSP00000265104:G62R	G	-	1	0	DNAH5	13984227	1.000000	0.71417	1.000000	0.80357	0.177000	0.22998	5.160000	0.64929	2.721000	0.93114	0.650000	0.86243	GGG		0.502	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		28	83	0	0	0	1	0	28	83				
NAV3	89795	broad.mit.edu	37	12	78583812	78583812	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:78583812C>T	ENST00000397909.2	+	34	6277	c.6104C>T	c.(6103-6105)cCt>cTt	p.P2035L	NAV3_ENST00000228327.6_Missense_Mutation_p.P2013L|NAV3_ENST00000266692.7_Missense_Mutation_p.P1836L|NAV3_ENST00000536525.2_Missense_Mutation_p.P2013L|NAV3_ENST00000552300.1_3'UTR			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2035						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACGCTGATTCCTAAACCAATT	0.353										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(6103-6105)cCt>cTt		neuron navigator 3							112.0	103.0	106.0					12																	78583812		1922	4148	6070	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78583812C>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.6104C>T	12.37:g.78583812C>T	ENSP00000381007:p.Pro2035Leu	HNSCC(70;0.22)				NAV3_ENST00000536525.2_Missense_Mutation_p.P2013L|NAV3_ENST00000266692.7_Missense_Mutation_p.P1836L|NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000228327.6_Missense_Mutation_p.P2013L	p.P2035L			Q8IVL0	NAV3_HUMAN			34	6277	+			2035					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.6104C>T		.	.	.	.	.	.	.	.	.	.	C	21.1	4.095639	0.76870	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	D;D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28;-2.28	5.03	3.16	0.36331	.	0.000000	0.40064	U	0.001197	D	0.91566	0.7336	M	0.71581	2.175	0.80722	D	1	D;B;D;B	0.89917	1.0;0.004;1.0;0.01	D;B;D;B	0.97110	1.0;0.007;0.999;0.018	D	0.90633	0.4568	10	0.72032	D	0.01	-15.9984	9.9473	0.41616	0.1384:0.7886:0.0:0.073	.	2013;1836;2035;2013	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.;.;NAV3_HUMAN;.	L	2013;2035;2013;1836;627;635	ENSP00000446132:P2013L;ENSP00000381007:P2035L;ENSP00000228327:P2013L;ENSP00000266692:P1836L;ENSP00000448303:P635L	ENSP00000228327:P2013L	P	+	2	0	NAV3	77107943	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.720000	0.84759	0.601000	0.29879	-0.140000	0.14226	CCT		0.353	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		19	107	0	0	0	1	0	19	107				
SYT7	9066	broad.mit.edu	37	11	61295584	61295584	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:61295584C>A	ENST00000263846.4	-	5	752	c.425G>T	c.(424-426)aGt>aTt	p.S142I	SYT7_ENST00000542670.1_Missense_Mutation_p.S350I|SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000540677.1_Missense_Mutation_p.S217I|SYT7_ENST00000535826.1_Missense_Mutation_p.S261I|SYT7_ENST00000542836.1_Missense_Mutation_p.S186I|SYT7_ENST00000539008.1_Missense_Mutation_p.S425I	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	142	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GTAGCCGACACTGAACTGGAT	0.662																																						ENST00000263846.4																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(424-426)aGt>aTt		synaptotagmin VII							59.0	65.0	63.0					11																	61295584		2202	4299	6501	SO:0001583	missense	9066					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr11:61295584C>A	AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"""Synaptotagmins"""	11514	protein-coding gene	gene with protein product		604146	"""prostate cancer associated protein 7"""	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.425G>T	11.37:g.61295584C>A	ENSP00000263846:p.Ser142Ile					SYT7_ENST00000542836.1_Missense_Mutation_p.S186I|SYT7_ENST00000542670.1_Missense_Mutation_p.S350I|SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000540677.1_Missense_Mutation_p.S217I|SYT7_ENST00000539008.1_Missense_Mutation_p.S425I|SYT7_ENST00000535826.1_Missense_Mutation_p.S261I	p.S142I	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN			5	752	-			142			C2 1.		F5GZU9|Q08AH6	Missense_Mutation	SNP	ENST00000263846.4	37	c.425G>T	CCDS31577.1	.	.	.	.	.	.	.	.	.	.	C	19.87	3.907865	0.72868	.	.	ENSG00000011347	ENST00000263846;ENST00000540677;ENST00000539008;ENST00000542836;ENST00000542670;ENST00000535826;ENST00000545053	T;T;T;T;T;T;T	0.74002	2.93;2.93;2.93;2.93;2.93;2.93;-0.8	4.44	4.44	0.53790	C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.161808	0.64402	D	0.000002	D	0.84374	0.5458	M	0.62088	1.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.85359	0.1106	10	0.52906	T	0.07	.	17.5426	0.87852	0.0:1.0:0.0:0.0	.	217;142	F5GZU9;O43581	.;SYT7_HUMAN	I	142;217;425;186;350;261;142	ENSP00000263846:S142I;ENSP00000444201:S217I;ENSP00000439694:S425I;ENSP00000444568:S186I;ENSP00000444019:S350I;ENSP00000437720:S261I;ENSP00000443576:S142I	ENSP00000263846:S142I	S	-	2	0	SYT7	61052160	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	3.103000	0.50298	2.420000	0.82092	0.561000	0.74099	AGT		0.662	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398733.1	NM_004200		28	72	1	0	3.73148e-12	1	4.78522e-12	28	72				
SLC37A2	219855	broad.mit.edu	37	11	124950548	124950548	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:124950548C>T	ENST00000403796.2	+	7	867	c.566C>T	c.(565-567)tCt>tTt	p.S189F	SLC37A2_ENST00000308074.4_Missense_Mutation_p.S189F|SLC37A2_ENST00000407458.1_Missense_Mutation_p.S189F|SLC37A2_ENST00000298280.5_Missense_Mutation_p.S189F	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	189					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		TCCCACACATCTGTGGGCAAC	0.547																																					Melanoma(11;373 620 21213 26083 47768)	ENST00000403796.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27						c.(565-567)tCt>tTt		solute carrier family 37 (glucose-6-phosphate transporter), member 2							81.0	76.0	78.0					11																	124950548		2201	4299	6500	SO:0001583	missense	219855				carbohydrate transport|transmembrane transport	integral to membrane		g.chr11:124950548C>T	AK074100	CCDS31714.1, CCDS44757.1	11q24.2	2013-07-17	2013-07-17		ENSG00000134955	ENSG00000134955		"""Solute carriers"""	20644	protein-coding gene	gene with protein product			"""solute carrier family 37 (glycerol-3-phosphate transporter), member 2"""				Standard	NM_198277		Approved	FLJ00171	uc010sau.2	Q8TED4	OTTHUMG00000165879	ENST00000403796.2:c.566C>T	11.37:g.124950548C>T	ENSP00000384407:p.Ser189Phe					SLC37A2_ENST00000308074.4_Missense_Mutation_p.S189F|SLC37A2_ENST00000298280.5_Missense_Mutation_p.S189F|SLC37A2_ENST00000407458.1_Missense_Mutation_p.S189F	p.S189F	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)	7	867	+	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)	189					A8K2P9|Q6P599|Q7Z7P8|Q8TEM2	Missense_Mutation	SNP	ENST00000403796.2	37	c.566C>T	CCDS44757.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.919575	0.92249	.	.	ENSG00000134955	ENST00000403796;ENST00000407458;ENST00000298280;ENST00000308074	T;T;T;T	0.60672	0.17;0.17;0.17;0.17	5.08	5.08	0.68730	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.057251	0.64402	D	0.000001	T	0.80768	0.4686	M	0.88450	2.955	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.964	D	0.84467	0.0597	10	0.87932	D	0	-23.0702	18.6527	0.91437	0.0:1.0:0.0:0.0	.	189;189	Q8TED4-2;Q8TED4	.;SPX2_HUMAN	F	189	ENSP00000384407:S189F;ENSP00000385126:S189F;ENSP00000298280:S189F;ENSP00000311833:S189F	ENSP00000298280:S189F	S	+	2	0	SLC37A2	124455758	1.000000	0.71417	0.709000	0.30452	0.982000	0.71751	7.627000	0.83176	2.653000	0.90120	0.563000	0.77884	TCT		0.547	SLC37A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000386837.1	XM_166184		12	60	0	0	0	1	0	12	60				
USH2A	7399	broad.mit.edu	37	1	216372990	216372990	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:216372990A>T	ENST00000307340.3	-	17	4176	c.3790T>A	c.(3790-3792)Tct>Act	p.S1264T	RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366942.3_Missense_Mutation_p.S1264T|USH2A_ENST00000366943.2_Missense_Mutation_p.S1264T	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1264	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCTGGTGGAGACCATTCTACA	0.438										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(3790-3792)Tct>Act		Usher syndrome 2A (autosomal recessive, mild)							98.0	91.0	93.0					1																	216372990		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216372990A>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.3790T>A	1.37:g.216372990A>T	ENSP00000305941:p.Ser1264Thr	HNSCC(13;0.011)				USH2A_ENST00000366942.3_Missense_Mutation_p.S1264T|RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.S1264T	p.S1264T			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	17	4176	-			1264			Fibronectin type-III 3.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.3790T>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	14.51	2.558237	0.45590	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.57273	0.41;0.41;0.41	5.87	-7.18	0.01505	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.555900	0.14874	N	0.293357	T	0.39279	0.1072	L	0.52206	1.635	0.21915	N	0.999478	P;P	0.36354	0.546;0.549	B;B	0.38378	0.117;0.272	T	0.33879	-0.9851	10	0.20519	T	0.43	.	11.7038	0.51585	0.2429:0.622:0.0535:0.0816	.	1264;1264	O75445-2;O75445	.;USH2A_HUMAN	T	1264	ENSP00000305941:S1264T;ENSP00000355910:S1264T;ENSP00000355909:S1264T	ENSP00000305941:S1264T	S	-	1	0	USH2A	214439613	0.706000	0.27856	0.521000	0.27850	0.119000	0.20118	-0.093000	0.11111	-1.158000	0.02811	0.533000	0.62120	TCT		0.438	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		39	92	0	0	0	1	0	39	92				
SYNPO2	171024	broad.mit.edu	37	4	119948120	119948120	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:119948120T>A	ENST00000429713.2	+	3	778	c.596T>A	c.(595-597)cTg>cAg	p.L199Q	SYNPO2_ENST00000434046.2_Missense_Mutation_p.L199Q|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000307142.4_Missense_Mutation_p.L199Q	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	199						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GTGGTTGAGCTGCAACTGTCC	0.557																																						ENST00000307142.4																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(595-597)cTg>cAg		synaptopodin 2							40.0	47.0	45.0					4																	119948120		2203	4300	6503	SO:0001583	missense	171024					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119948120T>A	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.596T>A	4.37:g.119948120T>A	ENSP00000395143:p.Leu199Gln					SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Missense_Mutation_p.L199Q|SYNPO2_ENST00000429713.2_Missense_Mutation_p.L199Q	p.L199Q	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN			3	792	+			199					B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000429713.2	37	c.596T>A	CCDS47129.1	.	.	.	.	.	.	.	.	.	.	T	18.05	3.536629	0.65085	.	.	ENSG00000172403	ENST00000307142;ENST00000429713;ENST00000434046	T;T;T	0.12879	2.64;2.73;2.71	5.51	5.51	0.81932	.	0.143577	0.31872	N	0.006931	T	0.35856	0.0946	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.998;0.998	T	0.07177	-1.0786	10	0.62326	D	0.03	-9.4419	14.1947	0.65662	0.0:0.0:0.0:1.0	.	199;199;199;199	B9EG60;Q9UMS6-2;E9PEM2;Q9UMS6	.;.;.;SYNP2_HUMAN	Q	199	ENSP00000306015:L199Q;ENSP00000395143:L199Q;ENSP00000390965:L199Q	ENSP00000306015:L199Q	L	+	2	0	SYNPO2	120167568	1.000000	0.71417	0.836000	0.33094	0.481000	0.33189	5.061000	0.64319	2.091000	0.63221	0.455000	0.32223	CTG		0.557	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1			8	38	0	0	0	1	0	8	38				
THBS2	7058	broad.mit.edu	37	6	169620339	169620339	+	Missense_Mutation	SNP	G	G	T	rs573907740		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:169620339G>T	ENST00000366787.3	-	22	3714	c.3465C>A	c.(3463-3465)ttC>ttA	p.F1155L	XXyac-YX65C7_A.2_ENST00000444188.1_RNA|THBS2_ENST00000488355.1_5'UTR	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	1155	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				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)		TTTCTTGAGAGAAGACAAATA	0.488																																					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.(3463-3465)ttC>ttA		thrombospondin 2							140.0	141.0	141.0					6																	169620339		2203	4300	6503	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169620339G>T		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.3465C>A	6.37:g.169620339G>T	ENSP00000355751:p.Phe1155Leu					XXyac-YX65C7_A.2_ENST00000444188.1_RNA|THBS2_ENST00000488355.1_5'UTR	p.F1155L	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)	22	3714	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	1155			TSP C-terminal.		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.3465C>A	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148604	0.78001	.	.	ENSG00000186340	ENST00000366787;ENST00000392099	D	0.92249	-3.0	4.64	4.64	0.57946	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.000000	0.43260	U	0.000586	D	0.94925	0.8359	M	0.81682	2.555	0.47547	D	0.99945	D	0.89917	1.0	D	0.91635	0.999	D	0.95471	0.8551	10	0.87932	D	0	-44.1724	12.0463	0.53480	0.0838:0.0:0.9162:0.0	.	1155	P35442	TSP2_HUMAN	L	1155;413	ENSP00000355751:F1155L	ENSP00000355751:F1155L	F	-	3	2	THBS2	169362264	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.072000	0.50049	2.115000	0.64714	0.478000	0.44815	TTC		0.488	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		49	317	1	0	3.7052e-28	1	5.63074e-28	49	317				
PCSK5	5125	broad.mit.edu	37	9	78953339	78953339	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:78953339C>T	ENST00000545128.1	+	34	5399	c.4861C>T	c.(4861-4863)Cat>Tat	p.H1621Y		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	1621	CRM (Cys-rich motif).				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TGAGAGATGCCATCCGACTTG	0.448																																						ENST00000545128.1																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(4861-4863)Cat>Tat		proprotein convertase subtilisin/kexin type 5							56.0	48.0	50.0					9																	78953339		876	1991	2867	SO:0001583	missense	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78953339C>T		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.4861C>T	9.37:g.78953339C>T	ENSP00000446280:p.His1621Tyr						p.H1621Y	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN			34	5399	+			786					F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.4861C>T	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.685978	0.68157	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000424854	T;T	0.63744	-0.06;-0.06	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.79246	0.4413	M	0.79343	2.45	0.58432	D	0.99999	.	.	.	.	.	.	T	0.80061	-0.1540	8	0.62326	D	0.03	-21.0341	19.7325	0.96188	0.0:1.0:0.0:0.0	.	.	.	.	Y	1621;1351;1321	ENSP00000446280:H1621Y;ENSP00000411654:H1321Y	ENSP00000365945:H1351Y	H	+	1	0	PCSK5	78143159	1.000000	0.71417	0.998000	0.56505	0.472000	0.32918	2.722000	0.47269	2.763000	0.94921	0.563000	0.77884	CAT		0.448	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				10	41	0	0	0	1	0	10	41				
PHRF1	57661	broad.mit.edu	37	11	608969	608969	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:608969G>T	ENST00000264555.5	+	14	3641	c.3513G>T	c.(3511-3513)agG>agT	p.R1171S	PHRF1_ENST00000416188.2_Missense_Mutation_p.R1170S|PHRF1_ENST00000413872.2_Missense_Mutation_p.R1169S|PHRF1_ENST00000533464.1_Missense_Mutation_p.R1167S	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1171	Arg-rich.				mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CGGAGCACAGGGCACGGGAGC	0.706																																						ENST00000264555.5																			0				breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						c.(3511-3513)agG>agT		PHD and ring finger domains 1							12.0	14.0	13.0					11																	608969		2151	4234	6385	SO:0001583	missense	57661						RNA polymerase binding|zinc ion binding	g.chr11:608969G>T	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.3513G>T	11.37:g.608969G>T	ENSP00000264555:p.Arg1171Ser					PHRF1_ENST00000416188.2_Missense_Mutation_p.R1170S|PHRF1_ENST00000413872.2_Missense_Mutation_p.R1169S|PHRF1_ENST00000533464.1_Missense_Mutation_p.R1167S	p.R1171S	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN			14	3641	+			1171			Arg-rich.		A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.3513G>T		.	.	.	.	.	.	.	.	.	.	G	7.678	0.688305	0.14973	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	4.67	1.67	0.24075	.	0.000000	0.44285	D	0.000471	T	0.29749	0.0743	L	0.32530	0.975	0.09310	N	1	B;P;P;B	0.36712	0.431;0.566;0.566;0.431	B;B;B;B	0.41299	0.192;0.353;0.353;0.192	T	0.19877	-1.0292	10	0.87932	D	0	-17.3506	2.7112	0.05175	0.2822:0.0:0.3613:0.3565	.	1167;1169;1170;1171	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	S	1171;1169;1170;1167	ENSP00000264555:R1171S;ENSP00000388589:R1169S;ENSP00000410626:R1170S;ENSP00000431870:R1167S	ENSP00000264555:R1171S	R	+	3	2	PHRF1	598969	0.050000	0.20438	0.013000	0.15412	0.007000	0.05969	1.012000	0.29924	0.179000	0.19938	-0.379000	0.06801	AGG		0.706	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		9	13	1	0	0.00448238	1	0.00463239	9	13				
PGBD2	267002	broad.mit.edu	37	1	249212489	249212489	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:249212489A>G	ENST00000329291.5	+	3	1853	c.1706A>G	c.(1705-1707)cAg>cGg	p.Q569R	PGBD2_ENST00000355360.4_Missense_Mutation_p.Q318R|PGBD2_ENST00000539153.1_Missense_Mutation_p.Q566R	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	569										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TGCCACTCACAGACCAACACC	0.542																																						ENST00000355360.4																			0				NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14						c.(952-954)cAg>cGg		piggyBac transposable element derived 2							116.0	121.0	120.0					1																	249212489		2203	4300	6503	SO:0001583	missense	267002							g.chr1:249212489A>G	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.1706A>G	1.37:g.249212489A>G	ENSP00000331643:p.Gln569Arg					PGBD2_ENST00000329291.5_Missense_Mutation_p.Q569R|PGBD2_ENST00000539153.1_Missense_Mutation_p.Q566R	p.Q318R	NM_001017434.1	NP_001017434.1	Q6P3X8	PGBD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		3	1223	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	569					B3KVR8|Q6MZF8	Missense_Mutation	SNP	ENST00000329291.5	37	c.953A>G	CCDS31128.1	.	.	.	.	.	.	.	.	.	.	.	11.02	1.516371	0.27123	.	.	ENSG00000185220	ENST00000355360;ENST00000329291;ENST00000539153	D;D;D	0.83914	-1.78;-1.78;-1.78	3.12	3.12	0.35913	.	0.138395	0.31834	N	0.006999	T	0.63082	0.2481	N	0.12182	0.205	0.22213	N	0.999283	P;P	0.43477	0.571;0.808	B;B	0.38712	0.28;0.145	T	0.55412	-0.8145	10	0.16896	T	0.51	.	8.004	0.30315	1.0:0.0:0.0:0.0	.	566;569	F5H4U7;Q6P3X8	.;PGBD2_HUMAN	R	318;569;566	ENSP00000355424:Q318R;ENSP00000331643:Q569R;ENSP00000439950:Q566R	ENSP00000331643:Q569R	Q	+	2	0	PGBD2	247179112	0.998000	0.40836	0.829000	0.32907	0.001000	0.01503	3.593000	0.54001	1.650000	0.50662	0.482000	0.46254	CAG		0.542	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			45	143	0	0	0	1	0	45	143				
REG1B	5968	broad.mit.edu	37	2	79314679	79314679	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:79314679G>T	ENST00000305089.3	-	2	140	c.60C>A	c.(58-60)agC>agA	p.S20R		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	20					cell proliferation (GO:0008283)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						TCTCACCTTGGCTCAGAGACA	0.473																																						ENST00000305089.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						c.(58-60)agC>agA		regenerating islet-derived 1 beta							127.0	104.0	112.0					2																	79314679		2203	4300	6503	SO:0001583	missense	5968				cell proliferation	extracellular region	sugar binding	g.chr2:79314679G>T		CCDS1963.1	2p12	2008-06-04	2008-06-04		ENSG00000172023	ENSG00000172023			9952	protein-coding gene	gene with protein product	"""lithostathine 1 beta"", ""secretory pancreatic stone protein 2"""	167771	"""regenerating islet-derived 1 beta (pancreatic stone protein, pancreatic thread protein)"""			8110835	Standard	NM_006507		Approved	REGL, PSPS2, REGH, REGI-BETA	uc002sny.2	P48304	OTTHUMG00000130019	ENST00000305089.3:c.60C>A	2.37:g.79314679G>T	ENSP00000303206:p.Ser20Arg						p.S20R	NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN			2	140	-			20						Missense_Mutation	SNP	ENST00000305089.3	37	c.60C>A	CCDS1963.1	.	.	.	.	.	.	.	.	.	.	g	12.58	1.981404	0.34942	.	.	ENSG00000172023	ENST00000305089	T	0.04083	3.71	2.71	0.791	0.18619	.	0.824352	0.10211	N	0.702174	T	0.07052	0.0179	M	0.70595	2.14	0.24933	N	0.991909	P;P	0.42757	0.789;0.789	B;B	0.44278	0.445;0.445	T	0.29852	-0.9998	10	0.12766	T	0.61	.	3.7583	0.08593	0.1517:0.2586:0.5897:0.0	.	20;20	Q6ICS1;P48304	.;REG1B_HUMAN	R	20	ENSP00000303206:S20R	ENSP00000303206:S20R	S	-	3	2	REG1B	79168187	0.035000	0.19736	0.921000	0.36526	0.942000	0.58702	-0.030000	0.12308	0.184000	0.20083	0.555000	0.69702	AGC		0.473	REG1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252292.2	NM_006507		7	30	1	0	6.5536e-12	1	8.37646e-12	7	30				
DNAH5	1767	broad.mit.edu	37	5	13753572	13753572	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:13753572T>G	ENST00000265104.4	-	63	10746	c.10642A>C	c.(10642-10644)Aag>Cag	p.K3548Q		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3548					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTCATTTCCTTCCGCCAGTCA	0.393									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(10642-10644)Aag>Cag		dynein, axonemal, heavy chain 5							112.0	115.0	114.0					5																	13753572		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13753572T>G	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10642A>C	5.37:g.13753572T>G	ENSP00000265104:p.Lys3548Gln						p.K3548Q	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			63	10746	-	Lung NSC(4;0.00476)		3548					Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.10642A>C	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	11.96	1.793930	0.31777	.	.	ENSG00000039139	ENST00000265104	T	0.24151	1.87	5.77	5.77	0.91146	.	0.234251	0.44902	D	0.000418	T	0.29028	0.0721	M	0.65498	2.005	0.33473	D	0.586504	B	0.15473	0.013	B	0.24848	0.056	T	0.34179	-0.9839	10	0.19147	T	0.46	.	12.858	0.57897	0.0:0.0:0.1358:0.8642	.	3548	Q8TE73	DYH5_HUMAN	Q	3548	ENSP00000265104:K3548Q	ENSP00000265104:K3548Q	K	-	1	0	DNAH5	13806572	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.764000	0.47613	2.326000	0.78906	0.533000	0.62120	AAG		0.393	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		36	169	0	0	0	1	0	36	169				
PCSK2	5126	broad.mit.edu	37	20	17437036	17437036	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr20:17437036G>T	ENST00000262545.2	+	10	1460	c.1145G>T	c.(1144-1146)gGg>gTg	p.G382V	PCSK2_ENST00000377899.1_Missense_Mutation_p.G363V|PCSK2_ENST00000536609.1_Missense_Mutation_p.G347V	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	382	Peptidase S8.				cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AGGCATTCTGGGACATCTGCA	0.542																																						ENST00000262545.2																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1144-1146)gGg>gTg		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						168.0	169.0	169.0					20																	17437036		2203	4300	6503	SO:0001583	missense	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17437036G>T	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1145G>T	20.37:g.17437036G>T	ENSP00000262545:p.Gly382Val					PCSK2_ENST00000536609.1_Missense_Mutation_p.G347V|PCSK2_ENST00000377899.1_Missense_Mutation_p.G363V	p.G382V	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN			10	1460	+			382			Catalytic.		B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	ENST00000262545.2	37	c.1145G>T	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	G	31	5.071659	0.93950	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	D;D;D	0.91407	-2.84;-2.84;-2.84	5.93	5.93	0.95920	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.044709	0.85682	D	0.000000	D	0.97451	0.9166	H	0.97918	4.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98378	1.0557	10	0.87932	D	0	-31.7146	18.8972	0.92429	0.0:0.0:1.0:0.0	.	347;382	B4DFQ3;P16519	.;NEC2_HUMAN	V	363;382;347	ENSP00000367131:G363V;ENSP00000262545:G382V;ENSP00000437458:G347V	ENSP00000262545:G382V	G	+	2	0	PCSK2	17385036	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.772000	0.98984	2.818000	0.97014	0.591000	0.81541	GGG		0.542	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		46	180	1	0	2.43468e-25	1	3.65676e-25	46	180				
ZBTB20	26137	broad.mit.edu	37	3	114058212	114058212	+	Silent	SNP	G	G	T	rs148654668		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:114058212G>T	ENST00000474710.1	-	5	2044	c.1866C>A	c.(1864-1866)atC>atA	p.I622I	ZBTB20_ENST00000464560.1_Silent_p.I549I|ZBTB20_ENST00000462705.1_Silent_p.I549I|ZBTB20_ENST00000481632.1_Silent_p.I549I|ZBTB20_ENST00000393785.2_Silent_p.I549I|ZBTB20_ENST00000471418.1_Silent_p.I549I|ZBTB20_ENST00000357258.3_Silent_p.I549I	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	622						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CCATGTGCTTGATAAGGTAAT	0.527																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(1645-1647)atC>atA		zinc finger and BTB domain containing 20		G	,,,,,,	4,4402	8.1+/-20.4	0,4,2199	151.0	130.0	137.0		1866,1647,1647,1647,1647,1647,1647	5.3	1.0	3	dbSNP_134	137	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ZBTB20	NM_001164342.1,NM_001164343.1,NM_001164344.1,NM_001164345.1,NM_001164346.1,NM_001164347.1,NM_015642.4	,,,,,,	0,4,6499	TT,TG,GG		0.0,0.0908,0.0308	,,,,,,	622/742,549/669,549/669,549/669,549/669,549/669,549/669	114058212	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114058212G>T	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1866C>A	3.37:g.114058212G>T						ZBTB20_ENST00000464560.1_Silent_p.I549I|ZBTB20_ENST00000393785.2_Silent_p.I549I|ZBTB20_ENST00000471418.1_Silent_p.I549I|ZBTB20_ENST00000357258.3_Silent_p.I549I|ZBTB20_ENST00000481632.1_Silent_p.I549I|ZBTB20_ENST00000474710.1_Silent_p.I622I	p.I549I	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	12	2468	-			622					Q63HP6|Q8N6R5|Q9Y410	Silent	SNP	ENST00000474710.1	37	c.1647C>A	CCDS54626.1																																																																																				0.527	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		23	119	1	0	2.39556e-15	1	3.23884e-15	23	119				
NLRP6	171389	broad.mit.edu	37	11	284296	284296	+	Silent	SNP	C	C	A	rs148506980	byFrequency	TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:284296C>A	ENST00000312165.5	+	6	2268	c.2268C>A	c.(2266-2268)ccC>ccA	p.P756P	NLRP6_ENST00000534750.1_Silent_p.P755P	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	756					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GGGCAGCCCCCGCACTGACGG	0.642																																						ENST00000534750.1																			0				breast(1)|skin(1)|upper_aerodigestive_tract(2)	4						c.(2263-2265)ccC>ccA		NLR family, pyrin domain containing 6							41.0	42.0	41.0					11																	284296		2203	4300	6503	SO:0001819	synonymous_variant	171389					cytoplasm	ATP binding	g.chr11:284296C>A	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.2268C>A	11.37:g.284296C>A						NLRP6_ENST00000312165.5_Silent_p.P756P	p.P755P	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	6	2470	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	756					A8K9F3|E9PJZ8	Silent	SNP	ENST00000312165.5	37	c.2265C>A	CCDS7693.1																																																																																				0.642	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		14	53	1	0	7.93312e-07	1	9.07314e-07	14	53				
BRINP1	1620	broad.mit.edu	37	9	122011312	122011312	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:122011312G>C	ENST00000265922.3	-	3	796	c.335C>G	c.(334-336)cCt>cGt	p.P112R	BRINP1_ENST00000373964.2_Missense_Mutation_p.P112R	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	112	MACPF.				cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											CTGAGTGGTAGGTCTCCTGCC	0.567																																						ENST00000265922.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(334-336)cCt>cGt									135.0	102.0	113.0					9																	122011312		2203	4300	6503	SO:0001583	missense	1620				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:122011312G>C	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.335C>G	9.37:g.122011312G>C	ENSP00000265922:p.Pro112Arg					DBC1_ENST00000373964.2_Missense_Mutation_p.P112R	p.P112R	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN			3	796	-			112			MACPF.		Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	c.335C>G	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.162304	0.78226	.	.	ENSG00000078725	ENST00000373969;ENST00000265922;ENST00000373964	D;D	0.83992	-1.79;-1.79	5.66	5.66	0.87406	Membrane attack complex component/perforin (MACPF) domain (2);	0.096899	0.64402	D	0.000001	D	0.89945	0.6862	L	0.55990	1.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.90018	0.4126	10	0.87932	D	0	-22.5982	20.1076	0.97898	0.0:0.0:1.0:0.0	.	112;112	O60477-2;O60477	.;DBC1_HUMAN	R	112	ENSP00000265922:P112R;ENSP00000363075:P112R	ENSP00000265922:P112R	P	-	2	0	DBC1	121051133	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.823000	0.97156	0.650000	0.86243	CCT		0.567	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		33	63	0	0	0	1	0	33	63				
PCDHB11	56125	broad.mit.edu	37	5	140579453	140579453	+	Missense_Mutation	SNP	G	G	A	rs201116406		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:140579453G>A	ENST00000354757.3	+	1	106	c.106G>A	c.(106-108)Gca>Aca	p.A36T	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	36	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTTTCTGTGGCAGAAGAAAT	0.542																																						ENST00000354757.3																			0				NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63						c.(106-108)Gca>Aca				G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	80.0	89.0	86.0		106	-0.4	0.0	5		86	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PCDHB11	NM_018931.2	58	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	36/798	140579453	2,13004	2203	4300	6503	SO:0001583	missense	56125				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140579453G>A	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.106G>A	5.37:g.140579453G>A	ENSP00000346802:p.Ala36Thr					PCDHB11_ENST00000536699.1_Intron	p.A36T	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	106	+			36			Cadherin 1.		B4DSF7|Q2M223	Missense_Mutation	SNP	ENST00000354757.3	37	c.106G>A	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	G	7.919	0.738136	0.15574	2.27E-4	1.16E-4	ENSG00000197479	ENST00000354757	T	0.38240	1.15	2.79	-0.413	0.12363	Cadherin, N-terminal (1);Cadherin (1);Cadherin-like (1);	.	.	.	.	T	0.29783	0.0744	L	0.52126	1.63	0.09310	N	1	B	0.10296	0.003	B	0.21546	0.035	T	0.32666	-0.9898	9	0.23302	T	0.38	.	8.9392	0.35720	0.0:0.4661:0.3845:0.1494	.	36	Q9Y5F2	PCDBB_HUMAN	T	36	ENSP00000346802:A36T	ENSP00000346802:A36T	A	+	1	0	PCDHB11	140559637	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	-1.510000	0.02262	-0.271000	0.09272	0.460000	0.39030	GCA		0.542	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		21	86	0	0	0	1	0	21	86				
WDFY3	23001	broad.mit.edu	37	4	85617191	85617191	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:85617191T>C	ENST00000295888.4	-	58	9240	c.8833A>G	c.(8833-8835)Atc>Gtc	p.I2945V	WDFY3_ENST00000322366.6_Missense_Mutation_p.I2928V	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2945	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.|Interaction with SQSTM1.|Sufficient for translocalization to p62 bodies/ALIS.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GGGTCATTGATGTTGTAGATA	0.393																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(8782-8784)Atc>Gtc		WD repeat and FYVE domain containing 3							103.0	101.0	101.0					4																	85617191		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85617191T>C	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.8833A>G	4.37:g.85617191T>C	ENSP00000295888:p.Ile2945Val					WDFY3_ENST00000295888.4_Missense_Mutation_p.I2945V	p.I2928V			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	57	9189	-		Hepatocellular(203;0.114)	2945			BEACH.		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.8782A>G	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.409932	0.83340	.	.	ENSG00000163625	ENST00000322366;ENST00000295888;ENST00000514711	T;T;T	0.65732	-0.17;-0.17;-0.17	5.44	5.44	0.79542	BEACH domain (4);	0.000000	0.85682	D	0.000000	T	0.77916	0.4202	M	0.78223	2.4	0.80722	D	1	D	0.56035	0.974	D	0.68039	0.955	T	0.77104	-0.2711	10	0.32370	T	0.25	.	15.5173	0.75833	0.0:0.0:0.0:1.0	.	2945	Q8IZQ1	WDFY3_HUMAN	V	2928;2945;548	ENSP00000318466:I2928V;ENSP00000295888:I2945V;ENSP00000424987:I548V	ENSP00000295888:I2945V	I	-	1	0	WDFY3	85836215	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.262000	0.72514	2.062000	0.61559	0.482000	0.46254	ATC		0.393	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		27	91	0	0	0	1	0	27	91				
SIM2	6493	broad.mit.edu	37	21	38115850	38115850	+	Silent	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr21:38115850C>T	ENST00000290399.6	+	9	1774	c.1161C>T	c.(1159-1161)ccC>ccT	p.P387P	SIM2_ENST00000430056.3_Silent_p.P387P	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	387	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|embryonic pattern specification (GO:0009880)|lung development (GO:0030324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						ACCCTTACCCCCCACAGGTAA	0.493																																						ENST00000290399.6																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						c.(1159-1161)ccC>ccT		single-minded family bHLH transcription factor 2							163.0	155.0	158.0					21																	38115850		2203	4300	6503	SO:0001819	synonymous_variant	6493				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:38115850C>T		CCDS13646.1	21q22.2	2013-10-17	2013-10-17		ENSG00000159263	ENSG00000159263		"""Basic helix-loop-helix proteins"""	10883	protein-coding gene	gene with protein product	"""transcription factor SIM2"""	600892	"""single-minded (Drosophila) homolog 2"", ""single-minded homolog 2 (Drosophila)"""	SIM		7485157	Standard	NM_009586		Approved	MGC119447, bHLHe15	uc002yvr.2	Q14190	OTTHUMG00000086637	ENST00000290399.6:c.1161C>T	21.37:g.38115850C>T						SIM2_ENST00000430056.3_Silent_p.P387P	p.P387P	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN			9	1774	+			387			Single-minded C-terminal.		O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Silent	SNP	ENST00000290399.6	37	c.1161C>T	CCDS13646.1	.	.	.	.	.	.	.	.	.	.	C	1.648	-0.514692	0.04200	.	.	ENSG00000159263	ENST00000431229	T	0.38401	1.14	4.49	-3.85	0.04243	.	16.046000	0.00166	N	0.000000	T	0.31071	0.0785	.	.	.	0.37080	D	0.898958	.	.	.	.	.	.	T	0.33929	-0.9849	7	0.41790	T	0.15	.	3.4297	0.07424	0.2978:0.257:0.3564:0.0888	.	.	.	.	S	325	ENSP00000392003:P325S	ENSP00000392003:P325S	P	+	1	0	SIM2	37037720	0.002000	0.14202	0.279000	0.24732	0.438000	0.31896	-0.421000	0.07053	-0.301000	0.08882	-0.502000	0.04539	CCC		0.493	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194692.1	NM_009586		38	99	0	0	0	1	0	38	99				
TSNARE1	203062	broad.mit.edu	37	8	143425643	143425643	+	Silent	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:143425643G>A	ENST00000307180.3	-	4	546	c.429C>T	c.(427-429)caC>caT	p.H143H	TSNARE1_ENST00000519651.1_Intron|TSNARE1_ENST00000524325.1_Silent_p.H143H|TSNARE1_ENST00000520166.1_Silent_p.H143H	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	143					intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GCAGCTGGTGGTGCTTGCTCA	0.662																																						ENST00000524325.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20						c.(427-429)caC>caT		t-SNARE domain containing 1							42.0	44.0	43.0					8																	143425643		2203	4300	6503	SO:0001819	synonymous_variant	203062				vesicle-mediated transport	integral to membrane		g.chr8:143425643G>A			8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000307180.3:c.429C>T	8.37:g.143425643G>A						TSNARE1_ENST00000519651.1_Intron|TSNARE1_ENST00000307180.3_Silent_p.H143H|TSNARE1_ENST00000520166.1_Silent_p.H143H	p.H143H			Q96NA8	TSNA1_HUMAN			4	604	-	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		143					B7ZLB0|Q14D03	Silent	SNP	ENST00000307180.3	37	c.429C>T	CCDS6384.1																																																																																				0.662	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_145003		16	62	0	0	0	1	0	16	62				
KCNMB1	3779	broad.mit.edu	37	5	169805870	169805870	+	Silent	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:169805870T>A	ENST00000274629.4	-	4	856	c.414A>T	c.(412-414)gcA>gcT	p.A138A	KCNIP1_ENST00000518527.1_Intron|KCNIP1_ENST00000377360.4_Intron	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	138					blood coagulation (GO:0007596)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to calcium ion (GO:0051592)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)	Miconazole(DB01110)|Procaine(DB00721)	TCCCCCGAGGTGCGGAGAAGC	0.627																																						ENST00000274629.4																			0				endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11						c.(412-414)gcA>gcT		potassium large conductance calcium-activated channel, subfamily M, beta member 1							88.0	84.0	86.0					5																	169805870		2203	4300	6503	SO:0001819	synonymous_variant	3779				platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity	g.chr5:169805870T>A	AF035046	CCDS4373.1	5q34	2012-02-23			ENSG00000145936	ENSG00000145936		"""Potassium channels"""	6285	protein-coding gene	gene with protein product	"""BK channel beta subunit"""	603951				8799178, 9888999	Standard	NM_004137		Approved	hslo-beta	uc003maq.2	Q16558	OTTHUMG00000130439	ENST00000274629.4:c.414A>T	5.37:g.169805870T>A						KCNIP1_ENST00000518527.1_Intron|KCNIP1_ENST00000377360.4_Intron	p.A138A	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)	4	856	-	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	138					O00707|O00708|P78475|Q53YR0|Q8TAX3|Q93005	Silent	SNP	ENST00000274629.4	37	c.414A>T	CCDS4373.1																																																																																				0.627	KCNMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252830.3			15	59	0	0	0	1	0	15	59				
WLS	79971	broad.mit.edu	37	1	68564316	68564316	+	Silent	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:68564316C>T	ENST00000354777.2	-	12	1876	c.1631G>A	c.(1630-1632)tGa>tAa	p.*544*	GNG12-AS1_ENST00000420587.1_RNA|WLS_ENST00000540432.1_Silent_p.*546*|GNG12-AS1_ENST00000413628.1_RNA	NM_001002292.3	NP_001002292.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	0					anterior/posterior axis specification (GO:0009948)|mesoderm formation (GO:0001707)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						cttgttgactcaaataccaga	0.388																																						ENST00000540432.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						c.(1636-1638)tGa>tAa		wntless Wnt ligand secretion mediator							128.0	117.0	120.0					1																	68564316		2203	4300	6503	SO:0001819	synonymous_variant	79971				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity	g.chr1:68564316C>T	BX538320	CCDS642.1, CCDS30750.1, CCDS53331.1	1p31.2	2013-10-03	2013-10-03	2010-03-02	ENSG00000116729	ENSG00000116729			30238	protein-coding gene	gene with protein product	"""wntless homolog"""	611514	"""chromosome 1 open reading frame 139"", ""G protein-coupled receptor 177"", ""wntless homolog (Drosophila)"""	C1orf139, GPR177		12761501	Standard	NM_024911		Approved	FLJ23091, MRP, wls, EVI, mig-14	uc001dee.3	Q5T9L3	OTTHUMG00000009153	ENST00000354777.2:c.1631G>A	1.37:g.68564316C>T						GNG12-AS1_ENST00000420587.1_RNA|WLS_ENST00000354777.2_Silent_p.*544*|GNG12-AS1_ENST00000413628.1_RNA	p.*546*			Q5T9L3	WLS_HUMAN			12	1920	-			0					B2RNT2|Q5JRS7|Q7Z2Z9|Q8NC43	Silent	SNP	ENST00000354777.2	37	c.1637G>A	CCDS30750.1																																																																																				0.388	WLS-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025370.1	NM_024911		27	95	0	0	0	1	0	27	95				
KCNK6	9424	broad.mit.edu	37	19	38817296	38817296	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:38817296T>A	ENST00000263372.3	+	2	493	c.386T>A	c.(385-387)cTg>cAg	p.L129Q		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	129					negative regulation of systemic arterial blood pressure (GO:0003085)|potassium ion transport (GO:0006813)|regulation of resting membrane potential (GO:0060075)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	TTTGCGCTCCTGGGCGTGCCG	0.597																																						ENST00000263372.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17						c.(385-387)cTg>cAg		potassium channel, subfamily K, member 6	Ibutilide(DB00308)|Quinidine(DB00908)						81.0	76.0	78.0					19																	38817296		2203	4300	6503	SO:0001583	missense	9424					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr19:38817296T>A	AF117708	CCDS12513.1	19q13.1	2012-03-07				ENSG00000099337		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6281	protein-coding gene	gene with protein product		603939				10075682, 10393428, 16382106	Standard	NM_004823		Approved	K2p6.1, TWIK-2	uc002oic.3	Q9Y257		ENST00000263372.3:c.386T>A	19.37:g.38817296T>A	ENSP00000263372:p.Leu129Gln						p.L129Q	NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		2	493	+	all_cancers(60;5.83e-07)		129					Q9HB47	Missense_Mutation	SNP	ENST00000263372.3	37	c.386T>A	CCDS12513.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.171608	0.78452	.	.	ENSG00000099337	ENST00000263372	T	0.34859	1.34	5.26	5.26	0.73747	Ion transport 2 (1);	0.161017	0.38605	N	0.001622	T	0.67552	0.2905	M	0.92122	3.275	0.49130	D	0.999752	D	0.89917	1.0	D	0.79108	0.992	T	0.76263	-0.3023	10	0.87932	D	0	.	13.1366	0.59413	0.0:0.0:0.0:1.0	.	129	Q9Y257	KCNK6_HUMAN	Q	129	ENSP00000263372:L129Q	ENSP00000263372:L129Q	L	+	2	0	KCNK6	43509136	1.000000	0.71417	1.000000	0.80357	0.573000	0.36030	7.939000	0.87685	1.999000	0.58509	0.459000	0.35465	CTG		0.597	KCNK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460524.1	NM_004823		27	121	0	0	0	1	0	27	121				
AQP10	89872	broad.mit.edu	37	1	154296125	154296125	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:154296125G>A	ENST00000324978.3	+	5	590	c.550G>A	c.(550-552)Gga>Aga	p.G184R	ATP8B2_ENST00000368487.3_5'Flank|AQP10_ENST00000355197.4_3'UTR|AQP10_ENST00000484864.1_Missense_Mutation_p.G184R	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	184					response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACGGAACAAGGGAGTCCCTGC	0.622																																						ENST00000484864.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23						c.(550-552)Gga>Aga		aquaporin 10							139.0	142.0	141.0					1																	154296125		2203	4300	6503	SO:0001583	missense	89872				response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity	g.chr1:154296125G>A	AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"""Ion channels / Aquaporins"""	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980	ENST00000324978.3:c.550G>A	1.37:g.154296125G>A	ENSP00000318355:p.Gly184Arg					AQP10_ENST00000355197.4_3'UTR|AQP10_ENST00000324978.3_Missense_Mutation_p.G184R	p.G184R			Q96PS8	AQP10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		5	586	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		184					Q5VYD3|Q5VYD4|Q8NG70	Missense_Mutation	SNP	ENST00000324978.3	37	c.550G>A	CCDS1065.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.597574	0.46318	.	.	ENSG00000143595	ENST00000324978;ENST00000484864	T;T	0.11712	2.75;2.75	4.9	3.96	0.45880	Aquaporin-like (2);	0.273281	0.34507	N	0.003903	T	0.04092	0.0114	L	0.46670	1.46	0.31507	N	0.664046	B;B	0.20550	0.029;0.046	B;B	0.22880	0.02;0.042	T	0.30534	-0.9975	10	0.23891	T	0.37	.	12.7432	0.57266	0.0:0.4465:0.5535:0.0	.	184;184	Q96PS8-2;Q96PS8	.;AQP10_HUMAN	R	184	ENSP00000318355:G184R;ENSP00000420341:G184R	ENSP00000318355:G184R	G	+	1	0	AQP10	152562749	0.005000	0.15991	0.986000	0.45419	0.981000	0.71138	1.547000	0.36190	1.258000	0.44101	0.555000	0.69702	GGA		0.622	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087661.1	NM_080429		90	182	0	0	0	1	0	90	182				
CCDC39	339829	broad.mit.edu	37	3	180372658	180372658	+	Silent	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:180372658C>A	ENST00000442201.2	-	7	941	c.822G>T	c.(820-822)ggG>ggT	p.G274G	CCDC39_ENST00000273654.4_Silent_p.G358G	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	274					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CTGTGTTATTCCCAATCTCAC	0.333																																						ENST00000273654.4																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45						c.(1072-1074)ggG>ggT		coiled-coil domain containing 39							156.0	135.0	142.0					3																	180372658		1807	4074	5881	SO:0001819	synonymous_variant	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180372658C>A	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.822G>T	3.37:g.180372658C>A						CCDC39_ENST00000442201.2_Silent_p.G274G	p.G358G			Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		13	1693	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		274					B4E2H1	Silent	SNP	ENST00000442201.2	37	c.1074G>T	CCDS46964.1																																																																																				0.333	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		30	33	1	0	9.80776e-20	1	1.41261e-19	30	33				
FAM47A	158724	broad.mit.edu	37	X	34148158	34148158	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chrX:34148158C>A	ENST00000346193.3	-	1	2289	c.2238G>T	c.(2236-2238)aaG>aaT	p.K746N		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	746								p.K746N(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TTTCATAGCCCTTGCTTAGAA	0.413																																						ENST00000346193.3																			1	Substitution - Missense(1)	p.K746N(1)	lung(1)	NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(2236-2238)aaG>aaT		family with sequence similarity 47, member A							119.0	116.0	117.0					X																	34148158		2202	4297	6499	SO:0001583	missense	158724							g.chrX:34148158C>A	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.2238G>T	X.37:g.34148158C>A	ENSP00000345029:p.Lys746Asn						p.K746N	NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN			1	2289	-			746					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.2238G>T	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.208852	0.39003	.	.	ENSG00000185448	ENST00000346193	T	0.23950	1.88	1.17	0.266	0.15617	.	.	.	.	.	T	0.45074	0.1324	M	0.81497	2.545	0.09310	N	1	D	0.76494	0.999	D	0.80764	0.994	T	0.25502	-1.0130	9	0.87932	D	0	.	3.2644	0.06860	0.0:0.6929:0.0:0.3071	.	746	Q5JRC9	FA47A_HUMAN	N	746	ENSP00000345029:K746N	ENSP00000345029:K746N	K	-	3	2	FAM47A	34058079	0.600000	0.26899	0.265000	0.24526	0.444000	0.32077	-0.438000	0.06905	0.029000	0.15352	0.544000	0.68410	AAG		0.413	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		36	67	1	0	1.06647e-15	1	1.4495e-15	36	67				
C1QTNF2	114898	broad.mit.edu	37	5	159781983	159781983	+	Silent	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:159781983G>A	ENST00000393975.3	-	2	174	c.171C>T	c.(169-171)ccC>ccT	p.P57P		NM_031908.4	NP_114114.2	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	12	Collagen-like.				activation of MAPK activity (GO:0000187)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)		p.P57P(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGCAGCACAGGGGAGGGCAC	0.662																																						ENST00000393975.3																			1	Substitution - coding silent(1)	p.P57P(1)	large_intestine(1)	breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13						c.(169-171)ccC>ccT		C1q and tumor necrosis factor related protein 2							38.0	37.0	37.0					5																	159781983		2201	4300	6501	SO:0001819	synonymous_variant	114898					collagen		g.chr5:159781983G>A	AF329836	CCDS4351.2	5q33.3	2008-05-15			ENSG00000145861	ENSG00000145861			14325	protein-coding gene	gene with protein product							Standard	XM_005265815		Approved	CTRP2	uc003lyd.3	Q9BXJ5	OTTHUMG00000130323	ENST00000393975.3:c.171C>T	5.37:g.159781983G>A							p.P57P	NM_031908.4	NP_114114.2	Q9BXJ5	C1QT2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	174	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	12			Collagen-like.			Silent	SNP	ENST00000393975.3	37	c.171C>T	CCDS4351.2																																																																																				0.662	C1QTNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252672.2			3	9	0	0	0	1	0	3	9				
PABPC3	5042	broad.mit.edu	37	13	25670484	25670484	+	Missense_Mutation	SNP	G	G	T	rs200924407	byFrequency	TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr13:25670484G>T	ENST00000281589.3	+	1	185	c.148G>T	c.(148-150)Ggc>Tgc	p.G50C		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	50	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GATCACCAGCGGCTCCTCCAA	0.567																																						ENST00000281589.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47						c.(148-150)Ggc>Tgc		poly(A) binding protein, cytoplasmic 3							84.0	80.0	82.0					13																	25670484		2203	4300	6503	SO:0001583	missense	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25670484G>T	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.148G>T	13.37:g.25670484G>T	ENSP00000281589:p.Gly50Cys						p.G50C	NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	185	+		Lung SC(185;0.0225)|Breast(139;0.0602)	50			RRM 1.		Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	c.148G>T	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	G	8.144	0.785877	0.16189	.	.	ENSG00000151846	ENST00000281589	T	0.16324	2.35	0.546	-0.503	0.12000	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.163795	0.26863	U	0.022109	T	0.11750	0.0286	L	0.39397	1.21	0.23953	N	0.99636	B	0.06786	0.001	B	0.04013	0.001	T	0.17653	-1.0362	10	0.66056	D	0.02	.	6.0904	0.19991	0.0:0.6747:0.3253:0.0	.	50	Q9H361	PABP3_HUMAN	C	50	ENSP00000281589:G50C	ENSP00000281589:G50C	G	+	1	0	PABPC3	24568484	0.679000	0.27596	0.125000	0.21846	0.029000	0.11900	0.820000	0.27323	-0.268000	0.09312	-0.714000	0.03626	GGC		0.567	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		16	59	1	0	2.31682e-05	1	2.56245e-05	16	59				
FOLR4	390243	broad.mit.edu	37	11	94040346	94040346	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:94040346C>A	ENST00000440961.2	+	3	387	c.343C>A	c.(343-345)Cag>Aag	p.Q115K		NM_001199206.1	NP_001186135.1	A6ND01	JUNO_HUMAN	folate receptor 4, delta (putative)	122					cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						CCCGAGTGGGCAGGGAGAGCG	0.517																																						ENST00000440961.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(343-345)Cag>Aag		folate receptor 4, delta (putative)							74.0	79.0	78.0					11																	94040346		2172	4261	6433	SO:0001583	missense	390243					extracellular region	folic acid binding|receptor activity	g.chr11:94040346C>A			11q14	2014-07-23	2012-12-07		ENSG00000183560	ENSG00000183560			32565	protein-coding gene	gene with protein product		615737	"""folate receptor 4 (delta) homolog (mouse)"""			11111049, 24739963	Standard	NM_001199206		Approved	Folbp3, JUNO	uc021qou.1	A6ND01		ENST00000440961.2:c.343C>A	11.37:g.94040346C>A	ENSP00000416935:p.Gln115Lys						p.Q115K	NM_001199206.1	NP_001186135.1	A6ND01	FOLR4_HUMAN			3	387	+			122						Missense_Mutation	SNP	ENST00000440961.2	37	c.343C>A		.	.	.	.	.	.	.	.	.	.	C	11.03	1.520307	0.27211	.	.	ENSG00000183560	ENST00000440961	T	0.75938	-0.98	4.35	3.36	0.38483	.	.	.	.	.	T	0.62588	0.2440	L	0.33485	1.01	0.19575	N	0.999969	B	0.19331	0.035	B	0.25614	0.062	T	0.52328	-0.8590	9	0.48119	T	0.1	.	7.0139	0.24877	0.1932:0.6198:0.187:0.0	.	115	A6ND01-2	.	K	115	ENSP00000416935:Q115K	ENSP00000416935:Q115K	Q	+	1	0	FOLR4	93679994	0.902000	0.30710	0.037000	0.18230	0.044000	0.14063	1.415000	0.34748	2.416000	0.81992	0.491000	0.48974	CAG		0.517	FOLR4-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000396420.1	NM_001080486		9	17	1	0	1.58986e-06	1	1.80496e-06	9	17				
TP63	8626	broad.mit.edu	37	3	189607208	189607208	+	Silent	SNP	C	C	T	rs141847552	byFrequency	TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:189607208C>T	ENST00000264731.3	+	12	1676	c.1587C>T	c.(1585-1587)ctC>ctT	p.L529L	TP63_ENST00000449992.1_Silent_p.L350L|TP63_ENST00000354600.5_Silent_p.L435L|TP63_ENST00000392460.3_Silent_p.L529L|TP63_ENST00000392463.2_Silent_p.L435L|TP63_ENST00000456148.1_Silent_p.L431L|TP63_ENST00000320472.5_Intron|TP63_ENST00000440651.2_Silent_p.L525L|TP63_ENST00000392461.3_Intron|TP63_ENST00000382063.4_Silent_p.L444L	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	529					apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CTCCCCCACTCTCCATGCCAT	0.612										HNSCC(45;0.13)			C|||	6	0.00119808	0.0	0.0	5008	,	,		16128	0.0		0.005	False		,,,				2504	0.001					ENST00000264731.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61						c.(1585-1587)ctC>ctT		tumor protein p63		C	,,,	3,4403	6.2+/-15.9	0,3,2200	146.0	131.0	136.0		1587,1305,1305,1587	2.7	1.0	3	dbSNP_134	136	17,8583	12.6+/-44.7	0,17,4283	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TP63	NM_001114978.1,NM_001114980.1,NM_001114981.1,NM_003722.4	,,,	0,20,6483	TT,TC,CC		0.1977,0.0681,0.1538	,,,	529/556,435/587,435/462,529/681	189607208	20,12986	2203	4300	6503	SO:0001819	synonymous_variant	8626				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189607208C>T	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1587C>T	3.37:g.189607208C>T		HNSCC(45;0.13)				TP63_ENST00000320472.5_Intron|TP63_ENST00000392460.3_Silent_p.L529L|TP63_ENST00000354600.5_Silent_p.L435L|TP63_ENST00000392461.3_Intron|TP63_ENST00000392463.2_Silent_p.L435L|TP63_ENST00000440651.2_Silent_p.L525L|TP63_ENST00000382063.4_Silent_p.L444L|TP63_ENST00000456148.1_Silent_p.L431L|TP63_ENST00000449992.1_Silent_p.L350L	p.L529L	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	12	1676	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		529					O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Silent	SNP	ENST00000264731.3	37	c.1587C>T	CCDS3293.1																																																																																				0.612	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		5	106	0	0	0	1	0	5	106				
LCE1C	353133	broad.mit.edu	37	1	152777710	152777710	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:152777710C>T	ENST00000607093.1	-	1	244	c.245G>A	c.(244-246)cGc>cAc	p.R82H	LCE1C_ENST00000368768.1_Missense_Mutation_p.R82H			Q5T751	LCE1C_HUMAN	late cornified envelope 1C	82	Gly-rich.				keratinization (GO:0031424)					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGACCTACGGCGCCTGTGGTG	0.701																																						ENST00000368768.1																			0				NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9						c.(244-246)cGc>cAc		late cornified envelope 1C							29.0	36.0	33.0					1																	152777710		2202	4289	6491	SO:0001583	missense	353133				keratinization			g.chr1:152777710C>T		CCDS1026.1	1q21.3	2008-02-05			ENSG00000197084	ENSG00000197084		"""Late cornified envelopes"""	29464	protein-coding gene	gene with protein product		612605				11698679	Standard	NM_001276331		Approved	LEP3	uc001fap.1	Q5T751	OTTHUMG00000012445	ENST00000607093.1:c.245G>A	1.37:g.152777710C>T	ENSP00000475270:p.Arg82His					LCE1C_ENST00000607093.1_Missense_Mutation_p.R82H	p.R82H	NM_178351.3	NP_848128.1	Q5T751	LCE1C_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	295	-	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		82			Gly-rich.			Missense_Mutation	SNP	ENST00000607093.1	37	c.245G>A	CCDS1026.1	.	.	.	.	.	.	.	.	.	.	C	0.045	-1.269894	0.01421	.	.	ENSG00000197084	ENST00000368768	T	0.03772	3.81	2.6	-5.19	0.02832	.	0.764515	0.10765	N	0.636726	T	0.01029	0.0034	L	0.33189	0.99	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44360	-0.9333	10	0.87932	D	0	.	5.8287	0.18568	0.0:0.1772:0.3785:0.4442	.	82	Q5T751	LCE1C_HUMAN	H	82	ENSP00000357757:R82H	ENSP00000357757:R82H	R	-	2	0	LCE1C	151044334	0.000000	0.05858	0.021000	0.16686	0.031000	0.12232	-1.021000	0.03615	-1.919000	0.01071	-0.751000	0.03497	CGC		0.701	LCE1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034658.2	NM_178351		20	106	0	0	0	1	0	20	106				
MMRN2	79812	broad.mit.edu	37	10	88705126	88705126	+	Splice_Site	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:88705126C>A	ENST00000372027.5	-	3	722		c.e3+1		MMRN2_ENST00000488950.1_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2						angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						GGGAGCCCTACCGTGGTGCTC	0.607																																						ENST00000372027.4																			0				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						c.e3+1		multimerin 2							16.0	16.0	16.0					10																	88705126		2200	4300	6500	SO:0001630	splice_region_variant	79812					extracellular space		g.chr10:88705126C>A	AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"""EMI domain containing"""	19888	protein-coding gene	gene with protein product		608925	"""elastin microfibril interfacer 3"""	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.400+1G>T	10.37:g.88705126C>A								NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN			3	474	-								Q504V7|Q6P2N2	Splice_Site	SNP	ENST00000372027.5	37		CCDS7379.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.400739	0.42613	.	.	ENSG00000173269	ENST00000372027;ENST00000443699	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5086	0.90907	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MMRN2	88695106	1.000000	0.71417	0.979000	0.43373	0.193000	0.23685	5.438000	0.66550	2.802000	0.96397	0.561000	0.74099	.		0.607	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049179.2	NM_024756	Intron	4	19	1	0	0.00909568	1	0.00931282	4	19				
FAT3	120114	broad.mit.edu	37	11	92498056	92498056	+	Silent	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:92498056G>A	ENST00000298047.6	+	5	4013	c.3996G>A	c.(3994-3996)gtG>gtA	p.V1332V	FAT3_ENST00000409404.2_Silent_p.V1332V|FAT3_ENST00000525166.1_Silent_p.V1182V|RP11-203F8.1_ENST00000529884.1_RNA			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1332	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TAAAGGCAGTGGACAATGGGC	0.502										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(3994-3996)gtG>gtA		FAT atypical cadherin 3							65.0	65.0	65.0					11																	92498056		1915	4117	6032	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92498056G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.3996G>A	11.37:g.92498056G>A		TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Silent_p.V1182V|RP11-203F8.1_ENST00000529884.1_RNA|FAT3_ENST00000409404.2_Silent_p.V1332V	p.V1332V			Q8TDW7	FAT3_HUMAN			5	4013	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1332			Cadherin 12.		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.3996G>A																																																																																					0.502	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		10	44	0	0	0	1	0	10	44				
ANKRD20A5P	440482	broad.mit.edu	37	18	14184251	14184251	+	RNA	SNP	G	G	C	rs78865458		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr18:14184251G>C	ENST00000581935.1	+	0	940							A0PJZ0	A20A5_HUMAN	ankyrin repeat domain 20 family, member A5, pseudogene											lung(3)	3						TTTAAATATTGATACTTTTAA	0.264																																						ENST00000581935.1																			0				lung(3)	3																																														440482							g.chr18:14184251G>C	BC022023		18p11.21	2011-06-01	2011-06-01	2011-06-01	ENSG00000186481	ENSG00000186481			33833	pseudogene	pseudogene			"""ankyrin repeat domain 20 family, member A5"""	ANKRD20A5			Standard	NR_040113		Approved	MGC26718	uc010xag.2	A0PJZ0	OTTHUMG00000157172		18.37:g.14184251G>C														0	940	+								Q4G1B6	RNA	SNP	ENST00000581935.1	37																																																																																						0.264	ANKRD20A5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000442833.1			3	29	0	0	0	1	0	3	29				
TGM1	7051	broad.mit.edu	37	14	24723870	24723870	+	Splice_Site	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr14:24723870C>G	ENST00000206765.6	-	13	2211	c.2088G>C	c.(2086-2088)acG>acC	p.T696T	TGM1_ENST00000544573.1_Splice_Site_p.T254T	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	696					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CTGCATTCACCGTGAGGGAGA	0.627																																						ENST00000206765.6																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24						c.e13+1		transglutaminase 1	L-Glutamine(DB00130)						58.0	60.0	59.0					14																	24723870		2203	4300	6503	SO:0001630	splice_region_variant	7051				cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr14:24723870C>G	D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"""Transglutaminases"""	11777	protein-coding gene	gene with protein product	"""K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"""	190195	"""transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"""	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.2088+1G>C	14.37:g.24723870C>G						TGM1_ENST00000544573.1_Splice_Site_p.T254_splice	p.T696_splice	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN		GBM - Glioblastoma multiforme(265;0.0186)	13	2211	-			696					B4DWR7|Q197M4	Splice_Site	SNP	ENST00000206765.6	37	c.2088_splice	CCDS9622.1																																																																																				0.627	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	NM_000359	Silent	15	69	0	0	0	1	0	15	69				
UNC79	57578	broad.mit.edu	37	14	93995643	93995643	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr14:93995643A>G	ENST00000393151.2	+	10	1064	c.1064A>G	c.(1063-1065)gAg>gGg	p.E355G	UNC79_ENST00000553484.1_Missense_Mutation_p.E355G|UNC79_ENST00000555664.1_Missense_Mutation_p.E355G|UNC79_ENST00000256339.4_Missense_Mutation_p.E178G			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	355					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GACCACAGTGAGTGGCTGATT	0.353																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(1063-1065)gAg>gGg		unc-79 homolog (C. elegans)							129.0	117.0	121.0					14																	93995643		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:93995643A>G	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.1064A>G	14.37:g.93995643A>G	ENSP00000376858:p.Glu355Gly					UNC79_ENST00000555664.1_Missense_Mutation_p.E355G|UNC79_ENST00000393151.2_Missense_Mutation_p.E355G|UNC79_ENST00000256339.4_Missense_Mutation_p.E178G	p.E355G			Q9P2D8	UNC79_HUMAN			10	1218	+			355					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.1064A>G		.	.	.	.	.	.	.	.	.	.	A	23.2	4.391236	0.82902	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.20200	2.1;2.1;2.09;2.1	5.65	5.65	0.86999	.	0.065077	0.56097	N	0.000022	T	0.35770	0.0943	L	0.34521	1.04	0.48975	D	0.999735	D;D	0.61080	0.989;0.989	D;D	0.72982	0.979;0.979	T	0.04737	-1.0930	10	0.42905	T	0.14	-21.3124	15.8787	0.79185	1.0:0.0:0.0:0.0	.	355;355	C9JQL1;Q9P2D8	.;UNC79_HUMAN	G	178;355;355;355;355	ENSP00000256339:E178G;ENSP00000450868:E355G;ENSP00000451360:E355G;ENSP00000376858:E355G	ENSP00000256339:E178G	E	+	2	0	KIAA1409	93065396	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.330000	0.90019	2.139000	0.66308	0.533000	0.62120	GAG		0.353	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		11	63	0	0	0	1	0	11	63				
PSG1	5669	broad.mit.edu	37	19	43372220	43372220	+	Intron	SNP	A	A	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:43372220A>T	ENST00000436291.2	-	5	1360				PSG1_ENST00000244296.2_Missense_Mutation_p.F426I|PSG1_ENST00000595124.1_Intron|PSG1_ENST00000403380.3_Intron|PSG1_ENST00000595356.1_Intron|PSG1_ENST00000312439.6_Intron	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1						female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				TCCACCTAAAACCCTATTGCC	0.478																																						ENST00000244296.2																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						c.(1276-1278)Ttt>Att		pregnancy specific beta-1-glycoprotein 1							184.0	185.0	184.0					19																	43372220		2201	4299	6500	SO:0001627	intron_variant	5669							g.chr19:43372220A>T		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.1243+32T>A	19.37:g.43372220A>T						PSG1_ENST00000403380.3_Intron|PSG1_ENST00000595356.1_Intron|PSG1_ENST00000595124.1_Intron|PSG1_ENST00000312439.6_Intron|PSG1_ENST00000436291.2_Intron	p.F426I	NM_006905.2	NP_008836.2					5	1413	-		Prostate(69;0.00682)						O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Missense_Mutation	SNP	ENST00000436291.2	37	c.1276T>A	CCDS54275.1	.	.	.	.	.	.	.	.	.	.	N	8.940	0.965591	0.18583	.	.	ENSG00000231924	ENST00000244296	T	0.36699	1.24	1.59	-1.71	0.08133	.	.	.	.	.	T	0.15912	0.0383	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18429	-1.0337	9	0.45353	T	0.12	.	4.8337	0.13454	0.4444:0.0:0.5556:0.0	.	426	P11464-4	.	I	426	ENSP00000244296:F426I	ENSP00000244296:F426I	F	-	1	0	PSG1	48064060	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-0.082000	0.11304	-0.311000	0.08754	0.155000	0.16302	TTT		0.478	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1			92	318	0	0	0	1	0	92	318				
PARD3	56288	broad.mit.edu	37	10	34620136	34620136	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:34620136T>G	ENST00000374789.3	-	19	3076	c.2751A>C	c.(2749-2751)agA>agC	p.R917S	PARD3_ENST00000545260.1_Missense_Mutation_p.R827S|PARD3_ENST00000374773.1_Missense_Mutation_p.R884S|PARD3_ENST00000340077.5_Missense_Mutation_p.R914S|PARD3_ENST00000350537.4_Missense_Mutation_p.R871S|PARD3_ENST00000346874.4_Missense_Mutation_p.R917S|PARD3_ENST00000374776.1_Missense_Mutation_p.R871S|PARD3_ENST00000374788.3_Missense_Mutation_p.R914S|PARD3_ENST00000466092.1_5'UTR|PARD3_ENST00000374794.3_Missense_Mutation_p.R842S|PARD3_ENST00000545693.1_Missense_Mutation_p.R901S|PARD3_ENST00000544292.1_Missense_Mutation_p.R630S|PARD3_ENST00000374790.3_Missense_Mutation_p.R857S	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	917	Interacts with PRKCI and PRKCZ. {ECO:0000250}.				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)				ATCCCCTGCCTCTGATTATCC	0.498																																						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.(2749-2751)agA>agC		par-3 family cell polarity regulator							120.0	106.0	111.0					10																	34620136		2203	4300	6503	SO:0001583	missense	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.chr10:34620136T>G	AF252293	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		ENSG00000148498	ENSG00000148498			16051	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"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.2751A>C	10.37:g.34620136T>G	ENSP00000363921:p.Arg917Ser					PARD3_ENST00000374788.3_Missense_Mutation_p.R914S|PARD3_ENST00000374794.3_Missense_Mutation_p.R842S|PARD3_ENST00000466092.1_5'UTR|PARD3_ENST00000340077.5_Missense_Mutation_p.R914S|PARD3_ENST00000350537.4_Missense_Mutation_p.R871S|PARD3_ENST00000374790.3_Missense_Mutation_p.R857S|PARD3_ENST00000544292.1_Missense_Mutation_p.R630S|PARD3_ENST00000374776.1_Missense_Mutation_p.R871S|PARD3_ENST00000545693.1_Missense_Mutation_p.R901S|PARD3_ENST00000374773.1_Missense_Mutation_p.R884S|PARD3_ENST00000545260.1_Missense_Mutation_p.R827S|PARD3_ENST00000346874.4_Missense_Mutation_p.R917S	p.R917S	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN			19	3076	-		Breast(68;0.0707)	917			Interacts with PRKCZ (By similarity).		F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	c.2751A>C	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.251380	0.80135	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773;ENST00000544292	T;T;T;T;T;T;T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49	5.87	0.667	0.17907	.	0.000000	0.85682	D	0.000000	T	0.50684	0.1630	M	0.83118	2.625	0.58432	D	0.999998	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.995;0.995;1.0;0.995;0.999;1.0;1.0;1.0;0.999;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;0.991;0.996;0.999;0.996;0.999;0.999;0.999;0.989;0.998;0.998;0.999;1.0;0.999;1.0	T	0.44772	-0.9306	10	0.87932	D	0	.	5.5492	0.17081	0.1146:0.2594:0.0:0.6259	.	842;827;871;871;901;917;914;917;857;901;884;914;871;883;630	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q6IQ47;Q5VWU8;Q8TEW0-8;Q8TEW0-9;Q8TEW0-10;F5GZI3	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.;.;.;.;.	S	901;827;917;914;917;842;871;857;871;914;884;630	ENSP00000443147:R901S;ENSP00000440857:R827S;ENSP00000363921:R917S;ENSP00000363920:R914S;ENSP00000340591:R917S;ENSP00000363926:R842S;ENSP00000311986:R871S;ENSP00000363922:R857S;ENSP00000363908:R871S;ENSP00000341844:R914S;ENSP00000363905:R884S;ENSP00000444429:R630S	ENSP00000341844:R914S	R	-	3	2	PARD3	34660142	0.978000	0.34361	0.886000	0.34754	0.987000	0.75469	0.127000	0.15790	-0.120000	0.11809	0.528000	0.53228	AGA		0.498	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		21	72	0	0	0	1	0	21	72				
MMP12	4321	broad.mit.edu	37	11	102738654	102738654	+	RNA	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:102738654T>C	ENST00000532855.1	-	0	867							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	AGGGACTGAATGCCACGTATG	0.383																																						ENST00000532855.1																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26								matrix metallopeptidase 12 (macrophage elastase)	Acetohydroxamic Acid(DB00551)						65.0	63.0	64.0					11																	102738654		1912	4126	6038			4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102738654T>C	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102738654T>C										P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	0	867	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)						B2R9X8|B7ZLF6|Q2M1L9	RNA	SNP	ENST00000532855.1	37																																																																																						0.383	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		4	18	0	0	0	1	0	4	18				
FBN2	2201	broad.mit.edu	37	5	127654601	127654601	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:127654601C>A	ENST00000508053.1	-	41	5538	c.4564G>T	c.(4564-4566)Gaa>Taa	p.E1522*	FBN2_ENST00000262464.4_Nonsense_Mutation_p.E1522*			P35556	FBN2_HUMAN	fibrillin 2	1522	EGF-like 25; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTGTCCAATTCATAACCATCA	0.378																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(4564-4566)Gaa>Taa		fibrillin 2							116.0	107.0	110.0					5																	127654601		2203	4300	6503	SO:0001587	stop_gained	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127654601C>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.4564G>T	5.37:g.127654601C>A	ENSP00000424571:p.Glu1522*					FBN2_ENST00000262464.4_Nonsense_Mutation_p.E1522*	p.E1522*			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	41	5538	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1522			EGF-like 25; calcium-binding.		B4DU01|Q59ES6	Nonsense_Mutation	SNP	ENST00000508053.1	37	c.4564G>T	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	48	14.070655	0.99778	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	.	.	.	4.84	4.84	0.62591	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	18.5002	0.90878	0.0:1.0:0.0:0.0	.	.	.	.	X	1522	.	ENSP00000262464:E1522X	E	-	1	0	FBN2	127682500	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.609000	0.82925	2.679000	0.91253	0.655000	0.94253	GAA		0.378	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		30	69	1	0	3.73988e-18	1	5.2976e-18	30	69				
GUCY2C	2984	broad.mit.edu	37	12	14778766	14778766	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:14778766A>T	ENST00000261170.3	-	21	2469	c.2333T>A	c.(2332-2334)cTg>cAg	p.L778Q		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	778					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	TTCCTCTACCAGATGTTCCAG	0.433																																						ENST00000261170.3																			0				breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						c.(2332-2334)cTg>cAg		guanylate cyclase 2C (heat stable enterotoxin receptor)							214.0	186.0	195.0					12																	14778766		2203	4300	6503	SO:0001583	missense	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14778766A>T		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.2333T>A	12.37:g.14778766A>T	ENSP00000261170:p.Leu778Gln						p.L778Q	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN			21	2469	-			778					B2RMY6	Missense_Mutation	SNP	ENST00000261170.3	37	c.2333T>A	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.592342	0.86953	.	.	ENSG00000070019	ENST00000261170	D	0.84589	-1.87	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.93812	0.8021	M	0.91561	3.22	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95128	0.8252	10	0.87932	D	0	.	15.5703	0.76330	1.0:0.0:0.0:0.0	.	778	P25092	GUC2C_HUMAN	Q	778	ENSP00000261170:L778Q	ENSP00000261170:L778Q	L	-	2	0	GUCY2C	14670033	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.223000	0.95203	2.138000	0.66242	0.460000	0.39030	CTG		0.433	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			26	135	0	0	0	1	0	26	135				
CNDP1	84735	broad.mit.edu	37	18	72228101	72228101	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr18:72228101G>A	ENST00000358821.3	+	4	542	c.314G>A	c.(313-315)gGt>gAt	p.G105D	RP11-231E4.3_ENST00000583702.1_RNA|CNDP1_ENST00000585136.1_Intron|CNDP1_ENST00000582365.1_Missense_Mutation_p.G62D	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	105						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		CTGCCCGATGGTCAGAGTCTT	0.498																																					Melanoma(32;1029 1042 25286 38395 44237)	ENST00000582365.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(184-186)gGt>gAt		carnosine dipeptidase 1 (metallopeptidase M20 family)							158.0	163.0	161.0					18																	72228101		2203	4300	6503	SO:0001583	missense	84735				proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	g.chr18:72228101G>A		CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"""carnosinase 1"", ""glutamate carboxypeptidase-like protein 2"""	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.314G>A	18.37:g.72228101G>A	ENSP00000351682:p.Gly105Asp					CNDP1_ENST00000585136.1_Intron|CNDP1_ENST00000358821.3_Missense_Mutation_p.G105D	p.G62D			Q96KN2	CNDP1_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.109)	3	251	+		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)	105					Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Missense_Mutation	SNP	ENST00000358821.3	37	c.185G>A	CCDS12007.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.657060	0.29425	.	.	ENSG00000150656	ENST00000358821	T	0.17691	2.26	5.11	4.24	0.50183	.	0.106996	0.64402	N	0.000006	T	0.22666	0.0547	M	0.79475	2.455	0.80722	D	1	B	0.30406	0.278	B	0.24155	0.051	T	0.04678	-1.0934	10	0.66056	D	0.02	-13.8155	13.5477	0.61713	0.0765:0.0:0.9235:0.0	.	105	Q96KN2	CNDP1_HUMAN	D	105	ENSP00000351682:G105D	ENSP00000351682:G105D	G	+	2	0	CNDP1	70379081	1.000000	0.71417	0.214000	0.23707	0.053000	0.15095	7.101000	0.76997	1.154000	0.42482	0.655000	0.94253	GGT		0.498	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256326.1	NM_032649		64	174	0	0	0	1	0	64	174				
UBN1	29855	broad.mit.edu	37	16	4925363	4925363	+	Silent	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr16:4925363G>T	ENST00000396658.4	+	14	3655	c.2952G>T	c.(2950-2952)gtG>gtT	p.V984V	UBN1_ENST00000262376.6_Silent_p.V984V|UBN1_ENST00000545171.1_Silent_p.V984V|UBN1_ENST00000590769.1_Silent_p.V984V	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	984	Ser-rich.				chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						CCCAGGGAGTGGCAAAGTTGC	0.542																																						ENST00000396658.4																			0				NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(2950-2952)gtG>gtT		ubinuclein 1							69.0	74.0	73.0					16																	4925363		2197	4300	6497	SO:0001819	synonymous_variant	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4925363G>T	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.2952G>T	16.37:g.4925363G>T						UBN1_ENST00000545171.1_Silent_p.V984V|UBN1_ENST00000590769.1_Silent_p.V984V|UBN1_ENST00000262376.6_Silent_p.V984V	p.V984V	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN			14	3655	+			984			Ser-rich.		B7Z6D3|D3DUE8|Q13079|Q9P1P7	Silent	SNP	ENST00000396658.4	37	c.2952G>T	CCDS10525.1																																																																																				0.542	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		63	92	1	0	3.56336e-21	1	5.21007e-21	63	92				
TRIM51	84767	broad.mit.edu	37	11	55653184	55653184	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:55653184G>A	ENST00000449290.2	+	2	372	c.280G>A	c.(280-282)Ggg>Agg	p.G94R	TRIM51_ENST00000244891.3_5'Flank	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	94						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										GCAAATATGTGGGATGCACAG	0.483																																						ENST00000449290.2																			0											c.(280-282)Ggg>Agg		tripartite motif-containing 51							11.0	11.0	11.0					11																	55653184		691	1590	2281	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55653184G>A	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.280G>A	11.37:g.55653184G>A	ENSP00000395086:p.Gly94Arg						p.G94R	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN			2	372	+			94					A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.280G>A		.	.	.	.	.	.	.	.	.	.	.	11.06	1.526655	0.27299	.	.	ENSG00000124900	ENST00000449290	T	0.41758	0.99	0.803	0.803	0.18691	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, B-box (3);	.	.	.	.	T	0.42854	0.1221	L	0.40543	1.245	0.09310	N	1	P	0.50156	0.932	P	0.55087	0.768	T	0.24297	-1.0164	9	0.31617	T	0.26	.	7.5005	0.27516	1.0E-4:0.0:0.9999:0.0	.	94	Q9BSJ1	SPRY5_HUMAN	R	94	ENSP00000395086:G94R	ENSP00000395086:G94R	G	+	1	0	SPRYD5	55409760	0.022000	0.18835	0.085000	0.20634	0.176000	0.22953	0.117000	0.15583	0.752000	0.32923	0.152000	0.16155	GGG		0.483	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		10	36	0	0	0	1	0	10	36				
PKHD1	5314	broad.mit.edu	37	6	51768499	51768499	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:51768499T>A	ENST00000371117.3	-	43	7167	c.6892A>T	c.(6892-6894)Aga>Tga	p.R2298*	PKHD1_ENST00000340994.4_Nonsense_Mutation_p.R2298*	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2298					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACGTTGTTTCTTATTATATTT	0.408																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(6892-6894)Aga>Tga		polycystic kidney and hepatic disease 1 (autosomal recessive)							156.0	144.0	148.0					6																	51768499		2203	4300	6503	SO:0001587	stop_gained	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51768499T>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.6892A>T	6.37:g.51768499T>A	ENSP00000360158:p.Arg2298*					PKHD1_ENST00000340994.4_Nonsense_Mutation_p.R2298*	p.R2298*	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			43	7167	-	Lung NSC(77;0.0605)		2298					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Nonsense_Mutation	SNP	ENST00000371117.3	37	c.6892A>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	T	49	15.845331	0.99846	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	.	.	.	5.87	5.87	0.94306	.	0.290426	0.33235	N	0.005127	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	14.0262	0.64586	0.0:0.0:0.0:1.0	.	.	.	.	X	2298	.	ENSP00000341097:R2298X	R	-	1	2	PKHD1	51876458	1.000000	0.71417	0.999000	0.59377	0.584000	0.36387	4.543000	0.60684	2.236000	0.73375	0.528000	0.53228	AGA		0.408	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		27	98	0	0	0	1	0	27	98				
TACR3	6870	broad.mit.edu	37	4	104512753	104512753	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:104512753G>A	ENST00000304883.2	-	4	1116	c.976C>T	c.(976-978)Caa>Taa	p.Q326*	RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	326					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TTTAGTTGTTGATAGATTGCA	0.388																																						ENST00000304883.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(976-978)Caa>Taa		tachykinin receptor 3							112.0	107.0	109.0					4																	104512753		2203	4300	6503	SO:0001587	stop_gained	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104512753G>A	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"""GPCR / Class A : Tachykinin receptors"""	11528	protein-coding gene	gene with protein product	"""neurokinin beta receptor"""	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.976C>T	4.37:g.104512753G>A	ENSP00000303325:p.Gln326*					RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA	p.Q326*	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	4	1116	-		Hepatocellular(203;0.217)	326					Q0P510	Nonsense_Mutation	SNP	ENST00000304883.2	37	c.976C>T	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	G	36	5.774805	0.96922	.	.	ENSG00000169836	ENST00000304883	.	.	.	5.21	5.21	0.72293	.	0.167622	0.52532	D	0.000072	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	13.1519	0.59494	0.0:0.0:0.8405:0.1595	.	.	.	.	X	326	.	ENSP00000303325:Q326X	Q	-	1	0	TACR3	104732202	1.000000	0.71417	0.948000	0.38648	0.791000	0.44710	3.545000	0.53648	2.593000	0.87608	0.655000	0.94253	CAA		0.388	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		25	77	0	0	0	1	0	25	77				
NYAP2	57624	broad.mit.edu	37	2	226447564	226447564	+	Silent	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:226447564C>T	ENST00000272907.6	+	4	1844	c.1431C>T	c.(1429-1431)ccC>ccT	p.P477P	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	477	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												ACTCGACCCCCAGACCCGTGT	0.672																																						ENST00000272907.6																			0											c.(1429-1431)ccC>ccT		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2							38.0	43.0	41.0					2																	226447564		1990	4182	6172	SO:0001819	synonymous_variant	57624							g.chr2:226447564C>T	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.1431C>T	2.37:g.226447564C>T						NYAP2_ENST00000409269.2_Intron	p.P477P	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN			4	1844	+			477			Pro-rich.		A2RRN4|Q96NL2	Silent	SNP	ENST00000272907.6	37	c.1431C>T	CCDS46529.1																																																																																				0.672	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		16	55	0	0	0	1	0	16	55				
CSF3R	1441	broad.mit.edu	37	1	36931963	36931963	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:36931963A>G	ENST00000373106.1	-	17	3053	c.2506T>C	c.(2506-2508)Ttc>Ctc	p.F836L	CSF3R_ENST00000373103.1_Missense_Mutation_p.F863L|MRPS15_ENST00000373116.5_5'Flank|CSF3R_ENST00000361632.4_Missense_Mutation_p.F836L|CSF3R_ENST00000418048.2_Missense_Mutation_p.F836L|CSF3R_ENST00000331941.5_Intron|CSF3R_ENST00000440588.2_Missense_Mutation_p.F863L|CSF3R_ENST00000338937.5_3'UTR|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000373104.1_Intron	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	836					cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	AAGCCCTAGAAGCTCCCCAGC	0.607																																						ENST00000373103.1																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(2587-2589)Ttc>Ctc		colony stimulating factor 3 receptor (granulocyte)	Filgrastim(DB00099)|Pegfilgrastim(DB00019)						26.0	34.0	31.0					1																	36931963		2203	4300	6503	SO:0001583	missense	1441				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr1:36931963A>G	M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"""CD molecules"", ""Fibronectin type III domain containing"""	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.2506T>C	1.37:g.36931963A>G	ENSP00000362198:p.Phe836Leu					CSF3R_ENST00000338937.5_3'UTR|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000440588.2_Missense_Mutation_p.F863L|CSF3R_ENST00000361632.4_Missense_Mutation_p.F836L|CSF3R_ENST00000373106.1_Missense_Mutation_p.F836L|CSF3R_ENST00000418048.2_Missense_Mutation_p.F836L|CSF3R_ENST00000373104.1_Intron|CSF3R_ENST00000331941.5_Intron	p.F863L	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN			17	3134	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	836						Missense_Mutation	SNP	ENST00000373106.1	37	c.2587T>C	CCDS413.1	.	.	.	.	.	.	.	.	.	.	A	9.788	1.177216	0.21787	.	.	ENSG00000119535	ENST00000373106;ENST00000373103;ENST00000361632;ENST00000418048;ENST00000440588	T;T;T;T;T	0.68025	0.5;-0.3;0.5;0.5;-0.3	5.07	0.13	0.14746	.	1.198050	0.05855	N	0.621926	T	0.54127	0.1839	L	0.43152	1.355	0.80722	D	1	B;B;B	0.23377	0.012;0.084;0.012	B;B;B	0.20184	0.012;0.028;0.012	T	0.46541	-0.9184	10	0.32370	T	0.25	.	3.4661	0.07550	0.53:0.0:0.1668:0.3032	.	836;863;836	Q1ZYL6;Q99062-3;Q99062	.;.;CSF3R_HUMAN	L	836;863;836;836;863	ENSP00000362198:F836L;ENSP00000362195:F863L;ENSP00000355406:F836L;ENSP00000401588:F836L;ENSP00000397568:F863L	ENSP00000355406:F836L	F	-	1	0	CSF3R	36704550	0.971000	0.33674	0.947000	0.38551	0.090000	0.18270	0.403000	0.20982	0.119000	0.18210	-0.336000	0.08194	TTC		0.607	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039		9	22	0	0	0	1	0	9	22				
FTH1P3	2498	broad.mit.edu	37	5	17354268	17354268	+	lincRNA	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:17354268G>T	ENST00000511821.1	+	0	127				FTH1P10_ENST00000401830.3_RNA																							ATCACAGTCCGGTTTCTTGAT	0.473																																						ENST00000511821.1																			0																																																			2498							g.chr5:17354268G>T																													5.37:g.17354268G>T						FTH1P10_ENST00000401830.3_RNA								0	127	+									RNA	SNP	ENST00000511821.1	37																																																																																						0.473	CTD-2139B15.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000366261.1			45	126	1	0	2.24893e-16	1	3.10031e-16	45	126				
SNRNP40	9410	broad.mit.edu	37	1	31740720	31740720	+	Silent	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:31740720G>A	ENST00000263694.4	-	8	936	c.918C>T	c.(916-918)gaC>gaT	p.D306D	SNRNP40_ENST00000373720.3_Silent_p.D76D|SNRNP40_ENST00000489853.1_5'UTR|SNRNP40_ENST00000446633.2_Silent_p.D306D	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)	306					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						ATCCTTACCTGTCGGCTGAGC	0.498																																						ENST00000263694.4																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						c.(916-918)gaC>gaT		small nuclear ribonucleoprotein 40kDa (U5)							122.0	108.0	113.0					1																	31740720		2203	4300	6503	SO:0001819	synonymous_variant	9410					catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex|U5 snRNP	protein binding	g.chr1:31740720G>A	AF090988	CCDS340.1	1p35.2	2013-01-09	2008-10-29	2008-10-29	ENSG00000060688	ENSG00000060688		"""WD repeat domain containing"""	30857	protein-coding gene	gene with protein product		607797	"""WD repeat domain 57 (U5 snRNP specific)"""	WDR57		9774689, 9731529, 10788320	Standard	NM_004814		Approved	PRP8BP, SPF38, PRPF8BP, HPRP8BP	uc009vtt.3	Q96DI7	OTTHUMG00000003790	ENST00000263694.4:c.918C>T	1.37:g.31740720G>A						SNRNP40_ENST00000446633.2_Silent_p.D306D|SNRNP40_ENST00000373720.3_Silent_p.D76D|SNRNP40_ENST00000489853.1_5'UTR	p.D306D	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN			8	936	-			306					B4DQJ1|O75938|O95320	Silent	SNP	ENST00000263694.4	37	c.918C>T	CCDS340.1																																																																																				0.498	SNRNP40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010657.1	NM_004814		24	88	0	0	0	1	0	24	88				
DCAF4L2	138009	broad.mit.edu	37	8	88885106	88885106	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:88885106C>A	ENST00000319675.3	-	1	1190	c.1094G>T	c.(1093-1095)aGt>aTt	p.S365I		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	365								p.S365N(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GAAGGCCACACTGGGAATGTC	0.592																																						ENST00000319675.3																			1	Substitution - Missense(1)	p.S365N(1)	lung(1)	breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						c.(1093-1095)aGt>aTt		DDB1 and CUL4 associated factor 4-like 2							69.0	77.0	74.0					8																	88885106		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88885106C>A	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.1094G>T	8.37:g.88885106C>A	ENSP00000316496:p.Ser365Ile						p.S365I	NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN			1	1190	-			365						Missense_Mutation	SNP	ENST00000319675.3	37	c.1094G>T	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974792	0.74360	.	.	ENSG00000176566	ENST00000319675	T	0.24538	1.85	1.37	1.37	0.22104	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.44932	0.1317	M	0.76002	2.32	0.37301	D	0.908688	D	0.89917	1.0	D	0.76071	0.987	T	0.51395	-0.8711	10	0.72032	D	0.01	.	8.2535	0.31741	0.0:1.0:0.0:0.0	.	365	Q8NA75	DC4L2_HUMAN	I	365	ENSP00000316496:S365I	ENSP00000316496:S365I	S	-	2	0	DCAF4L2	88954222	1.000000	0.71417	0.210000	0.23637	0.808000	0.45660	3.121000	0.50438	0.735000	0.32537	0.467000	0.42956	AGT		0.592	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		32	64	1	0	3.57733e-08	1	4.22925e-08	32	64				
ADAMTS16	170690	broad.mit.edu	37	5	5318252	5318252	+	Silent	SNP	G	G	T	rs375765082		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:5318252G>T	ENST00000274181.7	+	22	3555	c.3417G>T	c.(3415-3417)acG>acT	p.T1139T		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1139	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CACAGTGCACGGCCAGCTGTG	0.657																																						ENST00000274181.7																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(3415-3417)acG>acT		ADAM metallopeptidase with thrombospondin type 1 motif, 16							43.0	49.0	47.0					5																	5318252		2094	4213	6307	SO:0001819	synonymous_variant	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5318252G>T	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.3417G>T	5.37:g.5318252G>T							p.T1139T	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			22	3555	+			1139			TSP type-1 6.		C6G490|Q8IVE2	Silent	SNP	ENST00000274181.7	37	c.3417G>T	CCDS43299.1																																																																																				0.657	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		5	15	1	0	0.000602214	1	0.000631671	5	15				
APBA1	320	broad.mit.edu	37	9	72131980	72131980	+	Silent	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:72131980G>A	ENST00000265381.4	-	2	369	c.147C>T	c.(145-147)ggC>ggT	p.G49G		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	49					axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GCTGGTGGCGGCCCACATAGT	0.716																																						ENST00000265381.4																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						c.(145-147)ggC>ggT		amyloid beta (A4) precursor protein-binding, family A, member 1							11.0	11.0	11.0					9																	72131980		2167	4249	6416	SO:0001819	synonymous_variant	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72131980G>A	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.147C>T	9.37:g.72131980G>A							p.G49G	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN			2	369	-			49					O14914|O60570|Q5VYR8	Silent	SNP	ENST00000265381.4	37	c.147C>T	CCDS6630.1																																																																																				0.716	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		4	15	0	0	0	1	0	4	15				
TRIM36	55521	broad.mit.edu	37	5	114499398	114499398	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:114499398G>T	ENST00000282369.3	-	2	236	c.115C>A	c.(115-117)Ctg>Atg	p.L39M	TRIM36_ENST00000515104.1_5'UTR|TRIM36_ENST00000514154.1_Intron|TRIM36_ENST00000513154.1_Missense_Mutation_p.L27M	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	39					acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		TGGGTAAACAGCTCCTTGCAT	0.408																																						ENST00000513154.1																			0				breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37						c.(79-81)Ctg>Atg		tripartite motif containing 36							125.0	117.0	119.0					5																	114499398		2202	4300	6502	SO:0001583	missense	55521					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	g.chr5:114499398G>T	AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16280	protein-coding gene	gene with protein product	"""zinc-binding protein Rbcc728"", ""tripartite motif protein 36"", ""RING finger protein 98"""	609317	"""tripartite motif-containing 36"""			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.115C>A	5.37:g.114499398G>T	ENSP00000282369:p.Leu39Met					TRIM36_ENST00000515104.1_5'UTR|TRIM36_ENST00000282369.3_Missense_Mutation_p.L39M|TRIM36_ENST00000514154.1_Intron	p.L27M			Q9NQ86	TRI36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)	2	405	-		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)	39					A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	ENST00000282369.3	37	c.79C>A	CCDS4115.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.805789	0.31961	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000508894	D;D;D	0.86366	-2.11;-2.11;-2.11	5.31	3.52	0.40303	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.64402	D	0.000001	D	0.90734	0.7092	M	0.75447	2.3	0.80722	D	1	D;P	0.89917	1.0;0.927	D;P	0.91635	0.999;0.781	D	0.87704	0.2562	10	0.21014	T	0.42	.	7.6186	0.28173	0.3585:0.0:0.6415:0.0	.	27;39	E9PFI8;Q9NQ86	.;TRI36_HUMAN	M	39;27;27	ENSP00000282369:L39M;ENSP00000423934:L27M;ENSP00000424743:L27M	ENSP00000282369:L39M	L	-	1	2	TRIM36	114527297	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.096000	0.50243	1.231000	0.43661	0.655000	0.94253	CTG		0.408	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700		19	72	1	0	4.96729e-08	1	5.84565e-08	19	72				
ITPR2	3709	broad.mit.edu	37	12	26589271	26589271	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:26589271C>T	ENST00000381340.3	-	48	7068	c.6652G>A	c.(6652-6654)Gca>Aca	p.A2218T		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2218					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|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)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	CAGAACAGTGCAGGGTTATCT	0.408																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(6652-6654)Gca>Aca		inositol 1,4,5-trisphosphate receptor, type 2							69.0	70.0	70.0					12																	26589271		1918	4122	6040	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26589271C>T	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.6652G>A	12.37:g.26589271C>T	ENSP00000370744:p.Ala2218Thr						p.A2218T	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			48	7068	-	Colorectal(261;0.0847)		2218					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.6652G>A	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.273769	0.23221	.	.	ENSG00000123104	ENST00000381340	D	0.91577	-2.87	4.83	4.83	0.62350	.	0.167468	0.51477	D	0.000095	T	0.81833	0.4906	N	0.12182	0.205	0.80722	D	1	B	0.13145	0.007	B	0.14023	0.01	T	0.76035	-0.3106	10	0.22706	T	0.39	.	15.6714	0.77279	0.0:0.8633:0.1367:0.0	.	2218	Q14571	ITPR2_HUMAN	T	2218	ENSP00000370744:A2218T	ENSP00000370744:A2218T	A	-	1	0	ITPR2	26480538	0.909000	0.30893	0.813000	0.32504	0.509000	0.34042	2.519000	0.45546	2.679000	0.91253	0.650000	0.86243	GCA		0.408	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		6	30	0	0	0	1	0	6	30				
CHL1	10752	broad.mit.edu	37	3	424323	424323	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:424323G>C	ENST00000256509.2	+	18	2787	c.2145G>C	c.(2143-2145)caG>caC	p.Q715H	CHL1_ENST00000397491.2_Missense_Mutation_p.Q699H|CHL1-AS1_ENST00000417612.1_RNA	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AGCCTAGCCAGCCGTCAGACC	0.433																																						ENST00000256509.2																			0				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93						c.(2143-2145)caG>caC		cell adhesion molecule L1-like							66.0	69.0	68.0					3																	424323		2203	4300	6503	SO:0001583	missense	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:424323G>C	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.2145G>C	3.37:g.424323G>C	ENSP00000256509:p.Gln715His					CHL1-AS1_ENST00000417612.1_RNA|CHL1_ENST00000397491.2_Missense_Mutation_p.Q699H	p.Q715H	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	18	2787	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	699			Fibronectin type-III 2.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	c.2145G>C	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.554463	0.27739	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.54071	0.59;0.59	4.86	0.589	0.17452	Fibronectin, type III (3);Immunoglobulin-like fold (1);	1.197400	0.05851	N	0.621173	T	0.34308	0.0893	N	0.21240	0.645	0.21719	N	0.999573	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.12156	0.006;0.006;0.007	T	0.26018	-1.0115	10	0.44086	T	0.13	.	0.8321	0.01132	0.1885:0.2585:0.2906:0.2624	.	699;699;715	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	H	715;699	ENSP00000256509:Q715H;ENSP00000380628:Q699H	ENSP00000256509:Q715H	Q	+	3	2	CHL1	399323	0.000000	0.05858	0.405000	0.26409	0.776000	0.43924	-0.215000	0.09279	0.170000	0.19704	0.591000	0.81541	CAG		0.433	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		25	51	0	0	0	1	0	25	51				
ATRNL1	26033	broad.mit.edu	37	10	117607388	117607388	+	Splice_Site	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:117607388G>T	ENST00000355044.3	+	28	4030	c.3904G>T	c.(3904-3906)Ggg>Tgg	p.G1302W	ATRNL1_ENST00000423111.2_Splice_Site_p.G353W|ATRNL1_ENST00000303745.7_Splice_Site_p.G95W	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1302					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TCTTTTTCAGGGGGCACCCAA	0.438																																						ENST00000355044.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.e28-1		attractin-like 1							93.0	86.0	89.0					10																	117607388		2203	4300	6503	SO:0001630	splice_region_variant	26033					integral to membrane	sugar binding	g.chr10:117607388G>T	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3904-1G>T	10.37:g.117607388G>T						ATRNL1_ENST00000303745.7_Splice_Site_p.G95_splice|ATRNL1_ENST00000423111.2_Splice_Site_p.G353_splice	p.G1302_splice	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	28	4030	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	1302					O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Splice_Site	SNP	ENST00000355044.3	37	c.3903_splice	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.507504	0.85282	.	.	ENSG00000107518	ENST00000355044;ENST00000423111;ENST00000303745	T;T;T	0.45668	0.89;0.89;0.89	5.57	5.57	0.84162	.	0.105474	0.64402	D	0.000005	T	0.61123	0.2322	L	0.54323	1.7	0.58432	D	0.999991	D;D	0.89917	0.998;1.0	P;D	0.71184	0.868;0.972	T	0.56498	-0.7969	9	.	.	.	-9.3927	19.5424	0.95280	0.0:0.0:1.0:0.0	.	353;1302	B4DH41;Q5VV63	.;ATRN1_HUMAN	W	1302;353;95	ENSP00000347152:G1302W;ENSP00000409624:G353W;ENSP00000307660:G95W	.	G	+	1	0	ATRNL1	117597378	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.587000	0.90810	2.622000	0.88805	0.585000	0.79938	GGG		0.438	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349	Missense_Mutation	6	28	1	0	3.59834e-05	1	3.9459e-05	6	28				
PAPPA2	60676	broad.mit.edu	37	1	176809324	176809324	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:176809324G>A	ENST00000367662.3	+	22	6382	c.5218G>A	c.(5218-5220)Ggt>Agt	p.G1740S		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1740					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCAAGCAGATGGTTGGTGTGA	0.512																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(5218-5220)Ggt>Agt		pappalysin 2							155.0	155.0	155.0					1																	176809324		2030	4182	6212	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176809324G>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.5218G>A	1.37:g.176809324G>A	ENSP00000356634:p.Gly1740Ser						p.G1740S	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			22	6382	+			1740					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.5218G>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	35	5.426971	0.96131	.	.	ENSG00000116183	ENST00000367662	D	0.94138	-3.36	5.44	5.44	0.79542	Notch domain (2);	0.000000	0.85682	D	0.000000	D	0.96565	0.8879	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.96381	0.9281	10	0.52906	T	0.07	-17.4589	18.8699	0.92309	0.0:0.0:1.0:0.0	.	1740	Q9BXP8	PAPP2_HUMAN	S	1740	ENSP00000356634:G1740S	ENSP00000356634:G1740S	G	+	1	0	PAPPA2	175075947	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.729000	0.91490	2.544000	0.85801	0.655000	0.94253	GGT		0.512	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			38	164	0	0	0	1	0	38	164				
MMP9	4318	broad.mit.edu	37	20	44640844	44640844	+	Nonsense_Mutation	SNP	A	A	T	rs200855672		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr20:44640844A>T	ENST00000372330.3	+	7	1085	c.1066A>T	c.(1066-1068)Aag>Tag	p.K356*	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	356	Fibronectin type-II 3. {ECO:0000255|PROSITE-ProRule:PRU00479}.				collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	TTTCCTGGGTAAGGAGTACTC	0.627																																						ENST00000372330.3																			0				breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46						c.(1066-1068)Aag>Tag		matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)						72.0	83.0	79.0					20																	44640844		2203	4300	6503	SO:0001587	stop_gained	4318				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	g.chr20:44640844A>T		CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"""matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)"", ""matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"""	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.1066A>T	20.37:g.44640844A>T	ENSP00000361405:p.Lys356*						p.K356*	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN			7	1085	+		Myeloproliferative disorder(115;0.0122)	356			Fibronectin type-II 3.		B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Nonsense_Mutation	SNP	ENST00000372330.3	37	c.1066A>T	CCDS13390.1	.	.	.	.	.	.	.	.	.	.	A	35	5.545365	0.96488	.	.	ENSG00000100985	ENST00000372330;ENST00000545925	.	.	.	4.89	2.49	0.30216	.	0.161334	0.53938	D	0.000047	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.0623	0.25133	0.7132:0.1954:0.0914:0.0	.	.	.	.	X	356;19	.	ENSP00000361405:K356X	K	+	1	0	MMP9	44074251	0.889000	0.30405	1.000000	0.80357	0.827000	0.46813	0.726000	0.25984	0.871000	0.35750	0.459000	0.35465	AAG		0.627	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1			32	141	0	0	0	1	0	32	141				
CFHR2	3080	broad.mit.edu	37	1	196876140	196876140	+	Intron	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:196876140G>T	ENST00000367421.3	+	2	135				CFHR4_ENST00000251424.4_Intron|CFHR4_ENST00000608469.1_Intron|CFHR4_ENST00000367416.2_Missense_Mutation_p.G196C|CFHR4_ENST00000367418.2_Intron			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						TGGTGAAGATGGCTGGTCCCA	0.343																																						ENST00000367416.2																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						c.(586-588)Ggc>Tgc		complement factor H-related 4																																				SO:0001627	intron_variant	10877							g.chr1:196876140G>T	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-42445G>T	1.37:g.196876140G>T						CFHR4_ENST00000367418.1_Intron|CFHR4_ENST00000251424.4_Intron|CFHR2_ENST00000367421.3_Intron	p.G196C	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1					4	723	+								Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367421.3	37	c.586G>T		.	.	.	.	.	.	.	.	.	.	.	17.15	3.314924	0.60524	.	.	ENSG00000134365	ENST00000367416	T	0.57595	0.39	2.96	2.96	0.34315	.	.	.	.	.	T	0.77465	0.4134	H	0.95004	3.61	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.65549	-0.6141	9	0.62326	D	0.03	.	9.4943	0.38978	0.0:0.0:1.0:0.0	.	196;197	C9J7J7;Q5DVJ7	.;.	C	196	ENSP00000356386:G196C	ENSP00000356386:G196C	G	+	1	0	CFHR4	195142763	0.511000	0.26179	0.103000	0.21229	0.712000	0.41017	3.394000	0.52551	1.698000	0.51180	0.430000	0.28490	GGC		0.343	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666		13	47	1	0	4.3838e-07	1	5.05119e-07	13	47				
NACA2	342538	broad.mit.edu	37	17	59668082	59668082	+	Missense_Mutation	SNP	G	G	T	rs76240935		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:59668082G>T	ENST00000521764.1	-	1	481	c.460C>A	c.(460-462)Caa>Aaa	p.Q154K		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	154					myoblast migration (GO:0051451)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					GTGTTTTCTTGAATGTTTCCG	0.433																																						ENST00000521764.1																			0				large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(460-462)Caa>Aaa		nascent polypeptide-associated complex alpha subunit 2							240.0	222.0	228.0					17																	59668082		2203	4300	6503	SO:0001583	missense	342538				protein transport	cytoplasm|nucleus		g.chr17:59668082G>T	BC062710	CCDS11630.1	17q23.3	2014-01-28	2007-04-20	2007-04-20		ENSG00000253506			23290	protein-coding gene	gene with protein product	"""alpha-NAC protein"""	609274	"""nascent-polypeptide-associated complex alpha polypeptide-like"""	NACAL		12406326	Standard	NM_199290		Approved	MGC71999	uc002izj.2	Q9H009		ENST00000521764.1:c.460C>A	17.37:g.59668082G>T	ENSP00000427802:p.Gln154Lys						p.Q154K	NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN			1	481	-	all_epithelial(1;3.12e-14)		154					Q2VIR9	Missense_Mutation	SNP	ENST00000521764.1	37	c.460C>A	CCDS11630.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774348	0.49786	.	.	ENSG00000253506	ENST00000521764	T	0.42131	0.98	0.753	0.753	0.18404	.	0.000000	0.64402	U	0.000003	T	0.38772	0.1053	N	0.20685	0.6	0.45108	D	0.998124	P	0.49447	0.924	P	0.62298	0.9	T	0.10291	-1.0636	9	.	.	.	.	7.3227	0.26536	0.0:0.0:1.0:0.0	.	154	Q9H009	NACA2_HUMAN	K	154	ENSP00000427802:Q154K	.	Q	-	1	0	NACA2	57022864	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	6.497000	0.73674	0.702000	0.31825	0.411000	0.27672	CAA		0.433	NACA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255437.2	NM_199290		71	284	1	0	5.80444e-35	1	8.94416e-35	71	284				
THSD7B	80731	broad.mit.edu	37	2	138169329	138169329	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:138169329G>T	ENST00000409968.1	+	14	3024	c.2846G>T	c.(2845-2847)gGa>gTa	p.G949V	THSD7B_ENST00000413152.2_Missense_Mutation_p.G918V|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.G949V			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	949	TSP type-1 12. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCTCACCGAGGACTGCGGGTA	0.488																																						ENST00000409968.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(2845-2847)gGa>gTa		thrombospondin, type I, domain containing 7B							117.0	115.0	116.0					2																	138169329		1957	4136	6093	SO:0001583	missense	80731							g.chr2:138169329G>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.2846G>T	2.37:g.138169329G>T	ENSP00000387145:p.Gly949Val					THSD7B_ENST00000272643.3_Missense_Mutation_p.G949V|THSD7B_ENST00000413152.2_Missense_Mutation_p.G918V|THSD7B_ENST00000543459.1_Intron	p.G949V						BRCA - Breast invasive adenocarcinoma(221;0.19)	14	3024	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.2846G>T		.	.	.	.	.	.	.	.	.	.	G	18.11	3.550420	0.65311	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.28069	2.15;1.99;1.63	5.62	4.68	0.58851	.	0.332029	0.32273	N	0.006328	T	0.47801	0.1465	M	0.76328	2.33	0.80722	D	1	D;D	0.64830	0.994;0.982	P;P	0.61328	0.887;0.887	T	0.32929	-0.9888	10	0.28530	T	0.3	.	10.3712	0.44055	0.0729:0.1366:0.7905:0.0	.	949;918	Q9C0I4;C9JKN6	THS7B_HUMAN;.	V	949;949;918	ENSP00000387145:G949V;ENSP00000272643:G949V;ENSP00000413841:G918V	ENSP00000272643:G949V	G	+	2	0	THSD7B	137885799	1.000000	0.71417	0.991000	0.47740	0.412000	0.31113	6.795000	0.75140	2.646000	0.89796	0.557000	0.71058	GGA		0.488	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		31	117	1	0	2.47511e-08	1	2.94874e-08	31	117				
PLEKHG3	26030	broad.mit.edu	37	14	65209721	65209721	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr14:65209721C>G	ENST00000394691.1	+	17	3107	c.2960C>G	c.(2959-2961)tCt>tGt	p.S987C	PLEKHG3_ENST00000484731.2_Missense_Mutation_p.S492C|PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000247226.7_Missense_Mutation_p.S931C|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.S520C			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	987							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CCGGTGCTGTCTCTATTTGAC	0.602																																						ENST00000247226.7																			0				endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29						c.(2791-2793)tCt>tGt		pleckstrin homology domain containing, family G (with RhoGef domain) member 3							79.0	81.0	81.0					14																	65209721		2203	4300	6503	SO:0001583	missense	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65209721C>G	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.2960C>G	14.37:g.65209721C>G	ENSP00000378183:p.Ser987Cys					PLEKHG3_ENST00000484731.2_Missense_Mutation_p.S492C|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.S520C|PLEKHG3_ENST00000394691.1_Missense_Mutation_p.S987C|PLEKHG3_ENST00000492928.1_Intron	p.S931C	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	15	3100	+			987					A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	ENST00000394691.1	37	c.2792C>G		.	.	.	.	.	.	.	.	.	.	C	16.56	3.157154	0.57259	.	.	ENSG00000126822	ENST00000247226;ENST00000394691;ENST00000471182;ENST00000484731	T;T;T;T	0.64991	0.32;-0.13;1.24;1.24	5.87	4.98	0.66077	.	0.317889	0.27673	N	0.018321	T	0.70482	0.3229	M	0.61703	1.905	0.09310	N	1	D;D;D;D	0.67145	0.996;0.996;0.983;0.994	P;P;P;P	0.59288	0.855;0.8;0.635;0.8	T	0.64368	-0.6424	10	0.66056	D	0.02	.	9.4082	0.38475	0.1463:0.779:0.0:0.0748	.	520;492;987;931	A1L390-2;G3V311;A1L390;A1L390-3	.;.;PKHG3_HUMAN;.	C	931;987;520;492	ENSP00000247226:S931C;ENSP00000378183:S987C;ENSP00000450945:S520C;ENSP00000450973:S492C	ENSP00000247226:S931C	S	+	2	0	PLEKHG3	64279474	0.028000	0.19301	0.005000	0.12908	0.001000	0.01503	2.202000	0.42743	1.462000	0.47948	-0.181000	0.13052	TCT		0.602	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		39	149	0	0	0	1	0	39	149				
PPL	5493	broad.mit.edu	37	16	4941826	4941826	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr16:4941826C>A	ENST00000345988.2	-	16	2043	c.1954G>T	c.(1954-1956)Ggg>Tgg	p.G652W	PPL_ENST00000590782.2_Missense_Mutation_p.G650W	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	652					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						AGCTCCTGCCCCTTGCTGTCC	0.602																																						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.(1954-1956)Ggg>Tgg		periplakin							90.0	85.0	87.0					16																	4941826		2197	4300	6497	SO:0001583	missense	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4941826C>A	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.1954G>T	16.37:g.4941826C>A	ENSP00000340510:p.Gly652Trp					PPL_ENST00000590782.2_Missense_Mutation_p.G650W	p.G652W	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN			16	2043	-			652					O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	c.1954G>T	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.827925	0.32329	.	.	ENSG00000118898	ENST00000345988	T	0.34072	1.38	5.37	1.76	0.24704	.	0.195617	0.45361	D	0.000374	T	0.19127	0.0459	N	0.22421	0.69	0.22762	N	0.998767	P	0.47106	0.89	B	0.36289	0.221	T	0.11891	-1.0569	10	0.59425	D	0.04	.	7.5899	0.28015	0.0:0.0741:0.4179:0.508	.	652	O60437	PEPL_HUMAN	W	652	ENSP00000340510:G652W	ENSP00000340510:G652W	G	-	1	0	PPL	4881827	1.000000	0.71417	0.998000	0.56505	0.253000	0.25986	1.838000	0.39211	0.026000	0.15269	-0.367000	0.07326	GGG		0.602	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		55	136	1	0	2.01807e-28	1	3.07288e-28	55	136				
GGCX	2677	broad.mit.edu	37	2	85782667	85782667	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:85782667T>C	ENST00000233838.4	-	6	745	c.665A>G	c.(664-666)gAc>gGc	p.D222G	GGCX_ENST00000430215.3_Missense_Mutation_p.D165G|GGCX_ENST00000473665.1_5'Flank	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	222					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	gamma-glutamyl carboxylase activity (GO:0008488)			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022)	TTCAACCCAGTCTGCATCCAG	0.443																																						ENST00000233838.3																			0				endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15						c.(664-666)gAc>gGc		gamma-glutamyl carboxylase	Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)						112.0	105.0	107.0					2																	85782667		2203	4300	6503	SO:0001583	missense	2677				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity	g.chr2:85782667T>C		CCDS1978.1, CCDS46353.1	2p12	2008-05-21			ENSG00000115486	ENSG00000115486			4247	protein-coding gene	gene with protein product	"""vitamin K-dependent gamma-carboxylase"""	137167				1749935	Standard	NM_000821		Approved	VKCFD1	uc002sps.3	P38435	OTTHUMG00000130173	ENST00000233838.4:c.665A>G	2.37:g.85782667T>C	ENSP00000233838:p.Asp222Gly					GGCX_ENST00000430215.3_Missense_Mutation_p.D165G	p.D222G	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN			6	745	-			222					B4DMC5|E9PEE1|Q14415|Q6GU45	Missense_Mutation	SNP	ENST00000233838.4	37	c.665A>G	CCDS1978.1	.	.	.	.	.	.	.	.	.	.	T	27.4	4.824701	0.90955	.	.	ENSG00000115486	ENST00000233838;ENST00000430215	D;D	0.95171	-3.63;-3.63	5.66	5.66	0.87406	HTTM (1);	0.000000	0.85682	D	0.000000	D	0.97068	0.9042	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;0.999	D	0.97533	1.0081	10	0.72032	D	0.01	-22.8493	14.1385	0.65303	0.0:0.0:0.0:1.0	.	165;61;222	E9PEE1;B4DQW4;P38435	.;.;VKGC_HUMAN	G	222;165	ENSP00000233838:D222G;ENSP00000408045:D165G	ENSP00000233838:D222G	D	-	2	0	GGCX	85636178	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.216000	0.77974	2.280000	0.76307	0.533000	0.62120	GAC		0.443	GGCX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252490.3	NM_000821		11	39	0	0	0	1	0	11	39				
DCAF8L1	139425	broad.mit.edu	37	X	27998283	27998283	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chrX:27998283G>T	ENST00000441525.1	-	1	1283	c.1169C>A	c.(1168-1170)cCa>cAa	p.P390Q		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	390										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						GATGTTTGTTGGGAAATCACA	0.413																																						ENST00000441525.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						c.(1168-1170)cCa>cAa		DDB1 and CUL4 associated factor 8-like 1							104.0	93.0	97.0					X																	27998283		2202	4300	6502	SO:0001583	missense	139425							g.chrX:27998283G>T		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.1169C>A	X.37:g.27998283G>T	ENSP00000405222:p.Pro390Gln						p.P390Q	NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN			1	1283	-			390					B3KXX1	Missense_Mutation	SNP	ENST00000441525.1	37	c.1169C>A	CCDS35222.1	.	.	.	.	.	.	.	.	.	.	G	4.357	0.065799	0.08388	.	.	ENSG00000226372	ENST00000441525	T	0.65364	-0.15	1.08	-0.442	0.12253	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.255241	0.37012	N	0.002299	T	0.43478	0.1249	L	0.42245	1.32	0.27580	N	0.94963	B	0.22211	0.066	B	0.17098	0.017	T	0.15521	-1.0434	10	0.25106	T	0.35	0.1992	3.748	0.08555	0.0:0.0:0.4341:0.5659	.	390	A6NGE4	DC8L1_HUMAN	Q	390	ENSP00000405222:P390Q	ENSP00000405222:P390Q	P	-	2	0	DCAF8L1	27908204	1.000000	0.71417	0.001000	0.08648	0.033000	0.12548	2.004000	0.40854	-0.163000	0.10946	0.284000	0.19432	CCA		0.413	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		34	38	1	0	1.26612e-14	1	1.70286e-14	34	38				
ZSCAN25	221785	broad.mit.edu	37	7	99226830	99226830	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:99226830A>T	ENST00000394152.2	+	8	1149	c.822A>T	c.(820-822)gaA>gaT	p.E274D	ZSCAN25_ENST00000334715.3_Missense_Mutation_p.E274D|ZSCAN25_ENST00000466948.1_Intron|ZSCAN25_ENST00000262941.6_Missense_Mutation_p.E202D	NM_145115.2	NP_660090.2	Q6NSZ9	ZSC25_HUMAN	zinc finger and SCAN domain containing 25	274					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)										GGAGCAAGGAAAAGGAGGCAA	0.557																																						ENST00000394152.2																			0											c.(820-822)gaA>gaT		zinc finger and SCAN domain containing 25							67.0	74.0	72.0					7																	99226830		2203	4300	6503	SO:0001583	missense	221785							g.chr7:99226830A>T	AK057030	CCDS5671.2	7q22.1	2013-01-09	2013-01-09	2013-01-09	ENSG00000197037	ENSG00000197037		"""-"", ""Zinc fingers, C2H2-type"""	21961	protein-coding gene	gene with protein product			"""zinc finger protein 498"""	ZNF498		11179890	Standard	XM_005250194		Approved	FLJ32468	uc003url.1	Q6NSZ9	OTTHUMG00000074055	ENST00000394152.2:c.822A>T	7.37:g.99226830A>T	ENSP00000377708:p.Glu274Asp					ZSCAN25_ENST00000466948.1_Intron|ZSCAN25_ENST00000334715.3_Missense_Mutation_p.E274D|ZSCAN25_ENST00000262941.6_Missense_Mutation_p.E202D	p.E274D	NM_145115.2	NP_660090.2					8	1149	+								A4D290|D6W5T5|Q14C82|Q14C99|Q5EBM9|Q6DJZ0|Q6N032|Q6ZML3	Missense_Mutation	SNP	ENST00000394152.2	37	c.822A>T	CCDS5671.2	.	.	.	.	.	.	.	.	.	.	A	7.204	0.594016	0.13875	.	.	ENSG00000197037	ENST00000394152;ENST00000334715;ENST00000262941	T;T;T	0.08720	3.06;3.06;3.1	3.89	-4.54	0.03452	Krueppel-associated box (1);	0.324971	0.22109	N	0.064503	T	0.03871	0.0109	L	0.27053	0.805	0.28736	N	0.902205	B;B	0.09022	0.002;0.001	B;B	0.11329	0.006;0.003	T	0.23619	-1.0183	10	0.35671	T	0.21	-8.337	2.4667	0.04554	0.3269:0.1347:0.4058:0.1325	.	202;274	Q6NSZ9-2;Q6NSZ9	.;ZN498_HUMAN	D	274;274;202	ENSP00000377708:E274D;ENSP00000334800:E274D;ENSP00000262941:E202D	ENSP00000262941:E202D	E	+	3	2	ZNF498	99064766	0.000000	0.05858	0.910000	0.35882	0.606000	0.37113	-1.481000	0.02323	-0.959000	0.03618	0.459000	0.35465	GAA		0.557	ZSCAN25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157203.4	NM_145115		24	109	0	0	0	1	0	24	109				
SNAPC4	6621	broad.mit.edu	37	9	139286432	139286432	+	Missense_Mutation	SNP	C	C	A	rs372524659		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:139286432C>A	ENST00000298532.2	-	9	1305	c.937G>T	c.(937-939)Ggc>Tgc	p.G313C		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		TCCAGGTGGCCGTGTGCAGCC	0.662																																						ENST00000298532.2																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33						c.(937-939)Ggc>Tgc		small nuclear RNA activating complex, polypeptide 4, 190kDa							58.0	57.0	57.0					9																	139286432		2203	4299	6502	SO:0001583	missense	6621				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:139286432C>A	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.937G>T	9.37:g.139286432C>A	ENSP00000298532:p.Gly313Cys						p.G313C	NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	9	1305	-		Myeloproliferative disorder(178;0.0511)	313			HTH myb-type 1.			Missense_Mutation	SNP	ENST00000298532.2	37	c.937G>T	CCDS6998.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.620937	0.46736	.	.	ENSG00000165684	ENST00000298532	T	0.30182	1.54	5.35	4.34	0.51931	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.468654	0.24710	N	0.036231	T	0.60038	0.2238	M	0.94021	3.485	0.28917	N	0.892368	D	0.89917	1.0	D	0.79784	0.993	T	0.62229	-0.6898	10	0.87932	D	0	-39.7908	6.6974	0.23207	0.0:0.726:0.0:0.274	.	313	Q5SXM2	SNPC4_HUMAN	C	313	ENSP00000298532:G313C	ENSP00000298532:G313C	G	-	1	0	SNAPC4	138406253	0.065000	0.20965	0.954000	0.39281	0.337000	0.28794	0.614000	0.24314	2.507000	0.84556	0.655000	0.94253	GGC		0.662	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086		15	91	1	0	0.000219431	1	0.000234953	15	91				
ZNF800	168850	broad.mit.edu	37	7	127013772	127013772	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:127013772C>G	ENST00000393313.1	-	5	2209	c.1618G>C	c.(1618-1620)Gtg>Ctg	p.V540L	ZNF800_ENST00000393312.1_Missense_Mutation_p.V540L|ZNF800_ENST00000485577.1_5'Flank|ZNF800_ENST00000265827.3_Missense_Mutation_p.V540L			Q2TB10	ZN800_HUMAN	zinc finger protein 800	540					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.V540M(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						TTATGAACCACAGTTATATGT	0.348																																						ENST00000393313.1																			2	Substitution - Missense(2)	p.V540M(2)	skin(2)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						c.(1618-1620)Gtg>Ctg		zinc finger protein 800							79.0	77.0	77.0					7																	127013772		2202	4300	6502	SO:0001583	missense	168850				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:127013772C>G	AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"""Zinc fingers, C2H2-type"""	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.1618G>C	7.37:g.127013772C>G	ENSP00000376989:p.Val540Leu					ZNF800_ENST00000393312.1_Missense_Mutation_p.V540L|ZNF800_ENST00000265827.3_Missense_Mutation_p.V540L	p.V540L			Q2TB10	ZN800_HUMAN			5	2209	-			540					Q9HBN0	Missense_Mutation	SNP	ENST00000393313.1	37	c.1618G>C	CCDS5795.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.033312	0.54896	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312	T;T;T	0.77750	-1.12;-1.12;-1.12	6.07	6.07	0.98685	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.81692	0.4876	N	0.24115	0.695	0.30780	N	0.742105	D;D	0.63046	0.992;0.992	D;D	0.76071	0.987;0.987	T	0.78846	-0.2043	8	.	.	.	-3.737	19.6475	0.95784	0.0:1.0:0.0:0.0	.	443;540	B7Z4V7;Q2TB10	.;ZN800_HUMAN	L	540	ENSP00000376989:V540L;ENSP00000265827:V540L;ENSP00000376988:V540L	.	V	-	1	0	ZNF800	126801008	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.885000	0.99019	0.655000	0.94253	GTG		0.348	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1	NM_176814		39	127	0	0	0	1	0	39	127				
IGKV1D-12	28903	broad.mit.edu	37	2	90198986	90198986	+	RNA	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:90198986G>T	ENST00000390276.2	+	0	328									immunoglobulin kappa variable 1D-12																		GGGCGAGTCAGGGTATTAGCA	0.517																																						ENST00000390276.2																			0																				47.0	62.0	58.0					2																	90198986		1377	3983	5360			28903							g.chr2:90198986G>T	X17263		2p11.2	2014-05-06			ENSG00000240834	ENSG00000278857		"""Immunoglobulins / IGK locus"""	5746	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000188272		2.37:g.90198986G>T														0	328	+									RNA	SNP	ENST00000390276.2	37																																																																																						0.517	IGKV1D-12-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323139.2	NG_000833		40	151	1	0	9.39024e-22	1	1.38081e-21	40	151				
CCDC54	84692	broad.mit.edu	37	3	107097161	107097161	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:107097161C>A	ENST00000261058.1	+	1	974	c.727C>A	c.(727-729)Cca>Aca	p.P243T		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	243										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						TTACATTTACCCAGACTTCAG	0.363																																						ENST00000261058.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						c.(727-729)Cca>Aca		coiled-coil domain containing 54							91.0	98.0	95.0					3																	107097161		2203	4300	6503	SO:0001583	missense	84692							g.chr3:107097161C>A	AF367469	CCDS2949.1	3q13.12	2013-10-11			ENSG00000138483	ENSG00000138483			30703	protein-coding gene	gene with protein product	"""sperm protein 17"""					15257753	Standard	NM_032600		Approved	NYD-SP17, FLJ25362, SP17	uc003dwi.1	Q8NEL0	OTTHUMG00000159169	ENST00000261058.1:c.727C>A	3.37:g.107097161C>A	ENSP00000261058:p.Pro243Thr						p.P243T	NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN			1	974	+			243					Q96A43	Missense_Mutation	SNP	ENST00000261058.1	37	c.727C>A	CCDS2949.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.059963	0.55325	.	.	ENSG00000138483	ENST00000261058	T	0.74315	-0.83	4.85	4.85	0.62838	.	0.147317	0.31438	N	0.007644	D	0.83413	0.5249	M	0.66939	2.045	0.32760	N	0.505268	D	0.76494	0.999	D	0.68483	0.958	D	0.87807	0.2629	10	0.87932	D	0	-3.2413	13.4648	0.61247	0.0:1.0:0.0:0.0	.	243	Q8NEL0	CCD54_HUMAN	T	243	ENSP00000261058:P243T	ENSP00000261058:P243T	P	+	1	0	CCDC54	108579851	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	3.488000	0.53229	2.243000	0.73865	0.460000	0.39030	CCA		0.363	CCDC54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353651.1	NM_032600		24	174	1	0	7.87624e-14	1	1.04475e-13	24	174				
CYP46A1	10858	broad.mit.edu	37	14	100173021	100173021	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr14:100173021G>T	ENST00000261835.3	+	6	585	c.481G>T	c.(481-483)Gct>Tct	p.A161S	CYP46A1_ENST00000423126.2_Missense_Mutation_p.A64S|CYP46A1_ENST00000554176.1_Missense_Mutation_p.A8S	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	161					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|nervous system development (GO:0007399)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol 24-hydroxylase activity (GO:0033781)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				CAACGAGAAGGCTGAGCAGCT	0.552																																						ENST00000554176.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25						c.(22-24)Gct>Tct		cytochrome P450, family 46, subfamily A, polypeptide 1							103.0	94.0	97.0					14																	100173021		2203	4300	6503	SO:0001583	missense	10858				bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity	g.chr14:100173021G>T	AF094480	CCDS9954.1	14q32.2	2013-05-03	2003-02-14	2003-02-28	ENSG00000036530	ENSG00000036530		"""Cytochrome P450s"""	2641	protein-coding gene	gene with protein product		604087	"""cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)"""	CYP46		10377398	Standard	NM_006668		Approved		uc001ygo.3	Q9Y6A2	OTTHUMG00000171510	ENST00000261835.3:c.481G>T	14.37:g.100173021G>T	ENSP00000261835:p.Ala161Ser					CYP46A1_ENST00000261835.3_Missense_Mutation_p.A161S|CYP46A1_ENST00000423126.2_Missense_Mutation_p.A64S	p.A8S			Q9Y6A2	CP46A_HUMAN			1	688	+		Melanoma(154;0.0866)|all_epithelial(191;0.179)	161					B4DHP8|E7EQG9|Q8N2B0	Missense_Mutation	SNP	ENST00000261835.3	37	c.22G>T	CCDS9954.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.83|10.83	1.460815|1.460815	0.26248|0.26248	.|.	.|.	ENSG00000036530|ENSG00000036530	ENST00000261835;ENST00000423126;ENST00000554176|ENST00000380228	T;T;T|.	0.71341|.	-0.48;-0.56;-0.56|.	4.17|4.17	3.26|3.26	0.37387|0.37387	.|.	0.113753|.	0.64402|.	D|.	0.000018|.	T|T	0.49184|0.49184	0.1542|0.1542	L|L	0.28649|0.28649	0.875|0.875	0.48135|0.48135	D|D	0.999595|0.999595	B;B;B|.	0.25272|.	0.122;0.022;0.004|.	B;B;B|.	0.38683|.	0.279;0.169;0.023|.	T|T	0.35400|0.35400	-0.9790|-0.9790	10|5	0.12766|.	T|.	0.61|.	.|.	9.8109|9.8109	0.40822|0.40822	0.0:0.0:0.7936:0.2064|0.0:0.0:0.7936:0.2064	.|.	8;161;132|.	Q8N2B0;Q9Y6A2;Q59ER2|.	.;CP46A_HUMAN;.|.	S|V	161;64;8|147	ENSP00000261835:A161S;ENSP00000405779:A64S;ENSP00000450553:A8S|.	ENSP00000261835:A161S|.	A|G	+|+	1|2	0|0	CYP46A1|CYP46A1	99242774|99242774	1.000000|1.000000	0.71417|0.71417	0.968000|0.968000	0.41197|0.41197	0.945000|0.945000	0.59286|0.59286	5.109000|5.109000	0.64615|0.64615	1.029000|1.029000	0.39812|0.39812	-0.188000|-0.188000	0.12872|0.12872	GCT|GGC		0.552	CYP46A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413814.1			28	67	1	0	1.04121e-07	1	1.21975e-07	28	67				
DIP2A	23181	broad.mit.edu	37	21	47918501	47918501	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr21:47918501C>T	ENST00000417564.2	+	5	431	c.410C>T	c.(409-411)tCg>tTg	p.S137L	DIP2A_ENST00000466639.1_Missense_Mutation_p.S137L|DIP2A_ENST00000427143.2_Missense_Mutation_p.S73L|DIP2A_ENST00000318711.7_Missense_Mutation_p.S137L|DIP2A_ENST00000400274.1_Missense_Mutation_p.S137L|DIP2A_ENST00000457905.3_Missense_Mutation_p.S137L|DIP2A_ENST00000435722.3_Missense_Mutation_p.S137L			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	137					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		ACAGACACGTCGTCTGCCTCA	0.592																																						ENST00000318711.7																			0				cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(409-411)tCg>tTg		DIP2 disco-interacting protein 2 homolog A (Drosophila)							160.0	174.0	169.0					21																	47918501		2139	4242	6381	SO:0001583	missense	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47918501C>T	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.410C>T	21.37:g.47918501C>T	ENSP00000392066:p.Ser137Leu					DIP2A_ENST00000417564.2_Missense_Mutation_p.S137L|DIP2A_ENST00000400274.1_Missense_Mutation_p.S137L|DIP2A_ENST00000457905.3_Missense_Mutation_p.S137L|DIP2A_ENST00000435722.3_Missense_Mutation_p.S137L|DIP2A_ENST00000427143.2_Missense_Mutation_p.S73L|DIP2A_ENST00000466639.1_Missense_Mutation_p.S137L	p.S137L	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	5	593	+	Breast(49;0.0933)		137					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	37	c.410C>T	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	C	33	5.274879	0.95459	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000358985;ENST00000457905;ENST00000466639;ENST00000435722;ENST00000417564	T;T;T;T;T;T;T	0.31247	1.66;1.6;1.73;1.62;1.5;1.64;1.73	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000001	T	0.59335	0.2186	M	0.80746	2.51	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.998;1.0;0.973;0.999;0.997	D;P;D;P;D;D	0.85130	0.997;0.83;0.996;0.449;0.91;0.922	T	0.59600	-0.7424	10	0.41790	T	0.15	-12.5451	18.1659	0.89727	0.0:1.0:0.0:0.0	.	137;73;137;137;137;137	E9PER1;E7EMA5;Q14689-3;Q14689;Q14689-4;Q14689-2	.;.;.;DIP2A_HUMAN;.;.	L	137;73;137;137;137;137;137;137	ENSP00000383133:S137L;ENSP00000400528:S73L;ENSP00000323633:S137L;ENSP00000393434:S137L;ENSP00000430249:S137L;ENSP00000415089:S137L;ENSP00000392066:S137L	ENSP00000323633:S137L	S	+	2	0	DIP2A	46742929	1.000000	0.71417	0.972000	0.41901	0.959000	0.62525	7.680000	0.84062	2.532000	0.85374	0.555000	0.69702	TCG		0.592	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		48	203	0	0	0	1	0	48	203				
SERPINA12	145264	broad.mit.edu	37	14	94964667	94964667	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr14:94964667G>T	ENST00000341228.2	-	3	863	c.68C>A	c.(67-69)cCg>cAg	p.P23Q	SERPINA12_ENST00000556881.1_Missense_Mutation_p.P23Q	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	23					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		TGAGAAGCTCGGCTTTAGAAG	0.483																																						ENST00000341228.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(67-69)cCg>cAg		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12							106.0	107.0	107.0					14																	94964667		2203	4300	6503	SO:0001583	missense	145264				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94964667G>T	AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"""Serine (or cysteine) peptidase inhibitors"""	18359	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"""			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.68C>A	14.37:g.94964667G>T	ENSP00000342109:p.Pro23Gln					SERPINA12_ENST00000556881.1_Missense_Mutation_p.P23Q	p.P23Q	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN		COAD - Colon adenocarcinoma(157;0.235)	3	863	-			23						Missense_Mutation	SNP	ENST00000341228.2	37	c.68C>A	CCDS9926.1	.	.	.	.	.	.	.	.	.	.	G	9.340	1.062693	0.19987	.	.	ENSG00000165953	ENST00000556881;ENST00000341228	D;D	0.87491	-2.26;-2.26	5.75	-0.168	0.13343	Serpin domain (1);	0.921182	0.09181	N	0.837461	T	0.70124	0.3188	N	0.08118	0	0.09310	N	1	B	0.18013	0.025	B	0.13407	0.009	T	0.55755	-0.8091	10	0.21540	T	0.41	.	5.9485	0.19232	0.16:0.0:0.4174:0.4226	.	23	Q8IW75	SPA12_HUMAN	Q	23	ENSP00000451738:P23Q;ENSP00000342109:P23Q	ENSP00000342109:P23Q	P	-	2	0	SERPINA12	94034420	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.381000	0.20619	0.272000	0.22027	0.655000	0.94253	CCG		0.483	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413097.1	NM_173850		33	116	1	0	6.04164e-23	1	8.9523e-23	33	116				
EPHB2	2048	broad.mit.edu	37	1	23234652	23234652	+	Silent	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:23234652C>T	ENST00000400191.3	+	12	2361	c.2343C>T	c.(2341-2343)acC>acT	p.T781T	EPHB2_ENST00000374630.3_Silent_p.T781T|EPHB2_ENST00000374632.3_Silent_p.T782T|EPHB2_ENST00000374627.1_Silent_p.T776T	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	781	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CCACCTACACCAGTGCCCTGG	0.567																																						ENST00000400191.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56						c.(2341-2343)acC>acT		EPH receptor B2							71.0	62.0	65.0					1																	23234652		2203	4300	6503	SO:0001819	synonymous_variant	2048				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23234652C>T	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.2343C>T	1.37:g.23234652C>T						EPHB2_ENST00000374627.1_Silent_p.T776T|EPHB2_ENST00000374632.3_Silent_p.T782T|EPHB2_ENST00000374630.3_Silent_p.T781T	p.T781T	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	12	2361	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	781			Protein kinase.		O43477|Q5T0U6|Q5T0U7|Q5T0U8	Silent	SNP	ENST00000400191.3	37	c.2343C>T																																																																																					0.567	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		4	64	0	0	0	1	0	4	64				
FADD	8772	broad.mit.edu	37	11	70052514	70052514	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:70052514A>T	ENST00000301838.4	+	2	859	c.562A>T	c.(562-564)Aac>Tac	p.N188Y	RP11-805J14.5_ENST00000527232.1_RNA|RP11-805J14.5_ENST00000526174.1_RNA	NM_003824.3	NP_003815.1	Q13158	FADD_HUMAN	Fas (TNFRSF6)-associated via death domain	188					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|motor neuron apoptotic process (GO:0097049)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of activation-induced cell death of T cells (GO:0070236)|negative regulation of necroptotic process (GO:0060546)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000454)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of proteolysis (GO:0045862)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|protein heterooligomerization (GO:0051291)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|ripoptosome (GO:0097342)	death effector domain binding (GO:0035877)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|tumor necrosis factor receptor superfamily binding (GO:0032813)			endometrium(1)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(2)	9	Esophageal squamous(2;1.19e-45)		LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TGACCTCCAGAACAGGAGTGG	0.617																																						ENST00000301838.4																			0				endometrium(1)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(2)	9						c.(562-564)Aac>Tac		Fas (TNFRSF6)-associated via death domain							58.0	54.0	55.0					11																	70052514		2200	4294	6494	SO:0001583	missense	8772				activation of caspase activity|activation of pro-apoptotic gene products|cellular response to mechanical stimulus|defense response to virus|induction of apoptosis via death domain receptors|innate immune response|interspecies interaction between organisms|necrotic cell death|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|signal transduction	cytosol	death receptor binding|identical protein binding	g.chr11:70052514A>T	U24231	CCDS8196.1	11q13.3	2014-09-17			ENSG00000168040	ENSG00000168040			3573	protein-coding gene	gene with protein product	"""Fas-associating protein with death domain"", ""Fas-associating death domain-containing protein"", ""mediator of receptor-induced toxicity"", ""growth-inhibiting gene 3 protein"""	602457				7536190, 7538907	Standard	NM_003824		Approved	MORT1, GIG3	uc001opm.2	Q13158	OTTHUMG00000167264	ENST00000301838.4:c.562A>T	11.37:g.70052514A>T	ENSP00000301838:p.Asn188Tyr					RP11-805J14.5_ENST00000526174.1_RNA	p.N188Y	NM_003824.3	NP_003815.1	Q13158	FADD_HUMAN	LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		2	859	+	Esophageal squamous(2;1.19e-45)		188					Q14866|Q6IBR4	Missense_Mutation	SNP	ENST00000301838.4	37	c.562A>T	CCDS8196.1	.	.	.	.	.	.	.	.	.	.	A	15.51	2.853872	0.51270	.	.	ENSG00000168040	ENST00000301838	T	0.79454	-1.27	3.34	3.34	0.38264	DEATH-like (2);	1.255950	0.05774	N	0.607401	T	0.77157	0.4089	L	0.29908	0.895	0.09310	N	1	D	0.71674	0.998	P	0.54060	0.741	T	0.65344	-0.6191	10	0.66056	D	0.02	-12.6617	8.3839	0.32488	1.0:0.0:0.0:0.0	.	188	Q13158	FADD_HUMAN	Y	188	ENSP00000301838:N188Y	ENSP00000301838:N188Y	N	+	1	0	FADD	69730162	0.004000	0.15560	0.005000	0.12908	0.047000	0.14425	0.379000	0.20585	1.757000	0.51966	0.418000	0.28097	AAC		0.617	FADD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393902.1	NM_003824		12	78	0	0	0	1	0	12	78				
EPB42	2038	broad.mit.edu	37	15	43508523	43508523	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr15:43508523C>G	ENST00000441366.2	-	2	364	c.139G>C	c.(139-141)Gct>Cct	p.A47P	EPB42_ENST00000300215.3_Missense_Mutation_p.A77P|EPB42_ENST00000540029.1_Missense_Mutation_p.A47P	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	47					cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		CGGACTGGAGCGCGGAAGTAC	0.602																																						ENST00000300215.3																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(229-231)Gct>Cct		erythrocyte membrane protein band 4.2							99.0	87.0	91.0					15																	43508523		2203	4299	6502	SO:0001583	missense	2038				erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton	g.chr15:43508523C>G	M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947		"""Transglutaminases"""	3381	protein-coding gene	gene with protein product	"""Erythrocyte surface protein band 4.2"""	177070				1284644	Standard	NM_000119		Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000441366.2:c.139G>C	15.37:g.43508523C>G	ENSP00000396616:p.Ala47Pro					EPB42_ENST00000540029.1_Missense_Mutation_p.A47P|EPB42_ENST00000441366.2_Missense_Mutation_p.A47P	p.A77P			P16452	EPB42_HUMAN		GBM - Glioblastoma multiforme(94;8.7e-07)	2	686	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	47					Q4KKX0|Q4VB97	Missense_Mutation	SNP	ENST00000441366.2	37	c.229G>C	CCDS45249.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.355864	0.24598	.	.	ENSG00000166947	ENST00000300215;ENST00000540029;ENST00000441366;ENST00000397027	D;D;D	0.85258	-1.96;-1.96;-1.96	5.02	-3.25	0.05079	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.691357	0.14813	N	0.296927	T	0.70263	0.3204	L	0.29908	0.895	0.09310	N	1	P;B;B	0.34757	0.467;0.005;0.003	B;B;B	0.37650	0.255;0.015;0.018	T	0.60434	-0.7264	10	0.27785	T	0.31	-0.4019	2.3052	0.04173	0.123:0.2658:0.1328:0.4784	.	47;77;47	F5H563;P16452-2;P16452	.;.;EPB42_HUMAN	P	77;47;47;47	ENSP00000300215:A77P;ENSP00000444699:A47P;ENSP00000396616:A47P	ENSP00000300215:A77P	A	-	1	0	EPB42	41295815	0.003000	0.15002	0.000000	0.03702	0.028000	0.11728	-0.173000	0.09854	-0.409000	0.07553	-0.122000	0.15005	GCT		0.602	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	NM_000119		15	52	0	0	0	1	0	15	52				
OR2J2	26707	broad.mit.edu	37	6	29142110	29142110	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:29142110C>T	ENST00000377167.2	+	1	800	c.698C>T	c.(697-699)aCt>aTt	p.T233I		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						CAATCAACCACTGGGCTTCAG	0.458																																						ENST00000377167.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						c.(697-699)aCt>aTt		olfactory receptor, family 2, subfamily J, member 2							138.0	119.0	125.0					6																	29142110		1932	4140	6072	SO:0001583	missense	26707				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29142110C>T		CCDS43434.1	6p22.2-p21.31	2012-08-09			ENSG00000204700	ENSG00000204700		"""GPCR / Class A : Olfactory receptors"""	8260	protein-coding gene	gene with protein product							Standard	NM_030905		Approved	OR6-8, hs6M1-6, dJ80I19.4	uc011dlm.2	O76002	OTTHUMG00000031091	ENST00000377167.2:c.698C>T	6.37:g.29142110C>T	ENSP00000366372:p.Thr233Ile						p.T233I	NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN			1	800	+			233					A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Missense_Mutation	SNP	ENST00000377167.2	37	c.698C>T	CCDS43434.1	.	.	.	.	.	.	.	.	.	.	C	3.004	-0.205430	0.06180	.	.	ENSG00000204700	ENST00000377167	T	0.00115	8.71	2.0	-0.394	0.12434	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00073	0.0002	L	0.58302	1.8	0.09310	N	1	P	0.42620	0.785	P	0.50136	0.632	T	0.04307	-1.0961	9	0.51188	T	0.08	.	3.103	0.06333	0.4647:0.3585:0.0:0.1768	.	233	O76002	OR2J2_HUMAN	I	233	ENSP00000366372:T233I	ENSP00000366372:T233I	T	+	2	0	OR2J2	29250089	0.000000	0.05858	0.048000	0.18961	0.410000	0.31052	-0.586000	0.05787	0.167000	0.19631	0.205000	0.17691	ACT		0.458	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076131.2			66	81	0	0	0	1	0	66	81				
LGR6	59352	broad.mit.edu	37	1	202287818	202287818	+	Missense_Mutation	SNP	C	C	T	rs145765655		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:202287818C>T	ENST00000367278.3	+	18	2476	c.2387C>T	c.(2386-2388)tCc>tTc	p.S796F	LGR6_ENST00000439764.2_Missense_Mutation_p.S657F|LGR6_ENST00000255432.7_Missense_Mutation_p.S744F	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	796					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						AGCTTTGCCTCCATGCTGGGC	0.647																																						ENST00000367278.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						c.(2386-2388)tCc>tTc		leucine-rich repeat containing G protein-coupled receptor 6							101.0	83.0	89.0					1																	202287818		2203	4300	6503	SO:0001583	missense	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202287818C>T	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.2387C>T	1.37:g.202287818C>T	ENSP00000356247:p.Ser796Phe					LGR6_ENST00000439764.2_Missense_Mutation_p.S657F|LGR6_ENST00000255432.7_Missense_Mutation_p.S744F	p.S796F	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN			18	2476	+			796					Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Missense_Mutation	SNP	ENST00000367278.3	37	c.2387C>T	CCDS30971.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805549	0.70682	.	.	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000439764	T;T;T	0.72835	-0.69;-0.69;-0.69	4.49	4.49	0.54785	.	0.057054	0.64402	D	0.000001	T	0.81978	0.4937	L	0.58101	1.795	0.48696	D	0.999691	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.983;0.998	D	0.83996	0.0340	10	0.72032	D	0.01	.	17.768	0.88484	0.0:1.0:0.0:0.0	.	657;744;796	Q9HBX8-1;Q9HBX8-2;Q9HBX8	.;.;LGR6_HUMAN	F	796;744;657	ENSP00000356247:S796F;ENSP00000255432:S744F;ENSP00000387869:S657F	ENSP00000255432:S744F	S	+	2	0	LGR6	200554441	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.757000	0.68766	2.510000	0.84645	0.485000	0.47835	TCC		0.647	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		48	119	0	0	0	1	0	48	119				
HERC2P3	283755	broad.mit.edu	37	15	20644077	20644077	+	RNA	SNP	T	T	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr15:20644077T>G	ENST00000428453.1	-	0	3384							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TAACTGGGCCTAGTGCAGACC	0.557																																						ENST00000428453.1																			0				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															37.0	29.0	32.0					15																	20644077		2192	4270	6462			283755							g.chr15:20644077T>G	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20644077T>G														0	3384	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.557	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		13	36	0	0	0	1	0	13	36				
ADAM29	11086	broad.mit.edu	37	4	175897975	175897975	+	Silent	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:175897975T>C	ENST00000359240.3	+	5	1969	c.1299T>C	c.(1297-1299)gaT>gaC	p.D433D	ADAM29_ENST00000514159.1_Silent_p.D433D|ADAM29_ENST00000445694.1_Silent_p.D433D|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Silent_p.D433D	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	433	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CTCTGACTGATGGTTCTACTT	0.443																																					Ovarian(140;1727 1835 21805 25838 41440)	ENST00000359240.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(1297-1299)gaT>gaC		ADAM metallopeptidase domain 29							191.0	178.0	183.0					4																	175897975		2203	4300	6503	SO:0001819	synonymous_variant	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175897975T>C	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.1299T>C	4.37:g.175897975T>C						ADAM29_ENST00000514159.1_Silent_p.D433D|ADAM29_ENST00000404450.4_Silent_p.D433D|ADAM29_ENST00000445694.1_Silent_p.D433D	p.D433D	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	1969	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	433			Disintegrin.		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Silent	SNP	ENST00000359240.3	37	c.1299T>C	CCDS3823.1																																																																																				0.443	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				29	88	0	0	0	1	0	29	88				
NRXN1	9378	broad.mit.edu	37	2	50733732	50733732	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:50733732C>T	ENST00000406316.2	-	13	3874	c.2398G>A	c.(2398-2400)Gct>Act	p.A800T	NRXN1_ENST00000401669.2_Missense_Mutation_p.A800T|NRXN1_ENST00000402717.3_Missense_Mutation_p.A792T|NRXN1_ENST00000405472.3_Missense_Mutation_p.A792T|NRXN1_ENST00000404971.1_Missense_Mutation_p.A840T|NRXN1_ENST00000406859.3_Missense_Mutation_p.A800T|NRXN1_ENST00000331040.5_5'UTR	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	800	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTATAGCCAGCAAAAAGAGTC	0.448																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(2518-2520)Gct>Act		neurexin 1							117.0	110.0	113.0					2																	50733732		1904	4120	6024	SO:0001583	missense	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50733732C>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2398G>A	2.37:g.50733732C>T	ENSP00000384311:p.Ala800Thr					NRXN1_ENST00000405472.3_Missense_Mutation_p.A792T|NRXN1_ENST00000402717.3_Missense_Mutation_p.A792T|NRXN1_ENST00000406316.2_Missense_Mutation_p.A800T|NRXN1_ENST00000401669.2_Missense_Mutation_p.A800T|NRXN1_ENST00000406859.3_Missense_Mutation_p.A800T|NRXN1_ENST00000331040.5_5'UTR	p.A840T	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		14	3857	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	800			Laminin G-like 4.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.2518G>A	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.893560	0.91889	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23;-1.23	5.7	5.7	0.88788	.	0.052857	0.85682	D	0.000000	D	0.84051	0.5387	L	0.55481	1.735	0.40776	D	0.98313	P;D;D	0.61697	0.934;0.99;0.978	P;P;P	0.61940	0.701;0.889;0.896	T	0.79344	-0.1842	10	0.17832	T	0.49	.	19.8388	0.96673	0.0:1.0:0.0:0.0	.	840;800;792	Q9ULB1-3;F8WB18;A7E294	.;.;.	T	840;800;792;800;841;792;800	ENSP00000385142:A840T;ENSP00000384311:A800T;ENSP00000434015:A792T;ENSP00000385017:A800T;ENSP00000385434:A792T;ENSP00000385681:A800T	ENSP00000385017:A800T	A	-	1	0	NRXN1	50587236	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.950000	0.70265	2.695000	0.91970	0.561000	0.74099	GCT		0.448	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			9	35	0	0	0	1	0	9	35				
CHP2	63928	broad.mit.edu	37	16	23767242	23767242	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr16:23767242C>A	ENST00000300113.2	+	3	638	c.215C>A	c.(214-216)cCc>cAc	p.P72H		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	72	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to calcium ion (GO:0071277)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		AGCTTCTTCCCCGATGGGTGA	0.587																																						ENST00000300113.2																			0				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9						c.(214-216)cCc>cAc		calcineurin-like EF-hand protein 2							46.0	48.0	47.0					16																	23767242		2197	4300	6497	SO:0001583	missense	63928						calcium ion binding	g.chr16:23767242C>A		CCDS10617.1	16p12.2	2013-01-11	2013-01-11		ENSG00000166869	ENSG00000166869		"""EF-hand domain containing"""	24927	protein-coding gene	gene with protein product						12226101	Standard	NM_022097		Approved		uc002dmb.1	O43745	OTTHUMG00000131611	ENST00000300113.2:c.215C>A	16.37:g.23767242C>A	ENSP00000300113:p.Pro72His						p.P72H	NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0144)	3	638	+			72			EF-hand 2.		A8K2I8	Missense_Mutation	SNP	ENST00000300113.2	37	c.215C>A	CCDS10617.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.000356	0.54147	.	.	ENSG00000166869	ENST00000300113	T	0.30182	1.54	4.54	2.46	0.29980	EF-hand-like domain (1);	0.150135	0.44285	D	0.000475	T	0.28863	0.0716	L	0.53249	1.67	0.35327	D	0.78529	B	0.21309	0.054	B	0.17098	0.017	T	0.32428	-0.9907	10	0.48119	T	0.1	-6.5948	12.4758	0.55811	0.0:0.6764:0.3236:0.0	.	72	O43745	CHP2_HUMAN	H	72	ENSP00000300113:P72H	ENSP00000300113:P72H	P	+	2	0	AC130454.2	23674743	0.003000	0.15002	0.497000	0.27552	0.535000	0.34838	0.961000	0.29267	0.569000	0.29329	0.591000	0.81541	CCC		0.587	CHP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254498.1	NM_022097		36	71	1	0	3.76114e-14	1	5.01485e-14	36	71				
SDK1	221935	broad.mit.edu	37	7	3658737	3658737	+	Silent	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:3658737G>T	ENST00000404826.2	+	2	463	c.324G>T	c.(322-324)acG>acT	p.T108T	SDK1_ENST00000389531.3_Silent_p.T108T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	108	Ig-like C2-type 1.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ATTTTAAAACGGAGCCAGGCC	0.438																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(322-324)acG>acT		sidekick cell adhesion molecule 1							57.0	42.0	47.0					7																	3658737		2203	4300	6503	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:3658737G>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.324G>T	7.37:g.3658737G>T						SDK1_ENST00000389531.3_Silent_p.T108T	p.T108T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	2	463	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	108			Ig-like C2-type 1.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.324G>T	CCDS34590.1																																																																																				0.438	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		7	19	1	0	1.6384e-10	1	2.04999e-10	7	19				
KLRC3	3823	broad.mit.edu	37	12	10570964	10570964	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:10570964A>T	ENST00000396439.2	-	4	509	c.465T>A	c.(463-465)tgT>tgA	p.C155*	KLRC3_ENST00000381904.2_Nonsense_Mutation_p.C155*|KLRC3_ENST00000381903.2_Nonsense_Mutation_p.C155*|NKG2-E_ENST00000539033.1_Nonsense_Mutation_p.C155*	NM_002261.2	NP_002252.2	Q07444	NKG2E_HUMAN	killer cell lectin-like receptor subfamily C, member 3	155	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.		C -> S (in dbSNP:rs2682495). {ECO:0000269|PubMed:11751968, ECO:0000269|PubMed:8276468, ECO:0000269|PubMed:9683661, ECO:0000269|Ref.5}.		cellular defense response (GO:0006968)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						CATTATCTATACAAAGCAGAC	0.323																																						ENST00000396439.2																			0				large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(463-465)tgT>tgA		killer cell lectin-like receptor subfamily C, member 3							117.0	125.0	122.0					12																	10570964		2203	4300	6503	SO:0001587	stop_gained	3823							g.chr12:10570964A>T	L14542	CCDS31744.1, CCDS41755.1	12p13	2008-08-05			ENSG00000205810	ENSG00000205810		"""Killer cell lectin-like receptors"""	6376	protein-coding gene	gene with protein product		602892				9598306	Standard	NM_002261		Approved	NKG2-E	uc001qyi.1	Q07444	OTTHUMG00000167149	ENST00000396439.2:c.465T>A	12.37:g.10570964A>T	ENSP00000379716:p.Cys155*					NKG2-E_ENST00000539033.1_Nonsense_Mutation_p.C155*|KLRC3_ENST00000381904.2_Nonsense_Mutation_p.C155*|KLRC3_ENST00000381903.2_Nonsense_Mutation_p.C155*	p.C155*	NM_002261.2	NP_002252.2					4	509	-								Q8WXA4|Q96RL0|Q9UP04	Nonsense_Mutation	SNP	ENST00000396439.2	37	c.465T>A	CCDS41755.1	.	.	.	.	.	.	.	.	.	.	a	11.95	1.792591	0.31685	.	.	ENSG00000255641;ENSG00000205810;ENSG00000205810;ENSG00000205810	ENST00000539033;ENST00000396439;ENST00000381904;ENST00000381903	.	.	.	2.34	-1.27	0.09347	.	1.051540	0.07498	N	0.906816	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	5.8447	0.18659	0.4327:0.0:0.5673:0.0	.	.	.	.	X	155	.	ENSP00000371328:C155X	C	-	3	2	KLRC3;RP11-277P12.6	10462231	0.000000	0.05858	0.037000	0.18230	0.016000	0.09150	-2.180000	0.01258	-0.295000	0.08960	0.373000	0.22412	TGT		0.323	KLRC3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393471.1	NM_002261		48	183	0	0	0	1	0	48	183				
AP4E1	23431	broad.mit.edu	37	15	51285690	51285690	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr15:51285690G>A	ENST00000261842.5	+	17	2320	c.2214G>A	c.(2212-2214)atG>atA	p.M738I	AP4E1_ENST00000560508.1_Missense_Mutation_p.M663I	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	738					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		AGAGTATAATGGAGAATGTAG	0.393																																						ENST00000261842.5																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27						c.(2212-2214)atG>atA		adaptor-related protein complex 4, epsilon 1 subunit							98.0	86.0	90.0					15																	51285690		2196	4294	6490	SO:0001583	missense	23431				intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity	g.chr15:51285690G>A	AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.2214G>A	15.37:g.51285690G>A	ENSP00000261842:p.Met738Ile					AP4E1_ENST00000560508.1_Missense_Mutation_p.M663I	p.M738I	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN		all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)	17	2320	+			738					A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	ENST00000261842.5	37	c.2214G>A	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	G	7.535	0.659567	0.14645	.	.	ENSG00000081014	ENST00000261842	T	0.16457	2.34	5.29	1.12	0.20585	.	0.616845	0.18528	N	0.138568	T	0.09202	0.0227	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25433	-1.0132	10	0.35671	T	0.21	-0.3136	4.4907	0.11812	0.4291:0.1596:0.4113:0.0	.	738	Q9UPM8	AP4E1_HUMAN	I	738	ENSP00000261842:M738I	ENSP00000261842:M738I	M	+	3	0	AP4E1	49072982	0.077000	0.21312	0.830000	0.32933	0.950000	0.60333	0.016000	0.13377	0.237000	0.21200	-0.244000	0.11960	ATG		0.393	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			17	81	0	0	0	1	0	17	81				
ABCB5	340273	broad.mit.edu	37	7	20744406	20744406	+	Silent	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:20744406C>A	ENST00000404938.2	+	20	3049	c.2397C>A	c.(2395-2397)gcC>gcA	p.A799A	ABCB5_ENST00000258738.6_Silent_p.A354A	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	799	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CAATATTAGCCATAGATATAG	0.353																																						ENST00000404938.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						c.(2395-2397)gcC>gcA		ATP-binding cassette, sub-family B (MDR/TAP), member 5							142.0	134.0	137.0					7																	20744406		2203	4300	6503	SO:0001819	synonymous_variant	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20744406C>A	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.2397C>A	7.37:g.20744406C>A						ABCB5_ENST00000258738.6_Silent_p.A354A	p.A799A	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN			20	3049	+			354			ABC transporter 2.		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Silent	SNP	ENST00000404938.2	37	c.2397C>A	CCDS55090.1																																																																																				0.353	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		13	49	1	0	4.36969e-10	1	5.39744e-10	13	49				
ALDH4A1	8659	broad.mit.edu	37	1	19209672	19209672	+	Silent	SNP	C	C	A	rs142063145		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:19209672C>A	ENST00000375341.3	-	7	881	c.624G>T	c.(622-624)tcG>tcT	p.S208S	MIR4695_ENST00000577305.1_RNA|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538839.1_Silent_p.S208S|ALDH4A1_ENST00000538309.1_Silent_p.S148S|ALDH4A1_ENST00000454547.1_5'UTR|ALDH4A1_ENST00000290597.5_Silent_p.S208S	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	208					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802)			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		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;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGTTAAAGGGCGAGATGGCCG	0.667																																						ENST00000375341.3																			0				cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15						c.(622-624)tcG>tcT		aldehyde dehydrogenase 4 family, member A1	NADH(DB00157)						38.0	41.0	40.0					1																	19209672		2202	4298	6500	SO:0001819	synonymous_variant	8659				proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity	g.chr1:19209672C>A	U24266	CCDS188.1, CCDS53272.1	1p36	2008-02-05			ENSG00000159423	ENSG00000159423	1.5.1.12	"""Aldehyde dehydrogenases"""	406	protein-coding gene	gene with protein product		606811		ALDH4		8621661	Standard	NM_003748		Approved	P5CDh	uc001bbc.3	P30038	OTTHUMG00000002443	ENST00000375341.3:c.624G>T	1.37:g.19209672C>A						ALDH4A1_ENST00000538839.1_Silent_p.S208S|ALDH4A1_ENST00000538309.1_Silent_p.S148S|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000454547.1_5'UTR|ALDH4A1_ENST00000290597.5_Silent_p.S208S	p.S208S	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	7	881	-		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)	208					A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Silent	SNP	ENST00000375341.3	37	c.624G>T	CCDS188.1																																																																																				0.667	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006954.1			22	73	1	0	5.26018e-13	1	6.87116e-13	22	73				
RSAD2	91543	broad.mit.edu	37	2	7023518	7023518	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:7023518C>A	ENST00000382040.3	+	2	499	c.363C>A	c.(361-363)aaC>aaA	p.N121K	RSAD2_ENST00000541728.1_Missense_Mutation_p.N14K	NM_080657.4	NP_542388.2			radical S-adenosyl methionine domain containing 2											endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		AGAAGATCAACTTTTCAGGTG	0.413																																						ENST00000382040.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20						c.(361-363)aaC>aaA		radical S-adenosyl methionine domain containing 2							112.0	112.0	112.0					2																	7023518		2203	4300	6503	SO:0001583	missense	91543				defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding	g.chr2:7023518C>A	AF442151	CCDS1656.1	2p25.2	2008-02-05			ENSG00000134321	ENSG00000134321			30908	protein-coding gene	gene with protein product		607810				11752458	Standard	NM_080657		Approved	cig5, viperin, vig1	uc002qyp.1	Q8WXG1	OTTHUMG00000090352	ENST00000382040.3:c.363C>A	2.37:g.7023518C>A	ENSP00000371471:p.Asn121Lys					RSAD2_ENST00000541728.1_Missense_Mutation_p.N14K	p.N121K	NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.191)	2	499	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		121						Missense_Mutation	SNP	ENST00000382040.3	37	c.363C>A	CCDS1656.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.259385	0.59321	.	.	ENSG00000134321	ENST00000442639;ENST00000382040;ENST00000541728	T;D;T	0.93076	-1.29;-3.16;-1.29	5.9	4.12	0.48240	Elongator protein 3/MiaB/NifB (1);Radical SAM (1);	0.000000	0.85682	D	0.000000	D	0.96417	0.8831	M	0.91354	3.2	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.94409	0.7630	10	0.28530	T	0.3	-56.1396	7.01	0.24857	0.0:0.6315:0.0:0.3685	.	121	Q8WXG1	RSAD2_HUMAN	K	53;121;14	ENSP00000406427:N53K;ENSP00000371471:N121K;ENSP00000440859:N14K	ENSP00000371471:N121K	N	+	3	2	RSAD2	6940969	1.000000	0.71417	0.996000	0.52242	0.745000	0.42441	1.287000	0.33284	0.836000	0.34901	-0.253000	0.11424	AAC		0.413	RSAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206724.2	NM_080657		14	68	1	0	2.32078e-09	1	2.83488e-09	14	68				
MROH7	374977	broad.mit.edu	37	1	55118986	55118986	+	Silent	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:55118986G>A	ENST00000421030.2	+	3	672	c.387G>A	c.(385-387)ctG>ctA	p.L129L	MROH7_ENST00000545244.1_Intron|MROH7_ENST00000339553.5_Silent_p.L129L|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000395690.2_Silent_p.L129L|MROH7-TTC4_ENST00000414150.2_Silent_p.L129L|MROH7_ENST00000454855.2_Intron	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	129						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											ACCCCATtctgagccctagct	0.532																																						ENST00000414150.2																			0											c.(385-387)ctG>ctA		maestro heat-like repeat family member 7							105.0	101.0	102.0					1																	55118986		1925	4139	6064	SO:0001819	synonymous_variant	374977							g.chr1:55118986G>A	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.387G>A	1.37:g.55118986G>A						MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000395690.2_Silent_p.L129L|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000339553.5_Silent_p.L129L|MROH7_ENST00000421030.2_Silent_p.L129L|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000454855.2_Intron	p.L129L							3	665	+								A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Silent	SNP	ENST00000421030.2	37	c.387G>A	CCDS41342.2																																																																																				0.532	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		43	150	0	0	0	1	0	43	150				
ERBB3	2065	broad.mit.edu	37	12	56492688	56492688	+	Splice_Site	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:56492688G>A	ENST00000267101.3	+	23	3278	c.2838G>A	c.(2836-2838)aaG>aaA	p.K946K	ERBB3_ENST00000553131.1_Splice_Site_p.K187K|ERBB3_ENST00000415288.2_Splice_Site_p.K887K|ERBB3_ENST00000450146.2_Splice_Site_p.K303K|ERBB3_ENST00000549832.1_Splice_Site_p.K66K|RP11-603J24.9_ENST00000548861.1_5'Flank	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	946	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|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)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TGATGGTCAAGTGTGAGTTAC	0.453																																						ENST00000267101.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.e23+1		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							100.0	87.0	91.0					12																	56492688		2203	4300	6503	SO:0001630	splice_region_variant	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56492688G>A	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.2839+1G>A	12.37:g.56492688G>A						ERBB3_ENST00000450146.2_Splice_Site_p.K303_splice|ERBB3_ENST00000415288.2_Splice_Site_p.K887_splice|ERBB3_ENST00000553131.1_Splice_Site_p.K187_splice|ERBB3_ENST00000549832.1_Splice_Site_p.K66_splice	p.K946_splice	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		23	3278	+			946			Protein kinase.		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Splice_Site	SNP	ENST00000267101.3	37	c.2839_splice	CCDS31833.1																																																																																				0.453	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3		Silent	31	62	0	0	0	1	0	31	62				
C8B	732	broad.mit.edu	37	1	57411576	57411576	+	Silent	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:57411576C>G	ENST00000371237.4	-	7	1089	c.1023G>C	c.(1021-1023)ggG>ggC	p.G341G	C8B_ENST00000543257.1_Silent_p.G289G|C8B_ENST00000535057.1_Silent_p.G279G	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	341	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TGTAGTGGGTCCCAAAATCAC	0.517																																						ENST00000543257.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						c.(865-867)ggG>ggC		complement component 8, beta polypeptide							88.0	85.0	86.0					1																	57411576		2203	4300	6503	SO:0001819	synonymous_variant	732				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		g.chr1:57411576C>G	M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"""Complement system"""	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.1023G>C	1.37:g.57411576C>G						C8B_ENST00000371237.4_Silent_p.G341G|C8B_ENST00000535057.1_Silent_p.G279G	p.G289G	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN			8	1433	-			341			MACPF.		A1L4K7	Silent	SNP	ENST00000371237.4	37	c.867G>C	CCDS30730.1																																																																																				0.517	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2			22	66	0	0	0	1	0	22	66				
PYDC2	152138	broad.mit.edu	37	3	191179008	191179008	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:191179008C>A	ENST00000518817.1	+	1	57	c.57C>A	c.(55-57)agC>agA	p.S19R		NM_001083308.1	NP_001076777.1	Q56P42	PYDC2_HUMAN	pyrin domain containing 2	19	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						AGCAGCTCAGCCAGGATGAGT	0.542																																						ENST00000518817.1																			0				breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(55-57)agC>agA		pyrin domain containing 2							71.0	78.0	76.0					3																	191179008		2203	4299	6502	SO:0001583	missense	152138					cytoplasm|nucleus		g.chr3:191179008C>A			3q28	2008-07-29				ENSG00000253548			33512	protein-coding gene	gene with protein product		615701				17178784	Standard	NM_001083308		Approved	POP2	uc011bso.2	Q56P42		ENST00000518817.1:c.57C>A	3.37:g.191179008C>A	ENSP00000428325:p.Ser19Arg						p.S19R	NM_001083308.1	NP_001076777.1	Q56P42	PYDC2_HUMAN			1	57	+			19			DAPIN.			Missense_Mutation	SNP	ENST00000518817.1	37	c.57C>A		.	.	.	.	.	.	.	.	.	.	C	11.76	1.733360	0.30684	.	.	ENSG00000253548	ENST00000518817	T	0.49720	0.77	0.688	0.688	0.18027	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.38108	0.1028	.	.	.	0.09310	N	1	P	0.48589	0.912	P	0.44394	0.448	T	0.18398	-1.0338	7	0.35671	T	0.21	.	.	.	.	.	19	Q56P42	PYDC2_HUMAN	R	19	ENSP00000428325:S19R	ENSP00000428325:S19R	S	+	3	2	PYDC2	192661702	0.771000	0.28555	0.095000	0.20976	0.307000	0.27823	0.305000	0.19254	0.635000	0.30488	0.313000	0.20887	AGC		0.542	PYDC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000343231.2	NM_001083308		21	136	1	0	3.51602e-12	1	4.51641e-12	21	136				
FLCN	201163	broad.mit.edu	37	17	17127250	17127250	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:17127250C>T	ENST00000285071.4	-	6	1058	c.604G>A	c.(604-606)Ggc>Agc	p.G202S	RP11-45M22.4_ENST00000427497.3_Intron|FLCN_ENST00000389169.5_Missense_Mutation_p.G202S	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	202					cell-cell junction assembly (GO:0007043)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in kidney development (GO:1901723)|negative regulation of energy homeostasis (GO:2000506)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of gene expression (GO:0010629)|negative regulation of mitochondrion organization (GO:0010823)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of gene expression (GO:0010628)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of TOR signaling (GO:0032008)|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 cytokinesis (GO:0032465)|regulation of histone acetylation (GO:0035065)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|regulation of TOR signaling (GO:0032006)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AGCGCCTTGCCCTGGAGCTCA	0.612									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome																													ENST00000285071.4																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(604-606)Ggc>Agc		folliculin							47.0	41.0	43.0					17																	17127250		2203	4300	6503	SO:0001583	missense	201163	Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome	Familial Cancer Database	Familial Clear Cell Renal Cell Cancer, FcRCC, Familial Non-VHL Non-Papillary Clear Cell Renal Cancer;BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis	regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding	g.chr17:17127250C>T	AF517523	CCDS32579.1, CCDS32580.1	17p11.2	2014-09-17			ENSG00000154803	ENSG00000154803			27310	protein-coding gene	gene with protein product		607273					Standard	NM_144997		Approved	BHD, MGC17998, MGC23445	uc002gra.4	Q8NFG4	OTTHUMG00000059275	ENST00000285071.4:c.604G>A	17.37:g.17127250C>T	ENSP00000285071:p.Gly202Ser					RP11-45M22.4_ENST00000427497.3_Intron|FLCN_ENST00000389169.5_Missense_Mutation_p.G202S	p.G202S	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN			6	1058	-			202					A6NJJ8|Q6ZRX1|Q96BD2|Q96BE4	Missense_Mutation	SNP	ENST00000285071.4	37	c.604G>A	CCDS32579.1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.414522	0.25465	.	.	ENSG00000154803	ENST00000285071;ENST00000389169;ENST00000417064	D;D;D	0.87491	-2.26;-2.26;-2.26	5.74	4.77	0.60923	.	0.213853	0.56097	N	0.000021	T	0.63954	0.2555	N	0.00926	-1.1	0.39338	D	0.965539	B;B	0.19583	0.037;0.0	B;B	0.15052	0.012;0.002	T	0.65874	-0.6062	10	0.02654	T	1	-36.6712	14.2082	0.65748	0.0:0.9284:0.0:0.0716	.	202;202	Q8NFG4-2;Q8NFG4	.;FLCN_HUMAN	S	202;202;149	ENSP00000285071:G202S;ENSP00000373821:G202S;ENSP00000410410:G149S	ENSP00000285071:G202S	G	-	1	0	FLCN	17067975	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.395000	0.59678	1.573000	0.49748	-0.258000	0.10820	GGC		0.612	FLCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131577.1	NM_144606		9	47	0	0	0	1	0	9	47				
OR5C1	392391	broad.mit.edu	37	9	125551240	125551240	+	Missense_Mutation	SNP	C	C	T	rs200687612	byFrequency	TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:125551240C>T	ENST00000373680.2	+	1	91	c.29C>T	c.(28-30)gCg>gTg	p.A10V		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	10						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						ACCCGGGCCGCGGTTGCCCCT	0.597													C|||	2	0.000399361	0.0	0.0	5008	,	,		18747	0.0		0.002	False		,,,				2504	0.0					ENST00000373680.2																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						c.(28-30)gCg>gTg		olfactory receptor, family 5, subfamily C, member 1		C	VAL/ALA	0,4406		0,0,2203	71.0	74.0	73.0		29	-1.0	0.0	9		73	3,8597	3.0+/-9.4	0,3,4297	yes	missense	OR5C1	NM_001001923.1	64	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	benign	10/321	125551240	3,13003	2203	4300	6503	SO:0001583	missense	392391				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125551240C>T	AF399514	CCDS35131.1	9q34.2	2012-08-09			ENSG00000148215	ENSG00000148215		"""GPCR / Class A : Olfactory receptors"""	8331	protein-coding gene	gene with protein product				OR5C2P			Standard	NM_001001923		Approved	OR9-F, hRPK-465_F_21	uc011lzd.2	Q8NGR4	OTTHUMG00000020622	ENST00000373680.2:c.29C>T	9.37:g.125551240C>T	ENSP00000362784:p.Ala10Val						p.A10V	NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN			1	91	+			10					B2RN54|B9EGT0|Q96RC4	Missense_Mutation	SNP	ENST00000373680.2	37	c.29C>T	CCDS35131.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	0.125	-1.120524	0.01785	0.0	3.49E-4	ENSG00000148215	ENST00000373680	T	0.36699	1.24	4.94	-0.99	0.10238	.	1.484550	0.04686	U	0.413241	T	0.16214	0.0390	N	0.05031	-0.125	0.09310	N	1	B	0.18461	0.028	B	0.09377	0.004	T	0.16660	-1.0395	10	0.20519	T	0.43	.	4.5492	0.12103	0.5053:0.1877:0.307:0.0	.	10	Q8NGR4	OR5C1_HUMAN	V	10	ENSP00000362784:A10V	ENSP00000362784:A10V	A	+	2	0	OR5C1	124591061	0.004000	0.15560	0.001000	0.08648	0.000000	0.00434	0.221000	0.17680	-0.073000	0.12842	-0.884000	0.02946	GCG		0.597	OR5C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053953.1			27	112	0	0	0	1	0	27	112				
GRIA2	2891	broad.mit.edu	37	4	158256889	158256889	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:158256889T>C	ENST00000264426.9	+	10	1612	c.1333T>C	c.(1333-1335)Tac>Cac	p.Y445H	GRIA2_ENST00000296526.7_Missense_Mutation_p.Y445H|GRIA2_ENST00000507898.1_Missense_Mutation_p.Y398H|GRIA2_ENST00000449365.1_Missense_Mutation_p.Y398H|GRIA2_ENST00000393815.2_Missense_Mutation_p.Y398H	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	445					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|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)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|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)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	CTATGAGGGCTACTGTGTTGA	0.423																																						ENST00000296526.7																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(1333-1335)Tac>Cac		glutamate receptor, ionotropic, AMPA 2	L-Glutamic Acid(DB00142)						165.0	142.0	150.0					4																	158256889		2203	4300	6503	SO:0001583	missense	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|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	g.chr4:158256889T>C		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.1333T>C	4.37:g.158256889T>C	ENSP00000264426:p.Tyr445His					GRIA2_ENST00000507898.1_Missense_Mutation_p.Y398H|GRIA2_ENST00000393815.2_Missense_Mutation_p.Y398H|GRIA2_ENST00000264426.9_Missense_Mutation_p.Y445H|GRIA2_ENST00000449365.1_Missense_Mutation_p.Y398H	p.Y445H	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	10	1658	+	all_hematologic(180;0.24)	Renal(120;0.0458)	445					A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	c.1333T>C	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.160595	0.78226	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	D;D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06;-2.06	5.86	5.86	0.93980	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.94138	0.8120	H	0.96889	3.9	0.80722	D	1	P;P;P	0.44734	0.707;0.842;0.81	P;P;P	0.54629	0.501;0.757;0.503	D	0.95625	0.8684	10	0.87932	D	0	.	16.5602	0.84551	0.0:0.0:0.0:1.0	.	445;445;398	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	H	398;398;445;445;398	ENSP00000426845:Y398H;ENSP00000377403:Y398H;ENSP00000296526:Y445H;ENSP00000264426:Y445H;ENSP00000389837:Y398H	ENSP00000264426:Y445H	Y	+	1	0	GRIA2	158476339	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.997000	0.88414	2.367000	0.80283	0.528000	0.53228	TAC		0.423	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			8	61	0	0	0	1	0	8	61				
SPRR1B	6699	broad.mit.edu	37	1	153004998	153004998	+	Silent	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:153004998C>A	ENST00000307098.4	+	2	242	c.177C>A	c.(175-177)ccC>ccA	p.P59P	SPRR1B_ENST00000392661.3_Intron	NM_003125.2	NP_003116.2	P22528	SPR1B_HUMAN	small proline-rich protein 1B	59	6 X 8 AA approximate tandem repeats.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)	p.C41_P64delCHPKVPEPCHPKVPEPCQPKVPEP(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2)	9	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCTGCCAGCCCAAGGTTCCAG	0.617																																						ENST00000307098.4																			1	Deletion - In frame(1)	p.C41_P64delCHPKVPEPCHPKVPEPCQPKVPEP(1)	ovary(1)	breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2)	9						c.(175-177)ccC>ccA		small proline-rich protein 1B							108.0	109.0	109.0					1																	153004998		2203	4298	6501	SO:0001819	synonymous_variant	6699				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	g.chr1:153004998C>A	M84757	CCDS30863.1	1q21-q22	2010-06-25	2010-06-25		ENSG00000169469	ENSG00000169469			11260	protein-coding gene	gene with protein product	"""cornifin"""	182266		SPRR1		8325635, 1438308	Standard	NM_003125		Approved	GADD33	uc001fba.3	P22528	OTTHUMG00000013869	ENST00000307098.4:c.177C>A	1.37:g.153004998C>A						SPRR1B_ENST00000392661.3_Intron	p.P59P	NM_003125.2	NP_003116.2	P22528	SPR1B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	242	+	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		59			6 X 8 AA approximate tandem repeats.		B2R5H7|P22529|P22530|Q5T524	Silent	SNP	ENST00000307098.4	37	c.177C>A	CCDS30863.1																																																																																				0.617	SPRR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038906.1	NM_003125		34	195	1	0	4.11147e-13	1	5.38889e-13	34	195				
GRID1	2894	broad.mit.edu	37	10	87362341	87362341	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:87362341C>T	ENST00000327946.7	-	16	2804	c.2719G>A	c.(2719-2721)Ggc>Agc	p.G907S	RP11-93H12.2_ENST00000443311.1_RNA|GRID1_ENST00000552278.2_5'UTR|GRID1_ENST00000536331.1_Missense_Mutation_p.G478S	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	907					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						GGAGCCAGGCCCCCCATCTCC	0.617										Multiple Myeloma(13;0.14)																												ENST00000327946.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						c.(2719-2721)Ggc>Agc		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						40.0	36.0	37.0					10																	87362341		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87362341C>T	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2719G>A	10.37:g.87362341C>T	ENSP00000330148:p.Gly907Ser	Multiple Myeloma(13;0.14)				GRID1_ENST00000552278.2_5'UTR|GRID1_ENST00000536331.1_Missense_Mutation_p.G478S	p.G907S	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN			16	2804	-			907					B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.2719G>A	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.260861	0.39995	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.13089	2.84;2.62	5.74	5.74	0.90152	.	0.128526	0.64402	D	0.000001	T	0.11196	0.0273	L	0.31664	0.95	0.54753	D	0.999984	B	0.15930	0.015	B	0.12837	0.008	T	0.08911	-1.0699	10	0.05959	T	0.93	.	18.8961	0.92424	0.0:1.0:0.0:0.0	.	907	Q9ULK0	GRID1_HUMAN	S	907;478	ENSP00000330148:G907S;ENSP00000444455:G478S	ENSP00000330148:G907S	G	-	1	0	GRID1	87352321	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.891000	0.56227	2.703000	0.92315	0.591000	0.81541	GGC		0.617	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		6	43	0	0	0	1	0	6	43				
FASTK	10922	broad.mit.edu	37	7	150776769	150776769	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:150776769T>G	ENST00000297532.6	-	2	400	c.323A>C	c.(322-324)aAg>aCg	p.K108T	FASTK_ENST00000482571.1_Missense_Mutation_p.K108T|FASTK_ENST00000540185.1_Missense_Mutation_p.K74T|FASTK_ENST00000353841.2_Intron|FASTK_ENST00000489884.1_Intron	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	108					apoptotic signaling pathway (GO:0097190)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|Fas-activated serine/threonine kinase activity (GO:0033867)|protein serine/threonine kinase activity (GO:0004674)			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		GGCGCGCACCTTGCTGGGGTT	0.687																																						ENST00000540185.1																			0				lung(4)|stomach(2)	6						c.(220-222)aAg>aCg		Fas-activated serine/threonine kinase							18.0	20.0	20.0					7																	150776769		2199	4298	6497	SO:0001583	missense	10922				apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding	g.chr7:150776769T>G		CCDS5918.1, CCDS5919.1, CCDS59088.1	7q35	2006-07-06			ENSG00000164896	ENSG00000164896			24676	protein-coding gene	gene with protein product		606965				7544399, 15572676	Standard	NM_006712		Approved	FAST	uc003wix.2	Q14296	OTTHUMG00000158694	ENST00000297532.6:c.323A>C	7.37:g.150776769T>G	ENSP00000297532:p.Lys108Thr					FASTK_ENST00000489884.1_Intron|FASTK_ENST00000353841.2_Intron|FASTK_ENST00000297532.6_Missense_Mutation_p.K108T|FASTK_ENST00000482571.1_Missense_Mutation_p.K108T	p.K74T			Q14296	FASTK_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)	2	825	-			108					A8K867|F8VTW9|Q59EM8|Q8IVA0	Missense_Mutation	SNP	ENST00000297532.6	37	c.221A>C	CCDS5918.1	.	.	.	.	.	.	.	.	.	.	T	17.36	3.369735	0.61624	.	.	ENSG00000164896	ENST00000483105;ENST00000297530;ENST00000297532;ENST00000482571;ENST00000540185	T;T;T	0.52983	0.64;0.64;0.64	3.96	3.96	0.45880	.	0.747980	0.11860	N	0.522453	T	0.56217	0.1970	L	0.29908	0.895	0.49915	D	0.999838	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.85130	0.996;0.997;0.991	T	0.55082	-0.8196	10	0.66056	D	0.02	-8.1242	11.1173	0.48268	0.0:0.0:0.0:1.0	.	74;108;108	G3V1R6;F8VTW9;Q14296	.;.;FASTK_HUMAN	T	108;108;108;108;74	ENSP00000297532:K108T;ENSP00000418516:K108T;ENSP00000444498:K74T	ENSP00000297530:K108T	K	-	2	0	FASTK	150407702	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	6.095000	0.71439	2.012000	0.59069	0.533000	0.62120	AAG		0.687	FASTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351832.2	NM_006712		6	19	0	0	0	1	0	6	19				
CDH22	64405	broad.mit.edu	37	20	44839167	44839167	+	Silent	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr20:44839167G>C	ENST00000372262.3	-	6	1465	c.1065C>G	c.(1063-1065)acC>acG	p.T355T	CDH22_ENST00000474438.1_5'UTR|CDH22_ENST00000537909.1_Silent_p.T355T	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	355	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CCAGGATCACGGTGTGCACGG	0.682																																						ENST00000372262.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44						c.(1063-1065)acC>acG		cadherin 22, type 2							42.0	40.0	41.0					20																	44839167		2202	4300	6502	SO:0001819	synonymous_variant	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44839167G>C	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.1065C>G	20.37:g.44839167G>C						CDH22_ENST00000474438.1_5'UTR|CDH22_ENST00000537909.1_Silent_p.T355T	p.T355T	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN			6	1465	-		Myeloproliferative disorder(115;0.0122)	355			Cadherin 3.		B9EGK7|O43205	Silent	SNP	ENST00000372262.3	37	c.1065C>G	CCDS13395.1																																																																																				0.682	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		10	36	0	0	0	1	0	10	36				
ASIC5	51802	broad.mit.edu	37	4	156763500	156763500	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:156763500G>C	ENST00000537611.2	-	6	914	c.868C>G	c.(868-870)Cat>Gat	p.H290D		NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	290					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrogen ion channel activity (GO:0015252)|ligand-gated sodium channel activity (GO:0015280)										TATTCTTGATGAACTGTCTTA	0.388																																						ENST00000537611.2																			0											c.(868-870)Cat>Gat		acid-sensing (proton-gated) ion channel family member 5							88.0	83.0	85.0					4																	156763500		2203	4300	6503	SO:0001583	missense	51802					integral to membrane|plasma membrane		g.chr4:156763500G>C	AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394			17537	protein-coding gene	gene with protein product			"""amiloride-sensitive cation channel 5, intestinal"""	ACCN5		10767424	Standard	NM_017419		Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.868C>G	4.37:g.156763500G>C	ENSP00000442477:p.His290Asp						p.H290D	NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN			6	914	-			290						Missense_Mutation	SNP	ENST00000537611.2	37	c.868C>G	CCDS3793.1	.	.	.	.	.	.	.	.	.	.	G	3.783	-0.045156	0.07452	.	.	ENSG00000256394	ENST00000537611	T	0.62105	0.05	4.44	2.49	0.30216	.	26.386800	0.00166	N	0.000010	T	0.62575	0.2439	L	0.57536	1.79	0.29335	N	0.866382	B	0.02656	0.0	B	0.10450	0.005	T	0.48375	-0.9041	10	0.35671	T	0.21	-11.0779	10.9748	0.47459	0.0:0.0:0.4162:0.5838	.	290	Q9NY37	ACCN5_HUMAN	D	290	ENSP00000442477:H290D	ENSP00000264432:H290D	H	-	1	0	ACCN5	156982950	0.998000	0.40836	0.985000	0.45067	0.997000	0.91878	2.198000	0.42705	1.145000	0.42336	0.650000	0.86243	CAT		0.388	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366464.1			20	58	0	0	0	1	0	20	58				
ARL6IP6	151188	broad.mit.edu	37	2	153575218	153575218	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:153575218C>T	ENST00000326446.5	+	1	791	c.80C>T	c.(79-81)tCg>tTg	p.S27L	PRPF40A_ENST00000486100.1_5'Flank|PRPF40A_ENST00000410080.1_5'Flank	NM_152522.5	NP_689735.1	Q8N6S5	AR6P6_HUMAN	ADP-ribosylation factor-like 6 interacting protein 6	27						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	5						GCTCGGCCATCGTATTCCTCC	0.677																																						ENST00000326446.5																			0				kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	5						c.(79-81)tCg>tTg		ADP-ribosylation-like factor 6 interacting protein 6							16.0	22.0	20.0					2																	153575218		2163	4265	6428	SO:0001583	missense	151188					integral to membrane		g.chr2:153575218C>T	AK023109	CCDS2197.1	2q23	2014-05-12	2014-05-12		ENSG00000177917	ENSG00000177917			24048	protein-coding gene	gene with protein product							Standard	NM_152522		Approved	MGC33864	uc002tyn.3	Q8N6S5	OTTHUMG00000131901	ENST00000326446.5:c.80C>T	2.37:g.153575218C>T	ENSP00000315357:p.Ser27Leu						p.S27L	NM_152522.5	NP_689735.1	Q8N6S5	AR6P6_HUMAN			1	791	+			27					B2RDS6|Q7Z4G7	Missense_Mutation	SNP	ENST00000326446.5	37	c.80C>T	CCDS2197.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.329924	0.24167	.	.	ENSG00000177917	ENST00000326446	.	.	.	4.41	-8.83	0.00806	.	3.388260	0.00837	N	0.001703	T	0.14960	0.0361	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19844	-1.0293	9	0.52906	T	0.07	9.7988	0.809	0.01089	0.2369:0.111:0.2406:0.4116	.	27	Q8N6S5	AR6P6_HUMAN	L	27	.	ENSP00000315357:S27L	S	+	2	0	ARL6IP6	153283464	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.829000	0.04415	-3.506000	0.00150	-1.157000	0.01802	TCG		0.677	ARL6IP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254852.3	NM_152522		13	64	0	0	0	1	0	13	64				
ERP29	10961	broad.mit.edu	37	12	112451279	112451279	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:112451279G>A	ENST00000261735.3	+	1	160	c.10G>A	c.(10-12)Gct>Act	p.A4T	TMEM116_ENST00000355445.3_5'Flank|ERP29_ENST00000455836.1_Missense_Mutation_p.A4T|TMEM116_ENST00000549537.2_5'Flank|TMEM116_ENST00000354825.3_5'Flank|TMEM116_ENST00000552374.2_5'Flank|TMEM116_ENST00000550831.3_5'Flank|TMEM116_ENST00000552839.2_5'Flank|TMEM116_ENST00000437003.2_5'Flank	NM_006817.3	NP_006808.1	P30040	ERP29_HUMAN	endoplasmic reticulum protein 29	4					intracellular protein transport (GO:0006886)|protein folding (GO:0006457)|protein secretion (GO:0009306)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein disulfide isomerase activity (GO:0003756)			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						TATGGCTGCCGCTGTGCCCCG	0.682																																						ENST00000261735.3																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						c.(10-12)Gct>Act		endoplasmic reticulum protein 29							51.0	56.0	54.0					12																	112451279		2203	4300	6503	SO:0001583	missense	10961				intracellular protein transport|protein folding|protein secretion	endoplasmic reticulum lumen|melanosome	protein disulfide isomerase activity	g.chr12:112451279G>A	X94910	CCDS9158.1, CCDS44977.1	12q24.13	2011-10-19	2005-10-05	2005-10-05		ENSG00000089248		"""Protein disulfide isomerases"""	13799	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 9"""	602287	"""chromosome 12 open reading frame 8"""	C12orf8		9738895, 9037184	Standard	NM_006817		Approved	ERp28, ERp31, ERp29, PDI-DB, PDIA9	uc001ttk.1	P30040	OTTHUMG00000169637	ENST00000261735.3:c.10G>A	12.37:g.112451279G>A	ENSP00000261735:p.Ala4Thr					ERP29_ENST00000455836.1_Missense_Mutation_p.A4T	p.A4T	NM_006817.3	NP_006808.1	P30040	ERP29_HUMAN			1	160	+			4					C9J183|Q3MJC3|Q6FHT4	Missense_Mutation	SNP	ENST00000261735.3	37	c.10G>A	CCDS9158.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.022130	0.54576	.	.	ENSG00000089248	ENST00000261735;ENST00000455836	.	.	.	4.65	1.66	0.24008	.	0.731677	0.11983	N	0.510564	T	0.30166	0.0756	N	0.08118	0	0.80722	D	1	B;B	0.21753	0.06;0.002	B;B	0.20384	0.029;0.001	T	0.06250	-1.0837	9	0.62326	D	0.03	-14.8436	6.6079	0.22735	0.0845:0.0:0.5989:0.3166	.	4;4	C9J183;P30040	.;ERP29_HUMAN	T	4	.	ENSP00000261735:A4T	A	+	1	0	ERP29	110935662	0.221000	0.23642	0.612000	0.29024	0.060000	0.15804	0.757000	0.26433	0.156000	0.19299	0.467000	0.42956	GCT		0.682	ERP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405200.1			15	74	0	0	0	1	0	15	74				
PRKCG	5582	broad.mit.edu	37	19	54394954	54394954	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:54394954A>G	ENST00000263431.3	+	6	838	c.556A>G	c.(556-558)Atg>Gtg	p.M186V	PRKCG_ENST00000536044.1_Missense_Mutation_p.M186V|PRKCG_ENST00000540413.1_Missense_Mutation_p.M186V|PRKCG_ENST00000542049.1_Missense_Mutation_p.M73V	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	186	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	CCTAATTCCTATGGACCCCAA	0.557																																						ENST00000263431.3																			0				large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10						c.(556-558)Atg>Gtg		protein kinase C, gamma							140.0	131.0	134.0					19																	54394954		2203	4300	6503	SO:0001583	missense	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54394954A>G	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.556A>G	19.37:g.54394954A>G	ENSP00000263431:p.Met186Val					PRKCG_ENST00000542049.1_Missense_Mutation_p.M73V|PRKCG_ENST00000540413.1_Missense_Mutation_p.M186V|PRKCG_ENST00000536044.1_Missense_Mutation_p.M186V	p.M186V	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	6	838	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		186			C2.		B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	c.556A>G	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.293644	0.80914	.	.	ENSG00000126583	ENST00000536044;ENST00000540413;ENST00000263431;ENST00000542049	T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52	5.34	5.34	0.76211	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	T	0.81621	0.4861	M	0.68728	2.09	0.53688	D	0.999978	P;P;D;D;P	0.76494	0.857;0.946;0.999;0.991;0.772	P;P;D;P;P	0.70227	0.868;0.536;0.968;0.839;0.6	D	0.83578	0.0116	9	0.72032	D	0.01	.	13.5859	0.61931	1.0:0.0:0.0:0.0	.	73;186;186;186;186	B7Z8Q0;F5H5C4;B7Z870;B7Z3W6;P05129	.;.;.;.;KPCG_HUMAN	V	186;186;186;73	ENSP00000440541:M186V;ENSP00000443493:M186V;ENSP00000263431:M186V;ENSP00000438090:M73V	ENSP00000263431:M186V	M	+	1	0	PRKCG	59086766	1.000000	0.71417	0.928000	0.36995	0.824000	0.46624	8.648000	0.91062	2.161000	0.67846	0.459000	0.35465	ATG		0.557	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		30	120	0	0	0	1	0	30	120				
CDC14B	8555	broad.mit.edu	37	9	99285990	99285990	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:99285990C>A	ENST00000375241.1	-	10	1415	c.964G>T	c.(964-966)Ggc>Tgc	p.G322C	CDC14B_ENST00000375242.3_Missense_Mutation_p.G285C|CDC14B_ENST00000375236.1_Missense_Mutation_p.G322C|CDC14B_ENST00000481149.1_5'Flank|CDC14B_ENST00000375240.3_Missense_Mutation_p.G322C|CDC14B_ENST00000265659.2_Missense_Mutation_p.G322C|CDC14B_ENST00000463569.1_Missense_Mutation_p.G322C	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	322	B.				activation of anaphase-promoting complex activity (GO:0051488)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				ATCAGAGTGCCCGTGCGACCA	0.498																																						ENST00000375241.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15						c.(964-966)Ggc>Tgc		cell division cycle 14B							54.0	47.0	50.0					9																	99285990		2203	4300	6503	SO:0001583	missense	8555				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:99285990C>A	AF023158	CCDS6721.1, CCDS6722.1, CCDS43853.1	9q22.3	2013-01-17	2013-01-17		ENSG00000081377	ENSG00000081377		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1719	protein-coding gene	gene with protein product		603505	"""CDC14 (cell division cycle 14, S. cerevisiae) homolog B"", ""CDC14 cell division cycle 14 homolog B (S. cerevisiae)"""			9367992	Standard	NM_003671		Approved	Cdc14B1, Cdc14B2, CDC14B3, hCDC14B	uc004awj.3	O60729	OTTHUMG00000020300	ENST00000375241.1:c.964G>T	9.37:g.99285990C>A	ENSP00000364389:p.Gly322Cys					CDC14B_ENST00000463569.1_Missense_Mutation_p.G322C|CDC14B_ENST00000375236.1_Missense_Mutation_p.G322C|CDC14B_ENST00000375240.3_Missense_Mutation_p.G322C|CDC14B_ENST00000375242.3_Missense_Mutation_p.G285C|CDC14B_ENST00000265659.2_Missense_Mutation_p.G322C	p.G322C	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN			10	1415	-		Acute lymphoblastic leukemia(62;0.0559)	322			B.		A6N5X8|A8MQ20|B1AL31|B1AL32|O43183|O60730|Q5JU08	Missense_Mutation	SNP	ENST00000375241.1	37	c.964G>T	CCDS6722.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.560777	0.86335	.	.	ENSG00000081377	ENST00000265659;ENST00000375241;ENST00000375240;ENST00000375242;ENST00000463569;ENST00000375236	T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05	5.34	5.34	0.76211	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.81432	0.4821	H	0.99379	4.54	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	D	0.89075	0.3472	10	0.87932	D	0	-11.2794	19.5946	0.95530	0.0:1.0:0.0:0.0	.	322;322;285	O60729-2;O60729;A8MQ20	.;CC14B_HUMAN;.	C	322;322;322;285;322;322	ENSP00000265659:G322C;ENSP00000364389:G322C;ENSP00000364388:G322C;ENSP00000364390:G285C;ENSP00000420572:G322C;ENSP00000364384:G322C	ENSP00000265659:G322C	G	-	1	0	CDC14B	98325811	1.000000	0.71417	0.977000	0.42913	0.885000	0.51271	7.609000	0.82925	2.937000	0.99478	0.650000	0.86243	GGC		0.498	CDC14B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053278.2	NM_033331		22	55	1	0	1.50039e-11	1	1.91139e-11	22	55				
SLITRK4	139065	broad.mit.edu	37	X	142718630	142718630	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chrX:142718630C>T	ENST00000381779.4	-	2	520	c.295G>A	c.(295-297)Gag>Aag	p.E99K	SLITRK4_ENST00000356928.1_Missense_Mutation_p.E99K|SLITRK4_ENST00000338017.4_Missense_Mutation_p.E99K	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	99						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					GCTCCTCCCTCAATGTTCTGC	0.373																																						ENST00000381779.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60						c.(295-297)Gag>Aag		SLIT and NTRK-like family, member 4							62.0	61.0	61.0					X																	142718630		2203	4300	6503	SO:0001583	missense	139065					integral to membrane		g.chrX:142718630C>T	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.295G>A	X.37:g.142718630C>T	ENSP00000371198:p.Glu99Lys					SLITRK4_ENST00000338017.4_Missense_Mutation_p.E99K|SLITRK4_ENST00000356928.1_Missense_Mutation_p.E99K	p.E99K	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN			2	520	-	Acute lymphoblastic leukemia(192;6.56e-05)		99					Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	c.295G>A	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.321862	0.60634	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.53206	0.63;0.63;0.63	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.41419	0.1158	L	0.41573	1.285	0.80722	D	1	B	0.28900	0.227	B	0.24006	0.05	T	0.24297	-1.0164	10	0.41790	T	0.15	-11.446	17.0458	0.86502	0.0:1.0:0.0:0.0	.	99	Q8IW52	SLIK4_HUMAN	K	99	ENSP00000371198:E99K;ENSP00000349400:E99K;ENSP00000336627:E99K	ENSP00000336627:E99K	E	-	1	0	SLITRK4	142546296	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.886000	0.63149	2.345000	0.79718	0.600000	0.82982	GAG		0.373	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		51	78	0	0	0	1	0	51	78				
C7	730	broad.mit.edu	37	5	40979957	40979957	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:40979957C>A	ENST00000313164.9	+	17	2655	c.2296C>A	c.(2296-2298)Cct>Act	p.P766T	C7_ENST00000494960.1_3'UTR	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	766	Factor I module (FIM) 1.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				CTGTACTCTGCCTGCCTCAGC	0.468																																						ENST00000313164.9																			0											c.(2296-2298)Cct>Act		complement component 7							65.0	66.0	65.0					5																	40979957		1969	4155	6124	SO:0001583	missense	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40979957C>A	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.2296C>A	5.37:g.40979957C>A	ENSP00000322061:p.Pro766Thr					C7_ENST00000494960.1_3'UTR	p.P766T	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN			17	2655	+		Ovarian(839;0.0112)	766			Complement control factor I module 1.		Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	c.2296C>A	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.503199	0.64298	.	.	ENSG00000112936	ENST00000313164	T	0.62788	0.0	5.88	5.02	0.67125	.	0.126888	0.53938	D	0.000052	T	0.64538	0.2607	M	0.68317	2.08	0.29815	N	0.831335	P	0.34662	0.462	B	0.39590	0.304	T	0.65364	-0.6186	10	0.40728	T	0.16	-6.7071	14.5369	0.67966	0.0:0.9293:0.0:0.0707	.	766	P10643	CO7_HUMAN	T	766	ENSP00000322061:P766T	ENSP00000322061:P766T	P	+	1	0	C7	41015714	0.028000	0.19301	0.468000	0.27192	0.992000	0.81027	2.005000	0.40864	1.499000	0.48617	0.557000	0.71058	CCT		0.468	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			6	41	1	0	2.7689e-08	1	3.2886e-08	6	41				
RBM46	166863	broad.mit.edu	37	4	155719122	155719122	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:155719122C>G	ENST00000281722.3	+	3	546	c.311C>G	c.(310-312)gCt>gGt	p.A104G	RBM46_ENST00000514866.1_Missense_Mutation_p.A104G|RBM46_ENST00000510397.1_Missense_Mutation_p.A104G	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	104	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				CGAGGTTATGCTTTTGTGATG	0.348																																						ENST00000510397.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26						c.(310-312)gCt>gGt		RNA binding motif protein 46							117.0	121.0	120.0					4																	155719122		2203	4300	6503	SO:0001583	missense	166863						nucleotide binding|RNA binding	g.chr4:155719122C>G	BC028588	CCDS3790.1, CCDS64085.1, CCDS64086.1	4q32.1	2013-02-12				ENSG00000151962		"""RNA binding motif (RRM) containing"""	28401	protein-coding gene	gene with protein product	"""cancer/testis antigen 68"""					12477932	Standard	NM_144979		Approved	MGC27016, CT68	uc003ioo.4	Q8TBY0		ENST00000281722.3:c.311C>G	4.37:g.155719122C>G	ENSP00000281722:p.Ala104Gly					RBM46_ENST00000281722.3_Missense_Mutation_p.A104G|RBM46_ENST00000514866.1_Missense_Mutation_p.A104G	p.A104G	NM_001277173.1	NP_001264102.1	Q8TBY0	RBM46_HUMAN			3	490	+	all_hematologic(180;0.24)	Renal(120;0.0854)	104			RRM 1.		B3KWU8|B4DZ27	Missense_Mutation	SNP	ENST00000281722.3	37	c.311C>G	CCDS3790.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088145	0.76642	.	.	ENSG00000151962	ENST00000514866;ENST00000281722;ENST00000510397;ENST00000512640	T;T;T;T	0.55413	3.09;0.52;3.09;0.52	5.9	5.9	0.94986	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.56587	0.1995	L	0.33668	1.02	0.80722	D	1	P;P;P	0.41131	0.739;0.576;0.576	P;P;P	0.48873	0.516;0.593;0.593	T	0.52895	-0.8514	10	0.46703	T	0.11	-21.4998	20.2723	0.98479	0.0:1.0:0.0:0.0	.	104;104;104	B4DZ27;B3KWU8;Q8TBY0	.;.;RBM46_HUMAN	G	104	ENSP00000424500:A104G;ENSP00000281722:A104G;ENSP00000422813:A104G;ENSP00000426672:A104G	ENSP00000281722:A104G	A	+	2	0	RBM46	155938572	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.656000	0.83736	2.793000	0.96121	0.563000	0.77884	GCT		0.348	RBM46-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365259.1	NM_144979		28	100	0	0	0	1	0	28	100				
COX10	1352	broad.mit.edu	37	17	14110158	14110158	+	Silent	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:14110158C>A	ENST00000261643.3	+	7	1037	c.960C>A	c.(958-960)tcC>tcA	p.S320S	COX10_ENST00000537334.1_Silent_p.S103S|COX10_ENST00000536205.1_Silent_p.S128S	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	320					aerobic respiration (GO:0009060)|cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|heme O biosynthetic process (GO:0048034)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|mitochondrial fission (GO:0000266)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	farnesyltranstransferase activity (GO:0004311)|protoheme IX farnesyltransferase activity (GO:0008495)			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		TCCTCTACTCCTGGCAGTTTC	0.587																																						ENST00000261643.3																			0				cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(958-960)tcC>tcA		cytochrome c oxidase assembly homolog 10 (yeast)							61.0	68.0	65.0					17																	14110158		2203	4300	6503	SO:0001819	synonymous_variant	1352				heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity	g.chr17:14110158C>A	U09466	CCDS11166.1	17p12	2013-05-24	2012-10-15		ENSG00000006695	ENSG00000006695		"""Mitochondrial respiratory chain complex assembly factors"""	2260	protein-coding gene	gene with protein product	"""heme A: farnesyltransferase"", ""protoheme IX farnesyltransferase, mitochondrial"", ""heme O synthase"""	602125	"""COX10 (yeast) homolog, cytochrome c oxidase assembly protein (heme A: farnesyltransferase)"", ""COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)"""			9177788, 12928484	Standard	NM_001303		Approved		uc002gof.4	Q12887	OTTHUMG00000058814	ENST00000261643.3:c.960C>A	17.37:g.14110158C>A						COX10_ENST00000537334.1_Silent_p.S103S|COX10_ENST00000536205.1_Silent_p.S128S	p.S320S	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)	7	1037	+		all_lung(20;0.06)|Lung SC(565;0.168)	320					B2R6U5|B4DJ50|O15334|Q969F7	Silent	SNP	ENST00000261643.3	37	c.960C>A	CCDS11166.1																																																																																				0.587	COX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130003.1	NM_001303		25	103	1	0	5.45024e-15	1	7.35592e-15	25	103				
MYO18A	399687	broad.mit.edu	37	17	27434126	27434126	+	Missense_Mutation	SNP	C	C	G	rs201424686		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:27434126C>G	ENST00000527372.1	-	20	3593	c.3413G>C	c.(3412-3414)cGt>cCt	p.R1138P	MYO18A_ENST00000533112.1_Missense_Mutation_p.R1138P|MYO18A_ENST00000354329.4_Missense_Mutation_p.R1138P|MYO18A_ENST00000531253.1_Missense_Mutation_p.R1138P	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1138	Myosin motor.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GATGTAGTTACGCCCGTGTTT	0.602																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	ENST00000527372.1																			0				NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36						c.(3412-3414)cGt>cCt		myosin XVIIIA							129.0	136.0	134.0					17																	27434126		2044	4185	6229	SO:0001583	missense	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27434126C>G	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.3413G>C	17.37:g.27434126C>G	ENSP00000437073:p.Arg1138Pro					MYO18A_ENST00000354329.4_Missense_Mutation_p.R1138P|MYO18A_ENST00000533112.1_Missense_Mutation_p.R1138P|MYO18A_ENST00000531253.1_Missense_Mutation_p.R1138P	p.R1138P	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		20	3593	-			1138			Myosin head-like.		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	c.3413G>C	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.464463	0.84425	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428	D;D;D;D	0.88664	-2.3;-2.41;-2.3;-2.3	4.92	3.95	0.45737	Myosin head, motor domain (2);	0.047882	0.85682	D	0.000000	D	0.89822	0.6826	L	0.29908	0.895	0.40034	D	0.975561	B;D;D;D;P	0.89917	0.058;1.0;1.0;1.0;0.793	B;D;D;D;B	0.91635	0.068;0.999;0.999;0.999;0.405	D	0.87861	0.2664	10	0.26408	T	0.33	.	13.5211	0.61568	0.0:0.9237:0.0:0.0763	.	807;750;1138;1138;1138	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	P	1138;1138;1138;1138;1138;34;34;750	ENSP00000346291:R1138P;ENSP00000435932:R1138P;ENSP00000434228:R1138P;ENSP00000437073:R1138P	ENSP00000346291:R1138P	R	-	2	0	MYO18A	24458252	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	4.556000	0.60775	1.210000	0.43336	0.455000	0.32223	CGT		0.602	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		17	77	0	0	0	1	0	17	77				
PCDHB14	56122	broad.mit.edu	37	5	140604402	140604402	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:140604402C>G	ENST00000239449.4	+	1	1325	c.1325C>G	c.(1324-1326)tCt>tGt	p.S442C	PCDHB14_ENST00000515856.2_Missense_Mutation_p.S289C	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	442	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGCTGCTCTCTGACGTCAAT	0.587																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49						c.(1324-1326)tCt>tGt									157.0	149.0	152.0					5																	140604402		2203	4300	6503	SO:0001583	missense	56122				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140604402C>G	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1325C>G	5.37:g.140604402C>G	ENSP00000239449:p.Ser442Cys					PCDHB14_ENST00000515856.2_Missense_Mutation_p.S289C	p.S442C	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1325	+			442			Cadherin 4.		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.1325C>G	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	7.727	0.698333	0.15106	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.01871	4.59;4.59	4.5	4.5	0.54988	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.17662	0.0424	H	0.98980	4.39	0.20307	N	0.999913	D	0.53885	0.963	P	0.53861	0.736	T	0.37337	-0.9710	9	0.87932	D	0	.	10.8998	0.47045	0.0:0.9119:0.0:0.0881	.	442	Q9Y5E9	PCDBE_HUMAN	C	289;442	ENSP00000444518:S289C;ENSP00000239449:S442C	ENSP00000239449:S442C	S	+	2	0	PCDHB14	140584586	0.376000	0.25098	0.766000	0.31476	0.022000	0.10575	3.106000	0.50322	2.235000	0.73313	0.556000	0.70494	TCT		0.587	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		57	193	0	0	0	1	0	57	193				
SCARF1	8578	broad.mit.edu	37	17	1540343	1540343	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:1540343C>T	ENST00000263071.4	-	9	1427	c.1378G>A	c.(1378-1380)Gga>Aga	p.G460R	SCARF1_ENST00000571272.1_Missense_Mutation_p.G460R|SCARF1_ENST00000348987.3_Missense_Mutation_p.G374R	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	460					cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		ACGGTAGCTCCATCTCTCGCT	0.632																																						ENST00000263071.4																			0				cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1378-1380)Gga>Aga		scavenger receptor class F, member 1							75.0	60.0	65.0					17																	1540343		2203	4300	6503	SO:0001583	missense	8578				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity	g.chr17:1540343C>T	D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"""scavenger receptor expressed by endothelial cells"", ""acetyl LDL receptor"""	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.1378G>A	17.37:g.1540343C>T	ENSP00000263071:p.Gly460Arg					SCARF1_ENST00000571272.1_Missense_Mutation_p.G460R|SCARF1_ENST00000348987.3_Missense_Mutation_p.G374R	p.G460R	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	9	1427	-			460					A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Missense_Mutation	SNP	ENST00000263071.4	37	c.1378G>A	CCDS11007.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.924108	0.34002	.	.	ENSG00000074660	ENST00000263071;ENST00000348987;ENST00000434376	T;T	0.37915	1.17;1.17	5.48	3.48	0.39840	.	0.305296	0.23563	N	0.046829	T	0.30198	0.0757	L	0.41824	1.3	0.38133	D	0.938201	B;P;P	0.36990	0.36;0.502;0.577	B;B;B	0.34385	0.181;0.128;0.13	T	0.05767	-1.0865	10	0.38643	T	0.18	-0.5058	15.0689	0.72017	0.0:0.87:0.0:0.13	.	374;460;460	Q14162-2;Q14162;Q14162-3	.;SREC_HUMAN;.	R	460;374;460	ENSP00000263071:G460R;ENSP00000323964:G374R	ENSP00000263071:G460R	G	-	1	0	SCARF1	1487093	0.921000	0.31238	0.003000	0.11579	0.002000	0.02628	3.522000	0.53480	0.298000	0.22638	-1.157000	0.01802	GGA		0.632	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207081.4	NM_003693		21	74	0	0	0	1	0	21	74				
DNAH7	56171	broad.mit.edu	37	2	196771688	196771688	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:196771688T>C	ENST00000312428.6	-	26	4250	c.4150A>G	c.(4150-4152)Aga>Gga	p.R1384G		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1384	AAA 1. {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)			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						AAATCAATTCTGTTAAACTCA	0.348																																						ENST00000312428.6																			0				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.(4150-4152)Aga>Gga		dynein, axonemal, heavy chain 7							92.0	83.0	86.0					2																	196771688		1859	4098	5957	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196771688T>C	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.4150A>G	2.37:g.196771688T>C	ENSP00000311273:p.Arg1384Gly						p.R1384G	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			26	4250	-			1384			AAA 1 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.4150A>G	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	T	19.75	3.886531	0.72410	.	.	ENSG00000118997	ENST00000312428	T	0.14766	2.48	4.97	4.97	0.65823	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.56906	0.2017	H	0.99211	4.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76484	-0.2942	10	0.87932	D	0	.	14.4682	0.67497	0.0:0.0:0.0:1.0	.	1384	Q8WXX0	DYH7_HUMAN	G	1384	ENSP00000311273:R1384G	ENSP00000311273:R1384G	R	-	1	2	DNAH7	196479933	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.337000	0.65941	2.083000	0.62718	0.455000	0.32223	AGA		0.348	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		18	64	0	0	0	1	0	18	64				
ZNF184	7738	broad.mit.edu	37	6	27419525	27419525	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:27419525T>C	ENST00000211936.6	-	6	2097	c.1813A>G	c.(1813-1815)Aag>Gag	p.K605E	ZNF184_ENST00000377419.1_Missense_Mutation_p.K605E	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	605					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TGAATTCTCTTATGCTGTGTA	0.423																																						ENST00000211936.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(1813-1815)Aag>Gag		zinc finger protein 184							189.0	170.0	177.0					6																	27419525		2203	4300	6503	SO:0001583	missense	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27419525T>C	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.1813A>G	6.37:g.27419525T>C	ENSP00000211936:p.Lys605Glu					ZNF184_ENST00000377419.1_Missense_Mutation_p.K605E	p.K605E	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN			6	2097	-			605					B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	c.1813A>G	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	T	14.97	2.694509	0.48202	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.07567	3.18;3.18	5.18	4.01	0.46588	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.52532	D	0.000080	T	0.02970	0.0088	L	0.39397	1.21	0.24520	N	0.994165	B	0.19445	0.036	B	0.20184	0.028	T	0.27536	-1.0071	10	0.62326	D	0.03	.	9.1142	0.36746	0.0:0.0:0.2885:0.7114	.	605	Q99676	ZN184_HUMAN	E	605;605;521	ENSP00000211936:K605E;ENSP00000366636:K605E	ENSP00000211936:K605E	K	-	1	0	ZNF184	27527504	0.585000	0.26774	0.940000	0.37924	0.988000	0.76386	1.924000	0.40065	2.176000	0.68965	0.482000	0.46254	AAG		0.423	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		78	78	0	0	0	1	0	78	78				
TBC1D32	221322	broad.mit.edu	37	6	121563410	121563410	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:121563410T>A	ENST00000398212.2	-	18	2143	c.2094A>T	c.(2092-2094)caA>caT	p.Q698H	TBC1D32_ENST00000275159.6_Missense_Mutation_p.Q698H	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	698					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										CACCTGTTCTTTGAAGAAGTA	0.343																																						ENST00000275159.6																			0											c.(2092-2094)caA>caT		TBC1 domain family, member 32							104.0	99.0	100.0					6																	121563410		1833	4090	5923	SO:0001583	missense	221322							g.chr6:121563410T>A	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.2094A>T	6.37:g.121563410T>A	ENSP00000381270:p.Gln698His					TBC1D32_ENST00000398212.2_Missense_Mutation_p.Q698H	p.Q698H							18	2093	-								Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	c.2094A>T	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	T	12.15	1.852306	0.32699	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.23754	1.89;1.89	5.0	-0.549	0.11829	.	0.065490	0.64402	D	0.000007	T	0.08179	0.0204	L	0.45137	1.4	0.37793	D	0.927445	B;B	0.22604	0.01;0.072	B;B	0.26094	0.009;0.066	T	0.08785	-1.0705	10	0.46703	T	0.11	.	5.9348	0.19158	0.1242:0.3664:0.0:0.5095	.	698;698	Q96NH3-4;Q96NH3	.;BROMI_HUMAN	H	698	ENSP00000275159:Q698H;ENSP00000381270:Q698H	ENSP00000275159:Q698H	Q	-	3	2	C6orf170	121605109	0.997000	0.39634	0.999000	0.59377	0.984000	0.73092	0.430000	0.21428	0.041000	0.15688	-0.386000	0.06593	CAA		0.343	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		24	70	0	0	0	1	0	24	70				
HSF5	124535	broad.mit.edu	37	17	56540660	56540660	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:56540660G>A	ENST00000323777.3	-	4	1134	c.1025C>T	c.(1024-1026)cCt>cTt	p.P342L		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	342					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGCATTGAAGGATTCTGGGA	0.358																																						ENST00000323777.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16						c.(1024-1026)cCt>cTt		heat shock transcription factor family member 5							49.0	53.0	51.0					17																	56540660		2203	4298	6501	SO:0001583	missense	124535					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:56540660G>A	BC033020	CCDS32690.1	17q23.2	2006-04-25				ENSG00000176160			26862	protein-coding gene	gene with protein product							Standard	NM_001080439		Approved	FLJ40311	uc002iwi.1	Q4G112		ENST00000323777.3:c.1025C>T	17.37:g.56540660G>A	ENSP00000313243:p.Pro342Leu						p.P342L	NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN			4	1134	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		342					Q08EH7|Q8N7V2	Missense_Mutation	SNP	ENST00000323777.3	37	c.1025C>T	CCDS32690.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.744472	0.49151	.	.	ENSG00000176160	ENST00000412540;ENST00000323777	T	0.72167	-0.63	5.47	5.47	0.80525	.	0.094899	0.46758	D	0.000264	T	0.61400	0.2344	L	0.27053	0.805	0.51767	D	0.999937	B	0.23377	0.084	B	0.24155	0.051	T	0.61168	-0.7117	10	0.87932	D	0	.	16.0593	0.80830	0.0:0.0:1.0:0.0	.	342	Q4G112	HSF5_HUMAN	L	242;342	ENSP00000313243:P342L	ENSP00000313243:P342L	P	-	2	0	HSF5	53895659	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.077000	0.71275	2.563000	0.86464	0.650000	0.86243	CCT		0.358	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444719.1	XM_064190		23	96	0	0	0	1	0	23	96				
SLCO2A1	6578	broad.mit.edu	37	3	133667522	133667522	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:133667522C>A	ENST00000310926.4	-	8	1236	c.963G>T	c.(961-963)agG>agT	p.R321S	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.R245S	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	321					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)	p.R321R(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	TCATCAGGAGCCTCAGAAAGA	0.582																																						ENST00000310926.4																			1	Substitution - coding silent(1)	p.R321R(1)	large_intestine(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						c.(961-963)agG>agT		solute carrier organic anion transporter family, member 2A1							149.0	144.0	145.0					3																	133667522		2203	4300	6503	SO:0001583	missense	6578				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	g.chr3:133667522C>A		CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.963G>T	3.37:g.133667522C>A	ENSP00000311291:p.Arg321Ser					SLCO2A1_ENST00000493729.1_Missense_Mutation_p.R245S	p.R321S	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN			8	1236	-			321					Q86V98|Q8IUN2	Missense_Mutation	SNP	ENST00000310926.4	37	c.963G>T	CCDS3084.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.775608	0.49786	.	.	ENSG00000174640	ENST00000310926;ENST00000493729	T;T	0.39592	1.07;1.07	5.1	1.0	0.19881	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.352028	0.29972	N	0.010730	T	0.34279	0.0892	L	0.41906	1.305	0.45914	D	0.998759	P;B;B	0.50528	0.936;0.001;0.4	P;B;B	0.46825	0.528;0.008;0.243	T	0.06110	-1.0845	10	0.34782	T	0.22	.	8.1184	0.30957	0.0:0.4998:0.3567:0.1435	.	140;245;321	B7Z8J8;E7EU40;Q92959	.;.;SO2A1_HUMAN	S	321;245	ENSP00000311291:R321S;ENSP00000418893:R245S	ENSP00000311291:R321S	R	-	3	2	SLCO2A1	135150212	0.837000	0.29446	0.978000	0.43139	0.771000	0.43674	1.524000	0.35942	0.643000	0.30638	0.650000	0.86243	AGG		0.582	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630		34	165	1	0	2.68265e-12	1	3.45292e-12	34	165				
SORCS3	22986	broad.mit.edu	37	10	106849541	106849541	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:106849541C>T	ENST00000369701.3	+	6	1264	c.1037C>T	c.(1036-1038)gCc>gTc	p.A346V		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	346					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGGTCGGTGGCCGGATTGGAT	0.577																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(1036-1038)gCc>gTc		sortilin-related VPS10 domain containing receptor 3							104.0	89.0	94.0					10																	106849541		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106849541C>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1037C>T	10.37:g.106849541C>T	ENSP00000358715:p.Ala346Val						p.A346V	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	6	1264	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	346					Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.1037C>T	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.744805	0.49151	.	.	ENSG00000156395	ENST00000369701	T	0.29397	1.57	6.17	6.17	0.99709	VPS10 (1);	0.221914	0.44097	D	0.000485	T	0.24661	0.0598	L	0.27053	0.805	0.27690	N	0.946154	B	0.13594	0.008	B	0.12156	0.007	T	0.08371	-1.0725	10	0.30078	T	0.28	.	16.3795	0.83443	0.0:1.0:0.0:0.0	.	346	Q9UPU3	SORC3_HUMAN	V	346	ENSP00000358715:A346V	ENSP00000358715:A346V	A	+	2	0	SORCS3	106839531	0.953000	0.32496	0.964000	0.40570	0.766000	0.43426	2.312000	0.43726	2.941000	0.99782	0.655000	0.94253	GCC		0.577	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		11	30	0	0	0	1	0	11	30				
TAS2R41	259287	broad.mit.edu	37	7	143175436	143175436	+	Silent	SNP	A	A	G	rs267601367		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:143175436A>G	ENST00000408916.1	+	1	471	c.471A>G	c.(469-471)caA>caG	p.Q157Q	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	157					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CTGTATATCAAGAATTTTTAA	0.438																																						ENST00000408916.1																			0				endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18						c.(469-471)caA>caG		taste receptor, type 2, member 41							43.0	43.0	43.0					7																	143175436		1815	4084	5899	SO:0001819	synonymous_variant	259287				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143175436A>G	AF494232	CCDS43663.1	7q34	2012-08-22			ENSG00000221855	ENSG00000221855		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18883	protein-coding gene	gene with protein product		613965				12379855	Standard	NM_176883		Approved	T2R59	uc003wdc.1	P59536	OTTHUMG00000155892	ENST00000408916.1:c.471A>G	7.37:g.143175436A>G						EPHA1-AS1_ENST00000429289.1_RNA	p.Q157Q	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN			1	471	+	Melanoma(164;0.15)		157					P59550|Q495I2|Q50KJ5|Q50KJ6|Q50KJ7|Q645W7	Silent	SNP	ENST00000408916.1	37	c.471A>G	CCDS43663.1																																																																																				0.438	TAS2R41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342149.1			20	55	0	0	0	1	0	20	55				
OR1C1	26188	broad.mit.edu	37	1	247921267	247921267	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:247921267G>C	ENST00000408896.2	-	1	715	c.442C>G	c.(442-444)Ctg>Gtg	p.L148V		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	148					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			ACAAGCCACAGTCCAGCCACT	0.488																																						ENST00000408896.2																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46						c.(442-444)Ctg>Gtg		olfactory receptor, family 1, subfamily C, member 1							52.0	53.0	53.0					1																	247921267		2017	4193	6210	SO:0001583	missense	26188				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247921267G>C	X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"""GPCR / Class A : Olfactory receptors"""	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.442C>G	1.37:g.247921267G>C	ENSP00000386138:p.Leu148Val						p.L148V	NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	715	-	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	148					B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Missense_Mutation	SNP	ENST00000408896.2	37	c.442C>G	CCDS41481.1	.	.	.	.	.	.	.	.	.	.	G	8.137	0.784336	0.16189	.	.	ENSG00000221888	ENST00000408896	T	0.01304	5.03	3.19	1.24	0.21308	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01092	0.0036	N	0.03084	-0.415	0.09310	N	1	P	0.35656	0.514	B	0.43082	0.407	T	0.50541	-0.8816	9	0.72032	D	0.01	.	4.1259	0.10126	0.3253:0.3009:0.3738:0.0	.	148	Q15619	OR1C1_HUMAN	V	148	ENSP00000386138:L148V	ENSP00000386138:L148V	L	-	1	2	OR1C1	245987890	0.000000	0.05858	0.059000	0.19551	0.596000	0.36781	-0.286000	0.08399	0.192000	0.20272	0.580000	0.79431	CTG		0.488	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1			13	36	0	0	0	1	0	13	36				
NOSIP	51070	broad.mit.edu	37	19	50059064	50059064	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:50059064C>A	ENST00000596358.1	-	9	908	c.850G>T	c.(850-852)Gcg>Tcg	p.A284S	NOSIP_ENST00000391853.3_Missense_Mutation_p.A284S|NOSIP_ENST00000339093.3_Missense_Mutation_p.A287S	NM_001270960.1	NP_001257889.1	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	284					negative regulation of catalytic activity (GO:0043086)|negative regulation of nitric-oxide synthase activity (GO:0051001)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		CCGGAGCCCGCGAAGCCGGTA	0.647																																						ENST00000391853.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11						c.(850-852)Gcg>Tcg		nitric oxide synthase interacting protein							27.0	28.0	28.0					19																	50059064		2201	4297	6498	SO:0001583	missense	51070				negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process	cytosol|nucleus	protein binding	g.chr19:50059064C>A	AF132959	CCDS12772.1	19q13.3	2008-02-05				ENSG00000142546			17946	protein-coding gene	gene with protein product						11149895, 10810093	Standard	NM_015953		Approved	CGI-25	uc002pol.4	Q9Y314		ENST00000596358.1:c.850G>T	19.37:g.50059064C>A	ENSP00000470034:p.Ala284Ser					NOSIP_ENST00000596358.1_Missense_Mutation_p.A284S|NOSIP_ENST00000339093.3_Missense_Mutation_p.A287S	p.A284S	NM_015953.3	NP_057037.1	Q9Y314	NOSIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)	10	1001	-		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	284					Q96FD2	Missense_Mutation	SNP	ENST00000596358.1	37	c.850G>T	CCDS12772.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.838003	0.50951	.	.	ENSG00000142546	ENST00000339093;ENST00000391853	T	0.17370	2.28	5.38	5.38	0.77491	.	0.115627	0.56097	D	0.000023	T	0.16257	0.0391	L	0.35793	1.09	0.58432	D	0.999996	P	0.42203	0.773	B	0.43194	0.411	T	0.02560	-1.1141	10	0.27082	T	0.32	-52.3291	11.6852	0.51481	0.1769:0.8231:0.0:0.0	.	284	Q9Y314	NOSIP_HUMAN	S	284	ENSP00000375726:A284S	ENSP00000343497:A284S	A	-	1	0	NOSIP	54750876	0.996000	0.38824	1.000000	0.80357	0.123000	0.20343	2.439000	0.44846	2.531000	0.85337	0.561000	0.74099	GCG		0.647	NOSIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465423.1			7	40	1	0	2.7689e-08	1	3.2886e-08	7	40				
XIST	7503	broad.mit.edu	37	X	73065586	73065586	+	lincRNA	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chrX:73065586T>A	ENST00000429829.1	-	0	7002					NR_001564.2				X inactive specific transcript (non-protein coding)																		TGCACCTTGATTGTCCAAATG	0.507																																						ENST00000429829.1																			0																				67.0	63.0	64.0					X																	73065586		876	1991	2867			7503							g.chrX:73065586T>A	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73065586T>A								NR_001564.2						0	7002	-									RNA	SNP	ENST00000429829.1	37																																																																																						0.507	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		12	17	0	0	0	1	0	12	17				
SCN1A	6323	broad.mit.edu	37	2	166848149	166848149	+	Missense_Mutation	SNP	C	C	T	rs112244937		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:166848149C>T	ENST00000303395.4	-	26	5635	c.5636G>A	c.(5635-5637)aGt>aAt	p.S1879N	SCN1A_ENST00000409050.1_Missense_Mutation_p.S1851N|SCN1A_ENST00000375405.3_Missense_Mutation_p.S1868N|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.S1879N|AC010127.3_ENST00000597623.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1879					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CATCTCTCCACTCTCTCCTAG	0.453																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(5635-5637)aGt>aAt		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						87.0	80.0	82.0					2																	166848149		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166848149C>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.5636G>A	2.37:g.166848149C>T	ENSP00000303540:p.Ser1879Asn					SCN1A_ENST00000409050.1_Missense_Mutation_p.S1851N|SCN1A_ENST00000375405.3_Missense_Mutation_p.S1868N|SCN1A_ENST00000303395.4_Missense_Mutation_p.S1879N|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA	p.S1879N	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			26	5653	-			1879					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.5636G>A	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.985704	0.93044	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.96554	-4.05;-4.05;-4.0;-3.99	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.98182	0.9399	M	0.85710	2.77	0.45914	D	0.998755	D	0.55385	0.971	P	0.62885	0.908	D	0.98652	1.0680	10	0.87932	D	0	.	19.9823	0.97331	0.0:1.0:0.0:0.0	.	1868	P35498-2	.	N	1879;1879;1868;1851	ENSP00000407030:S1879N;ENSP00000303540:S1879N;ENSP00000364554:S1868N;ENSP00000386312:S1851N	ENSP00000303540:S1879N	S	-	2	0	SCN1A	166556395	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.773000	0.85462	2.788000	0.95919	0.650000	0.86243	AGT		0.453	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		28	94	0	0	0	1	0	28	94				
TIGD3	220359	broad.mit.edu	37	11	65124370	65124370	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:65124370G>T	ENST00000309880.5	+	2	1298	c.1091G>T	c.(1090-1092)gGg>gTg	p.G364V		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	364						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						ATTCAAGAAGGGCTGGCTCCC	0.647																																						ENST00000309880.5																			0				endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						c.(1090-1092)gGg>gTg		tigger transposable element derived 3							46.0	52.0	50.0					11																	65124370		2201	4296	6497	SO:0001583	missense	220359				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr11:65124370G>T		CCDS8101.1	11q13.1	2008-07-21				ENSG00000173825			18334	protein-coding gene	gene with protein product							Standard	NM_145719		Approved		uc001odo.4	Q6B0B8		ENST00000309880.5:c.1091G>T	11.37:g.65124370G>T	ENSP00000308354:p.Gly364Val						p.G364V	NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN			2	1298	+			364						Missense_Mutation	SNP	ENST00000309880.5	37	c.1091G>T	CCDS8101.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.134689	0.56828	.	.	ENSG00000173825	ENST00000309880	T	0.18960	2.18	3.7	3.7	0.42460	.	.	.	.	.	T	0.31857	0.0810	L	0.29908	0.895	0.53005	D	0.99996	D	0.89917	1.0	D	0.87578	0.998	T	0.05599	-1.0875	9	0.66056	D	0.02	-30.201	11.2032	0.48754	0.0:0.0:1.0:0.0	.	364	Q6B0B8	TIGD3_HUMAN	V	364	ENSP00000308354:G364V	ENSP00000308354:G364V	G	+	2	0	TIGD3	64880946	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	1.190000	0.32126	2.100000	0.63781	0.456000	0.33151	GGG		0.647	TIGD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387310.1	NM_145719		24	114	1	0	1.10923e-09	1	1.36141e-09	24	114				
SLC2A14	144195	broad.mit.edu	37	12	7982600	7982600	+	Missense_Mutation	SNP	C	C	A	rs374655537		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:7982600C>A	ENST00000543909.1	-	10	1103	c.344G>T	c.(343-345)cGc>cTc	p.R115L	SLC2A14_ENST00000542546.1_Missense_Mutation_p.R6L|SLC2A14_ENST00000340749.5_Missense_Mutation_p.R92L|SLC2A14_ENST00000431042.2_Missense_Mutation_p.R92L|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000535295.1_Missense_Mutation_p.R6L|SLC2A14_ENST00000539924.1_Missense_Mutation_p.R130L|SLC2A14_ENST00000396589.2_Missense_Mutation_p.R115L			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	115					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)	p.R115H(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		CATTGAATTGCGCCTGTAAGG	0.458																																						ENST00000543909.1																			1	Substitution - Missense(1)	p.R115H(1)	lung(1)	central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38						c.(343-345)cGc>cTc		solute carrier family 2 (facilitated glucose transporter), member 14							58.0	57.0	58.0					12																	7982600		2203	4300	6503	SO:0001583	missense	144195				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	g.chr12:7982600C>A	AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"""Solute carriers"""	18301	protein-coding gene	gene with protein product		611039	"""solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"""	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.344G>T	12.37:g.7982600C>A	ENSP00000440480:p.Arg115Leu					SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000396589.2_Missense_Mutation_p.R115L|SLC2A14_ENST00000535295.1_Missense_Mutation_p.R6L|SLC2A14_ENST00000340749.5_Missense_Mutation_p.R92L|SLC2A14_ENST00000542546.1_Missense_Mutation_p.R6L|SLC2A14_ENST00000431042.2_Missense_Mutation_p.R92L|SLC2A14_ENST00000539924.1_Missense_Mutation_p.R130L	p.R115L			Q8TDB8	GTR14_HUMAN		Kidney(36;0.0883)	10	1103	-			115					B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	ENST00000543909.1	37	c.344G>T	CCDS8585.1	.	.	.	.	.	.	.	.	.	.	c	20.2	3.957081	0.73902	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000396589;ENST00000535295;ENST00000542546;ENST00000539924;ENST00000546234;ENST00000542782;ENST00000535344;ENST00000537557;ENST00000535266	T;T;T;T;T;T;T;T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31	3.11	3.11	0.35812	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.054876	0.64402	D	0.000001	D	0.86598	0.5971	M	0.93978	3.48	0.54753	D	0.999988	P;P;P;P	0.47034	0.596;0.658;0.606;0.889	P;P;B;P	0.46389	0.454;0.46;0.428;0.515	D	0.89652	0.3870	10	0.87932	D	0	.	12.0079	0.53270	0.0:1.0:0.0:0.0	.	130;6;92;115	B7ZAC3;B7Z844;Q8TDB8-2;Q8TDB8	.;.;.;GTR14_HUMAN	L	92;115;92;115;6;6;130;92;92;92;115;115	ENSP00000340450:R92L;ENSP00000440480:R115L;ENSP00000407287:R92L;ENSP00000379834:R115L;ENSP00000440492:R6L;ENSP00000443903:R6L;ENSP00000445929:R130L;ENSP00000440043:R92L;ENSP00000438312:R92L;ENSP00000443217:R92L;ENSP00000440044:R115L;ENSP00000437653:R115L	ENSP00000340450:R92L	R	-	2	0	SLC2A14	7873867	1.000000	0.71417	0.998000	0.56505	0.273000	0.26683	6.902000	0.75699	1.430000	0.47334	0.460000	0.39030	CGC		0.458	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449		20	38	1	0	1.96292e-10	1	2.4481e-10	20	38				
TANGO6	79613	broad.mit.edu	37	16	69056738	69056738	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr16:69056738G>A	ENST00000261778.1	+	16	2862	c.2850G>A	c.(2848-2850)atG>atA	p.M950I		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	950						integral component of membrane (GO:0016021)											TAGGAGACATGGTCTCAAAGT	0.428																																						ENST00000261778.1																			0											c.(2848-2850)atG>atA		transport and golgi organization 6 homolog (Drosophila)							40.0	36.0	37.0					16																	69056738		1858	4098	5956	SO:0001583	missense	79613							g.chr16:69056738G>A		CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.2850G>A	16.37:g.69056738G>A	ENSP00000261778:p.Met950Ile						p.M950I	NM_024562.1	NP_078838.1					16	2862	+								Q569F9|Q9H9K1	Missense_Mutation	SNP	ENST00000261778.1	37	c.2850G>A	CCDS45516.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.348748	0.41599	.	.	ENSG00000103047	ENST00000261778	T	0.63744	-0.06	4.36	4.36	0.52297	Armadillo-like helical (1);Armadillo-type fold (1);	0.122893	0.64402	D	0.000017	T	0.52837	0.1759	L	0.46157	1.445	0.43569	D	0.99589	B	0.30406	0.278	B	0.24974	0.057	T	0.51092	-0.8749	10	0.19147	T	0.46	-9.7888	15.6866	0.77415	0.0:0.0:1.0:0.0	.	950	Q9C0B7	TMCO7_HUMAN	I	950	ENSP00000261778:M950I	ENSP00000261778:M950I	M	+	3	0	TMCO7	67614239	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.686000	0.61700	1.968000	0.57251	0.442000	0.29010	ATG		0.428	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2		10	11	0	0	0	1	0	10	11				
WEE2	494551	broad.mit.edu	37	7	141420826	141420826	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:141420826C>T	ENST00000397541.2	+	5	1256	c.850C>T	c.(850-852)Cac>Tac	p.H284Y	WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000484172.1_RNA|WEE2-AS1_ENST00000486906.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000471512.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	284	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					AGAAGATGACCACATGATCAT	0.408																																						ENST00000397541.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						c.(850-852)Cac>Tac		WEE1 homolog 2 (S. pombe)							130.0	121.0	124.0					7																	141420826		1900	4118	6018	SO:0001583	missense	494551				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr7:141420826C>T	AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.850C>T	7.37:g.141420826C>T	ENSP00000380675:p.His284Tyr					WEE2-AS1_ENST00000488785.1_RNA	p.H284Y	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN			5	1256	+	Melanoma(164;0.0171)		284			Protein kinase.			Missense_Mutation	SNP	ENST00000397541.2	37	c.850C>T	CCDS43660.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.999491	0.54147	.	.	ENSG00000214102	ENST00000397541;ENST00000493845	T;T	0.65916	-0.18;-0.18	5.53	2.78	0.32641	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.062940	0.64402	N	0.000006	T	0.55878	0.1948	L	0.51422	1.61	0.53688	D	0.999973	B	0.12630	0.006	B	0.25506	0.061	T	0.52609	-0.8553	10	0.62326	D	0.03	.	10.6458	0.45619	0.0:0.7934:0.0:0.2066	.	284	P0C1S8	WEE2_HUMAN	Y	284;59	ENSP00000380675:H284Y;ENSP00000420388:H59Y	ENSP00000380675:H284Y	H	+	1	0	WEE2	141067295	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	3.084000	0.50143	0.315000	0.23110	-0.136000	0.14681	CAC		0.408	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1	NM_001105558		31	145	0	0	0	1	0	31	145				
SVIL	6840	broad.mit.edu	37	10	29818743	29818743	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:29818743C>T	ENST00000355867.4	-	12	2889	c.2137G>A	c.(2137-2139)Gtt>Att	p.V713I	SVIL_ENST00000375400.3_Missense_Mutation_p.V319I|SVIL_ENST00000375398.2_Missense_Mutation_p.V713I	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	713					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CGCTTTGGAACATTTTGTTCA	0.493																																						ENST00000375398.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(2137-2139)Gtt>Att		supervillin							117.0	107.0	110.0					10																	29818743		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29818743C>T	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.2137G>A	10.37:g.29818743C>T	ENSP00000348128:p.Val713Ile					SVIL_ENST00000355867.4_Missense_Mutation_p.V713I|SVIL_ENST00000375400.3_Missense_Mutation_p.V319I	p.V713I			O95425	SVIL_HUMAN			14	2586	-		Breast(68;0.103)	713					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.2137G>A	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	C	4.691	0.128541	0.08981	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867	T;T;T	0.50548	0.74;0.74;0.74	5.01	2.04	0.26737	.	0.602875	0.18745	N	0.132348	T	0.35335	0.0928	L	0.52011	1.625	0.21627	N	0.999615	B;B	0.14805	0.011;0.008	B;B	0.14578	0.011;0.005	T	0.17837	-1.0356	9	.	.	.	-9.3158	4.8037	0.13310	0.0:0.4804:0.1589:0.3607	.	319;713	O95425-2;O95425	.;SVIL_HUMAN	I	319;713;713	ENSP00000364549:V319I;ENSP00000364547:V713I;ENSP00000348128:V713I	.	V	-	1	0	SVIL	29858749	0.013000	0.17824	0.147000	0.22382	0.562000	0.35680	0.604000	0.24164	0.606000	0.29965	0.491000	0.48974	GTT		0.493	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			13	40	0	0	0	1	0	13	40				
ARHGAP28	79822	broad.mit.edu	37	18	6851075	6851075	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr18:6851075A>C	ENST00000383472.4	+	4	690	c.586A>C	c.(586-588)Acc>Ccc	p.T196P	ARHGAP28_ENST00000314319.3_Missense_Mutation_p.T37P|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.T19P|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.T196P|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.T37P|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.T144P|ARHGAP28_ENST00000419673.2_Missense_Mutation_p.T37P|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.T37P			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	196					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				GCTGGATGGCACCAAGGAAGA	0.453																																						ENST00000419673.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37						c.(109-111)Acc>Ccc		Rho GTPase activating protein 28							177.0	153.0	161.0					18																	6851075		2203	4300	6503	SO:0001583	missense	79822				signal transduction	intracellular		g.chr18:6851075A>C	BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"""Rho GTPase activating proteins"""	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.586A>C	18.37:g.6851075A>C	ENSP00000372964:p.Thr196Pro					ARHGAP28_ENST00000532996.1_Missense_Mutation_p.T19P|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.T144P|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.T37P|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.T196P|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.T196P|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.T37P|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.T37P	p.T37P	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN			3	326	+		Colorectal(10;0.168)	0					A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	ENST00000383472.4	37	c.109A>C		.	.	.	.	.	.	.	.	.	.	A	5.854	0.341681	0.11069	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T	0.08458	3.24;3.19;3.17;3.16;3.17;3.09	4.41	0.692	0.18050	.	0.842682	0.11062	N	0.603903	T	0.04815	0.0130	N	0.19112	0.55	0.09310	N	1	B;B;B	0.13145	0.007;0.001;0.001	B;B;B	0.08055	0.003;0.002;0.003	T	0.41928	-0.9481	10	0.34782	T	0.22	.	3.7838	0.08692	0.6145:0.1883:0.1972:0.0	.	28;37;144	E9PRP2;F6VKJ9;Q9P2N2-2	.;.;.	P	196;144;37;37;37;37;28;19	ENSP00000382963:T196P;ENSP00000262227:T144P;ENSP00000392660:T37P;ENSP00000437262:T37P;ENSP00000313506:T37P;ENSP00000406907:T37P	ENSP00000262227:T144P	T	+	1	0	ARHGAP28	6841075	0.000000	0.05858	0.001000	0.08648	0.327000	0.28475	-0.478000	0.06575	0.116000	0.18110	0.533000	0.62120	ACC		0.453	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3	XM_371108		49	59	0	0	0	1	0	49	59				
EPS15	2060	broad.mit.edu	37	1	51926824	51926824	+	Splice_Site	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:51926824T>A	ENST00000371733.3	-	8	598		c.e8-2		RP11-253A20.1_ENST00000424246.1_RNA|EPS15_ENST00000371730.2_Splice_Site	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15						cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						CTCCCAAACCTTAAAAAGAGA	0.343			T	MLL	ALL																																	ENST00000371733.3				Dom	yes		1	1p32	2060	T	epidermal growth factor receptor pathway substrate 15 (AF1p)			L	MLL		ALL		1	Whole gene deletion(1)	p.0?(1)	central_nervous_system(1)	endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						c.e8-2		epidermal growth factor receptor pathway substrate 15							112.0	112.0	112.0					1																	51926824		2203	4300	6503	SO:0001630	splice_region_variant	2060				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	g.chr1:51926824T>A	BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"""EF-hand domain containing"""	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.502-2A>T	1.37:g.51926824T>A						EPS15_ENST00000371730.2_Splice_Site		NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN			8	598	-								B2R8J7|D3DPJ2|Q5SRH4	Splice_Site	SNP	ENST00000371733.3	37		CCDS557.1	.	.	.	.	.	.	.	.	.	.	T	17.98	3.521554	0.64747	.	.	ENSG00000085832	ENST00000371730;ENST00000371733;ENST00000371727	.	.	.	3.96	3.96	0.45880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5452	0.61699	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	EPS15	51699412	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	7.091000	0.76923	2.024000	0.59613	0.528000	0.53228	.		0.343	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1	NM_001981	Intron	19	63	0	0	0	1	0	19	63				
ACSBG2	81616	broad.mit.edu	37	19	6166026	6166026	+	Splice_Site	SNP	C	C	T	rs560299046		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:6166026C>T	ENST00000586696.1	+	7	1014	c.738C>T	c.(736-738)aaC>aaT	p.N246N	ACSBG2_ENST00000588304.1_Splice_Site_p.N196N|ACSBG2_ENST00000591403.1_Splice_Site_p.N246N|ACSBG2_ENST00000588485.1_Splice_Site_p.N59N|ACSBG2_ENST00000252669.5_Splice_Site_p.N246N|ACSBG2_ENST00000591741.1_3'UTR			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	246					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid metabolic process (GO:0001676)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)	p.N246N(2)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTCATGACAACGTACGCCAAA	0.552											OREG0025194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0	0.0	5008	,	,		20823	0.001		0.0	False		,,,				2504	0.0					ENST00000588304.1																			2	Substitution - coding silent(2)	p.N246N(2)	large_intestine(1)|endometrium(1)	breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.e7+1		acyl-CoA synthetase bubblegum family member 2							139.0	99.0	112.0					19																	6166026		2203	4300	6503	SO:0001630	splice_region_variant	81616				cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity	g.chr19:6166026C>T		CCDS12159.1, CCDS74269.1	19p13.3	2012-10-02			ENSG00000130377	ENSG00000130377		"""Acyl-CoA synthetase family"""	24174	protein-coding gene	gene with protein product	"""bubblegum related protein"""	614363				11230166	Standard	XM_005259653		Approved	BGR, PRTD-NY3, DKFZp434K1635	uc002meh.1	Q5FVE4	OTTHUMG00000180754	ENST00000586696.1:c.738+1C>T	19.37:g.6166026C>T			OREG0025194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	632	ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000586696.1_Splice_Site_p.N246_splice|ACSBG2_ENST00000588485.1_Splice_Site_p.N59_splice|ACSBG2_ENST00000252669.5_Splice_Site_p.N246_splice|ACSBG2_ENST00000591403.1_Splice_Site_p.N246_splice	p.N196_splice			Q5FVE4	ACBG2_HUMAN			7	1034	+			246					B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Splice_Site	SNP	ENST00000586696.1	37	c.588_splice	CCDS12159.1																																																																																				0.552	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452898.1	NM_030924	Silent	23	70	0	0	0	1	0	23	70				
PLXNA4	91584	broad.mit.edu	37	7	131913158	131913158	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:131913158C>A	ENST00000359827.3	-	6	2637	c.1675G>T	c.(1675-1677)Gtc>Ttc	p.V559F	PLXNA4_ENST00000321063.4_Missense_Mutation_p.V559F			Q9HCM2	PLXA4_HUMAN	plexin A4	559	PSI 1.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GTCAGCCGGACACACTGCTTC	0.592																																						ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(1675-1677)Gtc>Ttc		plexin A4							81.0	86.0	84.0					7																	131913158		1996	4175	6171	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131913158C>A	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.1675G>T	7.37:g.131913158C>A	ENSP00000352882:p.Val559Phe					PLXNA4_ENST00000321063.4_Missense_Mutation_p.V559F	p.V559F			Q9HCM2	PLXA4_HUMAN			6	2637	-			559			PSI 1.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.1675G>T	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	35	5.504218	0.96371	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.23147	1.92;1.92	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.59569	0.2203	M	0.89478	3.035	0.80722	D	1	D	0.60575	0.988	D	0.67548	0.952	T	0.62941	-0.6747	10	0.52906	T	0.07	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	559	Q9HCM2	PLXA4_HUMAN	F	559	ENSP00000323194:V559F;ENSP00000352882:V559F	ENSP00000323194:V559F	V	-	1	0	PLXNA4	131563698	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.687000	0.84139	2.793000	0.96121	0.655000	0.94253	GTC		0.592	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		9	64	1	0	7.48243e-07	1	8.58311e-07	9	64				
WDR17	116966	broad.mit.edu	37	4	177094455	177094455	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:177094455A>G	ENST00000280190.4	+	27	3555	c.3399A>G	c.(3397-3399)atA>atG	p.I1133M	WDR17_ENST00000393643.2_Missense_Mutation_p.I1109M|WDR17_ENST00000507824.2_Missense_Mutation_p.I1108M|WDR17_ENST00000508596.1_Missense_Mutation_p.I1094M			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1133										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TGGATACCATATACCCTGTTC	0.328																																						ENST00000393643.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92						c.(3325-3327)atA>atG		WD repeat domain 17							91.0	88.0	89.0					4																	177094455		2203	4300	6503	SO:0001583	missense	116966							g.chr4:177094455A>G	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.3399A>G	4.37:g.177094455A>G	ENSP00000280190:p.Ile1133Met					WDR17_ENST00000280190.4_Missense_Mutation_p.I1133M|WDR17_ENST00000508596.1_Missense_Mutation_p.I1094M|WDR17_ENST00000507824.2_Missense_Mutation_p.I1108M	p.I1109M	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	26	3579	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	1133					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.3327A>G	CCDS3825.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.84|10.84	1.465263|1.465263	0.26335|0.26335	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824|ENST00000443118	T;T;T|T	0.62105|0.12879	0.07;0.1;0.05|2.64	5.58|5.58	0.339|0.339	0.15979|0.15979	.|.	0.534638|0.534638	0.19458|0.19458	N|N	0.113766|0.113766	T|T	0.08802|0.08802	0.0218|0.0218	L|L	0.47716|0.47716	1.5|1.5	0.26119|0.26119	N|N	0.980574|0.980574	P;P;P|.	0.44946|.	0.846;0.684;0.846|.	P;P;P|.	0.44561|.	0.453;0.453;0.453|.	T|T	0.35724|0.35724	-0.9777|-0.9777	10|8	0.87932|0.06099	D|T	0|0.92	-6.2188|-6.2188	3.9498|3.9498	0.09364|0.09364	0.1752:0.3865:0.0:0.4383|0.1752:0.3865:0.0:0.4383	.|.	1109;1094;1133|.	E7EP77;E7EQX0;Q8IZU2|.	.;.;WDR17_HUMAN|.	M|V	1094;1109;1133;1109|368	ENSP00000422763:I1094M;ENSP00000377258:I1109M;ENSP00000280190:I1133M|ENSP00000426985:I368V	ENSP00000280190:I1133M|ENSP00000426985:I368V	I|I	+|+	3|1	3|0	WDR17|WDR17	177331449|177331449	0.147000|0.147000	0.22687|0.22687	0.964000|0.964000	0.40570|0.40570	0.247000|0.247000	0.25773|0.25773	-0.512000|-0.512000	0.06313|0.06313	0.074000|0.074000	0.16767|0.16767	-0.672000|-0.672000	0.03802|0.03802	ATA|ATA		0.328	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			11	35	0	0	0	1	0	11	35				
CCDC74B	91409	broad.mit.edu	37	2	130897665	130897665	+	Missense_Mutation	SNP	T	T	A	rs202218049	byFrequency	TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:130897665T>A	ENST00000310463.6	-	6	1018	c.881A>T	c.(880-882)cAg>cTg	p.Q294L	MED15P9_ENST00000427638.1_RNA|CCDC74B_ENST00000409943.3_Missense_Mutation_p.Q228L|CCDC74B_ENST00000392984.3_Missense_Mutation_p.Q396L	NM_207310.2	NP_997193.1	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	294										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					CTTGAGGTGCTGCAGCTGAAA	0.692																																						ENST00000392984.3																			0				endometrium(2)|large_intestine(1)|lung(3)	6						c.(1186-1188)cAg>cTg		coiled-coil domain containing 74B							31.0	34.0	33.0					2																	130897665		2203	4299	6502	SO:0001583	missense	91409							g.chr2:130897665T>A		CCDS2155.1, CCDS58726.1	2q21.1	2006-11-29		2006-02-16	ENSG00000152076	ENSG00000152076			25267	protein-coding gene	gene with protein product							Standard	NM_001258307		Approved	DKFZp434E2321	uc002tqn.2	Q96LY2	OTTHUMG00000131629	ENST00000310463.6:c.881A>T	2.37:g.130897665T>A	ENSP00000308873:p.Gln294Leu					CCDC74B_ENST00000409943.3_Missense_Mutation_p.Q228L|CCDC74B_ENST00000310463.6_Missense_Mutation_p.Q294L	p.Q396L			Q96LY2	CC74B_HUMAN			5	1930	-	Colorectal(110;0.1)		294					Q6NW18	Missense_Mutation	SNP	ENST00000310463.6	37	c.1187A>T	CCDS2155.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	6.465|6.465	0.454024|0.454024	0.12283|0.12283	.|.	.|.	ENSG00000152076|ENSG00000152076	ENST00000409943;ENST00000310463;ENST00000392984|ENST00000409488	T;T;T|.	0.30448|.	1.53;1.53;1.53|.	2.32|2.32	0.958|0.958	0.19619|0.19619	.|.	0.000000|.	0.33057|.	U|.	0.005321|.	T|T	0.39091|0.39091	0.1065|0.1065	L|L	0.52364|0.52364	1.645|1.645	0.22531|0.22531	N|N	0.999013|0.999013	D;P;B|.	0.55172|.	0.97;0.557;0.447|.	B;B;B|.	0.42030|.	0.373;0.219;0.125|.	T|T	0.35251|0.35251	-0.9796|-0.9796	10|6	0.59425|0.56958	D|D	0.04|0.05	.|.	4.472|4.472	0.11717|0.11717	0.0:0.1802:0.0:0.8197|0.0:0.1802:0.0:0.8197	.|.	396;228;294|.	E7ESC5;Q96LY2-2;Q96LY2|.	.;.;CC74B_HUMAN|.	L|C	228;294;396|192	ENSP00000386294:Q228L;ENSP00000308873:Q294L;ENSP00000376710:Q396L|.	ENSP00000308873:Q294L|ENSP00000386250:S192C	Q|S	-|-	2|1	0|0	CCDC74B|CCDC74B	130614135|130614135	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.434000|0.434000	0.31775|0.31775	0.828000|0.828000	0.27435|0.27435	0.097000|0.097000	0.17492|0.17492	0.248000|0.248000	0.18094|0.18094	CAG|AGC		0.692	CCDC74B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254522.3	NM_207310		7	56	0	0	0	1	0	7	56				
CRB2	286204	broad.mit.edu	37	9	126132737	126132737	+	Silent	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:126132737C>T	ENST00000373631.3	+	7	1406	c.1405C>T	c.(1405-1407)Ctg>Ttg	p.L469L	CRB2_ENST00000373629.2_Silent_p.L137L|CRB2_ENST00000359999.3_Silent_p.L469L	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	469	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TCGCACCACACTGCCCGCTGG	0.607																																						ENST00000373631.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						c.(1405-1407)Ctg>Ttg		crumbs homolog 2 (Drosophila)							50.0	45.0	47.0					9																	126132737		2203	4300	6503	SO:0001819	synonymous_variant	286204					extracellular region|integral to membrane|plasma membrane	calcium ion binding	g.chr9:126132737C>T	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"""crumbs homolog 2 (Drosophila)"""			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.1405C>T	9.37:g.126132737C>T						CRB2_ENST00000359999.3_Silent_p.L469L|CRB2_ENST00000373629.2_Silent_p.L137L	p.L469L	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN			7	1406	+			469			Laminin G-like 1.		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Silent	SNP	ENST00000373631.3	37	c.1405C>T	CCDS6852.2																																																																																				0.607	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		20	59	0	0	0	1	0	20	59				
POLI	11201	broad.mit.edu	37	18	51800403	51800403	+	Missense_Mutation	SNP	G	G	T	rs142974796	byFrequency	TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr18:51800403G>T	ENST00000579534.1	+	3	492	c.349G>T	c.(349-351)Gta>Tta	p.V117L	POLI_ENST00000579434.1_Missense_Mutation_p.V14L|POLI_ENST00000406285.3_Missense_Mutation_p.V117L|POLI_ENST00000217800.5_Missense_Mutation_p.V14L	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	117	UmuC. {ECO:0000255|PROSITE- ProRule:PRU00216}.				DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		TCCACAGTTGGTATTAGTTAA	0.348								DNA polymerases (catalytic subunits)																														ENST00000579534.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26						c.(349-351)Gta>Tta	DNA polymerases (catalytic subunits)	polymerase (DNA directed) iota							64.0	64.0	64.0					18																	51800403		2203	4300	6503	SO:0001583	missense	11201				DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding	g.chr18:51800403G>T		CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"""DNA polymerases"""	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579534.1:c.349G>T	18.37:g.51800403G>T	ENSP00000462664:p.Val117Leu					POLI_ENST00000217800.5_Missense_Mutation_p.V14L|POLI_ENST00000579434.1_Missense_Mutation_p.V14L|POLI_ENST00000406285.3_Missense_Mutation_p.V117L	p.V117L	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN		Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)	3	492	+			117			UmuC.		Q8N590|Q9H0S1|Q9NYH6	Missense_Mutation	SNP	ENST00000579534.1	37	c.349G>T	CCDS11954.2	.	.	.	.	.	.	.	.	.	.	G	12.06	1.823592	0.32237	.	.	ENSG00000101751	ENST00000406285;ENST00000217800	T	0.73363	-0.74	5.86	3.14	0.36123	DNA-repair protein, UmuC-like, N-terminal (1);DNA-repair protein, UmuC-like (1);	0.000000	0.85682	D	0.000000	T	0.76090	0.3939	L	0.60455	1.87	0.54753	D	0.999988	P;P	0.41498	0.752;0.467	P;B	0.53062	0.717;0.154	T	0.70601	-0.4827	10	0.38643	T	0.18	-10.8235	6.1668	0.20394	0.2166:0.0:0.6518:0.1316	.	116;117	B7Z780;Q9UNA4	.;POLI_HUMAN	L	117	ENSP00000385196:V117L	ENSP00000217800:V117L	V	+	1	0	POLI	50054401	1.000000	0.71417	0.732000	0.30844	0.843000	0.47879	3.972000	0.56838	0.402000	0.25451	-0.136000	0.14681	GTA		0.348	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256002.3	NM_007195		9	21	1	0	0.000274275	1	0.000291653	9	21				
PDE3A	5139	broad.mit.edu	37	12	20833091	20833091	+	Silent	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:20833091G>C	ENST00000359062.3	+	16	3352	c.3312G>C	c.(3310-3312)ctG>ctC	p.L1104L	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1104					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	ATCAATCCCTGGACCAGACCC	0.473																																						ENST00000359062.3																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58						c.(3310-3312)ctG>ctC		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						109.0	106.0	107.0					12																	20833091		2203	4300	6503	SO:0001819	synonymous_variant	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20833091G>C		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.3312G>C	12.37:g.20833091G>C						PDE3A_ENST00000544307.1_3'UTR	p.L1104L	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			16	3352	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	1104					O60865|Q13348|Q17RD1	Silent	SNP	ENST00000359062.3	37	c.3312G>C	CCDS31754.1																																																																																				0.473	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			27	125	0	0	0	1	0	27	125				
PTPRJ	5795	broad.mit.edu	37	11	48149384	48149384	+	Silent	SNP	G	G	A	rs145270865		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:48149384G>A	ENST00000418331.2	+	7	1498	c.1146G>A	c.(1144-1146)ctG>ctA	p.L382L	PTPRJ_ENST00000440289.2_Silent_p.L382L	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	382	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CCACAAGCCTGACCCTGATCT	0.478																																						ENST00000418331.2																			0				breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(1144-1146)ctG>ctA		protein tyrosine phosphatase, receptor type, J		G	,	0,4402		0,0,2201	150.0	127.0	134.0		1146,1146	4.1	0.5	11	dbSNP_134	134	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous	PTPRJ	NM_001098503.1,NM_002843.3	,	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	,	382/540,382/1338	48149384	1,12997	2201	4298	6499	SO:0001819	synonymous_variant	5795				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	g.chr11:48149384G>A	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.1146G>A	11.37:g.48149384G>A						PTPRJ_ENST00000440289.2_Silent_p.L382L	p.L382L	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN			7	1498	+			382			Fibronectin type-III 4.		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Silent	SNP	ENST00000418331.2	37	c.1146G>A	CCDS7945.1																																																																																				0.478	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			31	90	0	0	0	1	0	31	90				
SLC17A8	246213	broad.mit.edu	37	12	100811931	100811931	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:100811931C>A	ENST00000323346.5	+	11	1735	c.1422C>A	c.(1420-1422)caC>caA	p.H474Q	SLC17A8_ENST00000552697.1_3'UTR|SLC17A8_ENST00000392989.3_Missense_Mutation_p.H424Q	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	474					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TGACCAGGCACAAGGTAAAGG	0.498																																						ENST00000323346.5																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1420-1422)caC>caA		solute carrier family 17 (vesicular glutamate transporter), member 8							147.0	136.0	140.0					12																	100811931		2203	4300	6503	SO:0001583	missense	246213				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr12:100811931C>A	AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.1422C>A	12.37:g.100811931C>A	ENSP00000316909:p.His474Gln					SLC17A8_ENST00000392989.3_Missense_Mutation_p.H424Q|SLC17A8_ENST00000552697.1_3'UTR	p.H474Q	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN			11	1735	+			474					B3KXZ6|B7ZKV4|Q17RQ8	Missense_Mutation	SNP	ENST00000323346.5	37	c.1422C>A	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.823881	0.32237	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	T;T	0.53857	0.6;0.6	5.51	4.62	0.57501	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.056009	0.64402	D	0.000001	T	0.41627	0.1167	N	0.19112	0.55	0.52099	D	0.999942	B;P	0.43885	0.054;0.82	B;B	0.44315	0.045;0.446	T	0.39643	-0.9604	10	0.52906	T	0.07	.	11.1852	0.48653	0.0:0.8061:0.0:0.1939	.	474;424	Q8NDX2;Q8NDX2-2	VGLU3_HUMAN;.	Q	474;424	ENSP00000316909:H474Q;ENSP00000376715:H424Q	ENSP00000316909:H474Q	H	+	3	2	SLC17A8	99336062	0.995000	0.38212	1.000000	0.80357	0.872000	0.50106	0.501000	0.22578	1.484000	0.48361	-0.145000	0.13849	CAC		0.498	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319		30	116	1	0	3.1745e-13	1	4.16788e-13	30	116				
PEX5L	51555	broad.mit.edu	37	3	179605490	179605490	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:179605490A>T	ENST00000467460.1	-	4	611	c.281T>A	c.(280-282)aTa>aAa	p.I94K	PEX5L_ENST00000485199.1_Missense_Mutation_p.I59K|PEX5L_ENST00000263962.8_Missense_Mutation_p.I92K|PEX5L_ENST00000472994.1_Missense_Mutation_p.I35K|PEX5L_ENST00000464614.1_Missense_Mutation_p.I51K|PEX5L_ENST00000465751.1_Missense_Mutation_p.I70K|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000392649.3_Missense_Mutation_p.I51K|PEX5L_ENST00000476138.1_Missense_Mutation_p.I51K|PEX5L_ENST00000468741.1_5'UTR	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	94					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TGGCCTTGCTATTGCTTCCGA	0.403																																						ENST00000467460.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(280-282)aTa>aAa		peroxisomal biogenesis factor 5-like							219.0	218.0	218.0					3																	179605490		2203	4300	6503	SO:0001583	missense	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179605490A>T	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.281T>A	3.37:g.179605490A>T	ENSP00000419975:p.Ile94Lys					PEX5L_ENST00000465751.1_Missense_Mutation_p.I70K|PEX5L_ENST00000476138.1_Missense_Mutation_p.I51K|PEX5L_ENST00000263962.8_Missense_Mutation_p.I92K|PEX5L_ENST00000485199.1_Missense_Mutation_p.I59K|PEX5L_ENST00000472994.1_Missense_Mutation_p.I35K|PEX5L_ENST00000464614.1_Missense_Mutation_p.I51K|PEX5L_ENST00000392649.3_Missense_Mutation_p.I51K|PEX5L_ENST00000468741.1_5'UTR|PEX5L_ENST00000467440.2_5'UTR	p.I94K	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		4	611	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		94					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	37	c.281T>A	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	A	14.05	2.419654	0.42918	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751;ENST00000469198;ENST00000463761	D;D;D;D;D;D;D;D	0.88431	-2.35;-2.35;-2.32;-2.38;-2.32;-2.32;-2.38;-2.32	5.62	1.49	0.22878	.	0.771285	0.12690	N	0.447279	T	0.74412	0.3713	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B	0.11235	0.001;0.001;0.0;0.003;0.004;0.003	B;B;B;B;B;B	0.09377	0.001;0.001;0.0;0.004;0.003;0.001	T	0.61501	-0.7050	10	0.42905	T	0.14	-0.6201	5.2226	0.15377	0.6794:0.0:0.2002:0.1203	.	35;70;51;92;59;94	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	K	94;92;59;92;51;51;47;35;51;70;83;118	ENSP00000419975:I94K;ENSP00000263962:I92K;ENSP00000418440:I59K;ENSP00000376420:I51K;ENSP00000420555:I51K;ENSP00000418054:I35K;ENSP00000417270:I51K;ENSP00000419348:I70K	ENSP00000263962:I92K	I	-	2	0	PEX5L	181088184	0.978000	0.34361	0.824000	0.32777	0.992000	0.81027	2.136000	0.42121	0.016000	0.14998	0.533000	0.62120	ATA		0.403	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		62	239	0	0	0	1	0	62	239				
LRP4	4038	broad.mit.edu	37	11	46890260	46890260	+	Silent	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:46890260G>A	ENST00000378623.1	-	33	5084	c.4842C>T	c.(4840-4842)acC>acT	p.T1614T	LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1614					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CACAGGCATTGGTCCCTGGAG	0.512																																						ENST00000378623.1																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(4840-4842)acC>acT		low density lipoprotein receptor-related protein 4							65.0	59.0	61.0					11																	46890260		2201	4299	6500	SO:0001819	synonymous_variant	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46890260G>A	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.4842C>T	11.37:g.46890260G>A						LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	p.T1614T	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN		Lung(87;0.159)	33	5084	-			1614					B2RN39|Q4AC85|Q5KTZ5	Silent	SNP	ENST00000378623.1	37	c.4842C>T	CCDS31478.1																																																																																				0.512	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		18	39	0	0	0	1	0	18	39				
PTPRM	5797	broad.mit.edu	37	18	7906572	7906572	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr18:7906572C>A	ENST00000332175.8	+	4	1575	c.538C>A	c.(538-540)Cat>Aat	p.H180N	PTPRM_ENST00000400053.4_Missense_Mutation_p.H118N|PTPRM_ENST00000400060.4_Missense_Mutation_p.H180N|PTPRM_ENST00000580170.1_Missense_Mutation_p.H180N	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	180	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GGTGTTAGGACATCCATGTAG	0.358																																						ENST00000332175.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(538-540)Cat>Aat		protein tyrosine phosphatase, receptor type, M							182.0	182.0	182.0					18																	7906572		2203	4300	6503	SO:0001583	missense	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:7906572C>A	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.538C>A	18.37:g.7906572C>A	ENSP00000331418:p.His180Asn					PTPRM_ENST00000580170.1_Missense_Mutation_p.H180N|PTPRM_ENST00000400053.4_Missense_Mutation_p.H118N|PTPRM_ENST00000400060.4_Missense_Mutation_p.H180N	p.H180N	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			4	1575	+		Colorectal(10;0.234)	180			MAM.		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.538C>A	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.492889	0.84962	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053	T;T;T	0.01933	4.55;4.55;4.55	5.66	5.66	0.87406	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.85682	D	0.000000	T	0.12220	0.0297	M	0.70275	2.135	0.80722	D	1	P;P	0.51057	0.941;0.941	D;D	0.66084	0.941;0.941	T	0.00031	-1.2283	10	0.62326	D	0.03	.	17.9337	0.89006	0.0:1.0:0.0:0.0	.	180;180	A7MBN1;P28827	.;PTPRM_HUMAN	N	180;180;118	ENSP00000331418:H180N;ENSP00000382933:H180N;ENSP00000382927:H118N	ENSP00000331418:H180N	H	+	1	0	PTPRM	7896572	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.360000	0.66086	2.682000	0.91365	0.650000	0.86243	CAT		0.358	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			50	64	1	0	6.7651e-33	1	1.03624e-32	50	64				
PKHD1	5314	broad.mit.edu	37	6	51892673	51892673	+	Silent	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:51892673G>A	ENST00000371117.3	-	31	3857	c.3582C>T	c.(3580-3582)taC>taT	p.Y1194Y	PKHD1_ENST00000340994.4_Silent_p.Y1194Y	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1194					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTTCTGTGAGGTACTGGATGT	0.438																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(3580-3582)taC>taT		polycystic kidney and hepatic disease 1 (autosomal recessive)							72.0	71.0	72.0					6																	51892673		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51892673G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.3582C>T	6.37:g.51892673G>A						PKHD1_ENST00000340994.4_Silent_p.Y1194Y	p.Y1194Y	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			31	3857	-	Lung NSC(77;0.0605)		1194					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.3582C>T	CCDS4935.1																																																																																				0.438	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		17	41	0	0	0	1	0	17	41				
GABRB1	2560	broad.mit.edu	37	4	47322160	47322160	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:47322160G>T	ENST00000295454.3	+	5	770	c.478G>T	c.(478-480)Gca>Tca	p.A160S	GABRB1_ENST00000538619.1_Missense_Mutation_p.A90S	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	160					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					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)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|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)	AACCACAGCTGCATGTATGAT	0.418																																						ENST00000295454.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(478-480)Gca>Tca		gamma-aminobutyric acid (GABA) A receptor, beta 1	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						113.0	101.0	105.0					4																	47322160		2203	4300	6503	SO:0001583	missense	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47322160G>T		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.478G>T	4.37:g.47322160G>T	ENSP00000295454:p.Ala160Ser					GABRB1_ENST00000538619.1_Missense_Mutation_p.A90S	p.A160S	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN			5	770	+			160					B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	c.478G>T	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.734277	0.89482	.	.	ENSG00000163288	ENST00000295454;ENST00000538619	T;T	0.77229	-1.08;-1.08	5.19	5.19	0.71726	Neurotransmitter-gated ion-channel ligand-binding (3);	0.351269	0.25546	N	0.029931	T	0.81054	0.4743	L	0.33710	1.025	0.58432	D	0.999999	P;D	0.69078	0.855;0.997	P;D	0.80764	0.462;0.994	T	0.75288	-0.3370	10	0.16420	T	0.52	-15.3825	16.2533	0.82498	0.0:0.0:1.0:0.0	.	90;160	F5GXV5;P18505	.;GBRB1_HUMAN	S	160;90	ENSP00000295454:A160S;ENSP00000440330:A90S	ENSP00000295454:A160S	A	+	1	0	GABRB1	47016917	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	7.285000	0.78660	2.697000	0.92050	0.585000	0.79938	GCA		0.418	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			15	61	1	0	1.15088e-07	1	1.34211e-07	15	61				
CPN1	1369	broad.mit.edu	37	10	101841328	101841328	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:101841328C>A	ENST00000370418.3	-	1	306	c.55G>T	c.(55-57)Gcc>Tcc	p.A19S		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	19					response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		GTCACCGGGGCAACCAACTTG	0.562																																						ENST00000370418.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33						c.(55-57)Gcc>Tcc		carboxypeptidase N, polypeptide 1							70.0	61.0	64.0					10																	101841328		2203	4300	6503	SO:0001583	missense	1369				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:101841328C>A	X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"""anaphylatoxin inactivator"", ""arginine carboxypeptidase"", ""carboxypeptidase K"", ""kininase I"", ""lysine carboxypeptidase"""	603103	"""carboxypeptidase N, polypeptide 1, 50kD"""			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.55G>T	10.37:g.101841328C>A	ENSP00000359446:p.Ala19Ser						p.A19S	NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)	1	306	-		Colorectal(252;0.234)	19					B1AP59	Missense_Mutation	SNP	ENST00000370418.3	37	c.55G>T	CCDS7486.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.141687	0.57044	.	.	ENSG00000120054	ENST00000370418	T	0.03358	3.96	5.45	1.51	0.23008	.	0.254138	0.37809	N	0.001926	T	0.03651	0.0104	L	0.50333	1.59	0.26293	N	0.978092	B	0.24132	0.098	B	0.19391	0.025	T	0.44711	-0.9310	10	0.13108	T	0.6	-24.5941	9.0801	0.36547	0.0:0.7:0.0:0.3	.	19	P15169	CBPN_HUMAN	S	19	ENSP00000359446:A19S	ENSP00000359446:A19S	A	-	1	0	CPN1	101831318	0.553000	0.26513	0.759000	0.31340	0.935000	0.57460	0.967000	0.29344	0.267000	0.21916	-0.266000	0.10368	GCC		0.562	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049828.1	NM_001308		9	53	1	0	2.17888e-05	1	2.4168e-05	9	53				
BRAF	673	broad.mit.edu	37	7	140449176	140449176	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:140449176A>T	ENST00000288602.6	-	16	1963	c.1903T>A	c.(1903-1905)Ttt>Att	p.F635I		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	635	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCTGACTGAAAGCTGTATGGA	0.328		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6		61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	0				NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1903-1905)Ttt>Att		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						107.0	110.0	109.0					7																	140449176		2202	4300	6502	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140449176A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1903T>A	7.37:g.140449176A>T	ENSP00000288602:p.Phe635Ile						p.F635I	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			16	1963	-	Melanoma(164;0.00956)		635			Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1903T>A	CCDS5863.1	.	.	.	.	.	.	.	.	.	.	A	17.52	3.409566	0.62399	.	.	ENSG00000157764	ENST00000288602	D	0.81996	-1.56	5.02	5.02	0.67125	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.71584	0.3357	N	0.11000	0.08	0.80722	D	1	B	0.30851	0.297	B	0.33339	0.162	T	0.74754	-0.3558	10	0.87932	D	0	.	15.0433	0.71807	1.0:0.0:0.0:0.0	.	635	P15056	BRAF_HUMAN	I	635	ENSP00000288602:F635I	ENSP00000288602:F635I	F	-	1	0	BRAF	140095645	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.287000	0.95975	2.025000	0.59659	0.379000	0.24179	TTT		0.328	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		15	77	0	0	0	1	0	15	77				
PARP8	79668	broad.mit.edu	37	5	50117120	50117120	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:50117120A>T	ENST00000281631.5	+	16	1900	c.1742A>T	c.(1741-1743)tAt>tTt	p.Y581F	PARP8_ENST00000514342.2_Intron|PARP8_ENST00000514067.2_Intron|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505697.2_Missense_Mutation_p.Y581F|PARP8_ENST00000503750.2_Intron|PARP8_ENST00000505554.1_Missense_Mutation_p.Y560F	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	581						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TTCGAGCCATATCCTTCTGTG	0.393																																						ENST00000281631.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1741-1743)tAt>tTt		poly (ADP-ribose) polymerase family, member 8							164.0	145.0	151.0					5																	50117120		2203	4300	6503	SO:0001583	missense	79668					intracellular	NAD+ ADP-ribosyltransferase activity	g.chr5:50117120A>T	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.1742A>T	5.37:g.50117120A>T	ENSP00000281631:p.Tyr581Phe					PARP8_ENST00000514067.2_Intron|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505554.1_Missense_Mutation_p.Y560F|PARP8_ENST00000505697.2_Missense_Mutation_p.Y581F|PARP8_ENST00000503750.2_Intron|PARP8_ENST00000514342.2_Intron	p.Y581F	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN			16	1900	+		Lung NSC(810;0.0305)|Breast(144;0.222)	581					Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	ENST00000281631.5	37	c.1742A>T	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.243718	0.79912	.	.	ENSG00000151883	ENST00000505697;ENST00000281631;ENST00000505554	.	.	.	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000001	T	0.63426	0.2510	L	0.28274	0.84	0.80722	D	1	P;P	0.52842	0.956;0.956	D;D	0.65010	0.931;0.931	T	0.61252	-0.7100	8	.	.	.	-18.93	16.3473	0.83146	1.0:0.0:0.0:0.0	.	473;581	B4DQ81;Q8N3A8	.;PARP8_HUMAN	F	581;581;560	.	.	Y	+	2	0	PARP8	50152877	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.287000	0.95975	2.320000	0.78422	0.528000	0.53228	TAT		0.393	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615		17	77	0	0	0	1	0	17	77				
BIRC6	57448	broad.mit.edu	37	2	32640703	32640703	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:32640703G>T	ENST00000421745.2	+	10	2478	c.2344G>T	c.(2344-2346)Ggt>Tgt	p.G782C		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	782					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TAGACGGAAAGGTGAGCTGGA	0.378																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(2344-2346)Ggt>Tgt		baculoviral IAP repeat containing 6							65.0	69.0	68.0					2																	32640703		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32640703G>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.2344G>T	2.37:g.32640703G>T	ENSP00000393596:p.Gly782Cys						p.G782C	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			10	2478	+	Acute lymphoblastic leukemia(172;0.155)		782					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.2344G>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	17.16	3.317597	0.60524	.	.	ENSG00000115760	ENST00000421745	T	0.62788	0.0	5.76	4.87	0.63330	.	0.121416	0.56097	N	0.000036	T	0.51822	0.1697	L	0.27053	0.805	0.58432	D	0.999999	B	0.24882	0.113	B	0.25506	0.061	T	0.49495	-0.8934	10	0.49607	T	0.09	.	15.9546	0.79876	0.0:0.0:0.864:0.136	.	782	Q9NR09	BIRC6_HUMAN	C	782	ENSP00000393596:G782C	ENSP00000393596:G782C	G	+	1	0	BIRC6	32494207	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.350000	0.66016	1.399000	0.46721	0.655000	0.94253	GGT		0.378	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		20	97	1	0	1.55795e-14	1	2.08808e-14	20	97				
PCDHGA1	56114	broad.mit.edu	37	5	140710666	140710666	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:140710666G>A	ENST00000517417.1	+	1	415	c.415G>A	c.(415-417)Gag>Aag	p.E139K	AC005618.6_ENST00000606901.1_lincRNA|PCDHGA1_ENST00000378105.3_Missense_Mutation_p.E139K	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	139	Cadherin 2. {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)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGGAACTGGAGTTTAAAAT	0.378																																						ENST00000517417.1																			0				breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78						c.(415-417)Gag>Aag									94.0	105.0	101.0					5																	140710666		2202	4300	6502	SO:0001583	missense	56114							g.chr5:140710666G>A	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.415G>A	5.37:g.140710666G>A	ENSP00000431083:p.Glu139Lys					PCDHGA1_ENST00000378105.3_Missense_Mutation_p.E139K	p.E139K	NM_018912.2	NP_061735.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	415	+								Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.415G>A	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	G	5.871	0.344844	0.11126	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.20598	2.06;2.06	4.2	4.2	0.49525	Cadherin (2);Cadherin-like (1);	0.000000	0.50627	D	0.000111	T	0.18299	0.0439	L	0.31926	0.97	0.09310	N	1	B;B	0.20368	0.035;0.044	B;B	0.26614	0.071;0.049	T	0.17379	-1.0371	10	0.56958	D	0.05	.	12.6098	0.56544	0.0:0.167:0.8329:0.0	.	139;139	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	K	139	ENSP00000431083:E139K;ENSP00000367345:E139K	ENSP00000367345:E139K	E	+	1	0	PCDHGA1	140690850	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	1.003000	0.29809	2.349000	0.79799	0.655000	0.94253	GAG		0.378	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		66	212	0	0	0	1	0	66	212				
SAT2	112483	broad.mit.edu	37	17	7529792	7529792	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:7529792C>G	ENST00000269298.5	-	6	705	c.486G>C	c.(484-486)gaG>gaC	p.E162D	SHBG_ENST00000576728.1_Intron|SHBG_ENST00000575314.1_Intron|SHBG_ENST00000572262.1_Intron|SHBG_ENST00000574539.1_Intron|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000576478.1_Intron|SAT2_ENST00000380466.2_5'UTR|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000340624.5_5'Flank|SAT2_ENST00000573566.1_Missense_Mutation_p.E128D	NM_133491.3	NP_597998.1	Q96F10	SAT2_HUMAN	spermidine/spermine N1-acetyltransferase family member 2	162	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				nor-spermidine metabolic process (GO:0046204)|putrescine acetylation (GO:0032920)|putrescine catabolic process (GO:0009447)|spermidine acetylation (GO:0032918)|spermine acetylation (GO:0032919)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	diamine N-acetyltransferase activity (GO:0004145)	p.?(1)		kidney(1)|large_intestine(2)	3				READ - Rectum adenocarcinoma(115;0.166)	Spermine(DB00127)	TTCTCGTTGCCTCTCCTTGAA	0.537																																						ENST00000269298.5																			1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	kidney(1)|large_intestine(2)	3						c.(484-486)gaG>gaC		spermidine/spermine N1-acetyltransferase family member 2	Spermine(DB00127)						160.0	143.0	149.0					17																	7529792		2203	4300	6503	SO:0001583	missense	112483					cytoplasm	diamine N-acetyltransferase activity	g.chr17:7529792C>G	AF348524	CCDS11116.1	17p13.2	2011-11-16	2008-01-07		ENSG00000141504	ENSG00000141504	2.3.1.57		23160	protein-coding gene	gene with protein product	"""diamine N-acetyltransferase 2"""	611463	"""spermidine/spermine N1-acetyltransferase 2"""			15283699, 17558023	Standard	NM_133491		Approved	SSAT2	uc002gic.2	Q96F10	OTTHUMG00000108152	ENST00000269298.5:c.486G>C	17.37:g.7529792C>G	ENSP00000269298:p.Glu162Asp					SAT2_ENST00000380466.2_5'UTR|SHBG_ENST00000575314.1_Intron|SHBG_ENST00000574539.1_Intron|SHBG_ENST00000572262.1_Intron|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000576728.1_Intron|SAT2_ENST00000573566.1_Missense_Mutation_p.E128D|SHBG_ENST00000572182.1_Intron	p.E162D	NM_133491.3	NP_597998.1	Q96F10	SAT2_HUMAN		READ - Rectum adenocarcinoma(115;0.166)	6	705	-			162			N-acetyltransferase.			Missense_Mutation	SNP	ENST00000269298.5	37	c.486G>C	CCDS11116.1	.	.	.	.	.	.	.	.	.	.	C	9.183	1.024055	0.19433	.	.	ENSG00000141504	ENST00000380466;ENST00000269298	T	0.45668	0.89	5.2	3.17	0.36434	GCN5-related N-acetyltransferase (GNAT) domain (1);	0.359665	0.31246	N	0.007997	T	0.26085	0.0636	L	0.33093	0.98	0.80722	D	1	B	0.14805	0.011	B	0.06405	0.002	T	0.05338	-1.0891	10	0.11794	T	0.64	-28.5556	7.9831	0.30196	0.0:0.8115:0.0:0.1885	.	162	Q96F10	SAT2_HUMAN	D	241;162	ENSP00000269298:E162D	ENSP00000269298:E162D	E	-	3	2	SAT2	7470517	0.001000	0.12720	0.977000	0.42913	0.023000	0.10783	-0.403000	0.07214	1.420000	0.47138	0.655000	0.94253	GAG		0.537	SAT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440078.1	NM_133491		31	104	0	0	0	1	0	31	104				
GPR98	84059	broad.mit.edu	37	5	89990323	89990323	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:89990323A>G	ENST00000405460.2	+	33	7846	c.7750A>G	c.(7750-7752)Aat>Gat	p.N2584D		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2584	Calx-beta 18. {ECO:0000255}.		N -> S (in dbSNP:rs1878878). {ECO:0000269|PubMed:11230166, ECO:0000269|PubMed:14740321}.		detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGTGATCTACAATATTAGTCC	0.438																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(7750-7752)Aat>Gat		G protein-coupled receptor 98							266.0	260.0	262.0					5																	89990323		1943	4145	6088	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89990323A>G	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.7750A>G	5.37:g.89990323A>G	ENSP00000384582:p.Asn2584Asp						p.N2584D	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	33	7846	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	2584		N -> S (in dbSNP:rs1878878).			O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.7750A>G	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	15.81	2.942296	0.53079	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.26957	1.7	5.88	4.71	0.59529	Na-Ca exchanger/integrin-beta4 (1);	0.072501	0.85682	D	0.000000	T	0.14787	0.0357	N	0.08118	0	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.14023	0.01;0.01	T	0.03761	-1.1006	10	0.62326	D	0.03	.	12.0911	0.53726	0.9328:0.0:0.0672:0.0	.	2584;2584	E7ETI5;Q8WXG9	.;GPR98_HUMAN	D	2584	ENSP00000384582:N2584D	ENSP00000296619:N2584D	N	+	1	0	GPR98	90026079	1.000000	0.71417	0.998000	0.56505	0.808000	0.45660	5.103000	0.64578	1.040000	0.40099	0.533000	0.62120	AAT		0.438	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		61	252	0	0	0	1	0	61	252				
ARHGAP21	57584	broad.mit.edu	37	10	24874495	24874495	+	Nonsense_Mutation	SNP	C	C	A	rs373404445		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:24874495C>A	ENST00000396432.2	-	26	5209	c.4723G>T	c.(4723-4725)Gag>Tag	p.E1575*		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1574					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GCCAAAAACTCGCTATGTTTC	0.517																																						ENST00000396432.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(4723-4725)Gag>Tag		Rho GTPase activating protein 21							79.0	82.0	81.0					10																	24874495		2203	4300	6503	SO:0001587	stop_gained	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24874495C>A	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.4723G>T	10.37:g.24874495C>A	ENSP00000379709:p.Glu1575*						p.E1575*	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN			26	5209	-			1574					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Nonsense_Mutation	SNP	ENST00000396432.2	37	c.4723G>T	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	C	47	13.512143	0.99746	.	.	ENSG00000107863	ENST00000396432;ENST00000447364	.	.	.	4.97	4.97	0.65823	.	0.216551	0.47852	D	0.000211	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	18.2209	0.89901	0.0:1.0:0.0:0.0	.	.	.	.	X	1575;1024	.	ENSP00000379709:E1575X	E	-	1	0	ARHGAP21	24914501	1.000000	0.71417	0.309000	0.25155	0.306000	0.27790	4.348000	0.59379	2.273000	0.75805	0.591000	0.81541	GAG		0.517	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		29	107	1	0	2.4375e-19	1	3.49767e-19	29	107				
DUS1L	64118	broad.mit.edu	37	17	80021368	80021368	+	Missense_Mutation	SNP	C	C	G	rs76779621		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:80021368C>G	ENST00000354321.7	-	3	858	c.373G>C	c.(373-375)Gag>Cag	p.E125Q	DUS1L_ENST00000306796.5_Missense_Mutation_p.E125Q			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	125							flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150)			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			AGGTCCCACTCGTCCTGCAGA	0.602																																						ENST00000354321.7																			0				breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6						c.(373-375)Gag>Cag		dihydrouridine synthase 1-like (S. cerevisiae)							193.0	167.0	176.0					17																	80021368		2203	4300	6503	SO:0001583	missense	64118				tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	g.chr17:80021368C>G		CCDS32775.1	17q25.3	2005-08-09				ENSG00000169718			30086	protein-coding gene	gene with protein product						12477932	Standard	NM_022156		Approved	PP3111, DUS1	uc002kdr.4	Q6P1R4		ENST00000354321.7:c.373G>C	17.37:g.80021368C>G	ENSP00000346280:p.Glu125Gln					DUS1L_ENST00000306796.5_Missense_Mutation_p.E125Q	p.E125Q			Q6P1R4	DUS1L_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)		3	858	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		125					A6NHV4|Q96AI3	Missense_Mutation	SNP	ENST00000354321.7	37	c.373G>C	CCDS32775.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.759465	0.31137	.	.	ENSG00000169718	ENST00000354321;ENST00000306796	T;T	0.23348	1.91;1.91	3.58	3.58	0.41010	Aldolase-type TIM barrel (1);	0.112098	0.64402	D	0.000015	T	0.44159	0.1280	M	0.62154	1.92	0.80722	D	1	P	0.52061	0.95	P	0.59703	0.862	T	0.49224	-0.8962	10	0.62326	D	0.03	-29.7654	15.3789	0.74637	0.0:1.0:0.0:0.0	.	125	Q6P1R4	DUS1L_HUMAN	Q	125	ENSP00000346280:E125Q;ENSP00000303515:E125Q	ENSP00000303515:E125Q	E	-	1	0	DUS1L	77614657	1.000000	0.71417	0.990000	0.47175	0.391000	0.30476	7.064000	0.76721	1.836000	0.53414	0.655000	0.94253	GAG		0.602	DUS1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442347.1	NM_022156		40	185	0	0	0	1	0	40	185				
DLL3	10683	broad.mit.edu	37	19	39994820	39994820	+	Silent	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:39994820C>T	ENST00000205143.4	+	5	769	c.762C>T	c.(760-762)acC>acT	p.T254T	DLL3_ENST00000356433.5_Silent_p.T254T	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	254					compartment pattern specification (GO:0007386)|negative regulation of neurogenesis (GO:0050768)|Notch signaling pathway (GO:0007219)|paraxial mesoderm development (GO:0048339)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)	integral component of membrane (GO:0016021)	Notch binding (GO:0005112)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CTGTCTCCACCAGCAGCTGCC	0.667																																						ENST00000205143.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19						c.(760-762)acC>acT		delta-like 3 (Drosophila)							60.0	59.0	59.0					19																	39994820		2203	4300	6503	SO:0001819	synonymous_variant	10683				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding	g.chr19:39994820C>T	AF241373	CCDS12537.1, CCDS12538.1	19q13.2	2008-05-14	2001-12-03			ENSG00000090932			2909	protein-coding gene	gene with protein product		602768	"""delta (Drosophila)-like 3"""			10364530, 10742114	Standard	NM_203486		Approved	SCDO1	uc002olx.2	Q9NYJ7		ENST00000205143.4:c.762C>T	19.37:g.39994820C>T						DLL3_ENST00000356433.5_Silent_p.T254T	p.T254T	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		5	769	+	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		254					E9PFG2|Q8NBS4	Silent	SNP	ENST00000205143.4	37	c.762C>T	CCDS12538.1																																																																																				0.667	DLL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464958.1			17	86	0	0	0	1	0	17	86				
GUK1	2987	broad.mit.edu	37	1	228336071	228336071	+	Splice_Site	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:228336071G>T	ENST00000366718.1	+	7	902		c.e7-1		GUK1_ENST00000366721.1_Splice_Site|GJC2_ENST00000366714.2_5'Flank|GUK1_ENST00000470040.1_Splice_Site|GUK1_ENST00000366730.1_Splice_Site|GUK1_ENST00000366723.1_Intron|GUK1_ENST00000366722.1_Splice_Site|GUK1_ENST00000366728.2_Intron|GUK1_ENST00000391865.3_Splice_Site|GUK1_ENST00000312726.4_Splice_Site|GUK1_ENST00000366716.1_Splice_Site|GUK1_ENST00000366726.1_Splice_Site	NM_001159391.1	NP_001152863.1	Q16774	KGUA_HUMAN	guanylate kinase 1						ATP metabolic process (GO:0046034)|dATP metabolic process (GO:0046060)|dGDP biosynthetic process (GO:0006185)|dGMP metabolic process (GO:0046054)|drug metabolic process (GO:0017144)|GDP biosynthetic process (GO:0046711)|GDP-mannose metabolic process (GO:0019673)|glycoprotein transport (GO:0034436)|GMP metabolic process (GO:0046037)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleotide metabolic process (GO:0006163)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			endometrium(2)|lung(5)|prostate(1)|soft_tissue(1)	9		Prostate(94;0.0405)				CCCACCCACAGGCAAGGAGCC	0.657																																						ENST00000366718.1																			0				endometrium(2)|lung(5)|prostate(1)|soft_tissue(1)	9						c.e7-1		guanylate kinase 1							33.0	33.0	33.0					1																	228336071		2201	4300	6501	SO:0001630	splice_region_variant	2987				nucleobase, nucleoside and nucleotide interconversion|purine nucleotide metabolic process	cytosol	ATP binding|guanylate kinase activity	g.chr1:228336071G>T	BC006249	CCDS1568.1, CCDS53481.1, CCDS55689.1	1q32-q41	2012-10-02			ENSG00000143774	ENSG00000143774	2.7.4.8		4693	protein-coding gene	gene with protein product		139270				8647247	Standard	NM_000858		Approved		uc021pkf.1	Q16774	OTTHUMG00000039503	ENST00000366718.1:c.476-1G>T	1.37:g.228336071G>T						GUK1_ENST00000470040.1_Splice_Site|GUK1_ENST00000391865.3_Splice_Site|GUK1_ENST00000366726.1_Splice_Site|GUK1_ENST00000366722.1_Splice_Site|GUK1_ENST00000366716.1_Splice_Site|GUK1_ENST00000366728.2_Intron|GUK1_ENST00000366730.1_Splice_Site|GUK1_ENST00000366723.1_Intron|GUK1_ENST00000366721.1_Splice_Site|GUK1_ENST00000312726.4_Splice_Site		NM_001159391.1	NP_001152863.1	Q16774	KGUA_HUMAN			7	902	+		Prostate(94;0.0405)						B1ANH1	Splice_Site	SNP	ENST00000366718.1	37		CCDS1568.1	.	.	.	.	.	.	.	.	.	.	g	12.14	1.849228	0.32699	.	.	ENSG00000143774	ENST00000366730;ENST00000391865;ENST00000366726;ENST00000312726;ENST00000453943;ENST00000366722;ENST00000366721;ENST00000412265;ENST00000366718;ENST00000366716	.	.	.	2.11	2.11	0.27256	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7894	0.52061	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GUK1	226402694	1.000000	0.71417	0.901000	0.35422	0.467000	0.32768	5.721000	0.68477	0.980000	0.38523	0.298000	0.19748	.		0.657	GUK1-021	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000095944.1	NM_000858	Intron	15	24	1	0	1.3612e-06	1	1.55221e-06	15	24				
TECRL	253017	broad.mit.edu	37	4	65188508	65188508	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:65188508C>G	ENST00000381210.3	-	4	444	c.334G>C	c.(334-336)Ggg>Cgg	p.G112R	TECRL_ENST00000513125.1_5'Flank|TECRL_ENST00000507440.1_Missense_Mutation_p.G112R	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	112					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						AAAAAAGGCCCGCCtaaaata	0.323																																						ENST00000381210.3																			0				endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						c.(334-336)Ggg>Cgg		trans-2,3-enoyl-CoA reductase-like							40.0	41.0	40.0					4																	65188508		2203	4300	6503	SO:0001583	missense	253017				lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	g.chr4:65188508C>G	AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"""glycoprotein, synaptic 2-like"""					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.334G>C	4.37:g.65188508C>G	ENSP00000370607:p.Gly112Arg					TECRL_ENST00000507440.1_Missense_Mutation_p.G112R	p.G112R	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN			4	444	-			112						Missense_Mutation	SNP	ENST00000381210.3	37	c.334G>C	CCDS33990.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.720332	0.48728	.	.	ENSG00000205678	ENST00000507440;ENST00000381210;ENST00000509536	T;T;T	0.40756	1.02;1.02;1.02	5.78	5.78	0.91487	.	0.172677	0.51477	D	0.000096	T	0.67344	0.2883	M	0.83012	2.62	0.58432	D	0.999991	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.957	T	0.69910	-0.5017	10	0.56958	D	0.05	-2.3695	15.4919	0.75611	0.0:1.0:0.0:0.0	.	112;112	Q6IN47;Q5HYJ1	.;TECRL_HUMAN	R	112	ENSP00000426043:G112R;ENSP00000370607:G112R;ENSP00000422497:G112R	ENSP00000370607:G112R	G	-	1	0	TECRL	64871103	1.000000	0.71417	0.986000	0.45419	0.051000	0.14879	4.729000	0.62008	2.728000	0.93425	0.585000	0.79938	GGG		0.323	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874		6	29	0	0	0	1	0	6	29				
BCAT1	586	broad.mit.edu	37	12	25047240	25047240	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:25047240G>A	ENST00000261192.7	-	3	774	c.248C>T	c.(247-249)cCt>cTt	p.P83L	BCAT1_ENST00000538118.1_Missense_Mutation_p.P82L|BCAT1_ENST00000539780.1_Missense_Mutation_p.P83L|BCAT1_ENST00000342945.5_Missense_Mutation_p.P59L|BCAT1_ENST00000539282.1_Missense_Mutation_p.P95L|BCAT1_ENST00000544418.1_5'UTR	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	83					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cell proliferation (GO:0008283)|cellular nitrogen compound metabolic process (GO:0034641)|G1/S transition of mitotic cell cycle (GO:0000082)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)	TGATGAGCCAGGGTGCAATGA	0.478																																						ENST00000261192.7																			0				breast(1)|large_intestine(1)|lung(3)|prostate(2)	7						c.(247-249)cCt>cTt		branched chain amino-acid transaminase 1, cytosolic	Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)						102.0	101.0	101.0					12																	25047240		1988	4165	6153	SO:0001583	missense	586				branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity	g.chr12:25047240G>A		CCDS44845.1, CCDS53760.1, CCDS53761.1, CCDS53762.1, CCDS53763.1	12p12.1	2012-10-02	2010-05-07		ENSG00000060982	ENSG00000060982	2.6.1.42		976	protein-coding gene	gene with protein product		113520	"""branched chain aminotransferase 1, cytosolic"""	BCT1		9165094	Standard	NM_005504		Approved		uc010six.2	P54687	OTTHUMG00000169053	ENST00000261192.7:c.248C>T	12.37:g.25047240G>A	ENSP00000261192:p.Pro83Leu					BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000538118.1_Missense_Mutation_p.P82L|BCAT1_ENST00000539282.1_Missense_Mutation_p.P95L|BCAT1_ENST00000539780.1_Missense_Mutation_p.P83L|BCAT1_ENST00000342945.5_Missense_Mutation_p.P59L	p.P83L	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN			3	774	-	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)		83					B3KY27|B7Z2M5|B7Z5L0|F5H5E4|Q68DQ7|Q96MY9	Missense_Mutation	SNP	ENST00000261192.7	37	c.248C>T	CCDS44845.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.249624	0.80024	.	.	ENSG00000060982	ENST00000261192;ENST00000538118;ENST00000342945;ENST00000539282;ENST00000539780;ENST00000546285	T;T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46;0.46	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.84973	0.5591	H	0.98833	4.345	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	0.90710	0.4627	10	0.87932	D	0	3.4765	19.8764	0.96873	0.0:0.0:1.0:0.0	.	83;95;59;83;82	B7Z5L0;F5H5E4;B3KY27;P54687;Q68DQ7	.;.;.;BCAT1_HUMAN;.	L	83;82;59;95;83;59	ENSP00000261192:P83L;ENSP00000440817:P82L;ENSP00000339805:P59L;ENSP00000443459:P95L;ENSP00000440827:P83L;ENSP00000438593:P59L	ENSP00000261192:P83L	P	-	2	0	BCAT1	24938507	1.000000	0.71417	0.657000	0.29651	0.310000	0.27922	8.847000	0.92166	2.768000	0.95171	0.655000	0.94253	CCT		0.478	BCAT1-001	KNOWN	upstream_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402080.1	NM_005504		10	33	0	0	0	1	0	10	33				
SERPINA5	5104	broad.mit.edu	37	14	95054204	95054204	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr14:95054204A>T	ENST00000554866.1	+	2	619	c.505A>T	c.(505-507)Atg>Ttg	p.M169L	SERPINA5_ENST00000554276.1_Missense_Mutation_p.M169L|SERPINA5_ENST00000553780.1_Missense_Mutation_p.M169L|SERPINA5_ENST00000329597.7_Missense_Mutation_p.M169L			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	169					fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TGCAGGGGCCATGAAGCAGAT	0.498																																						ENST00000329597.7																			0				endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36						c.(505-507)Atg>Ttg		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	Drotrecogin alfa(DB00055)|Urokinase(DB00013)						97.0	87.0	90.0					14																	95054204		2203	4300	6503	SO:0001583	missense	5104				fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr14:95054204A>T	M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"""Serine (or cysteine) peptidase inhibitors"""	8723	protein-coding gene	gene with protein product		601841	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"""	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.505A>T	14.37:g.95054204A>T	ENSP00000451126:p.Met169Leu					SERPINA5_ENST00000553780.1_Missense_Mutation_p.M169L|SERPINA5_ENST00000554866.1_Missense_Mutation_p.M169L|SERPINA5_ENST00000554276.1_Missense_Mutation_p.M169L	p.M169L	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	3	715	+			169					Q07616|Q9UG30	Missense_Mutation	SNP	ENST00000554866.1	37	c.505A>T	CCDS9928.1	.	.	.	.	.	.	.	.	.	.	A	10.28	1.307632	0.23821	.	.	ENSG00000188488	ENST00000554220;ENST00000553780;ENST00000554760;ENST00000554866;ENST00000329597;ENST00000556775;ENST00000537685;ENST00000438291;ENST00000554276	D;D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	3.74	-6.35	0.01975	Serpin domain (3);	1.430160	0.04582	N	0.395053	T	0.62732	0.2452	N	0.01109	-1.01	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.50701	-0.8797	10	0.51188	T	0.08	.	19.4713	0.94963	0.8631:0.1369:0.0:0.0	.	169;169	G3V5Q9;P05154	.;IPSP_HUMAN	L	169;169;169;169;169;169;21;93;169	ENSP00000450484:M169L;ENSP00000450837:M169L;ENSP00000452469:M169L;ENSP00000451126:M169L;ENSP00000333203:M169L;ENSP00000450745:M169L;ENSP00000451610:M169L	ENSP00000333203:M169L	M	+	1	0	SERPINA5	94123957	0.000000	0.05858	0.008000	0.14137	0.008000	0.06430	-1.569000	0.02142	-1.460000	0.01911	-1.343000	0.01246	ATG		0.498	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410726.1	NM_000624		31	92	0	0	0	1	0	31	92				
PHF12	57649	broad.mit.edu	37	17	27244340	27244340	+	Missense_Mutation	SNP	C	C	A	rs373423538		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:27244340C>A	ENST00000332830.4	-	7	1907	c.1097G>T	c.(1096-1098)cGg>cTg	p.R366L	PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000577226.1_Missense_Mutation_p.R366L|PHF12_ENST00000268756.3_Missense_Mutation_p.R366L	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			GAGCACACGCCGGTTAGGGGG	0.527																																						ENST00000577226.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(1096-1098)cGg>cTg		PHD finger protein 12							109.0	98.0	102.0					17																	27244340		2203	4300	6503	SO:0001583	missense	57649				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding	g.chr17:27244340C>A	AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.1097G>T	17.37:g.27244340C>A	ENSP00000329933:p.Arg366Leu					PHF12_ENST00000332830.4_Missense_Mutation_p.R366L|PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000268756.3_Missense_Mutation_p.R366L	p.R366L			Q96QT6	PHF12_HUMAN	Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)		7	1443	-	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		366			Interaction with SIN3A.			Missense_Mutation	SNP	ENST00000332830.4	37	c.1097G>T	CCDS32598.1	.	.	.	.	.	.	.	.	.	.	C	35	5.456942	0.96223	.	.	ENSG00000109118	ENST00000332830;ENST00000378879;ENST00000268756	T;T;T	0.27557	1.66;1.66;1.66	5.88	4.86	0.63082	.	0.051230	0.85682	D	0.000000	T	0.47358	0.1441	L	0.53249	1.67	0.80722	D	1	D;D;D;D;D	0.69078	0.976;0.961;0.991;0.997;0.976	P;P;P;P;P	0.60789	0.749;0.738;0.761;0.879;0.749	T	0.43972	-0.9358	10	0.87932	D	0	.	15.2751	0.73737	0.0:0.8595:0.1405:0.0	.	348;366;366;366;366	B4DFE2;Q96QT6-2;Q2TAK2;C9J9G2;Q96QT6	.;.;.;.;PHF12_HUMAN	L	366	ENSP00000329933:R366L;ENSP00000368157:R366L;ENSP00000268756:R366L	ENSP00000268756:R366L	R	-	2	0	PHF12	24268466	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.998000	0.70653	2.794000	0.96219	0.655000	0.94253	CGG		0.527	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	NM_020889		18	100	1	0	4.63292e-17	1	6.47938e-17	18	100				
KIRREL3	84623	broad.mit.edu	37	11	126314917	126314917	+	Silent	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:126314917G>T	ENST00000525144.2	-	10	1458	c.1209C>A	c.(1207-1209)ccC>ccA	p.P403P	KIRREL3_ENST00000529097.2_Silent_p.P403P|KIRREL3_ENST00000525704.2_Silent_p.P403P	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	403	Ig-like C2-type 4.				hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CTCCCACACGGGGCACCACAG	0.632																																						ENST00000525144.2																			0				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29						c.(1207-1209)ccC>ccA		kin of IRRE like 3 (Drosophila)							59.0	66.0	63.0					11																	126314917		2107	4198	6305	SO:0001819	synonymous_variant	84623				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	g.chr11:126314917G>T	AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.1209C>A	11.37:g.126314917G>T						KIRREL3_ENST00000529097.2_Silent_p.P403P|KIRREL3_ENST00000525704.2_Silent_p.P403P	p.P403P	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)	10	1458	-	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)	403			Ig-like C2-type 4.		Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Silent	SNP	ENST00000525144.2	37	c.1209C>A	CCDS53723.1																																																																																				0.632	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531		12	58	1	0	4.3838e-07	1	5.05119e-07	12	58				
ZNF585B	92285	broad.mit.edu	37	19	37678135	37678135	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:37678135A>T	ENST00000532828.2	-	5	555	c.304T>A	c.(304-306)Tgg>Agg	p.W102R	ZNF585B_ENST00000531805.1_Missense_Mutation_p.W47R|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_5'Flank|ZNF585B_ENST00000527838.1_Missense_Mutation_p.W102R	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	102					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)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.W102T(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTATGGTCCCATAATTTCTCT	0.333																																					Melanoma(93;882 1454 18863 28917 48427)	ENST00000532828.2																			1	Substitution - Missense(1)	p.W102T(1)	lung(1)	NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29						c.(304-306)Tgg>Agg		zinc finger protein 585B							47.0	51.0	49.0					19																	37678135		2202	4282	6484	SO:0001583	missense	92285				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37678135A>T	AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.304T>A	19.37:g.37678135A>T	ENSP00000433773:p.Trp102Arg					ZNF585B_ENST00000531805.1_Missense_Mutation_p.W47R|ZNF585B_ENST00000527838.1_Missense_Mutation_p.W102R|CTC-454I21.3_ENST00000585860.2_Intron	p.W102R	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	555	-			102					Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	37	c.304T>A	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	A	2.935	-0.220234	0.06061	.	.	ENSG00000245680	ENST00000531805;ENST00000532828;ENST00000527838	T;T;T	0.08458	3.09;3.13;6.8	2.88	-4.64	0.03349	.	1.809090	0.03388	N	0.201441	T	0.04724	0.0128	N	0.12746	0.255	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39702	-0.9601	10	0.37606	T	0.19	.	6.1307	0.20203	0.363:0.15:0.487:0.0	.	102	Q52M93	Z585B_HUMAN	R	47;102;102	ENSP00000436774:W47R;ENSP00000433773:W102R;ENSP00000435268:W102R	ENSP00000435268:W102R	W	-	1	0	ZNF585B	42369975	0.001000	0.12720	0.290000	0.24890	0.415000	0.31203	1.351000	0.34022	-1.049000	0.03234	-0.475000	0.04921	TGG		0.333	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279		22	90	0	0	0	1	0	22	90				
CDH23	64072	broad.mit.edu	37	10	73270912	73270912	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:73270912T>A	ENST00000224721.6	+	5	377	c.372T>A	c.(370-372)gaT>gaA	p.D124E	CDH23_ENST00000461841.3_Missense_Mutation_p.D169E|CDH23-AS1_ENST00000428918.1_RNA|CDH23_ENST00000299366.7_Missense_Mutation_p.D169E|CDH23_ENST00000398842.3_Missense_Mutation_p.D124E|CDH23_ENST00000398809.4_Missense_Mutation_p.D124E	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	124	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.		D -> G (in DFNB12). {ECO:0000269|PubMed:12075507}.		calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						AGGTTGGGGATGTGAATGACA	0.582																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(370-372)gaT>gaA		cadherin-related 23							112.0	121.0	118.0					10																	73270912		2027	4185	6212	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73270912T>A	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.372T>A	10.37:g.73270912T>A	ENSP00000224721:p.Asp124Glu					CDH23_ENST00000299366.7_Missense_Mutation_p.D169E|CDH23-AS1_ENST00000428918.1_RNA|CDH23_ENST00000461841.3_Missense_Mutation_p.D169E|CDH23_ENST00000398809.4_Missense_Mutation_p.D124E|CDH23_ENST00000398842.3_Missense_Mutation_p.D124E	p.D124E	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			5	377	+			124		D -> G (in DFNB12).	Cadherin 1.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.372T>A		.	.	.	.	.	.	.	.	.	.	T	19.56	3.850357	0.71719	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000398809;ENST00000398842;ENST00000299366;ENST00000224721;ENST00000416060	T;T	0.75154	-0.91;-0.91	5.58	-6.65	0.01795	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.64402	D	0.000002	D	0.84110	0.5400	M	0.87758	2.905	0.80722	D	1	B;D;B;P	0.58970	0.079;0.984;0.068;0.917	B;D;B;D	0.74023	0.037;0.982;0.045;0.95	D	0.86000	0.1494	10	0.66056	D	0.02	.	15.3595	0.74460	0.0:0.2673:0.0:0.7327	.	124;124;124;124	A5D6V9;Q9H251;Q9H251-5;E7ESV7	.;CAD23_HUMAN;.;.	E	124;124;124;124;124;124;124;65	ENSP00000381789:D124E;ENSP00000381822:D124E	ENSP00000224721:D124E	D	+	3	2	CDH23	72940918	0.014000	0.17966	0.861000	0.33841	0.584000	0.36387	-1.263000	0.02850	-1.377000	0.02123	0.379000	0.24179	GAT		0.582	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		21	102	0	0	0	1	0	21	102				
OR52N1	79473	broad.mit.edu	37	11	5809661	5809661	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:5809661C>A	ENST00000317078.1	-	1	385	c.386G>T	c.(385-387)tGc>tTc	p.C129F	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	129						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		CAGAGGGAAGCAGATGGCCAC	0.517																																						ENST00000317078.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31						c.(385-387)tGc>tTc		olfactory receptor, family 52, subfamily N, member 1							153.0	132.0	139.0					11																	5809661		2201	4296	6497	SO:0001583	missense	79473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5809661C>A	AB065538	CCDS31398.1	11p15.4	2012-08-09			ENSG00000181001	ENSG00000181001		"""GPCR / Class A : Olfactory receptors"""	14853	protein-coding gene	gene with protein product							Standard	NM_001001913		Approved		uc010qzo.2	Q8NH53	OTTHUMG00000168800	ENST00000317078.1:c.386G>T	11.37:g.5809661C>A	ENSP00000322823:p.Cys129Phe					TRIM5_ENST00000380027.1_Intron	p.C129F	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)	1	385	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	129					Q6IFF6	Missense_Mutation	SNP	ENST00000317078.1	37	c.386G>T	CCDS31398.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365919	0.61513	.	.	ENSG00000181001	ENST00000317078	T	0.34472	1.36	4.59	4.59	0.56863	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000042	T	0.72112	0.3420	H	0.95884	3.735	0.47994	D	0.999564	D	0.89917	1.0	D	0.91635	0.999	T	0.82309	-0.0521	10	0.87932	D	0	.	16.492	0.84203	0.0:1.0:0.0:0.0	.	129	Q8NH53	O52N1_HUMAN	F	129	ENSP00000322823:C129F	ENSP00000322823:C129F	C	-	2	0	OR52N1	5766237	0.980000	0.34600	1.000000	0.80357	0.618000	0.37518	2.531000	0.45650	2.528000	0.85240	0.609000	0.83330	TGC		0.517	OR52N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401142.1	NM_001001913		22	108	1	0	0.000295444	1	0.000313731	22	108				
PRAMEF4	400735	broad.mit.edu	37	1	12943024	12943024	+	Silent	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:12943024G>A	ENST00000235349.5	-	2	262	c.192C>T	c.(190-192)cgC>cgT	p.R64R		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	64					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGGAGGCGGCGGAAGGGCC	0.597																																						ENST00000235349.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24						c.(190-192)cgC>cgT		PRAME family member 4							40.0	45.0	43.0					1																	12943024		2186	4267	6453	SO:0001819	synonymous_variant	400735							g.chr1:12943024G>A		CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"""-"""	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.192C>T	1.37:g.12943024G>A							p.R64R	NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	262	-	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	64					Q5LJB5	Silent	SNP	ENST00000235349.5	37	c.192C>T	CCDS30592.1																																																																																				0.597	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005518.1	NM_001009611		41	119	0	0	0	1	0	41	119				
LPA	4018	broad.mit.edu	37	6	161007653	161007653	+	Silent	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:161007653G>C	ENST00000316300.5	-	25	4001	c.3957C>G	c.(3955-3957)acC>acG	p.T1319T	LPA_ENST00000447678.1_Silent_p.T1319T			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3827	Kringle 12. {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)	AGTAGTTCCTGGTCAGGCCAC	0.478																																						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.(3955-3957)acC>acG		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						84.0	83.0	84.0					6																	161007653		2188	4296	6484	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.chr6:161007653G>C	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3957C>G	6.37:g.161007653G>C						LPA_ENST00000316300.5_Silent_p.T1319T	p.T1319T	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)	26	4077	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3827			Kringle 12.		Q5VTD7|Q9UD88	Silent	SNP	ENST00000316300.5	37	c.3957C>G	CCDS43523.1																																																																																				0.478	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		31	50	0	0	0	1	0	31	50				
MKL2	57496	broad.mit.edu	37	16	14312814	14312814	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr16:14312814A>C	ENST00000341243.5	+	6	619	c.619A>C	c.(619-621)Agt>Cgt	p.S207R	MKL2_ENST00000573051.1_Missense_Mutation_p.S167R|MKL2_ENST00000574045.1_Missense_Mutation_p.S218R|MKL2_ENST00000572567.1_Missense_Mutation_p.S207R|MKL2_ENST00000318282.5_Missense_Mutation_p.S218R|MKL2_ENST00000571589.1_Missense_Mutation_p.S218R			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	207					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCCAAAAGTTAGTGAATCGCC	0.463																																						ENST00000571589.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(652-654)Agt>Cgt		MKL/myocardin-like 2							92.0	84.0	87.0					16																	14312814		2197	4300	6497	SO:0001583	missense	57496				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	g.chr16:14312814A>C	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.619A>C	16.37:g.14312814A>C	ENSP00000345841:p.Ser207Arg					MKL2_ENST00000572567.1_Missense_Mutation_p.S207R|MKL2_ENST00000573051.1_Missense_Mutation_p.S167R|MKL2_ENST00000318282.5_Missense_Mutation_p.S218R|MKL2_ENST00000574045.1_Missense_Mutation_p.S218R|MKL2_ENST00000341243.5_Missense_Mutation_p.S207R	p.S218R	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN			8	824	+			207					A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	ENST00000341243.5	37	c.652A>C		.	.	.	.	.	.	.	.	.	.	A	15.34	2.805886	0.50421	.	.	ENSG00000186260	ENST00000318282;ENST00000389126;ENST00000341243	.	.	.	5.52	5.52	0.82312	.	0.293039	0.43416	D	0.000568	T	0.58221	0.2107	M	0.73962	2.25	0.34860	D	0.742572	P;P;B;B	0.49090	0.919;0.868;0.0;0.101	P;B;B;B	0.45506	0.483;0.289;0.002;0.101	T	0.71371	-0.4613	9	0.36615	T	0.2	-1.6367	14.8574	0.70347	1.0:0.0:0.0:0.0	.	167;218;207;218	Q9ULH7-2;B4DGT8;Q9ULH7;Q9ULH7-4	.;.;MKL2_HUMAN;.	R	218;207;207	.	ENSP00000339086:S218R	S	+	1	0	MKL2	14220315	0.958000	0.32768	0.967000	0.41034	0.999000	0.98932	3.649000	0.54417	2.106000	0.64143	0.529000	0.55759	AGT		0.463	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048		14	75	0	0	0	1	0	14	75				
C12orf50	160419	broad.mit.edu	37	12	88379699	88379699	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:88379699G>C	ENST00000298699.2	-	11	1234	c.1054C>G	c.(1054-1056)Cgc>Ggc	p.R352G	C12orf50_ENST00000550553.1_Missense_Mutation_p.R313G	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	352								p.R352S(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						GGCCTGCTGCGGGAAGGTGCA	0.483																																						ENST00000298699.2																			1	Substitution - Missense(1)	p.R352S(1)	lung(1)	NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						c.(1054-1056)Cgc>Ggc		chromosome 12 open reading frame 50							203.0	194.0	197.0					12																	88379699		2203	4300	6503	SO:0001583	missense	160419							g.chr12:88379699G>C	AK093140	CCDS9031.1	12q21.32	2006-02-03				ENSG00000165805			26665	protein-coding gene	gene with protein product						12477932	Standard	NM_152589		Approved	FLJ35821	uc001tam.1	Q8NA57	OTTHUMG00000169869	ENST00000298699.2:c.1054C>G	12.37:g.88379699G>C	ENSP00000298699:p.Arg352Gly					C12orf50_ENST00000550553.1_Missense_Mutation_p.R313G	p.R352G	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN			11	1234	-			352					Q6P674	Missense_Mutation	SNP	ENST00000298699.2	37	c.1054C>G	CCDS9031.1	.	.	.	.	.	.	.	.	.	.	G	2.860	-0.236279	0.05944	.	.	ENSG00000165805	ENST00000298699;ENST00000550553;ENST00000551944	T;T	0.32753	1.45;1.44	5.73	1.92	0.25849	.	0.741852	0.13267	N	0.400795	T	0.28234	0.0697	L	0.57536	1.79	0.21861	N	0.999508	B;B	0.28400	0.21;0.151	B;B	0.28553	0.091;0.09	T	0.17715	-1.0360	10	0.33141	T	0.24	.	8.6431	0.33989	0.3058:0.0:0.6942:0.0	.	367;352	G3V208;Q8NA57	.;CL050_HUMAN	G	352;313;367	ENSP00000298699:R352G;ENSP00000448344:R313G	ENSP00000298699:R352G	R	-	1	0	C12orf50	86903830	0.021000	0.18746	0.897000	0.35233	0.267000	0.26476	0.305000	0.19254	0.088000	0.17205	0.650000	0.86243	CGC		0.483	C12orf50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406328.1	NM_152589		34	147	0	0	0	1	0	34	147				
DCDC2	51473	broad.mit.edu	37	6	24178680	24178680	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:24178680C>A	ENST00000378454.3	-	9	1505	c.1204G>T	c.(1204-1206)Gct>Tct	p.A402S	DCDC2_ENST00000378450.3_Missense_Mutation_p.A155S	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	402					cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				TTTACACGAGCAGGGCGTGCC	0.517																																						ENST00000378454.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1204-1206)Gct>Tct		doublecortin domain containing 2							187.0	164.0	172.0					6																	24178680		2203	4300	6503	SO:0001583	missense	51473				cellular defense response|intracellular signal transduction|neuron migration			g.chr6:24178680C>A	AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.1204G>T	6.37:g.24178680C>A	ENSP00000367715:p.Ala402Ser					DCDC2_ENST00000378450.3_Missense_Mutation_p.A155S	p.A402S	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN			9	1505	-		Ovarian(999;0.101)	402					Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Missense_Mutation	SNP	ENST00000378454.3	37	c.1204G>T	CCDS4550.1	.	.	.	.	.	.	.	.	.	.	c	10.13	1.265765	0.23136	.	.	ENSG00000146038	ENST00000378454;ENST00000378450	T;T	0.46063	4.28;0.88	5.43	-0.36	0.12568	.	1.148350	0.06222	N	0.686941	T	0.07324	0.0185	N	0.14661	0.345	0.09310	N	1	B;B	0.19583	0.003;0.037	B;B	0.26094	0.001;0.066	T	0.30679	-0.9970	10	0.15499	T	0.54	-1.3535	1.9907	0.03445	0.1456:0.3328:0.3427:0.1789	.	402;155	Q9UHG0;Q9UHG0-2	DCDC2_HUMAN;.	S	402;155	ENSP00000367715:A402S;ENSP00000367711:A155S	ENSP00000367711:A155S	A	-	1	0	DCDC2	24286659	0.013000	0.17824	0.000000	0.03702	0.003000	0.03518	-0.203000	0.09438	0.052000	0.16007	-0.170000	0.13304	GCT		0.517	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043604.1	NM_016356		53	149	1	0	2.43468e-25	1	3.65676e-25	53	149				
ADCY2	108	broad.mit.edu	37	5	7626343	7626343	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:7626343A>T	ENST00000338316.4	+	4	723	c.634A>T	c.(634-636)Atg>Ttg	p.M212L		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	212					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)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|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)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TAAGCACCTCATGGAACTCGC	0.453																																						ENST00000338316.4																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(634-636)Atg>Ttg		adenylate cyclase 2 (brain)							160.0	154.0	156.0					5																	7626343		2203	4300	6503	SO:0001583	missense	108				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	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7626343A>T	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.634A>T	5.37:g.7626343A>T	ENSP00000342952:p.Met212Leu						p.M212L	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN			4	723	+			212					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.634A>T	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	A	19.03	3.747323	0.69533	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000515681	T	0.75260	-0.92	5.09	5.09	0.68999	.	0.099847	0.64402	D	0.000001	T	0.72867	0.3514	M	0.69463	2.115	0.80722	D	1	B	0.21309	0.054	B	0.28784	0.094	T	0.69461	-0.5139	10	0.33141	T	0.24	.	12.9201	0.58226	1.0:0.0:0.0:0.0	.	212	Q08462	ADCY2_HUMAN	L	212;63;1	ENSP00000342952:M212L	ENSP00000342952:M212L	M	+	1	0	ADCY2	7679343	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.530000	0.90606	2.039000	0.60335	0.533000	0.62120	ATG		0.453	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		32	136	0	0	0	1	0	32	136				
PCDHGA8	9708	broad.mit.edu	37	5	140774565	140774565	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:140774565G>T	ENST00000398604.2	+	1	2185	c.2185G>T	c.(2185-2187)Ggt>Tgt	p.G729C	PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	729					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGGATTCCGGTGGCAGATT	0.602																																						ENST00000398604.2																			0				endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(2185-2187)Ggt>Tgt									51.0	56.0	54.0					5																	140774565		2192	4295	6487	SO:0001583	missense	9708							g.chr5:140774565G>T	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.2185G>T	5.37:g.140774565G>T	ENSP00000381605:p.Gly729Cys					PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron	p.G729C	NM_032088.1	NP_114477.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2185	+								A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	37	c.2185G>T	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	12.80	2.047730	0.36085	.	.	ENSG00000253767	ENST00000398604	T	0.49432	0.78	4.5	-4.41	0.03590	.	3.133360	0.02924	U	0.138354	T	0.71281	0.3321	M	0.89715	3.055	0.09310	N	1	D;D	0.56521	0.965;0.976	P;P	0.62435	0.902;0.838	T	0.69277	-0.5187	10	0.40728	T	0.16	.	13.7704	0.63021	0.8194:0.0:0.1806:0.0	.	729;729	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	C	729	ENSP00000381605:G729C	ENSP00000381605:G729C	G	+	1	0	PCDHGA8	140754749	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.401000	0.07232	-0.949000	0.03663	-1.616000	0.00795	GGT		0.602	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		11	47	1	0	0.000673444	1	0.00070447	11	47				
ATIC	471	broad.mit.edu	37	2	216182916	216182916	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:216182916G>T	ENST00000236959.9	+	3	509	c.183G>T	c.(181-183)ttG>ttT	p.L61F	ATIC_ENST00000540518.1_Missense_Mutation_p.L2F|ATIC_ENST00000435675.1_Missense_Mutation_p.L60F	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	61					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|dihydrofolate metabolic process (GO:0046452)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	IMP cyclohydrolase activity (GO:0003937)|phosphoribosylaminoimidazolecarboxamide formyltransferase activity (GO:0004643)|protein homodimerization activity (GO:0042803)		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)	CTGAAATGTTGGGGGGACGTG	0.393			T	ALK	ALCL																																	ENST00000435675.1				Dom	yes		2	2q35	471	T	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase			L	ALK		ALCL	ATIC/ALK(24)	0				large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.(178-180)ttG>ttT		5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	Tetrahydrofolic acid(DB00116)						180.0	170.0	173.0					2																	216182916		2203	4300	6503	SO:0001583	missense	471				IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity	g.chr2:216182916G>T		CCDS2398.1	2q35	2010-04-27			ENSG00000138363	ENSG00000138363	2.1.2.3, 3.5.4.10		794	protein-coding gene	gene with protein product	"""phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase"""	601731				8567683, 9378707	Standard	NM_004044		Approved	PURH, AICARFT, IMPCHASE	uc002vex.4	P31939	OTTHUMG00000133023	ENST00000236959.9:c.183G>T	2.37:g.216182916G>T	ENSP00000236959:p.Leu61Phe					ATIC_ENST00000236959.9_Missense_Mutation_p.L61F|ATIC_ENST00000540518.1_Missense_Mutation_p.L2F	p.L60F			P31939	PUR9_HUMAN		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	2	571	+		Renal(323;0.229)	61					A8K202|E9PBU3|Q13856|Q53S28	Missense_Mutation	SNP	ENST00000236959.9	37	c.180G>T	CCDS2398.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.598893	0.66332	.	.	ENSG00000138363	ENST00000236959;ENST00000540518;ENST00000435675;ENST00000413174	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	5.26	2.58	0.30949	Methylglyoxal synthase-like domain (4);	0.000000	0.85682	D	0.000000	T	0.70404	0.3220	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.69030	-0.5253	10	0.87932	D	0	-9.3358	7.0945	0.25301	0.6116:0.0:0.3884:0.0	.	60;61	E9PBU3;P31939	.;PUR9_HUMAN	F	61;2;60;2	ENSP00000236959:L61F;ENSP00000440523:L2F;ENSP00000415935:L60F;ENSP00000402393:L2F	ENSP00000236959:L61F	L	+	3	2	ATIC	215891161	0.990000	0.36364	1.000000	0.80357	0.975000	0.68041	0.189000	0.17037	0.286000	0.22352	0.655000	0.94253	TTG		0.393	ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256610.1	NM_004044		28	141	1	0	1.88708e-17	1	2.64878e-17	28	141				
CCDC170	80129	broad.mit.edu	37	6	151939269	151939269	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:151939269A>G	ENST00000239374.7	+	11	2234	c.2135A>G	c.(2134-2136)cAg>cGg	p.Q712R	CCDC170_ENST00000367290.5_Missense_Mutation_p.Q719R|RNU6-813P_ENST00000384691.1_RNA	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	712																	GGCCATTTACAGCTTCTTCAT	0.438																																						ENST00000367290.5																			0											c.(2155-2157)cAg>cGg		coiled-coil domain containing 170							85.0	81.0	82.0					6																	151939269		1962	4151	6113	SO:0001583	missense	80129							g.chr6:151939269A>G	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.2135A>G	6.37:g.151939269A>G	ENSP00000239374:p.Gln712Arg					CCDC170_ENST00000239374.7_Missense_Mutation_p.Q712R	p.Q719R			Q8IYT3	CF097_HUMAN			11	2245	+			712					Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	c.2156A>G	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	A	13.86	2.363279	0.41902	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.08370	3.11;3.1	5.96	5.96	0.96718	.	0.610776	0.16239	N	0.223239	T	0.03095	0.0091	L	0.40543	1.245	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.29366	-1.0014	10	0.54805	T	0.06	-6.4227	8.7112	0.34385	0.8593:0.0:0.1407:0.0	.	712	Q8IYT3	CF097_HUMAN	R	712;719	ENSP00000239374:Q712R;ENSP00000356259:Q719R	ENSP00000239374:Q712R	Q	+	2	0	C6orf97	151980962	0.011000	0.17503	0.004000	0.12327	0.373000	0.29922	1.989000	0.40707	2.280000	0.76307	0.533000	0.62120	CAG		0.438	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		14	62	0	0	0	1	0	14	62				
ARHGEF40	55701	broad.mit.edu	37	14	21542698	21542698	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr14:21542698C>A	ENST00000298694.4	+	3	936	c.809C>A	c.(808-810)aCg>aAg	p.T270K	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.T270K			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	270						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						AGAGTCCGGACGGTACCCACC	0.687																																						ENST00000298694.4																			0				large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						c.(808-810)aCg>aAg		Rho guanine nucleotide exchange factor (GEF) 40							14.0	18.0	17.0					14																	21542698		2166	4274	6440	SO:0001583	missense	55701				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr14:21542698C>A		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"""Rho guanine nucleotide exchange factors"""	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.809C>A	14.37:g.21542698C>A	ENSP00000298694:p.Thr270Lys					ARHGEF40_ENST00000298693.3_Missense_Mutation_p.T270K	p.T270K			Q8TER5	ARH40_HUMAN			3	936	+			270					A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Missense_Mutation	SNP	ENST00000298694.4	37	c.809C>A	CCDS32041.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.548023	0.27652	.	.	ENSG00000165801	ENST00000298694;ENST00000555038;ENST00000298693	T;T	0.03413	3.98;3.94	5.03	5.03	0.67393	.	0.000000	0.48286	D	0.000193	T	0.09949	0.0244	L	0.27053	0.805	0.27517	N	0.951521	D;D	0.76494	0.993;0.999	P;D	0.72982	0.814;0.979	T	0.07849	-1.0751	10	0.46703	T	0.11	.	15.8646	0.79055	0.0:1.0:0.0:0.0	.	270;270	Q8TER5;G3V3N2	ARH40_HUMAN;.	K	270	ENSP00000298694:T270K;ENSP00000298693:T270K	ENSP00000298693:T270K	T	+	2	0	ARHGEF40	20612538	0.979000	0.34478	0.922000	0.36590	0.024000	0.10985	2.707000	0.47143	2.338000	0.79540	0.561000	0.74099	ACG		0.687	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			5	12	1	0	3.59834e-05	1	3.9459e-05	5	12				
VPS13A	23230	broad.mit.edu	37	9	79952206	79952206	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:79952206A>C	ENST00000360280.3	+	47	6391	c.6131A>C	c.(6130-6132)tAt>tCt	p.Y2044S	VPS13A_ENST00000376634.4_Missense_Mutation_p.Y2044S|VPS13A_ENST00000376636.3_Missense_Mutation_p.Y2005S|VPS13A_ENST00000357409.5_Missense_Mutation_p.Y2044S	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2044					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GATGAGAACTATCAAATGTGT	0.274																																						ENST00000360280.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(6130-6132)tAt>tCt		vacuolar protein sorting 13 homolog A (S. cerevisiae)							37.0	39.0	38.0					9																	79952206		2201	4296	6497	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79952206A>C	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.6131A>C	9.37:g.79952206A>C	ENSP00000353422:p.Tyr2044Ser					VPS13A_ENST00000376634.4_Missense_Mutation_p.Y2044S|VPS13A_ENST00000357409.5_Missense_Mutation_p.Y2044S|VPS13A_ENST00000376636.3_Missense_Mutation_p.Y2005S	p.Y2044S	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			47	6391	+			2044					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.6131A>C	CCDS6655.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.05|15.05	2.716981|2.716981	0.48622|0.48622	.|.	.|.	ENSG00000197969|ENSG00000197969	ENST00000419472|ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	.|T;T;T;T	.|0.59083	.|0.48;0.29;0.37;0.47	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	.|0.277018	.|0.31392	.|N	.|0.007725	T|T	0.75737|0.75737	0.3890|0.3890	M|M	0.77820|0.77820	2.39|2.39	0.80722|0.80722	D|D	1|1	.|D;P;D;D;D	.|0.76494	.|0.993;0.829;0.998;0.999;0.998	.|P;B;D;D;D	.|0.71414	.|0.888;0.293;0.94;0.973;0.95	T|T	0.79279|0.79279	-0.1869|-0.1869	5|10	.|0.66056	.|D	.|0.02	.|.	15.2609|15.2609	0.73621|0.73621	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|296;2005;2044;2044;2044	.|B1ALW4;Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.|.;.;VP13A_HUMAN;.;.	L|S	297|2044;2005;2044;2044	.|ENSP00000365821:Y2044S;ENSP00000365823:Y2005S;ENSP00000353422:Y2044S;ENSP00000349985:Y2044S	.|ENSP00000349985:Y2044S	I|Y	+|+	1|2	0|0	VPS13A|VPS13A	79142026|79142026	1.000000|1.000000	0.71417|0.71417	0.598000|0.598000	0.28837|0.28837	0.500000|0.500000	0.33767|0.33767	4.095000|4.095000	0.57728|0.57728	2.026000|2.026000	0.59711|0.59711	0.528000|0.528000	0.53228|0.53228	ATC|TAT		0.274	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		21	68	0	0	0	1	0	21	68				
BROX	148362	broad.mit.edu	37	1	222903001	222903001	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:222903001A>T	ENST00000340934.5	+	10	1202	c.796A>T	c.(796-798)Aaa>Taa	p.K266*	BROX_ENST00000539697.1_Nonsense_Mutation_p.K234*|BROX_ENST00000537020.1_Nonsense_Mutation_p.K266*	NM_144695.2	NP_653296.2	Q5VW32	BROX_HUMAN	BRO1 domain and CAAX motif containing	266	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						GGCTAGTGATAAATGCGGTGA	0.348																																						ENST00000340934.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						c.(796-798)Aaa>Taa		BRO1 domain and CAAX motif containing							85.0	90.0	88.0					1																	222903001		2203	4300	6503	SO:0001587	stop_gained	148362					membrane		g.chr1:222903001A>T		CCDS1534.1, CCDS73036.1, CCDS73037.1	1q41	2010-11-30	2010-11-30	2010-11-30	ENSG00000162819	ENSG00000162819			26512	protein-coding gene	gene with protein product	"""BRO1 domain containing protein"""		"""chromosome 1 open reading frame 58"""	C1orf58		18190528	Standard	XM_005273065		Approved	FLJ32421	uc001hnq.1	Q5VW32	OTTHUMG00000037650	ENST00000340934.5:c.796A>T	1.37:g.222903001A>T	ENSP00000343742:p.Lys266*					BROX_ENST00000537020.1_Nonsense_Mutation_p.K266*|BROX_ENST00000539697.1_Nonsense_Mutation_p.K234*	p.K266*	NM_144695.2	NP_653296.2	Q5VW32	BROX_HUMAN			10	1202	+			266			BRO1.		B7Z9G5|Q96MG1	Nonsense_Mutation	SNP	ENST00000340934.5	37	c.796A>T	CCDS1534.1	.	.	.	.	.	.	.	.	.	.	a	37	6.016599	0.97205	.	.	ENSG00000162819	ENST00000340934;ENST00000537020;ENST00000539697	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.3015	16.5764	0.84681	1.0:0.0:0.0:0.0	.	.	.	.	X	266;266;234	.	ENSP00000343742:K266X	K	+	1	0	BROX	220969624	1.000000	0.71417	0.981000	0.43875	0.921000	0.55340	8.546000	0.90661	2.371000	0.80710	0.533000	0.62120	AAA		0.348	BROX-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091815.2	NM_144695		22	53	0	0	0	1	0	22	53				
C4orf6	10141	broad.mit.edu	37	4	5527209	5527209	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:5527209G>C	ENST00000195455.2	+	1	327	c.152G>C	c.(151-153)aGg>aCg	p.R51T	C4orf6_ENST00000515342.1_3'UTR	NM_005750.2	NP_005741.1	Q99440	CD006_HUMAN	chromosome 4 open reading frame 6	51					nervous system development (GO:0007399)					large_intestine(1)|prostate(1)	2						cggaaatccaggagagctgac	0.428																																						ENST00000195455.2																			0				large_intestine(1)|prostate(1)	2						c.(151-153)aGg>aCg		chromosome 4 open reading frame 6							68.0	67.0	68.0					4																	5527209		2203	4300	6503	SO:0001583	missense	10141				nervous system development			g.chr4:5527209G>C	D82070	CCDS3381.1	4p16	2012-02-24			ENSG00000082929	ENSG00000082929			13716	protein-coding gene	gene with protein product						9016955	Standard	NM_005750		Approved	aC1	uc003gii.3	Q99440	OTTHUMG00000125492	ENST00000195455.2:c.152G>C	4.37:g.5527209G>C	ENSP00000195455:p.Arg51Thr					C4orf6_ENST00000515342.1_3'UTR	p.R51T	NM_005750.2	NP_005741.1	Q99440	CD006_HUMAN			1	327	+			51					Q17R65	Missense_Mutation	SNP	ENST00000195455.2	37	c.152G>C	CCDS3381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.773|2.773	-0.255175|-0.255175	0.05829|0.05829	.|.	.|.	ENSG00000082929|ENSG00000082929	ENST00000505296|ENST00000195455	.|T	.|0.56275	.|0.47	0.225|0.225	0.225|0.225	0.15325|0.15325	.|.	.|.	.|.	.|.	.|.	T|T	0.57784|0.57784	0.2077|0.2077	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|P	.|0.51449	.|0.945	.|P	.|0.54965	.|0.765	T|T	0.49303|0.49303	-0.8954|-0.8954	3|7	.|0.87932	.|D	.|0	.|.	.|.	.|.	.|.	.|.	.|51	.|Q99440	.|CD006_HUMAN	H|T	31|51	.|ENSP00000195455:R51T	.|ENSP00000195455:R51T	Q|R	+|+	3|2	2|0	C4orf6|C4orf6	5578110|5578110	0.070000|0.070000	0.21116|0.21116	0.108000|0.108000	0.21378|0.21378	0.110000|0.110000	0.19582|0.19582	0.334000|0.334000	0.19787|0.19787	0.300000|0.300000	0.22699|0.22699	0.305000|0.305000	0.20034|0.20034	CAG|AGG		0.428	C4orf6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246818.1	NM_005750		14	45	0	0	0	1	0	14	45				
KIF25	3834	broad.mit.edu	37	6	168440828	168440828	+	Missense_Mutation	SNP	C	C	T	rs199989232	byFrequency	TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:168440828C>T	ENST00000443060.2	+	7	969	c.578C>T	c.(577-579)gCg>gTg	p.A193V	KIF25_ENST00000354419.2_Missense_Mutation_p.A193V|KIF25_ENST00000351261.3_Missense_Mutation_p.A193V			Q9UIL4	KIF25_HUMAN	kinesin family member 25	193	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CTGGTGCACGCGGATTCCTCC	0.572													c|||	5	0.000998403	0.0023	0.0	5008	,	,		19339	0.0		0.0	False		,,,				2504	0.002					ENST00000443060.2																			0				NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(577-579)gCg>gTg		kinesin family member 25		T	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	84.0	73.0	77.0		578,578	2.7	0.0	6		77	0,8600		0,0,4300	no	missense,missense	KIF25	NM_005355.3,NM_030615.2	64,64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	193/333,193/385	168440828	1,13005	2203	4300	6503	SO:0001583	missense	3834				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr6:168440828C>T	AB012722	CCDS5305.1, CCDS43530.1	6q27	2008-02-05	2003-01-09	2003-01-10	ENSG00000125337	ENSG00000125337		"""Kinesins"""	6390	protein-coding gene	gene with protein product		603815	"""kinesin-like 3"""	KNSL3		9925910	Standard	NM_030615		Approved		uc003qwk.1	Q9UIL4	OTTHUMG00000016035	ENST00000443060.2:c.578C>T	6.37:g.168440828C>T	ENSP00000388878:p.Ala193Val					KIF25_ENST00000354419.2_Missense_Mutation_p.A193V|KIF25_ENST00000351261.3_Missense_Mutation_p.A193V	p.A193V			Q9UIL4	KIF25_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	7	969	+		Breast(66;1.07e-05)|Ovarian(120;0.0728)	193			Kinesin-motor.		O94775|Q5SZU9	Missense_Mutation	SNP	ENST00000443060.2	37	c.578C>T	CCDS5305.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	c	11.82	1.752096	0.31046	2.27E-4	0.0	ENSG00000125337	ENST00000443060;ENST00000354419;ENST00000351261	T;T;T	0.76060	-0.99;-0.99;-0.99	3.56	2.7	0.31948	Kinesin, motor domain (5);	0.256528	0.30879	N	0.008681	T	0.48840	0.1522	L	0.55743	1.74	0.25812	N	0.984389	B;B	0.19445	0.032;0.036	B;B	0.20384	0.029;0.009	T	0.50701	-0.8797	10	0.62326	D	0.03	-14.4088	6.9243	0.24405	0.0:0.8702:0.0:0.1298	.	193;193	Q9UIL4-2;Q9UIL4	.;KIF25_HUMAN	V	193	ENSP00000388878:A193V;ENSP00000346401:A193V;ENSP00000252688:A193V	ENSP00000252688:A193V	A	+	2	0	KIF25	168183677	0.002000	0.14202	0.009000	0.14445	0.004000	0.04260	-0.005000	0.12855	0.714000	0.32081	-0.473000	0.04963	GCG		0.572	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362509.1			35	64	0	0	0	1	0	35	64				
TRBV10-1	28585	broad.mit.edu	37	7	142231637	142231637	+	RNA	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:142231637G>A	ENST00000390364.3	-	0	347									T cell receptor beta variable 10-1(gene/pseudogene)																		AGAGTGAGGGGGAGGTCCTCT	0.517																																						ENST00000390364.3																			0																				111.0	117.0	115.0					7																	142231637		2044	4217	6261			28585							g.chr7:142231637G>A	U17050		7q34	2012-02-07	2008-09-12		ENSG00000211717	ENSG00000211717		"""T cell receptors / TRB locus"""	12177	other	T cell receptor gene			"""T cell receptor beta variable 10-1"""			8650574	Standard	NG_001333		Approved	TRBV101, TCRBV10S1, TCRBV12S2A1T, TCRBV12S2			OTTHUMG00000158514		7.37:g.142231637G>A														0	347	-									RNA	SNP	ENST00000390364.3	37																																																																																						0.517	TRBV10-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351220.2	NG_001333		42	140	0	0	0	1	0	42	140				
TTC39B	158219	broad.mit.edu	37	9	15214244	15214244	+	Silent	SNP	T	T	C	rs138159733		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:15214244T>C	ENST00000512701.2	-	4	411	c.375A>G	c.(373-375)tcA>tcG	p.S125S	TTC39B_ENST00000541445.1_Silent_p.S59S|TTC39B_ENST00000355694.2_Silent_p.S59S|TTC39B_ENST00000507993.1_5'UTR|TTC39B_ENST00000582994.1_5'UTR|TTC39B_ENST00000297615.5_Intron|TTC39B_ENST00000507285.1_5'UTR|TTC39B_ENST00000380850.4_Silent_p.S125S			Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	125										NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						TGGTTGATGATGAACTAAAGA	0.418																																						ENST00000355694.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						c.(175-177)tcA>tcG		tetratricopeptide repeat domain 39B		T	,,,,	0,4406		0,0,2203	93.0	89.0	90.0		375,375,,,375	1.0	0.0	9	dbSNP_134	90	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,intron,utr-5,coding-synonymous	TTC39B	NM_001168339.1,NM_001168340.1,NM_001168341.1,NM_001168342.1,NM_152574.2	,,,,	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	,,,,	125/681,125/670,,,125/683	15214244	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	158219						binding	g.chr9:15214244T>C	AK091187	CCDS6477.1, CCDS6477.2, CCDS55294.1, CCDS55295.1, CCDS55296.1	9p22.2	2013-01-11	2008-06-23	2008-06-23	ENSG00000155158	ENSG00000155158		"""Tetratricopeptide (TTC) repeat domain containing"""	23704	protein-coding gene	gene with protein product		613574	"""chromosome 9 open reading frame 52"""	C9orf52			Standard	NM_001168339		Approved	FLJ33868	uc003zlr.2	Q5VTQ0	OTTHUMG00000019581	ENST00000512701.2:c.375A>G	9.37:g.15214244T>C						TTC39B_ENST00000507285.1_5'UTR|TTC39B_ENST00000507993.1_5'UTR|TTC39B_ENST00000582994.1_5'UTR|TTC39B_ENST00000512701.1_Silent_p.S125S|TTC39B_ENST00000380850.4_Silent_p.S125S|TTC39B_ENST00000541445.1_Silent_p.S59S|TTC39B_ENST00000297615.5_Intron	p.S59S	NM_001168339.1|NM_152574.2	NP_001161811.1|NP_689787.2	Q5VTQ0	TT39B_HUMAN			4	411	-			59					A5PLN1|B4DQ10|B4DQX4|B4DW93|Q8IVR7|Q8IXZ6|Q8N267	Silent	SNP	ENST00000512701.2	37	c.177A>G	CCDS6477.2																																																																																				0.418	TTC39B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051758.3	NM_152574		22	45	0	0	0	1	0	22	45				
SORL1	6653	broad.mit.edu	37	11	121483539	121483539	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:121483539A>G	ENST00000260197.7	+	40	5546	c.5417A>G	c.(5416-5418)aAa>aGa	p.K1806R	SORL1_ENST00000532694.1_Missense_Mutation_p.K652R|SORL1_ENST00000527934.1_Missense_Mutation_p.K421R|SORL1_ENST00000534286.1_Missense_Mutation_p.K716R|SORL1_ENST00000525532.1_Missense_Mutation_p.K750R	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1806	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTGTCACACAAAGGTAACACT	0.527																																						ENST00000260197.7																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91						c.(5416-5418)aAa>aGa		sortilin-related receptor, L(DLR class) A repeats containing							102.0	78.0	86.0					11																	121483539		2202	4299	6501	SO:0001583	missense	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121483539A>G	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.5417A>G	11.37:g.121483539A>G	ENSP00000260197:p.Lys1806Arg					SORL1_ENST00000532694.1_Missense_Mutation_p.K652R|SORL1_ENST00000525532.1_Missense_Mutation_p.K750R|SORL1_ENST00000527934.1_Missense_Mutation_p.K421R|SORL1_ENST00000534286.1_Missense_Mutation_p.K716R	p.K1806R	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	40	5546	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	1806			Fibronectin type-III 3.		B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	c.5417A>G	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	A	11.44	1.639873	0.29157	.	.	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286;ENST00000527934	T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6	5.46	3.08	0.35506	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.243450	0.39909	N	0.001223	T	0.36386	0.0965	L	0.34521	1.04	0.37425	D	0.913805	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.18147	-1.0346	10	0.32370	T	0.25	.	6.4389	0.21839	0.7246:0.1321:0.1433:0.0	.	421;1806	E9PKB0;Q92673	.;SORL_HUMAN	R	1806;750;652;716;421	ENSP00000260197:K1806R;ENSP00000434634:K750R;ENSP00000432131:K652R;ENSP00000436447:K716R;ENSP00000435405:K421R	ENSP00000260197:K1806R	K	+	2	0	SORL1	120988749	1.000000	0.71417	0.997000	0.53966	0.735000	0.41995	0.848000	0.27710	0.429000	0.26202	0.533000	0.62120	AAA		0.527	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		5	17	0	0	0	1	0	5	17				
EPB41L4B	54566	broad.mit.edu	37	9	111979251	111979251	+	Silent	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:111979251G>A	ENST00000374566.3	-	16	2101	c.1584C>T	c.(1582-1584)aaC>aaT	p.N528N		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	528					actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCCCCTCTTTGTTCTCCAGGG	0.587																																						ENST00000374566.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1582-1584)aaC>aaT		erythrocyte membrane protein band 4.1 like 4B							123.0	125.0	124.0					9																	111979251		2085	4214	6299	SO:0001819	synonymous_variant	54566					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	g.chr9:111979251G>A	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.1584C>T	9.37:g.111979251G>A							p.N528N	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN			16	2101	-			528					Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Silent	SNP	ENST00000374566.3	37	c.1584C>T	CCDS43859.1																																																																																				0.587	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424		59	184	0	0	0	1	0	59	184				
COL4A5	1287	broad.mit.edu	37	X	107923960	107923960	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chrX:107923960C>T	ENST00000361603.2	+	43	4220	c.3976C>T	c.(3976-3978)Cct>Tct	p.P1326S	COL4A5_ENST00000328300.6_Missense_Mutation_p.P1332S	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1326	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TCCTGGTCTCCCTGGTGTTCC	0.433									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000328300.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.(3994-3996)Cct>Tct		collagen, type IV, alpha 5							84.0	80.0	81.0					X																	107923960		2203	4300	6503	SO:0001583	missense	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107923960C>T	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.3976C>T	X.37:g.107923960C>T	ENSP00000354505:p.Pro1326Ser					COL4A5_ENST00000361603.2_Missense_Mutation_p.P1326S	p.P1332S	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN			45	4238	+			1326			Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.3994C>T	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.643196	0.67244	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.96587	-4.06;-4.06	5.32	5.32	0.75619	.	0.059859	0.64402	D	0.000002	D	0.97551	0.9198	M	0.85299	2.745	0.58432	D	0.999999	D;D	0.58620	0.983;0.964	P;P	0.55713	0.782;0.476	D	0.97115	0.9807	10	0.24483	T	0.36	.	18.1049	0.89517	0.0:1.0:0.0:0.0	.	1329;1326	E7EVY4;P29400	.;CO4A5_HUMAN	S	1332;1326;1332	ENSP00000331902:P1332S;ENSP00000354505:P1326S	ENSP00000331902:P1332S	P	+	1	0	COL4A5	107810616	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.168000	0.77570	2.212000	0.71576	0.523000	0.50628	CCT		0.433	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			29	37	0	0	0	1	0	29	37				
KPNA2	3838	broad.mit.edu	37	17	66040031	66040031	+	Silent	SNP	A	A	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:66040031A>G	ENST00000537025.2	+	8	1628	c.1008A>G	c.(1006-1008)gcA>gcG	p.A336A	KPNA2_ENST00000330459.3_Silent_p.A336A			P52292	IMA1_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	336	NLS binding site (minor). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|DNA metabolic process (GO:0006259)|NLS-bearing protein import into nucleus (GO:0006607)|regulation of DNA recombination (GO:0000018)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATGCAGGAGCACTCGCCGTCT	0.478																																						ENST00000537025.2																			0				breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22						c.(1006-1008)gcA>gcG		karyopherin alpha 2 (RAG cohort 1, importin alpha 1)							94.0	105.0	101.0					17																	66040031		2203	4292	6495	SO:0001819	synonymous_variant	3838				DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity	g.chr17:66040031A>G	U09559	CCDS32713.1	17q24.2	2013-02-14						"""Importins"", ""Armadillo repeat containing"""	6395	protein-coding gene	gene with protein product		600685		RCH1		8016130, 7754385	Standard	NM_002266		Approved	SRP1alpha, IPOA1, QIP2	uc002jgk.3	P52292		ENST00000537025.2:c.1008A>G	17.37:g.66040031A>G						KPNA2_ENST00000330459.3_Silent_p.A336A	p.A336A			P52292	IMA2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)		8	1628	+	all_cancers(12;1.18e-09)		336			NLS binding site (minor) (By similarity).		B9EJD6|Q53YE3|Q9BRU5	Silent	SNP	ENST00000537025.2	37	c.1008A>G	CCDS32713.1																																																																																				0.478	KPNA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448111.1	NM_002266		41	179	0	0	0	1	0	41	179				
ZSWIM2	151112	broad.mit.edu	37	2	187703739	187703739	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:187703739G>T	ENST00000295131.2	-	4	480	c.441C>A	c.(439-441)tgC>tgA	p.C147*		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	147					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			GACAAATAGAGCAGATATCCT	0.338																																						ENST00000295131.2																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52						c.(439-441)tgC>tgA		zinc finger, SWIM-type containing 2							206.0	207.0	207.0					2																	187703739		2203	4300	6503	SO:0001587	stop_gained	151112				apoptosis		zinc ion binding	g.chr2:187703739G>T	AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"""Zinc fingers, SWIM-type"", ""Zinc fingers, ZZ-type"""	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.441C>A	2.37:g.187703739G>T	ENSP00000295131:p.Cys147*						p.C147*	NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)		4	480	-			147					B3KXV6|Q53SI3|Q57ZY3	Nonsense_Mutation	SNP	ENST00000295131.2	37	c.441C>A	CCDS33348.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743439	0.89663	.	.	ENSG00000163012	ENST00000295131	.	.	.	5.39	1.45	0.22620	.	0.000000	0.53938	D	0.000044	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.8916	8.8389	0.35129	0.3191:0.0:0.6809:0.0	.	.	.	.	X	147	.	ENSP00000295131:C147X	C	-	3	2	ZSWIM2	187411984	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	1.332000	0.33805	0.229000	0.21039	0.557000	0.71058	TGC		0.338	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		22	385	1	0	6.33239e-15	1	8.53159e-15	22	385				
CAMTA1	23261	broad.mit.edu	37	1	7725032	7725032	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:7725032G>A	ENST00000303635.7	+	9	2632	c.2425G>A	c.(2425-2427)Ggg>Agg	p.G809R	CAMTA1_ENST00000439411.2_Missense_Mutation_p.G809R	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	809					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)		GTCAGAGGACGGGGCGCGGGC	0.682			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		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.(2425-2427)Ggg>Agg		calmodulin binding transcription activator 1							79.0	96.0	90.0					1																	7725032		2203	4298	6501	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7725032G>A	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.2425G>A	1.37:g.7725032G>A	ENSP00000306522:p.Gly809Arg					CAMTA1_ENST00000439411.2_Missense_Mutation_p.G809R	p.G809R	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)	9	2632	+	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)	809					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.2425G>A	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	g	9.982	1.228497	0.22542	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.21734	1.99;1.99	5.23	5.23	0.72850	.	0.059406	0.64402	D	0.000002	T	0.24044	0.0582	L	0.40543	1.245	0.35037	D	0.759315	D	0.63046	0.992	P	0.51582	0.674	T	0.17592	-1.0364	10	0.29301	T	0.29	-18.638	10.0538	0.42233	0.1251:0.0:0.8749:0.0	.	809	Q9Y6Y1	CMTA1_HUMAN	R	809	ENSP00000306522:G809R;ENSP00000402561:G809R	ENSP00000306522:G809R	G	+	1	0	CAMTA1	7647619	1.000000	0.71417	0.997000	0.53966	0.302000	0.27658	3.532000	0.53553	2.453000	0.82957	0.549000	0.68633	GGG		0.682	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		66	199	0	0	0	1	0	66	199				
NAV3	89795	broad.mit.edu	37	12	78582509	78582509	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:78582509T>A	ENST00000397909.2	+	33	6180	c.6007T>A	c.(6007-6009)Tgt>Agt	p.C2003S	NAV3_ENST00000228327.6_Missense_Mutation_p.C1981S|NAV3_ENST00000266692.7_Missense_Mutation_p.C1804S|NAV3_ENST00000536525.2_Missense_Mutation_p.C1981S|NAV3_ENST00000552300.1_Intron			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2003						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ATTGCTGCCTTGTGGATACCT	0.383										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(6007-6009)Tgt>Agt		neuron navigator 3							116.0	111.0	112.0					12																	78582509		1907	4115	6022	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78582509T>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.6007T>A	12.37:g.78582509T>A	ENSP00000381007:p.Cys2003Ser	HNSCC(70;0.22)				NAV3_ENST00000536525.2_Missense_Mutation_p.C1981S|NAV3_ENST00000266692.7_Missense_Mutation_p.C1804S|NAV3_ENST00000552300.1_Intron|NAV3_ENST00000228327.6_Missense_Mutation_p.C1981S	p.C2003S			Q8IVL0	NAV3_HUMAN			33	6180	+			2003					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.6007T>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.6|24.6	4.554545|4.554545	0.86231|0.86231	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788|ENST00000552895	T;T;T;T;T|.	0.29142|.	1.64;1.63;1.63;1.58;2.47|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.000000|.	0.44097|.	U|.	0.000485|.	T|.	0.72447|.	0.3461|.	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	P;D;P;D|.	0.89917|.	0.768;0.989;0.714;1.0|.	B;D;B;D|.	0.83275|.	0.376;0.985;0.178;0.996|.	T|.	0.70930|.	-0.4738|.	10|.	0.45353|.	T|.	0.12|.	-3.5179|-3.5179	16.4288|16.4288	0.83833|0.83833	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1981;1804;2003;1981|.	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2|.	.;.;NAV3_HUMAN;.|.	S|X	1981;2003;1981;1804;595;603|875	ENSP00000446132:C1981S;ENSP00000381007:C2003S;ENSP00000228327:C1981S;ENSP00000266692:C1804S;ENSP00000448303:C603S|.	ENSP00000228327:C1981S|.	C|L	+|+	1|2	0|0	NAV3|NAV3	77106640|77106640	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.975000|7.975000	0.88055|0.88055	2.282000|2.282000	0.76494|0.76494	0.533000|0.533000	0.62120|0.62120	TGT|TTG		0.383	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		19	102	0	0	0	1	0	19	102				
HERC6	55008	broad.mit.edu	37	4	89345806	89345806	+	Silent	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:89345806G>T	ENST00000264346.7	+	15	1946	c.1887G>T	c.(1885-1887)tcG>tcT	p.S629S	HERC6_ENST00000380265.5_Intron	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	629					hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		TCTTTAATTCGCTATCCAAAA	0.264																																						ENST00000264346.7																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11						c.(1885-1887)tcG>tcT		HECT and RLD domain containing E3 ubiquitin protein ligase family member 6							60.0	56.0	57.0					4																	89345806		1782	4058	5840	SO:0001819	synonymous_variant	55008				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity	g.chr4:89345806G>T	AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"""hect domain and RLD 6"""				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.1887G>T	4.37:g.89345806G>T						HERC6_ENST00000380265.5_Intron	p.S629S	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000222)	15	1946	+		Hepatocellular(203;0.114)	629					B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Silent	SNP	ENST00000264346.7	37	c.1887G>T	CCDS47098.1																																																																																				0.264	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2			14	62	1	0	0.000308642	1	0.000326399	14	62				
CTTNBP2	83992	broad.mit.edu	37	7	117450912	117450912	+	Silent	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:117450912G>C	ENST00000160373.3	-	3	412	c.321C>G	c.(319-321)ccC>ccG	p.P107P		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	107					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)		GGATGGAGAGGGGGTTGGTAC	0.493																																						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.(319-321)ccC>ccG		cortactin binding protein 2							183.0	172.0	176.0					7																	117450912		2203	4300	6503	SO:0001819	synonymous_variant	83992							g.chr7:117450912G>C		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.321C>G	7.37:g.117450912G>C							p.P107P	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	3	412	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		107					O43389|Q7LG11|Q9C0A5	Silent	SNP	ENST00000160373.3	37	c.321C>G	CCDS5774.1																																																																																				0.493	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		58	200	0	0	0	1	0	58	200				
ITGB1BP2	26548	broad.mit.edu	37	X	70523727	70523727	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chrX:70523727G>T	ENST00000373829.3	+	8	678	c.605G>T	c.(604-606)gGg>gTg	p.G202V	ITGB1BP2_ENST00000465388.1_3'UTR|ITGB1BP2_ENST00000538820.1_Missense_Mutation_p.G184V	NM_012278.1	NP_036410.1	Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein (melusin) 2	202	CHORD 2. {ECO:0000255|PROSITE- ProRule:PRU00734}.|Cys-rich.				muscle organ development (GO:0007517)|signal transduction (GO:0007165)	Z disc (GO:0030018)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					GCACAACCAGGGTGCAGAGTC	0.488																																						ENST00000538820.1																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14						c.(550-552)gGg>gTg		integrin beta 1 binding protein (melusin) 2							47.0	43.0	44.0					X																	70523727		2203	4300	6503	SO:0001583	missense	26548				muscle organ development|signal transduction		SH3 domain binding	g.chrX:70523727G>T	AF140690	CCDS14411.1	Xq12.1-q13	2008-02-05			ENSG00000147166	ENSG00000147166			6154	protein-coding gene	gene with protein product		300332				10506186	Standard	XM_005262255		Approved	CHORDC3	uc004dzr.1	Q9UKP3	OTTHUMG00000021793	ENST00000373829.3:c.605G>T	X.37:g.70523727G>T	ENSP00000362935:p.Gly202Val					ITGB1BP2_ENST00000373829.3_Missense_Mutation_p.G202V|ITGB1BP2_ENST00000465388.1_3'UTR	p.G184V			Q9UKP3	ITBP2_HUMAN			7	891	+	Renal(35;0.156)		202			CHORD 2.|Cys-rich.		Q32N04|Q549J7	Missense_Mutation	SNP	ENST00000373829.3	37	c.551G>T	CCDS14411.1	.	.	.	.	.	.	.	.	.	.	g	17.21	3.332090	0.60853	.	.	ENSG00000147166	ENST00000373829;ENST00000538820	.	.	.	5.17	5.17	0.71159	Cysteine/histidine-rich domain (2);	0.000000	0.85682	D	0.000000	D	0.85750	0.5769	H	0.94847	3.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.89134	0.3512	9	0.87932	D	0	-8.4646	12.6035	0.56511	0.0:0.0:1.0:0.0	.	184;202	Q32N04;Q9UKP3	.;ITBP2_HUMAN	V	202;184	.	ENSP00000362935:G202V	G	+	2	0	ITGB1BP2	70440452	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.660000	0.74417	2.370000	0.80446	0.600000	0.82982	GGG		0.488	ITGB1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057126.1	NM_012278		7	11	1	0	0.000157383	1	0.00016875	7	11				
PAG1	55824	broad.mit.edu	37	8	81897092	81897092	+	Silent	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:81897092C>A	ENST00000220597.4	-	7	1505	c.795G>T	c.(793-795)ctG>ctT	p.L265L		NM_018440.3	NP_060910.3	Q9NWQ8	PHAG1_HUMAN	phosphoprotein membrane anchor with glycosphingolipid microdomains 1	265					epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)|positive regulation of signal transduction (GO:0009967)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			CATTCTCGTCCAGAAGCTTAA	0.483																																						ENST00000220597.4																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11						c.(793-795)ctG>ctT		phosphoprotein associated with glycosphingolipid microdomains 1							130.0	124.0	126.0					8																	81897092		2203	4300	6503	SO:0001819	synonymous_variant	55824				epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity	g.chr8:81897092C>A	AF240634	CCDS6227.1	8q21.13	2014-04-30	2014-04-30						30043	protein-coding gene	gene with protein product	"""Csk-binding protein"", ""transmembrane adaptor protein PAG"""	605767	"""phosphoprotein associated with glycosphingolipid microdomains 1"""			10790433	Standard	XM_006716461		Approved	PAG, CBP	uc003ybz.3	Q9NWQ8		ENST00000220597.4:c.795G>T	8.37:g.81897092C>A							p.L265L	NM_018440.3	NP_060910.3	Q9NWQ8	PAG1_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)		7	1505	-	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		265					A8K1A3|Q2M1Z9|Q5BKU4|Q9NYK0	Silent	SNP	ENST00000220597.4	37	c.795G>T	CCDS6227.1																																																																																				0.483	PAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379352.3	NM_018440		49	130	1	0	1.81118e-26	1	2.74163e-26	49	130				
DOCK11	139818	broad.mit.edu	37	X	117727280	117727280	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chrX:117727280A>C	ENST00000276202.7	+	20	2306	c.2243A>C	c.(2242-2244)cAa>cCa	p.Q748P	DOCK11_ENST00000276204.6_Missense_Mutation_p.Q748P	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	748	DHR-1.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						ACCAAAAAGCAAGACACAGTT	0.358																																						ENST00000276204.6																			0				breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						c.(2242-2244)cAa>cCa		dedicator of cytokinesis 11							92.0	81.0	84.0					X																	117727280		2203	4300	6503	SO:0001583	missense	139818				blood coagulation	cytosol	GTP binding	g.chrX:117727280A>C	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.2243A>C	X.37:g.117727280A>C	ENSP00000276202:p.Gln748Pro					DOCK11_ENST00000276202.7_Missense_Mutation_p.Q748P	p.Q748P			Q5JSL3	DOC11_HUMAN			20	2317	+			748			DHR-1.		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	c.2243A>C	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	A	14.78	2.638930	0.47153	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.13901	2.55;2.55	5.46	5.46	0.80206	.	0.315914	0.34879	N	0.003609	T	0.13628	0.0330	N	0.11201	0.11	0.38773	D	0.954595	P;P	0.48230	0.907;0.907	P;P	0.51266	0.664;0.565	T	0.16630	-1.0396	10	0.59425	D	0.04	-6.2906	13.8295	0.63370	1.0:0.0:0.0:0.0	.	748;748	A6NIW2;Q5JSL3	.;DOC11_HUMAN	P	748	ENSP00000276204:Q748P;ENSP00000276202:Q748P	ENSP00000276202:Q748P	Q	+	2	0	DOCK11	117611308	1.000000	0.71417	0.999000	0.59377	0.541000	0.35023	3.721000	0.54941	1.931000	0.55961	0.417000	0.27973	CAA		0.358	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		25	30	0	0	0	1	0	25	30				
ANKRD42	338699	broad.mit.edu	37	11	82951886	82951886	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:82951886G>A	ENST00000393392.2	+	9	1183	c.1021G>A	c.(1021-1023)Gtg>Atg	p.V341M	ANKRD42_ENST00000533342.1_Missense_Mutation_p.V369M|ANKRD42_ENST00000531895.1_Missense_Mutation_p.V369M|ANKRD42_ENST00000260047.6_Missense_Mutation_p.V368M	NM_182603.2	NP_872409.2	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	341					positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						TGAAAATGATGTGAAATATTT	0.373																																						ENST00000260047.6																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						c.(1102-1104)Gtg>Atg		ankyrin repeat domain 42							157.0	157.0	157.0					11																	82951886		2203	4300	6503	SO:0001583	missense	338699							g.chr11:82951886G>A	AK095193	CCDS8265.1, CCDS73355.1, CCDS73356.1	11q14.1	2014-06-12			ENSG00000137494	ENSG00000137494		"""Ankyrin repeat domain containing"""	26752	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 79"""						Standard	XM_005273971		Approved	FLJ37874, SARP, PPP1R79	uc001ozz.1	Q8N9B4	OTTHUMG00000167075	ENST00000393392.2:c.1021G>A	11.37:g.82951886G>A	ENSP00000377051:p.Val341Met					ANKRD42_ENST00000533342.1_Missense_Mutation_p.V369M|ANKRD42_ENST00000531895.1_Missense_Mutation_p.V369M|ANKRD42_ENST00000393392.2_Missense_Mutation_p.V341M	p.V368M			Q8N9B4	ANR42_HUMAN			9	1897	+			341					Q49A49	Missense_Mutation	SNP	ENST00000393392.2	37	c.1102G>A	CCDS8265.1	.	.	.	.	.	.	.	.	.	.	G	2.954	-0.216146	0.06101	.	.	ENSG00000137494	ENST00000260047;ENST00000531895;ENST00000393392;ENST00000533342;ENST00000342658	T;T;T;T	0.69175	-0.38;-0.27;-0.29;-0.31	5.31	-1.74	0.08056	.	0.974614	0.08450	N	0.944072	T	0.39145	0.1067	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.11235	0.003;0.004;0.001;0.003	B;B;B;B	0.09377	0.004;0.002;0.002;0.002	T	0.15752	-1.0426	9	.	.	.	0.3321	0.2791	0.00242	0.3026:0.2284:0.2449:0.2241	.	369;633;460;341	E9PIL2;A1DRY3;A1XPJ0;Q8N9B4	.;.;.;ANR42_HUMAN	M	368;369;341;369;109	ENSP00000260047:V368M;ENSP00000434666:V369M;ENSP00000377051:V341M;ENSP00000435790:V369M	.	V	+	1	0	ANKRD42	82629534	0.000000	0.05858	0.004000	0.12327	0.609000	0.37215	-0.285000	0.08410	-0.212000	0.10109	-0.312000	0.09012	GTG		0.373	ANKRD42-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000392934.1	NM_182603		36	102	0	0	0	1	0	36	102				
FEZF1	389549	broad.mit.edu	37	7	121943707	121943707	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:121943707C>A	ENST00000442488.2	-	1	852	c.785G>T	c.(784-786)tGc>tTc	p.C262F	FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000427185.2_Missense_Mutation_p.C212F|FEZF1-AS1_ENST00000437317.1_RNA|FEZF1_ENST00000331178.4_Missense_Mutation_p.C262F	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	262					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						ACACACTTCGCAAGTGAAAAC	0.512																																						ENST00000442488.2																			0				breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						c.(784-786)tGc>tTc		FEZ family zinc finger 1							122.0	133.0	129.0					7																	121943707		2203	4300	6503	SO:0001583	missense	389549				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:121943707C>A	AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"""Zinc fingers, C2H2-type"""	22788	protein-coding gene	gene with protein product		613301	"""zinc finger protein 312B"""	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.785G>T	7.37:g.121943707C>A	ENSP00000411145:p.Cys262Phe					FEZF1_ENST00000331178.4_Missense_Mutation_p.C262F|FEZF1_ENST00000427185.2_Missense_Mutation_p.C212F	p.C262F	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN			1	852	-			262					A0PJY3|A4D0W3|B4DUP9|B7ZM98	Missense_Mutation	SNP	ENST00000442488.2	37	c.785G>T	CCDS34741.2	.	.	.	.	.	.	.	.	.	.	c	16.85	3.235898	0.58886	.	.	ENSG00000128610	ENST00000442488;ENST00000331178;ENST00000427185	T;T;T	0.59083	0.29;2.81;0.29	4.8	4.8	0.61643	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.086903	0.85682	D	0.000000	T	0.70692	0.3253	L	0.42245	1.32	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.83275	0.991;0.996	T	0.73490	-0.3966	10	0.87932	D	0	-7.2241	18.4931	0.90854	0.0:1.0:0.0:0.0	.	262;212	A0PJY2;A0PJY2-2	FEZF1_HUMAN;.	F	262;262;212	ENSP00000411145:C262F;ENSP00000332777:C262F;ENSP00000392727:C212F	ENSP00000332777:C262F	C	-	2	0	FEZF1	121730943	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.232000	0.78116	2.674000	0.91012	0.544000	0.68410	TGC		0.512	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	NM_001024613		31	116	1	0	2.70662e-09	1	3.28539e-09	31	116				
DDHD2	23259	broad.mit.edu	37	8	38103811	38103811	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:38103811G>T	ENST00000397166.2	+	9	1643	c.1118G>T	c.(1117-1119)aGt>aTt	p.S373I	DDHD2_ENST00000528888.1_3'UTR|DDHD2_ENST00000520272.2_Missense_Mutation_p.S373I|DDHD2_ENST00000517385.1_5'Flank	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	373					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)			GATATTGACAGTGAAAAGGTA	0.294																																						ENST00000397166.2																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28						c.(1117-1119)aGt>aTt		DDHD domain containing 2							98.0	105.0	103.0					8																	38103811		2202	4299	6501	SO:0001583	missense	23259				lipid catabolic process	centrosome	hydrolase activity|metal ion binding	g.chr8:38103811G>T	AK056525	CCDS34883.1	8p11.23	2014-03-03	2004-04-05	2004-04-07				"""Sterile alpha motif (SAM) domain containing"""	29106	protein-coding gene	gene with protein product		615003	"""SAM, WWE and DDHD domain containing 1"""	SAMWD1		9872452, 11788596, 19632984, 20932832	Standard	NM_015214		Approved	KIAA0725, SPG54	uc003xlc.3	O94830		ENST00000397166.2:c.1118G>T	8.37:g.38103811G>T	ENSP00000380352:p.Ser373Ile					DDHD2_ENST00000520272.2_Missense_Mutation_p.S373I|DDHD2_ENST00000528888.1_3'UTR	p.S373I	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)		9	1643	+	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	373					B3KWV2|B3KXB5|Q9H8X7	Missense_Mutation	SNP	ENST00000397166.2	37	c.1118G>T	CCDS34883.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.78|12.78	2.040854|2.040854	0.35989|0.35989	.|.	.|.	ENSG00000085788|ENSG00000085788	ENST00000397166;ENST00000520272;ENST00000440212|ENST00000532106	T;T|.	0.31769|.	1.48;1.48|.	5.44|5.44	2.61|2.61	0.31194|0.31194	.|.	0.493225|.	0.24379|.	N|.	0.039040|.	T|T	0.56292|0.56292	0.1975|0.1975	L|L	0.53249|0.53249	1.67|1.67	0.80722|0.80722	D|D	1|1	B;B|.	0.17268|.	0.021;0.002|.	B;B|.	0.11329|.	0.006;0.004|.	T|T	0.47824|0.47824	-0.9087|-0.9087	10|5	0.19590|.	T|.	0.45|.	-9.7623|-9.7623	6.8176|6.8176	0.23839|0.23839	0.1559:0.1439:0.7001:0.0|0.1559:0.1439:0.7001:0.0	.|.	185;373|.	B4DSR3;O94830|.	.;DDHD2_HUMAN|.	I|L	373;373;185|166	ENSP00000380352:S373I;ENSP00000429932:S373I|.	ENSP00000380352:S373I|.	S|V	+|+	2|1	0|0	DDHD2|DDHD2	38222968|38222968	0.995000|0.995000	0.38212|0.38212	0.998000|0.998000	0.56505|0.56505	0.992000|0.992000	0.81027|0.81027	1.407000|1.407000	0.34657|0.34657	0.337000|0.337000	0.23665|0.23665	0.585000|0.585000	0.79938|0.79938	AGT|GTG		0.294	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377251.2	XM_291291		24	95	1	0	1.96895e-08	1	2.34935e-08	24	95				
DPYD	1806	broad.mit.edu	37	1	97771826	97771826	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:97771826G>C	ENST00000370192.3	-	17	2186	c.2086C>G	c.(2086-2088)Cgc>Ggc	p.R696G	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	696					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	CTAACCCAGCGGCAGATGTTC	0.428																																						ENST00000370192.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83						c.(2086-2088)Cgc>Ggc		dihydropyrimidine dehydrogenase	Capecitabine(DB01101)|Enfuvirtide(DB00109)						140.0	139.0	140.0					1																	97771826		2203	4300	6503	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:97771826G>C	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2086C>G	1.37:g.97771826G>C	ENSP00000359211:p.Arg696Gly					DPYD-AS1_ENST00000422980.1_RNA	p.R696G	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	17	2186	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	696					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.2086C>G	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.926689	0.73327	.	.	ENSG00000188641	ENST00000370192	T	0.75367	-0.93	6.08	6.08	0.98989	Aldolase-type TIM barrel (1);	0.127095	0.56097	D	0.000025	T	0.79569	0.4468	M	0.62266	1.93	0.80722	D	1	D	0.53619	0.961	P	0.54270	0.747	T	0.79940	-0.1591	10	0.72032	D	0.01	-12.1698	20.6721	0.99693	0.0:0.0:1.0:0.0	.	696	Q12882	DPYD_HUMAN	G	696	ENSP00000359211:R696G	ENSP00000359211:R696G	R	-	1	0	DPYD	97544414	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.607000	0.82883	2.894000	0.99253	0.591000	0.81541	CGC		0.428	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		70	199	0	0	0	1	0	70	199				
SLC8A1	6546	broad.mit.edu	37	2	40657172	40657172	+	Silent	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:40657172C>G	ENST00000403092.1	-	2	282	c.249G>C	c.(247-249)gtG>gtC	p.V83V	SLC8A1_ENST00000542756.1_Silent_p.V83V|SLC8A1_ENST00000332839.4_Silent_p.V83V|SLC8A1_ENST00000405269.1_Silent_p.V83V|SLC8A1_ENST00000406785.2_Silent_p.V83V|SLC8A1_ENST00000406391.2_Silent_p.V83V|SLC8A1_ENST00000408028.2_Silent_p.V83V|SLC8A1_ENST00000405901.3_Silent_p.V83V|SLC8A1_ENST00000402441.1_Silent_p.V83V|SLC8A1_ENST00000542024.1_Silent_p.V83V			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	83					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AGACCATGGCCACAAAATACA	0.403																																						ENST00000406785.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(247-249)gtG>gtC		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						100.0	101.0	100.0					2																	40657172		2203	4300	6503	SO:0001819	synonymous_variant	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40657172C>G		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.249G>C	2.37:g.40657172C>G						SLC8A1_ENST00000542756.1_Silent_p.V83V|SLC8A1_ENST00000542024.1_Silent_p.V83V|SLC8A1_ENST00000408028.2_Silent_p.V83V|SLC8A1_ENST00000332839.4_Silent_p.V83V|SLC8A1_ENST00000406391.2_Silent_p.V83V|SLC8A1_ENST00000405901.3_Silent_p.V83V|SLC8A1_ENST00000405269.1_Silent_p.V83V|SLC8A1_ENST00000403092.1_Silent_p.V83V|SLC8A1_ENST00000402441.1_Silent_p.V83V	p.V83V			P32418	NAC1_HUMAN			2	438	-			83					A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Silent	SNP	ENST00000403092.1	37	c.249G>C	CCDS1806.1																																																																																				0.403	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		45	138	0	0	0	1	0	45	138				
CMA1	1215	broad.mit.edu	37	14	24975365	24975365	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr14:24975365G>T	ENST00000250378.3	-	4	498	c.469C>A	c.(469-471)Ccg>Acg	p.P157T	CMA1_ENST00000206446.4_Missense_Mutation_p.P46T|RP11-80A15.1_ENST00000555109.1_Intron	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	157	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|cellular response to glucose stimulus (GO:0071333)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|interleukin-1 beta biosynthetic process (GO:0050720)|midbrain development (GO:0030901)|peptide metabolic process (GO:0006518)|positive regulation of angiogenesis (GO:0045766)|regulation of inflammatory response (GO:0050727)	extracellular region (GO:0005576)|intracellular (GO:0005622)	peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		TCTGAGCCCGGCTTCAACACA	0.577																																						ENST00000250378.3																			0				kidney(1)|lung(8)|pancreas(1)|prostate(1)	11						c.(469-471)Ccg>Acg		chymase 1, mast cell							61.0	54.0	57.0					14																	24975365		2203	4300	6503	SO:0001583	missense	1215				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr14:24975365G>T		CCDS9630.1	14q12	2012-08-30			ENSG00000092009	ENSG00000092009	3.4.21.39		2097	protein-coding gene	gene with protein product		118938				8468056	Standard	NM_001836		Approved		uc001wpp.1	P23946	OTTHUMG00000140181	ENST00000250378.3:c.469C>A	14.37:g.24975365G>T	ENSP00000250378:p.Pro157Thr					RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_Missense_Mutation_p.P46T	p.P157T	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0271)	4	498	-			157			Peptidase S1.		B5BUM8|Q16018|Q3SY36|Q3SY37|Q9UDH5	Missense_Mutation	SNP	ENST00000250378.3	37	c.469C>A	CCDS9630.1	.	.	.	.	.	.	.	.	.	.	G	6.566	0.472825	0.12461	.	.	ENSG00000092009	ENST00000250378;ENST00000206446	T;T	0.59364	0.27;0.27	5.37	-0.458	0.12182	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.769745	0.11804	N	0.527823	T	0.37237	0.0996	N	0.04116	-0.275	0.09310	N	1	P	0.34892	0.474	P	0.44946	0.465	T	0.41070	-0.9529	10	0.18276	T	0.48	.	7.18	0.25768	0.1925:0.0:0.6766:0.1309	.	157	P23946	CMA1_HUMAN	T	157;46	ENSP00000250378:P157T;ENSP00000206446:P46T	ENSP00000206446:P46T	P	-	1	0	CMA1	24045205	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.513000	0.06305	-0.274000	0.09232	0.655000	0.94253	CCG		0.577	CMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276535.2			7	46	1	0	0.248553	1	0.248875	7	46				
TKTL2	84076	broad.mit.edu	37	4	164394460	164394460	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:164394460G>T	ENST00000280605.3	-	1	587	c.427C>A	c.(427-429)Ctt>Att	p.L143I		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	143						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GCCTTGTCAAGGTACTTGCCA	0.537																																						ENST00000280605.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70						c.(427-429)Ctt>Att		transketolase-like 2							114.0	112.0	113.0					4																	164394460		2203	4300	6503	SO:0001583	missense	84076					cytoplasm	metal ion binding|transketolase activity	g.chr4:164394460G>T	BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.427C>A	4.37:g.164394460G>T	ENSP00000280605:p.Leu143Ile						p.L143I	NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN			1	587	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	143					A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	c.427C>A	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	G	9.233	1.036268	0.19669	.	.	ENSG00000151005	ENST00000280605	T	0.27256	1.68	3.99	0.2	0.15181	Transketolase, N-terminal (1);	0.199218	0.43919	D	0.000512	T	0.24431	0.0592	L	0.47016	1.485	0.28586	N	0.909899	B	0.26547	0.152	B	0.39935	0.314	T	0.27806	-1.0063	10	0.29301	T	0.29	-0.2688	7.242	0.26102	0.6916:0.0:0.3084:0.0	.	143	Q9H0I9	TKTL2_HUMAN	I	143	ENSP00000280605:L143I	ENSP00000280605:L143I	L	-	1	0	TKTL2	164613910	1.000000	0.71417	0.543000	0.28128	0.903000	0.53119	3.379000	0.52440	0.037000	0.15575	-0.367000	0.07326	CTT		0.537	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		25	84	1	0	2.79863e-10	1	3.47354e-10	25	84				
GPR123	84435	broad.mit.edu	37	10	134941872	134941872	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:134941872C>G	ENST00000392607.3	+	7	976	c.540C>G	c.(538-540)taC>taG	p.Y180*	GPR123_ENST00000392606.2_Nonsense_Mutation_p.Y83*|GPR123_ENST00000607359.1_Nonsense_Mutation_p.Y899*	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	180					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GCGCCTTCTACGGCCCAGCCG	0.697																																						ENST00000607359.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14						c.(2695-2697)taC>taG		G protein-coupled receptor 123							14.0	13.0	13.0					10																	134941872		2127	4183	6310	SO:0001587	stop_gained	84435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:134941872C>G	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.540C>G	10.37:g.134941872C>G	ENSP00000376384:p.Tyr180*					GPR123_ENST00000392606.2_Nonsense_Mutation_p.Y83*|GPR123_ENST00000392607.3_Nonsense_Mutation_p.Y180*	p.Y899*			Q86SQ6	GP123_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)	16	2697	+		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)	180					A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Nonsense_Mutation	SNP	ENST00000392607.3	37	c.2697C>G	CCDS41580.1	.	.	.	.	.	.	.	.	.	.	.	19.88	3.908597	0.72868	.	.	ENSG00000197177	ENST00000368577;ENST00000392607;ENST00000392606	.	.	.	4.75	-1.8	0.07907	.	0.233450	0.29631	N	0.011618	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.4844	10.0345	0.42120	0.0:0.3801:0.0:0.6199	.	.	.	.	X	899;180;84	.	ENSP00000357566:Y899X	Y	+	3	2	GPR123	134791862	0.499000	0.26083	0.961000	0.40146	0.592000	0.36648	-0.334000	0.07883	-0.621000	0.05633	-0.339000	0.08088	TAC		0.697	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051113.2			8	19	0	0	0	1	0	8	19				
RPS6KA2	6196	broad.mit.edu	37	6	166873037	166873037	+	Silent	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:166873037C>G	ENST00000265678.4	-	12	1198	c.975G>C	c.(973-975)acG>acC	p.T325T	RPS6KA2-IT1_ENST00000416770.1_RNA|RPS6KA2_ENST00000510118.1_Silent_p.T350T|RPS6KA2_ENST00000503859.1_Silent_p.T333T|RPS6KA2_ENST00000405189.3_Silent_p.T236T|RPS6KA2_ENST00000481261.2_Silent_p.T236T	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	325	AGC-kinase C-terminal.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		TCCGGTACAGCGTCTATTAAT	0.562																																						ENST00000510118.1																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45						c.(1048-1050)acG>acC		ribosomal protein S6 kinase, 90kDa, polypeptide 2							146.0	109.0	122.0					6																	166873037		2203	4300	6503	SO:0001819	synonymous_variant	6196				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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|magnesium ion binding|protein serine/threonine kinase activity	g.chr6:166873037C>G	L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"""ribosomal protein S6 kinase, 90kD, polypeptide 2"""			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.975G>C	6.37:g.166873037C>G						RPS6KA2_ENST00000503859.1_Silent_p.T333T|RPS6KA2_ENST00000481261.2_Silent_p.T236T|RPS6KA2_ENST00000405189.3_Silent_p.T236T|RPS6KA2_ENST00000265678.4_Silent_p.T325T	p.T350T			Q15349	KS6A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)	14	1390	-		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)	325			AGC-kinase C-terminal.		B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Silent	SNP	ENST00000265678.4	37	c.1050G>C	CCDS5294.1																																																																																				0.562	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135		7	24	0	0	0	1	0	7	24				
PRKD1	5587	broad.mit.edu	37	14	30100047	30100047	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr14:30100047C>A	ENST00000331968.5	-	10	1802	c.1573G>T	c.(1573-1575)Ggt>Tgt	p.G525C	PRKD1_ENST00000415220.2_Missense_Mutation_p.G533C	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	525	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		ACATCTGCACCAACGCCACTG	0.507																																						ENST00000331968.5																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78						c.(1573-1575)Ggt>Tgt		protein kinase D1							188.0	150.0	163.0					14																	30100047		2203	4300	6503	SO:0001583	missense	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30100047C>A		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.1573G>T	14.37:g.30100047C>A	ENSP00000333568:p.Gly525Cys					PRKD1_ENST00000415220.2_Missense_Mutation_p.G533C	p.G525C	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	10	1802	-	Hepatocellular(127;0.0604)		525			PH.		A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	c.1573G>T	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.542618	0.85917	.	.	ENSG00000184304	ENST00000331968;ENST00000415220;ENST00000546371	T;T;T	0.75367	-0.93;-0.93;-0.93	5.12	5.12	0.69794	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.117006	0.56097	D	0.000034	D	0.87728	0.6250	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89376	0.3678	10	0.87932	D	0	-12.679	18.9231	0.92534	0.0:1.0:0.0:0.0	.	525	Q15139	KPCD1_HUMAN	C	525;533;106	ENSP00000333568:G525C;ENSP00000390535:G533C;ENSP00000447333:G106C	ENSP00000333568:G525C	G	-	1	0	PRKD1	29169798	1.000000	0.71417	0.207000	0.23584	0.890000	0.51754	5.959000	0.70339	2.542000	0.85734	0.655000	0.94253	GGT		0.507	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		44	110	1	0	7.63091e-17	1	1.05954e-16	44	110				
GABRG1	2565	broad.mit.edu	37	4	46053585	46053585	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:46053585A>T	ENST00000295452.4	-	8	1154	c.987T>A	c.(985-987)taT>taA	p.Y329*		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	329					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	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)	TCGCAGTCACATAAGAAACCT	0.378																																						ENST00000295452.4																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(985-987)taT>taA		gamma-aminobutyric acid (GABA) A receptor, gamma 1							103.0	95.0	98.0					4																	46053585		2203	4300	6503	SO:0001587	stop_gained	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46053585A>T	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.987T>A	4.37:g.46053585A>T	ENSP00000295452:p.Tyr329*						p.Y329*	NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	8	1154	-			329					Q5H9T8	Nonsense_Mutation	SNP	ENST00000295452.4	37	c.987T>A	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	A	35	5.467806	0.96257	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	.	.	.	5.64	-5.97	0.02227	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8856	0.70567	0.4211:0.0:0.5789:0.0	.	.	.	.	X	329	.	ENSP00000295452:Y329X	Y	-	3	2	GABRG1	45748342	0.008000	0.16893	0.564000	0.28396	0.835000	0.47333	-0.714000	0.05002	-1.145000	0.02858	-0.408000	0.06270	TAT		0.378	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		22	52	0	0	0	1	0	22	52				
ZNF324B	388569	broad.mit.edu	37	19	58967389	58967389	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:58967389C>T	ENST00000336614.4	+	4	1185	c.1078C>T	c.(1078-1080)Cgc>Tgc	p.R360C	ZNF324B_ENST00000391696.1_Missense_Mutation_p.R350C|ZNF324B_ENST00000545523.1_Missense_Mutation_p.R360C	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	360					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		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)		CAGCCAGCACCGCAAGATCCA	0.667																																						ENST00000391696.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1048-1050)Cgc>Tgc		zinc finger protein 324B							10.0	11.0	11.0					19																	58967389		2176	4239	6415	SO:0001583	missense	388569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58967389C>T	AK127750	CCDS33138.1	19q13.43	2013-01-08				ENSG00000249471		"""Zinc fingers, C2H2-type"", ""-"""	33107	protein-coding gene	gene with protein product							Standard	NM_207395		Approved	FLJ45850	uc002qsv.1	Q6AW86		ENST00000336614.4:c.1078C>T	19.37:g.58967389C>T	ENSP00000337473:p.Arg360Cys					ZNF324B_ENST00000336614.4_Missense_Mutation_p.R360C|ZNF324B_ENST00000545523.1_Missense_Mutation_p.R360C	p.R350C			Q6AW86	Z324B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	3	1980	+		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)	360					B2RTZ6|Q6ZMX8|Q6ZS42	Missense_Mutation	SNP	ENST00000336614.4	37	c.1048C>T	CCDS33138.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.061988	0.55432	.	.	ENSG00000249471	ENST00000336614;ENST00000545523;ENST00000391696	T;T;T	0.15718	2.4;2.4;2.4	3.22	2.18	0.27775	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.176168	0.27906	N	0.017367	T	0.36468	0.0968	M	0.84156	2.68	0.26293	N	0.978099	D;D	0.89917	1.0;0.998	P;P	0.62885	0.908;0.761	T	0.05649	-1.0872	10	0.87932	D	0	.	8.0245	0.30430	0.0:0.869:0.0:0.131	.	360;350	Q6AW86;C9JTQ8	Z324B_HUMAN;.	C	360;360;350	ENSP00000337473:R360C;ENSP00000438930:R360C;ENSP00000375578:R350C	ENSP00000337473:R360C	R	+	1	0	ZNF324B	63659201	0.000000	0.05858	0.995000	0.50966	0.995000	0.86356	-0.557000	0.05985	1.784000	0.52394	0.591000	0.81541	CGC		0.667	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467038.1	NM_207395		8	35	0	0	0	1	0	8	35				
KY	339855	broad.mit.edu	37	3	134322426	134322426	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:134322426G>T	ENST00000423778.2	-	11	2042	c.1981C>A	c.(1981-1983)Cag>Aag	p.Q661K	KY_ENST00000508956.1_Missense_Mutation_p.Q640K|KY_ENST00000503669.1_3'UTR	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	561					muscle organ development (GO:0007517)|neuromuscular junction development (GO:0007528)	cytoskeleton (GO:0005856)|Z disc (GO:0030018)	peptidase activity (GO:0008233)			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						AGCCCTCACTGGGCATTCACT	0.572																																						ENST00000508956.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						c.(1918-1920)Cag>Aag		kyphoscoliosis peptidase							131.0	129.0	130.0					3																	134322426		1968	4146	6114	SO:0001583	missense	339855					cytoskeleton|Z disc	peptidase activity	g.chr3:134322426G>T	AK090526	CCDS46920.1	3q22.1	2010-11-23			ENSG00000174611	ENSG00000174611			26576	protein-coding gene	gene with protein product		605739					Standard	NM_178554		Approved	FLJ33207	uc010hty.3	Q8NBH2	OTTHUMG00000159788	ENST00000423778.2:c.1981C>A	3.37:g.134322426G>T	ENSP00000397598:p.Gln661Lys					KY_ENST00000423778.2_Missense_Mutation_p.Q661K|KY_ENST00000503669.1_3'UTR	p.Q640K			Q8NBH2	KY_HUMAN			10	1975	-			561					B7Z1S4|Q6ZT15	Missense_Mutation	SNP	ENST00000423778.2	37	c.1918C>A	CCDS46920.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.426963	0.43122	.	.	ENSG00000174611	ENST00000508956;ENST00000423778;ENST00000310263	.	.	.	5.3	5.3	0.74995	.	0.166320	0.40640	N	0.001055	T	0.52773	0.1755	.	.	.	0.80722	D	1	B;B	0.33637	0.42;0.42	B;B	0.30782	0.061;0.12	T	0.58498	-0.7626	8	0.87932	D	0	.	17.1273	0.86717	0.0:0.0:1.0:0.0	.	640;661	Q8NBH2-3;Q8NBH2-4	.;.	K	640;661;562	.	ENSP00000309520:Q562K	Q	-	1	0	KY	135805116	1.000000	0.71417	0.999000	0.59377	0.926000	0.56050	4.773000	0.62331	2.484000	0.83849	0.561000	0.74099	CAG		0.572	KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357320.1	NM_178554		30	202	1	0	1.13719e-10	1	1.42982e-10	30	202				
CACNG2	10369	broad.mit.edu	37	22	36962528	36962528	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr22:36962528G>A	ENST00000300105.6	-	3	1289	c.308C>T	c.(307-309)gCc>gTc	p.A103V		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	103					membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|neuromuscular junction development (GO:0007528)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						AATGCTGGAGGCCCTCACGGC	0.572																																						ENST00000300105.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(307-309)gCc>gTc		calcium channel, voltage-dependent, gamma subunit 2							73.0	69.0	71.0					22																	36962528		2203	4300	6503	SO:0001583	missense	10369				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr22:36962528G>A	AF096322	CCDS13931.1	22q13.1	2006-08-01			ENSG00000166862	ENSG00000166862		"""Calcium channel subunits"""	1406	protein-coding gene	gene with protein product		602911					Standard	NM_006078		Approved	stargazin, MGC138502, MGC138504	uc003aps.2	Q9Y698	OTTHUMG00000030612	ENST00000300105.6:c.308C>T	22.37:g.36962528G>A	ENSP00000300105:p.Ala103Val						p.A103V	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN			3	1289	-			103					Q2M1M1|Q5TGT3|Q9UGZ7	Missense_Mutation	SNP	ENST00000300105.6	37	c.308C>T	CCDS13931.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.494704	0.85069	.	.	ENSG00000166862	ENST00000300105	T	0.41758	0.99	4.79	4.79	0.61399	.	0.058954	0.64402	D	0.000002	T	0.67664	0.2917	M	0.86573	2.825	0.80722	D	1	D	0.59767	0.986	P	0.61800	0.894	T	0.75408	-0.3328	10	0.72032	D	0.01	-12.2863	18.2288	0.89927	0.0:0.0:1.0:0.0	.	103	Q9Y698	CCG2_HUMAN	V	103	ENSP00000300105:A103V	ENSP00000300105:A103V	A	-	2	0	CACNG2	35292474	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	9.473000	0.97714	2.377000	0.81083	0.557000	0.71058	GCC		0.572	CACNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075500.2			13	59	0	0	0	1	0	13	59				
DDR2	4921	broad.mit.edu	37	1	162724444	162724444	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:162724444G>C	ENST00000367922.3	+	6	654	c.216G>C	c.(214-216)tgG>tgC	p.W72C	DDR2_ENST00000367921.3_Missense_Mutation_p.W72C	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	72	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	ATGGAGCCTGGTGCCCTGAGA	0.557																																					NSCLC(161;314 2006 8283 19651 23192)	ENST00000367922.2																			0				central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7						c.(214-216)tgG>tgC		discoidin domain receptor tyrosine kinase 2							95.0	97.0	96.0					1																	162724444		2203	4300	6503	SO:0001583	missense	4921				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:162724444G>C	AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.216G>C	1.37:g.162724444G>C	ENSP00000356899:p.Trp72Cys					DDR2_ENST00000367921.3_Missense_Mutation_p.W72C	p.W72C	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.113)		6	654	+	all_hematologic(112;0.115)		72			F5/8 type C.		Q7Z730	Missense_Mutation	SNP	ENST00000367922.3	37	c.216G>C	CCDS1241.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.825280	0.71143	.	.	ENSG00000162733	ENST00000446985;ENST00000415555;ENST00000542391;ENST00000367922;ENST00000367921	D;D;D;D	0.99878	-7.42;-7.42;-7.42;-7.42	5.37	4.45	0.53987	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.99917	0.9961	H	0.98646	4.29	0.44562	D	0.997526	D	0.89917	1.0	D	0.97110	1.0	D	0.96078	0.9051	9	0.87932	D	0	.	14.1683	0.65493	0.0:0.0:0.8488:0.1512	.	72	Q16832	DDR2_HUMAN	C	72	ENSP00000400309:W72C;ENSP00000391310:W72C;ENSP00000356899:W72C;ENSP00000356898:W72C	ENSP00000356898:W72C	W	+	3	0	DDR2	160991068	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.358000	0.97109	1.238000	0.43771	0.650000	0.86243	TGG		0.557	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182		18	96	0	0	0	1	0	18	96				
BRINP3	339479	broad.mit.edu	37	1	190234044	190234044	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:190234044C>G	ENST00000367462.3	-	4	800	c.569G>C	c.(568-570)aGc>aCc	p.S190T	BRINP3_ENST00000534846.1_Missense_Mutation_p.S88T|RP11-547I7.1_ENST00000452178.1_RNA	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	190	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											CCGAAGGGTGCTGTCCCTGTC	0.448																																						ENST00000367462.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164						c.(568-570)aGc>aCc									138.0	130.0	132.0					1																	190234044		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190234044C>G	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.569G>C	1.37:g.190234044C>G	ENSP00000356432:p.Ser190Thr					FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.S88T|RP11-547I7.1_ENST00000452178.1_RNA	p.S190T	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN			4	800	-	Prostate(682;0.198)		190					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.569G>C	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.112844	0.77210	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.21361	2.25;2.01	5.75	4.83	0.62350	Membrane attack complex component/perforin (MACPF) domain (1);	0.000000	0.85682	D	0.000000	T	0.45256	0.1333	M	0.69823	2.125	0.45118	D	0.998135	D;D	0.57257	0.974;0.979	D;D	0.71414	0.953;0.973	T	0.43909	-0.9362	10	0.56958	D	0.05	.	14.6865	0.69052	0.0:0.8541:0.1459:0.0	.	88;190	B7Z260;Q76B58	.;FAM5C_HUMAN	T	190;88	ENSP00000356432:S190T;ENSP00000438022:S88T	ENSP00000356432:S190T	S	-	2	0	FAM5C	188500667	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.333000	0.79214	1.427000	0.47276	0.585000	0.79938	AGC		0.448	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		34	107	0	0	0	1	0	34	107				
CR2	1380	broad.mit.edu	37	1	207653360	207653360	+	Silent	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:207653360T>A	ENST00000367058.3	+	17	3162	c.2973T>A	c.(2971-2973)atT>atA	p.I991I	CR2_ENST00000458541.2_Silent_p.I964I|CR2_ENST00000367057.3_Silent_p.I1050I|CR2_ENST00000367059.3_Silent_p.I929I	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	991					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CCTTCTTGATTGTCATTACCT	0.403																																						ENST00000367057.3																			0				NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(3148-3150)atT>atA		complement component (3d/Epstein Barr virus) receptor 2							229.0	210.0	217.0					1																	207653360		2203	4299	6502	SO:0001819	synonymous_variant	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207653360T>A	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.2973T>A	1.37:g.207653360T>A						CR2_ENST00000458541.2_Silent_p.I964I|CR2_ENST00000367058.3_Silent_p.I991I|CR2_ENST00000367059.3_Silent_p.I929I	p.I1050I	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN			18	3339	+			991					C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Silent	SNP	ENST00000367058.3	37	c.3150T>A	CCDS1478.1																																																																																				0.403	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		31	57	0	0	0	1	0	31	57				
C10orf12	26148	broad.mit.edu	37	10	98741370	98741370	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:98741370G>A	ENST00000286067.2	+	1	330	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	75										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AGAGGCAAATGAACAAGATGC	0.433																																						ENST00000286067.2																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45						c.(223-225)Gaa>Aaa		chromosome 10 open reading frame 12							86.0	83.0	84.0					10																	98741370		2203	4300	6503	SO:0001583	missense	26148							g.chr10:98741370G>A	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.223G>A	10.37:g.98741370G>A	ENSP00000286067:p.Glu75Lys						p.E75K	NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	1	330	+		Colorectal(252;0.172)	75					Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	37	c.223G>A	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.788388	0.70337	.	.	ENSG00000155640	ENST00000286067	T	0.12879	2.64	5.95	5.95	0.96441	.	0.000000	0.51477	D	0.000090	T	0.30324	0.0761	L	0.36672	1.1	0.42015	D	0.99095	D	0.89917	1.0	D	0.74674	0.984	T	0.00619	-1.1641	10	0.87932	D	0	-16.6686	18.5518	0.91068	0.0:0.0:1.0:0.0	.	75	Q8N655	CJ012_HUMAN	K	75	ENSP00000286067:E75K	ENSP00000286067:E75K	E	+	1	0	C10orf12	98731360	1.000000	0.71417	1.000000	0.80357	0.613000	0.37349	6.754000	0.74909	2.822000	0.97130	0.655000	0.94253	GAA		0.433	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		22	70	0	0	0	1	0	22	70				
DUOX2	50506	broad.mit.edu	37	15	45388052	45388052	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr15:45388052C>T	ENST00000603300.1	-	30	4256	c.4054G>A	c.(4054-4056)Ggc>Agc	p.G1352S	DUOX2_ENST00000389039.6_Missense_Mutation_p.G1352S	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1352	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CAGCCATTGCCCTTTGGGGAT	0.627																																						ENST00000389039.6																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63						c.(4054-4056)Ggc>Agc		dual oxidase 2							61.0	58.0	59.0					15																	45388052		2198	4298	6496	SO:0001583	missense	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45388052C>T	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.4054G>A	15.37:g.45388052C>T	ENSP00000475084:p.Gly1352Ser					DUOX2_ENST00000603300.1_Missense_Mutation_p.G1352S	p.G1352S			Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	30	4439	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1352			FAD-binding FR-type.		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	c.4054G>A	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	C	9.728	1.161504	0.21538	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.53	1.59	0.23543	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.603585	0.17397	N	0.175700	T	0.22704	0.0548	N	0.12569	0.235	0.09310	N	1	B	0.16802	0.019	B	0.23150	0.044	T	0.22730	-1.0208	9	0.21540	T	0.41	-7.6197	9.3271	0.37999	0.0:0.5679:0.0:0.4321	.	1352	Q9NRD8	DUOX2_HUMAN	S	1352	.	ENSP00000373691:G1352S	G	-	1	0	DUOX2	43175344	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.741000	0.26202	0.053000	0.16036	-0.300000	0.09419	GGC		0.627	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		18	61	0	0	0	1	0	18	61				
TRPC1	7220	broad.mit.edu	37	3	142509879	142509879	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:142509879T>G	ENST00000476941.1	+	8	1802	c.1316T>G	c.(1315-1317)aTt>aGt	p.I439S	TRPC1_ENST00000273482.6_Missense_Mutation_p.I405S	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	439					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TGGTCAGACATTAAAAGACTC	0.308																																						ENST00000273482.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						c.(1213-1215)aTt>aGt		transient receptor potential cation channel, subfamily C, member 1							105.0	112.0	110.0					3																	142509879		2203	4300	6503	SO:0001583	missense	7220				axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr3:142509879T>G	X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.1316T>G	3.37:g.142509879T>G	ENSP00000419313:p.Ile439Ser					TRPC1_ENST00000476941.1_Missense_Mutation_p.I439S	p.I405S	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN			7	1605	+			439					Q14CE4	Missense_Mutation	SNP	ENST00000476941.1	37	c.1214T>G	CCDS58856.1	.	.	.	.	.	.	.	.	.	.	T	17.11	3.305660	0.60305	.	.	ENSG00000144935	ENST00000476941;ENST00000273482;ENST00000416210	D;D	0.98777	-5.13;-5.13	5.33	5.33	0.75918	Ion transport (1);	0.051771	0.85682	D	0.000000	D	0.97396	0.9148	L	0.51422	1.61	0.80722	D	1	B;B;B	0.28512	0.077;0.077;0.214	B;B;B	0.33121	0.104;0.104;0.158	D	0.96980	0.9714	10	0.87932	D	0	-17.8929	15.3008	0.73949	0.0:0.0:0.0:1.0	.	405;439;405	A7VJS2;P48995;P48995-2	.;TRPC1_HUMAN;.	S	439;405;6	ENSP00000419313:I439S;ENSP00000273482:I405S	ENSP00000273482:I405S	I	+	2	0	TRPC1	143992569	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.503000	0.81632	2.007000	0.58848	0.454000	0.30748	ATT		0.308	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	NM_003304		19	74	0	0	0	1	0	19	74				
TCHH	7062	broad.mit.edu	37	1	152082049	152082049	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:152082049C>T	ENST00000368804.1	-	2	3643	c.3644G>A	c.(3643-3645)cGg>cAg	p.R1215Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1215					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)			ATCCTCATCCCGGTATCGCTG	0.517																																						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.(3643-3645)cGg>cAg		trichohyalin							123.0	123.0	123.0					1																	152082049		2087	4213	6300	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082049C>T	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3644G>A	1.37:g.152082049C>T	ENSP00000357794:p.Arg1215Gln						p.R1215Q	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3643	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1215					Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.3644G>A	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.488120	0.44249	.	.	ENSG00000159450	ENST00000368804	T	0.09445	2.98	3.87	-2.26	0.06867	.	.	.	.	.	T	0.01124	0.0037	N	0.19112	0.55	0.09310	N	1	P	0.35011	0.48	B	0.17979	0.02	T	0.47156	-0.9139	9	0.14252	T	0.57	.	5.5062	0.16856	0.0:0.5016:0.1347:0.3637	.	1215	Q07283	TRHY_HUMAN	Q	1215	ENSP00000357794:R1215Q	ENSP00000357794:R1215Q	R	-	2	0	TCHH	150348673	0.000000	0.05858	0.000000	0.03702	0.615000	0.37417	-0.828000	0.04419	-0.519000	0.06444	0.462000	0.41574	CGG		0.517	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		26	121	0	0	0	1	0	26	121				
SI	6476	broad.mit.edu	37	3	164727128	164727128	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:164727128C>A	ENST00000264382.3	-	35	4180	c.4118G>T	c.(4117-4119)tGg>tTg	p.W1373L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1373	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TCTGGCCCACCACTCTGCTGT	0.378										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(4117-4119)tGg>tTg		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						88.0	89.0	89.0					3																	164727128		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164727128C>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4118G>T	3.37:g.164727128C>A	ENSP00000264382:p.Trp1373Leu	HNSCC(35;0.089)					p.W1373L	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			35	4180	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1373			Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.4118G>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.379355	0.61845	.	.	ENSG00000090402	ENST00000264382	D	0.93426	-3.22	4.51	4.51	0.55191	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.97461	0.9169	M	0.92459	3.31	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.98630	1.0671	10	0.87932	D	0	.	17.3927	0.87436	0.0:1.0:0.0:0.0	.	1373	P14410	SUIS_HUMAN	L	1373	ENSP00000264382:W1373L	ENSP00000264382:W1373L	W	-	2	0	SI	166209822	1.000000	0.71417	1.000000	0.80357	0.265000	0.26407	7.059000	0.76684	2.335000	0.79485	0.491000	0.48974	TGG		0.378	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		15	86	1	0	2.61681e-11	1	3.32814e-11	15	86				
PRUNE2	158471	broad.mit.edu	37	9	79321897	79321897	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:79321897C>A	ENST00000376718.3	-	8	5416	c.5293G>T	c.(5293-5295)Gat>Tat	p.D1765Y	PRUNE2_ENST00000428286.1_Missense_Mutation_p.D1406Y	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1765					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GTCCAGGGATCAGGGCTGCTT	0.438																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(4216-4218)Gat>Tat		prune homolog 2 (Drosophila)							172.0	135.0	146.0					9																	79321897		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79321897C>A	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.5293G>T	9.37:g.79321897C>A	ENSP00000365908:p.Asp1765Tyr					PRUNE2_ENST00000376718.3_Missense_Mutation_p.D1765Y	p.D1406Y			Q8WUY3	PRUN2_HUMAN			8	5416	-			1765					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.4216G>T	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.70|14.70	2.614349|2.614349	0.46631|0.46631	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|.	0.54279|.	0.58;0.58|.	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	0.343008|.	0.25130|.	N|.	0.032920|.	T|.	0.71904|.	0.3395|.	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	D|.	0.71674|.	0.998|.	P|.	0.60173|.	0.87|.	T|.	0.67772|.	-0.5584|.	10|.	0.87932|.	D|.	0|.	-7.3706|-7.3706	17.2761|17.2761	0.87115|0.87115	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1765|.	Q8WUY3|.	PRUN2_HUMAN|.	Y|L	1765;1406;1764|1086	ENSP00000365908:D1765Y;ENSP00000397425:D1406Y|.	ENSP00000365908:D1765Y|.	D|X	-|-	1|2	0|2	PRUNE2|PRUNE2	78511717|78511717	0.624000|0.624000	0.27102|0.27102	0.958000|0.958000	0.39756|0.39756	0.091000|0.091000	0.18340|0.18340	1.081000|1.081000	0.30791|0.30791	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	GAT|TGA		0.438	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		16	75	1	0	0.000422831	1	0.000446547	16	75				
THSD7A	221981	broad.mit.edu	37	7	11676005	11676005	+	Silent	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:11676005C>A	ENST00000423059.4	-	2	1025	c.774G>T	c.(772-774)ggG>ggT	p.G258G	THSD7A_ENST00000480061.1_5'Flank	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	258					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TGCTCCAGGGCCCCACATGCA	0.582										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(772-774)ggG>ggT		thrombospondin, type I, domain containing 7A							76.0	74.0	75.0					7																	11676005		2051	4181	6232	SO:0001819	synonymous_variant	221981					integral to membrane		g.chr7:11676005C>A		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.774G>T	7.37:g.11676005C>A		HNSCC(18;0.044)					p.G258G	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	2	1025	-			258						Silent	SNP	ENST00000423059.4	37	c.774G>T	CCDS47543.1																																																																																				0.582	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		22	81	1	0	2.37509e-13	1	3.12896e-13	22	81				
ABCA9	10350	broad.mit.edu	37	17	67023953	67023953	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:67023953G>A	ENST00000340001.4	-	13	1830	c.1619C>T	c.(1618-1620)tCa>tTa	p.S540L	ABCA9_ENST00000370732.2_Missense_Mutation_p.S540L|ABCA9_ENST00000453985.2_Missense_Mutation_p.S540L	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	540	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GACAGTGACTGAACCTGAAAG	0.353																																						ENST00000340001.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(1618-1620)tCa>tTa		ATP-binding cassette, sub-family A (ABC1), member 9							70.0	71.0	71.0					17																	67023953		2202	4300	6502	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67023953G>A	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.1619C>T	17.37:g.67023953G>A	ENSP00000342216:p.Ser540Leu					ABCA9_ENST00000453985.2_Missense_Mutation_p.S540L|ABCA9_ENST00000370732.2_Missense_Mutation_p.S540L	p.S540L	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			13	1830	-	Breast(10;1.47e-12)		540			ABC transporter 1.		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.1619C>T	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	G	9.125	1.009955	0.19277	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.94092	-3.35;-3.35	5.34	5.34	0.76211	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.42682	D	0.000676	D	0.89375	0.6697	L	0.45228	1.405	0.53005	D	0.999963	B;B	0.31968	0.349;0.06	B;B	0.36845	0.234;0.12	D	0.84467	0.0597	10	0.10377	T	0.69	.	11.4714	0.50270	0.0836:0.0:0.9164:0.0	.	540;540	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	L	540;523;540;535	ENSP00000342216:S540L;ENSP00000359767:S540L	ENSP00000342216:S540L	S	-	2	0	ABCA9	64535548	0.994000	0.37717	0.629000	0.29254	0.175000	0.22909	3.377000	0.52425	2.666000	0.90696	0.591000	0.81541	TCA		0.353	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		16	66	0	0	0	1	0	16	66				
CNGA4	1262	broad.mit.edu	37	11	6261621	6261621	+	Missense_Mutation	SNP	C	C	A	rs145756754	byFrequency	TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:6261621C>A	ENST00000379936.2	+	4	712	c.597C>A	c.(595-597)gaC>gaA	p.D199E	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	199					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 cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCGGGCGTGACGCATGGGTGT	0.557																																						ENST00000379936.2																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40						c.(595-597)gaC>gaA		cyclic nucleotide gated channel alpha 4							63.0	68.0	66.0					11																	6261621		2200	4295	6495	SO:0001583	missense	1262				response to stimulus|sensory perception of smell		cAMP binding	g.chr11:6261621C>A	AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2152	protein-coding gene	gene with protein product		609472	"""cyclic nucleotide gated channel beta 2"""	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.597C>A	11.37:g.6261621C>A	ENSP00000369268:p.Asp199Glu					CNGA4_ENST00000533426.1_Intron	p.D199E	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	4	712	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	199						Missense_Mutation	SNP	ENST00000379936.2	37	c.597C>A	CCDS31408.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.351127	0.41599	.	.	ENSG00000132259	ENST00000379936	D	0.98345	-4.88	5.25	-3.64	0.04515	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98520	0.9506	M	0.91818	3.245	0.27263	N	0.958589	D;P	0.58268	0.982;0.934	P;P	0.59703	0.862;0.694	D	0.97604	1.0125	10	0.72032	D	0.01	.	12.0915	0.53728	0.0:0.4499:0.0:0.5501	.	199;159	Q8IV77;Q8IV77-2	CNGA4_HUMAN;.	E	199	ENSP00000369268:D199E	ENSP00000369268:D199E	D	+	3	2	CNGA4	6218197	0.000000	0.05858	0.001000	0.08648	0.165000	0.22458	-0.432000	0.06956	-0.661000	0.05345	0.650000	0.86243	GAC		0.557	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329		36	141	1	0	1.36161e-19	1	1.95748e-19	36	141				
SMG6	23293	broad.mit.edu	37	17	2202737	2202737	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:2202737C>G	ENST00000263073.6	-	2	1360	c.1310G>C	c.(1309-1311)gGa>gCa	p.G437A	SMG6_ENST00000544865.1_Missense_Mutation_p.G406A	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	437	Interaction with telomeric DNA.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)	p.G437V(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ACTACCAGATCCAAACAAAAG	0.542																																					Melanoma(59;28 1088 11621 25887 46638 50814)	ENST00000544865.1																			1	Substitution - Missense(1)	p.G437V(1)	urinary_tract(1)	NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1216-1218)gGa>gCa		SMG6 nonsense mediated mRNA decay factor							93.0	104.0	100.0					17																	2202737		2203	4300	6503	SO:0001583	missense	23293				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	g.chr17:2202737C>G	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.1310G>C	17.37:g.2202737C>G	ENSP00000263073:p.Gly437Ala					SMG6_ENST00000263073.5_Missense_Mutation_p.G437A	p.G406A			Q86US8	EST1A_HUMAN			2	1727	-			437			Interaction with telomeric DNA.		B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	ENST00000263073.6	37	c.1217G>C	CCDS11016.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.299566	0.60195	.	.	ENSG00000070366	ENST00000263073;ENST00000544865	T;T	0.12672	2.67;2.66	5.54	5.54	0.83059	.	0.308380	0.33813	N	0.004539	T	0.15565	0.0375	N	0.19112	0.55	0.47994	D	0.999561	D	0.67145	0.996	P	0.59948	0.866	T	0.05852	-1.0860	10	0.07030	T	0.85	-5.8631	12.0392	0.53444	0.0:0.9208:0.0:0.0791	.	437	Q86US8	EST1A_HUMAN	A	437;406	ENSP00000263073:G437A;ENSP00000443920:G406A	ENSP00000263073:G437A	G	-	2	0	SMG6	2149487	0.999000	0.42202	1.000000	0.80357	0.948000	0.59901	3.278000	0.51662	2.592000	0.87571	0.650000	0.86243	GGA		0.542	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			57	192	0	0	0	1	0	57	192				
GPATCH2	55105	broad.mit.edu	37	1	217783730	217783730	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:217783730C>A	ENST00000366935.3	-	5	1141	c.1031G>T	c.(1030-1032)aGa>aTa	p.R344I	GPATCH2_ENST00000366934.3_Missense_Mutation_p.R344I	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	344					negative regulation of phosphatase activity (GO:0010923)		nucleic acid binding (GO:0003676)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		GCGACTGAGTCTAGCTTGGAA	0.348																																						ENST00000366935.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35						c.(1030-1032)aGa>aTa		G patch domain containing 2							98.0	104.0	102.0					1																	217783730		2203	4300	6503	SO:0001583	missense	55105					intracellular	nucleic acid binding	g.chr1:217783730C>A	AK001114	CCDS1518.1, CCDS73031.1	1q41	2013-01-28		2006-12-13	ENSG00000092978	ENSG00000092978		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""G patch domain containing"""	25499	protein-coding gene	gene with protein product	"""cancer/testis antigen 110"", ""protein phosphatase 1, regulatory subunit 30"""			GPATC2		19432882, 15375528	Standard	XM_005273174		Approved	FLJ10252, CT110, PPP1R30	uc001hlf.1	Q9NW75	OTTHUMG00000000527	ENST00000366935.3:c.1031G>T	1.37:g.217783730C>A	ENSP00000355902:p.Arg344Ile					GPATCH2_ENST00000366934.3_Missense_Mutation_p.R344I	p.R344I	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)	5	1141	-			344					Q5VYK7|Q5VYK8|Q86YE7	Missense_Mutation	SNP	ENST00000366935.3	37	c.1031G>T	CCDS1518.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.882635	0.72410	.	.	ENSG00000092978	ENST00000366935;ENST00000366934	T;T	0.66099	0.45;-0.19	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.81987	0.4939	M	0.80847	2.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.988;0.997	T	0.82506	-0.0423	10	0.87932	D	0	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	344;344	Q9NW75-2;Q9NW75	.;GPTC2_HUMAN	I	344	ENSP00000355902:R344I;ENSP00000355901:R344I	ENSP00000355901:R344I	R	-	2	0	GPATCH2	215850353	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	5.932000	0.70121	2.894000	0.99253	0.591000	0.81541	AGA		0.348	GPATCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001272.1	NM_018040		53	107	1	0	4.0306e-16	1	5.50729e-16	53	107				
PPP1R9A	55607	broad.mit.edu	37	7	94540233	94540233	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:94540233G>T	ENST00000433881.1	+	2	1340	c.808G>T	c.(808-810)Gat>Tat	p.D270Y	PPP1R9A_ENST00000289495.5_Missense_Mutation_p.D270Y|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.D270Y|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.D270Y|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.D270Y|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.D270Y			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	270					actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TGATACAGAGGATGCTCACAA	0.443										HNSCC(28;0.073)																												ENST00000289495.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71						c.(808-810)Gat>Tat		protein phosphatase 1, regulatory subunit 9A							69.0	58.0	62.0					7																	94540233		2203	4300	6503	SO:0001583	missense	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94540233G>T	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.808G>T	7.37:g.94540233G>T	ENSP00000398870:p.Asp270Tyr	HNSCC(28;0.073)				PPP1R9A_ENST00000456331.2_Missense_Mutation_p.D270Y|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.D270Y|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.D270Y|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.D270Y|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.D270Y	p.D270Y	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		1	1024	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		270					A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	c.808G>T	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	G	8.495	0.862871	0.17178	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	D;D;D;D;D;D	0.93763	-3.28;-3.28;-3.28;-3.28;-3.28;-3.28	5.22	3.41	0.39046	.	0.209756	0.47852	D	0.000218	D	0.90841	0.7123	L	0.44542	1.39	0.33065	D	0.534631	P;D;D;P;B	0.56287	0.681;0.975;0.975;0.61;0.068	B;P;P;B;B	0.53401	0.254;0.637;0.725;0.086;0.015	D	0.90070	0.4162	9	.	.	.	.	3.2674	0.06870	0.3241:0.2045:0.4713:0.0	.	270;270;270;270;270	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	Y	270	ENSP00000405514:D270Y;ENSP00000344524:D270Y;ENSP00000411342:D270Y;ENSP00000398870:D270Y;ENSP00000289495:D270Y;ENSP00000402893:D270Y	.	D	+	1	0	PPP1R9A	94378169	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	2.094000	0.41719	1.582000	0.49881	0.585000	0.79938	GAT		0.443	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		15	58	1	0	0.00244969	1	0.00254531	15	58				
SAAL1	113174	broad.mit.edu	37	11	18124868	18124868	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:18124868G>T	ENST00000524803.1	-	2	210	c.161C>A	c.(160-162)tCt>tAt	p.S54Y	SAAL1_ENST00000529318.1_Missense_Mutation_p.S54Y|SAAL1_ENST00000533851.1_5'UTR|SAAL1_ENST00000300013.4_Missense_Mutation_p.S54Y			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	54										breast(2)|large_intestine(5)|lung(8)	15						ATCTGAGCTAGATTTGGTGTT	0.403																																						ENST00000524803.1																			0				breast(2)|large_intestine(5)|lung(8)	15						c.(160-162)tCt>tAt		serum amyloid A-like 1							182.0	164.0	170.0					11																	18124868		2200	4293	6493	SO:0001583	missense	113174				acute-phase response	extracellular region	binding	g.chr11:18124868G>T	AK123457	CCDS31439.1	11p15.1	2005-10-28			ENSG00000166788	ENSG00000166788			25158	protein-coding gene	gene with protein product							Standard	NM_138421		Approved	FLJ41463	uc001mnq.3	Q96ER3	OTTHUMG00000166428	ENST00000524803.1:c.161C>A	11.37:g.18124868G>T	ENSP00000432487:p.Ser54Tyr					SAAL1_ENST00000533851.1_5'UTR|SAAL1_ENST00000529318.1_Missense_Mutation_p.S54Y|SAAL1_ENST00000300013.4_Missense_Mutation_p.S54Y	p.S54Y			Q96ER3	SAAL1_HUMAN			2	210	-			54					A6NH05	Missense_Mutation	SNP	ENST00000524803.1	37	c.161C>A	CCDS31439.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.79|17.79	3.476094|3.476094	0.63737|0.63737	.|.	.|.	ENSG00000166788|ENSG00000166788	ENST00000532452|ENST00000524803;ENST00000300013;ENST00000529318;ENST00000530180	.|T;T;T;T	.|0.41400	.|1.0;1.0;1.0;1.0	5.92|5.92	4.96|4.96	0.65561|0.65561	.|Armadillo-type fold (1);	.|0.215417	.|0.31335	.|N	.|0.007836	T|T	0.44095|0.44095	0.1277|0.1277	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	.|D;D;D	.|0.54964	.|0.969;0.969;0.969	.|P;P;P	.|0.54100	.|0.742;0.742;0.742	T|T	0.32929|0.32929	-0.9888|-0.9888	5|10	.|0.52906	.|T	.|0.07	-9.8598|-9.8598	13.8356|13.8356	0.63408|0.63408	0.0:0.1533:0.8467:0.0|0.0:0.1533:0.8467:0.0	.|.	.|54;54;54	.|E9PRZ1;G1UCX3;Q96ER3	.|.;.;SAAL1_HUMAN	I|Y	47|54	.|ENSP00000432487:S54Y;ENSP00000300013:S54Y;ENSP00000432216:S54Y;ENSP00000431489:S54Y	.|ENSP00000300013:S54Y	L|S	-|-	1|2	2|0	SAAL1|SAAL1	18081444|18081444	0.212000|0.212000	0.23540|0.23540	0.116000|0.116000	0.21606|0.21606	0.133000|0.133000	0.20885|0.20885	2.602000|2.602000	0.46257|0.46257	2.809000|2.809000	0.96659|0.96659	0.655000|0.655000	0.94253|0.94253	CTA|TCT		0.403	SAAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389728.1	NM_138421		41	163	1	0	6.2361e-21	1	9.08353e-21	41	163				
ARPC2	10109	broad.mit.edu	37	2	219103471	219103471	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:219103471G>T	ENST00000295685.10	+	5	614	c.353G>T	c.(352-354)cGa>cTa	p.R118L	ARPC2_ENST00000477992.1_3'UTR|ARPC2_ENST00000315717.5_Missense_Mutation_p.R118L	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	118					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		ATGTTGAAGCGAAATTGTTTT	0.423																																						ENST00000295685.10																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6						c.(352-354)cGa>cTa		actin related protein 2/3 complex, subunit 2, 34kDa							139.0	137.0	138.0					2																	219103471		2203	4300	6503	SO:0001583	missense	10109				cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton	g.chr2:219103471G>T	AF006085	CCDS2410.1	2q36.1	2011-07-06	2002-08-29		ENSG00000163466	ENSG00000163466		"""Actin related protein 2/3 complex subunits"""	705	protein-coding gene	gene with protein product		604224	"""actin related protein 2/3 complex, subunit 2 (34 kD)"""			9359840, 9230079	Standard	NM_005731		Approved	p34-Arc, ARC34	uc002vhd.4	O15144	OTTHUMG00000133618	ENST00000295685.10:c.353G>T	2.37:g.219103471G>T	ENSP00000295685:p.Arg118Leu					ARPC2_ENST00000477992.1_3'UTR|ARPC2_ENST00000315717.5_Missense_Mutation_p.R118L	p.R118L	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)	5	614	+		Renal(207;0.0474)	118					Q92801|Q9P1D4	Missense_Mutation	SNP	ENST00000295685.10	37	c.353G>T	CCDS2410.1	.	.	.	.	.	.	.	.	.	.	G	33	5.199146	0.94997	.	.	ENSG00000163466	ENST00000315717;ENST00000295685	.	.	.	5.52	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.84665	0.5522	H	0.94620	3.56	0.80722	D	1	D	0.65815	0.995	P	0.61722	0.893	D	0.88458	0.3053	9	0.87932	D	0	.	14.941	0.70994	0.0696:0.0:0.9304:0.0	.	118	O15144	ARPC2_HUMAN	L	118	.	ENSP00000295685:R118L	R	+	2	0	ARPC2	218811716	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.810000	0.86072	2.873000	0.98535	0.563000	0.77884	CGA		0.423	ARPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256777.2	NM_005731		13	195	1	0	0.000151284	1	0.000163117	13	195				
RYR2	6262	broad.mit.edu	37	1	237777849	237777849	+	Silent	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:237777849G>C	ENST00000366574.2	+	37	5738	c.5421G>C	c.(5419-5421)cgG>cgC	p.R1807R	RYR2_ENST00000542537.1_Silent_p.R1791R|RYR2_ENST00000360064.6_Silent_p.R1805R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1807	4 X approximate repeats.				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)			TTCATGCCCGGGACCCAGTTG	0.478																																						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.(5419-5421)cgG>cgC		ryanodine receptor 2 (cardiac)							190.0	179.0	182.0					1																	237777849		1931	4138	6069	SO:0001819	synonymous_variant	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.chr1:237777849G>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5421G>C	1.37:g.237777849G>C						RYR2_ENST00000542537.1_Silent_p.R1791R|RYR2_ENST00000360064.6_Silent_p.R1805R	p.R1807R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		37	5738	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1807			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.5421G>C	CCDS55691.1																																																																																				0.478	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		93	225	0	0	0	1	0	93	225				
SNX32	254122	broad.mit.edu	37	11	65619987	65619987	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:65619987C>G	ENST00000308342.6	+	10	1302	c.877C>G	c.(877-879)Ctg>Gtg	p.L293V		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	293					intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		GTCAGACATGCTGAGGTACTA	0.632																																						ENST00000308342.6																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(877-879)Ctg>Gtg		sorting nexin 32							95.0	84.0	88.0					11																	65619987		2201	4297	6498	SO:0001583	missense	254122				cell communication|protein transport		phosphatidylinositol binding	g.chr11:65619987C>G	AK055496	CCDS8113.2	11q13.1	2008-03-11	2008-03-11	2008-03-11	ENSG00000172803	ENSG00000172803		"""Sorting nexins"""	26423	protein-coding gene	gene with protein product			"""sorting nexin 6B"""	SNX6B		16782399	Standard	XM_005273871		Approved	FLJ30934	uc001ofr.3	Q86XE0	OTTHUMG00000128491	ENST00000308342.6:c.877C>G	11.37:g.65619987C>G	ENSP00000310620:p.Leu293Val						p.L293V	NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN		READ - Rectum adenocarcinoma(159;0.171)	10	1302	+			293					Q8IW53|Q96NG4	Missense_Mutation	SNP	ENST00000308342.6	37	c.877C>G	CCDS8113.2	.	.	.	.	.	.	.	.	.	.	C	18.77	3.693821	0.68386	.	.	ENSG00000172803	ENST00000308342	T	0.34859	1.34	5.0	4.08	0.47627	Vps5 C-terminal (1);	0.149536	0.31134	N	0.008196	T	0.47021	0.1423	M	0.87456	2.885	0.32721	N	0.51025	P	0.47484	0.896	P	0.46758	0.526	T	0.65409	-0.6175	10	0.87932	D	0	-12.2455	6.8308	0.23909	0.0:0.728:0.1797:0.0924	.	293	Q86XE0	SNX32_HUMAN	V	293	ENSP00000310620:L293V	ENSP00000310620:L293V	L	+	1	2	SNX32	65376563	1.000000	0.71417	0.997000	0.53966	0.922000	0.55478	1.128000	0.31369	1.315000	0.45114	0.561000	0.74099	CTG		0.632	SNX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250295.3	NM_152760		24	102	0	0	0	1	0	24	102				
GALK2	2585	broad.mit.edu	37	15	49531541	49531541	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr15:49531541G>T	ENST00000560031.1	+	5	788	c.481G>T	c.(481-483)Gtg>Ttg	p.V161L	GALK2_ENST00000544523.1_Missense_Mutation_p.V137L|GALK2_ENST00000561014.1_3'UTR|GALK2_ENST00000396509.2_Missense_Mutation_p.V137L|GALK2_ENST00000327171.3_Missense_Mutation_p.V150L|GALK2_ENST00000559454.1_Missense_Mutation_p.V137L|GALK2_ENST00000543495.1_Missense_Mutation_p.V32L			Q01415	GALK2_HUMAN	galactokinase 2	161					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)		GACGCTCACAGTGCTGGGAAG	0.468																																						ENST00000327171.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(448-450)Gtg>Ttg		galactokinase 2							111.0	84.0	93.0					15																	49531541		2196	4295	6491	SO:0001583	missense	2585				galactose metabolic process	cytoplasm	ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity	g.chr15:49531541G>T		CCDS32236.1, CCDS42034.1, CCDS73724.1	15q21.1-q21.2	2013-09-20			ENSG00000156958	ENSG00000156958	2.7.1.6		4119	protein-coding gene	gene with protein product		137028					Standard	XM_005254279		Approved	GK2	uc001zxj.1	Q01415	OTTHUMG00000172325	ENST00000560031.1:c.481G>T	15.37:g.49531541G>T	ENSP00000453129:p.Val161Leu					GALK2_ENST00000560031.1_Missense_Mutation_p.V161L|GALK2_ENST00000544523.1_Missense_Mutation_p.V137L|GALK2_ENST00000561014.1_3'UTR|GALK2_ENST00000396509.2_Missense_Mutation_p.V137L|GALK2_ENST00000559454.1_Missense_Mutation_p.V137L|GALK2_ENST00000543495.1_Missense_Mutation_p.V32L	p.V150L	NM_001001556.1	NP_001001556.1	Q01415	GALK2_HUMAN		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)	5	680	+		all_lung(180;0.000325)	161					Q7Z4Q4	Missense_Mutation	SNP	ENST00000560031.1	37	c.448G>T	CCDS42034.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.075296	0.55646	.	.	ENSG00000156958	ENST00000327171;ENST00000396509;ENST00000543495;ENST00000544523	D;D;D	0.81821	-1.54;-1.54;-1.54	4.96	4.96	0.65561	Ribosomal protein S5 domain 2-type fold (1);GHMP kinase (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.055130	0.64402	D	0.000001	T	0.62925	0.2468	N	0.03324	-0.35	0.39974	D	0.974832	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.003	T	0.60485	-0.7254	10	0.35671	T	0.21	-28.0468	16.7584	0.85506	0.0:0.0:1.0:0.0	.	161;150	Q01415;Q7Z4Q4	GALK2_HUMAN;.	L	150;161;32;137	ENSP00000316632:V150L;ENSP00000443220:V32L;ENSP00000440312:V137L	ENSP00000316632:V150L	V	+	1	0	GALK2	47318833	1.000000	0.71417	0.592000	0.28758	0.680000	0.39746	8.659000	0.91116	2.461000	0.83175	0.655000	0.94253	GTG		0.468	GALK2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417854.1			10	55	1	0	1.58986e-06	1	1.80496e-06	10	55				
SGSH	6448	broad.mit.edu	37	17	78196510	78196510	+	5'Flank	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:78196510C>G	ENST00000326317.6	-	0	0				SLC26A11_ENST00000571602.1_3'UTR|SLC26A11_ENST00000572725.1_Silent_p.S97S|SGSH_ENST00000570923.1_5'Flank|SGSH_ENST00000572208.1_5'Flank|SLC26A11_ENST00000546047.2_Silent_p.S97S|SGSH_ENST00000534910.1_5'Flank|SLC26A11_ENST00000411502.3_Silent_p.S97S|SLC26A11_ENST00000361193.3_Silent_p.S97S	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase						carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|metal ion binding (GO:0046872)|N-sulfoglucosamine sulfohydrolase activity (GO:0016250)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TGGGCACCTCCCGGGATGTGA	0.617																																						ENST00000361193.3																			0				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28						c.(289-291)tcC>tcG		solute carrier family 26 (anion exchanger), member 11							206.0	162.0	177.0					17																	78196510		2203	4300	6503	SO:0001631	upstream_gene_variant	284129					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity	g.chr17:78196510C>G	BC047318	CCDS11770.1	17q25.3	2011-11-08	2008-07-31			ENSG00000181523	3.10.1.1		10818	protein-coding gene	gene with protein product	"""sulfamidase"", ""mucopolysaccharidosis type IIIA"""	605270				7493035	Standard	NM_000199		Approved	HSS, MPS3A, SFMD	uc002jxz.4	P51688			17.37:g.78196510C>G	Exception_encountered					SLC26A11_ENST00000411502.3_Silent_p.S97S|SLC26A11_ENST00000571602.1_3'UTR|SLC26A11_ENST00000546047.2_Silent_p.S97S|SLC26A11_ENST00000572725.1_Silent_p.S97S	p.S97S	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		4	571	+	all_neural(118;0.0538)		97					A8K5E2	Silent	SNP	ENST00000326317.6	37	c.291C>G	CCDS11770.1																																																																																				0.617	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437695.1	NM_000199		44	170	0	0	0	1	0	44	170				
NPM3	10360	broad.mit.edu	37	10	103542039	103542039	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:103542039G>C	ENST00000370110.5	-	4	416	c.394C>G	c.(394-396)Cgg>Ggg	p.R132G	NPM3_ENST00000474993.1_5'UTR	NM_006993.2	NP_008924.1	O75607	NPM3_HUMAN	nucleophosmin/nucleoplasmin 3	132					rRNA processing (GO:0006364)|rRNA transcription (GO:0009303)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|lung(1)|skin(1)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		CCAGTGATCCGCACAGGGCCA	0.617																																						ENST00000370110.5																			0				large_intestine(3)|lung(1)|skin(1)	5						c.(394-396)Cgg>Ggg		nucleophosmin/nucleoplasmin 3							58.0	58.0	58.0					10																	103542039		2203	4300	6503	SO:0001583	missense	10360						nucleic acid binding	g.chr10:103542039G>C	AY049737	CCDS7519.1	10q24.31	2009-08-27	2009-08-27		ENSG00000107833	ENSG00000107833			7931	protein-coding gene	gene with protein product		606456				11722795	Standard	NM_006993		Approved		uc001ktt.3	O75607	OTTHUMG00000018942	ENST00000370110.5:c.394C>G	10.37:g.103542039G>C	ENSP00000359128:p.Arg132Gly					NPM3_ENST00000474993.1_5'UTR	p.R132G	NM_006993.2	NP_008924.1	O75607	NPM3_HUMAN		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)	4	416	-		Colorectal(252;0.122)	132					Q9UNY6	Missense_Mutation	SNP	ENST00000370110.5	37	c.394C>G	CCDS7519.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.184343	0.38609	.	.	ENSG00000107833	ENST00000370110	T	0.42131	0.98	5.67	1.65	0.23941	Nucleoplasmin core (2);	0.864844	0.10346	N	0.685746	T	0.26882	0.0658	N	0.22421	0.69	0.09310	N	1	P	0.39847	0.691	B	0.37833	0.259	T	0.13098	-1.0522	10	0.59425	D	0.04	-2.1818	5.2787	0.15663	0.1471:0.0:0.5658:0.2871	.	132	O75607	NPM3_HUMAN	G	132	ENSP00000359128:R132G	ENSP00000359128:R132G	R	-	1	2	NPM3	103532029	0.114000	0.22134	0.438000	0.26821	0.865000	0.49528	0.223000	0.17719	0.042000	0.15717	-0.169000	0.13324	CGG		0.617	NPM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050003.2	NM_006993		7	22	0	0	0	1	0	7	22				
UGT2B4	7363	broad.mit.edu	37	4	70361130	70361130	+	Silent	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:70361130T>C	ENST00000305107.6	-	1	496	c.450A>G	c.(448-450)gcA>gcG	p.A150A	UGT2B4_ENST00000512583.1_Silent_p.A150A|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Splice_Site	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	150					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	AAACAGCATCTGCAAGAACAA	0.393																																						ENST00000381096.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						c.e2-2		UDP glucuronosyltransferase 2 family, polypeptide B4							45.0	46.0	46.0					4																	70361130		2169	4293	6462	SO:0001819	synonymous_variant	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70361130T>C	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.450A>G	4.37:g.70361130T>C						UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000305107.6_Silent_p.A150A|UGT2B4_ENST00000512583.1_Silent_p.A150A				P06133	UD2B4_HUMAN			2	328	-								A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Splice_Site	SNP	ENST00000305107.6	37		CCDS43234.1	.	.	.	.	.	.	.	.	.	.	T	3.721	-0.057527	0.07317	.	.	ENSG00000156096	ENST00000381096	.	.	.	2.4	-0.581	0.11713	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.6832	0.08319	0.0:0.1409:0.2229:0.6362	.	.	.	.	.	-1	.	.	.	-	.	.	UGT2B4	70395719	0.003000	0.15002	0.002000	0.10522	0.020000	0.10135	-0.950000	0.03889	-0.223000	0.09943	0.248000	0.18094	.		0.393	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		14	54	0	0	0	1	0	14	54				
SLFN12	55106	broad.mit.edu	37	17	33738761	33738761	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:33738761G>A	ENST00000394562.1	-	6	1856	c.1333C>T	c.(1333-1335)Ctt>Ttt	p.L445F	SLFN12_ENST00000452764.3_Missense_Mutation_p.L445F|SLFN12_ENST00000460530.1_5'UTR|RP11-686D22.8_ENST00000587012.1_RNA|SLFN12_ENST00000304905.5_Missense_Mutation_p.L445F			Q8IYM2	SLN12_HUMAN	schlafen family member 12	445							ATP binding (GO:0005524)			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GAAATCAGAAGAGCATCACAG	0.468																																						ENST00000394562.1																			0				breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(1333-1335)Ctt>Ttt		schlafen family member 12							106.0	105.0	105.0					17																	33738761		2203	4300	6503	SO:0001583	missense	55106						ATP binding	g.chr17:33738761G>A	AK001122	CCDS11295.1	17q12	2006-04-05			ENSG00000172123	ENSG00000172123			25500	protein-coding gene	gene with protein product		614955				12477932	Standard	NM_018042		Approved	FLJ10260	uc002hji.4	Q8IYM2	OTTHUMG00000132952	ENST00000394562.1:c.1333C>T	17.37:g.33738761G>A	ENSP00000378063:p.Leu445Phe					SLFN12_ENST00000452764.3_Missense_Mutation_p.L445F|SLFN12_ENST00000304905.5_Missense_Mutation_p.L445F|SLFN12_ENST00000460530.1_5'UTR	p.L445F			Q8IYM2	SLN12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	1856	-		Ovarian(249;0.17)	445					A8K711|Q9NP47	Missense_Mutation	SNP	ENST00000394562.1	37	c.1333C>T	CCDS11295.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.278218	0.80692	.	.	ENSG00000172123	ENST00000394562;ENST00000304905;ENST00000452764	T;T;T	0.12465	2.68;2.68;2.68	3.22	3.22	0.36961	.	.	.	.	.	T	0.37812	0.1017	M	0.84219	2.685	0.27081	N	0.963086	D	0.89917	1.0	D	0.80764	0.994	T	0.08806	-1.0704	9	0.87932	D	0	.	10.0769	0.42366	0.0:0.0:1.0:0.0	.	445	Q8IYM2	SLN12_HUMAN	F	445	ENSP00000378063:L445F;ENSP00000302077:L445F;ENSP00000394903:L445F	ENSP00000302077:L445F	L	-	1	0	SLFN12	30762874	1.000000	0.71417	0.439000	0.26833	0.849000	0.48306	2.436000	0.44819	1.776000	0.52262	0.536000	0.68110	CTT		0.468	SLFN12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256491.1	NM_018042		26	154	0	0	0	1	0	26	154				
KMT2C	58508	broad.mit.edu	37	7	151960216	151960216	+	Splice_Site	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:151960216C>A	ENST00000262189.6	-	9	1403		c.e9-1		KMT2C_ENST00000355193.2_Splice_Site	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C						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)										TCCCGATTGTCTAAAAAATAA	0.338																																						ENST00000355193.2																			0											c.e9-1		lysine (K)-specific methyltransferase 2C							78.0	70.0	72.0					7																	151960216		2203	4299	6502	SO:0001630	splice_region_variant	58508							g.chr7:151960216C>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1185-1G>T	7.37:g.151960216C>A						KMT2C_ENST00000262189.6_Splice_Site								9	1403	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Splice_Site	SNP	ENST00000262189.6	37		CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.512381	0.85389	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	4.65	4.65	0.58169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.923	0.88973	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MLL3	151591149	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.639000	0.83342	2.300000	0.77407	0.557000	0.71058	.		0.338	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		Intron	30	91	1	0	1.75199e-13	1	2.31202e-13	30	91				
VPS39	23339	broad.mit.edu	37	15	42476799	42476799	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr15:42476799C>A	ENST00000348544.4	-	9	666	c.667G>T	c.(667-669)Gat>Tat	p.D223Y	VPS39_ENST00000318006.5_Missense_Mutation_p.D212Y			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	223	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		GTGAGATCATCCTGGCCCACA	0.532																																						ENST00000318006.5																			0				breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(634-636)Gat>Tat		vacuolar protein sorting 39 homolog (S. cerevisiae)							231.0	209.0	217.0					15																	42476799		2203	4299	6502	SO:0001583	missense	23339				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity	g.chr15:42476799C>A	AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"""vacuolar protein sorting 39 (yeast)"""			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.667G>T	15.37:g.42476799C>A	ENSP00000335193:p.Asp223Tyr					VPS39_ENST00000348544.4_Missense_Mutation_p.D223Y	p.D212Y	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	8	796	-		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	223			CNH.		O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Missense_Mutation	SNP	ENST00000348544.4	37	c.634G>T	CCDS10083.1	.	.	.	.	.	.	.	.	.	.	C	32	5.148907	0.94645	.	.	ENSG00000166887	ENST00000318006;ENST00000348544	T;T	0.05786	3.39;3.39	5.67	5.67	0.87782	Citron-like (2);	0.048685	0.85682	D	0.000000	T	0.29850	0.0746	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.988	T	0.01273	-1.1399	10	0.87932	D	0	-15.2601	19.7728	0.96373	0.0:1.0:0.0:0.0	.	223;212	Q96JC1;Q96JC1-2	VPS39_HUMAN;.	Y	212;223	ENSP00000326534:D212Y;ENSP00000335193:D223Y	ENSP00000326534:D212Y	D	-	1	0	VPS39	40264091	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.687000	0.91594	0.655000	0.94253	GAT		0.532	VPS39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000420472.1	NM_015289		45	200	1	0	2.68985e-26	1	4.06373e-26	45	200				
FAT3	120114	broad.mit.edu	37	11	92086468	92086468	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:92086468T>C	ENST00000298047.6	+	1	1207	c.1190T>C	c.(1189-1191)aTa>aCa	p.I397T	FAT3_ENST00000409404.2_Missense_Mutation_p.I397T|FAT3_ENST00000541502.1_Missense_Mutation_p.I397T|FAT3_ENST00000525166.1_Missense_Mutation_p.I247T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	397	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTGGTTGCTATAGTAAAATTA	0.413										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(1189-1191)aTa>aCa		FAT atypical cadherin 3							84.0	80.0	81.0					11																	92086468		1889	4100	5989	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92086468T>C	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.1190T>C	11.37:g.92086468T>C	ENSP00000298047:p.Ile397Thr	TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Missense_Mutation_p.I247T|FAT3_ENST00000541502.1_Missense_Mutation_p.I397T|FAT3_ENST00000409404.2_Missense_Mutation_p.I397T	p.I397T			Q8TDW7	FAT3_HUMAN			1	1207	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	397			Cadherin 4.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.1190T>C		.	.	.	.	.	.	.	.	.	.	T	5.864	0.343665	0.11126	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.59083	0.29;0.29;0.29;0.29	5.84	5.84	0.93424	.	.	.	.	.	T	0.28167	0.0695	N	0.01096	-1.015	0.09310	N	0.999999	B	0.31625	0.332	B	0.26969	0.075	T	0.09862	-1.0655	9	0.17832	T	0.49	.	15.4114	0.74923	0.0:0.0:0.0:1.0	.	397	Q8TDW7-3	.	T	397;397;397;247	ENSP00000298047:I397T;ENSP00000387040:I397T;ENSP00000443786:I397T;ENSP00000432586:I247T	ENSP00000298047:I397T	I	+	2	0	FAT3	91726116	0.474000	0.25886	0.146000	0.22360	0.244000	0.25665	3.061000	0.49963	2.228000	0.72767	0.533000	0.62120	ATA		0.413	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		7	36	0	0	0	1	0	7	36				
DLG5	9231	broad.mit.edu	37	10	79569399	79569399	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:79569399C>G	ENST00000372391.2	-	24	4558	c.4553G>C	c.(4552-4554)gGt>gCt	p.G1518A	DLG5_ENST00000372388.2_Missense_Mutation_p.G1178A|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1518	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CAGGTTCCCACCACACAAGTG	0.582																																						ENST00000372391.2																			0				breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(4552-4554)gGt>gCt		discs, large homolog 5 (Drosophila)							192.0	188.0	190.0					10																	79569399		2203	4300	6503	SO:0001583	missense	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79569399C>G	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.4553G>C	10.37:g.79569399C>G	ENSP00000361467:p.Gly1518Ala					DLG5_ENST00000372388.2_Missense_Mutation_p.G1178A|DLG5_ENST00000459739.1_5'UTR	p.G1518A	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		24	4558	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		1518			PDZ 4.		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	c.4553G>C	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	C	32	5.169621	0.94768	.	.	ENSG00000151208	ENST00000372391;ENST00000424842;ENST00000372388	T;T;T	0.54675	0.56;0.56;0.56	5.85	5.85	0.93711	PDZ/DHR/GLGF (4);	0.000000	0.39544	N	0.001328	T	0.79452	0.4448	M	0.89715	3.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.82508	-0.0422	10	0.72032	D	0.01	.	19.7666	0.96346	0.0:1.0:0.0:0.0	.	1518;1178	Q8TDM6;Q8TDM6-2	DLG5_HUMAN;.	A	1518;479;1178	ENSP00000361467:G1518A;ENSP00000394797:G479A;ENSP00000361464:G1178A	ENSP00000361464:G1178A	G	-	2	0	DLG5	79239405	1.000000	0.71417	0.962000	0.40283	0.976000	0.68499	7.365000	0.79537	2.772000	0.95346	0.655000	0.94253	GGT		0.582	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			46	232	0	0	0	1	0	46	232				
AMOT	154796	broad.mit.edu	37	X	112022393	112022393	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chrX:112022393C>G	ENST00000524145.1	-	11	3063	c.2989G>C	c.(2989-2991)Gct>Cct	p.A997P	MIR4329_ENST00000582643.1_RNA|AMOT_ENST00000371959.3_Missense_Mutation_p.A997P|AMOT_ENST00000371962.1_Missense_Mutation_p.A765P|AMOT_ENST00000304758.1_Missense_Mutation_p.A588P			Q4VCS5	AMOT_HUMAN	angiomotin	997					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TGAGCAGGAGCAGAAGCCTGA	0.622																																						ENST00000371959.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2989-2991)Gct>Cct		angiomotin							39.0	36.0	37.0					X																	112022393		2203	4300	6503	SO:0001583	missense	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112022393C>G	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.2989G>C	X.37:g.112022393C>G	ENSP00000429013:p.Ala997Pro					AMOT_ENST00000304758.1_Missense_Mutation_p.A588P|AMOT_ENST00000524145.1_Missense_Mutation_p.A997P|AMOT_ENST00000371962.1_Missense_Mutation_p.A765P	p.A997P	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN			10	2988	-			997					Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	ENST00000524145.1	37	c.2989G>C	CCDS48154.1	.	.	.	.	.	.	.	.	.	.	C	9.397	1.077076	0.20227	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145	T;T;T;T	0.22336	1.96;1.97;2.22;1.97	4.81	2.87	0.33458	.	0.123452	0.37437	N	0.002081	T	0.15652	0.0377	L	0.36672	1.1	0.26940	N	0.966273	P	0.49961	0.93	P	0.44860	0.462	T	0.07121	-1.0789	10	0.33940	T	0.23	-0.1472	5.0879	0.14693	0.0:0.6744:0.2087:0.1169	.	997	Q4VCS5	AMOT_HUMAN	P	588;997;765;997	ENSP00000305557:A588P;ENSP00000361027:A997P;ENSP00000361030:A765P;ENSP00000429013:A997P	ENSP00000305557:A588P	A	-	1	0	AMOT	111909049	0.000000	0.05858	0.996000	0.52242	0.079000	0.17450	0.330000	0.19715	1.099000	0.41499	0.600000	0.82982	GCT		0.622	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		21	30	0	0	0	1	0	21	30				
OR5K4	403278	broad.mit.edu	37	3	98072825	98072825	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:98072825T>A	ENST00000354924.2	+	1	128	c.128T>A	c.(127-129)cTt>cAt	p.L43H	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	43						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						GTGGGGAATCTTGGTCTGGTG	0.463																																						ENST00000354924.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						c.(127-129)cTt>cAt		olfactory receptor, family 5, subfamily K, member 4							256.0	248.0	251.0					3																	98072825		2203	4300	6503	SO:0001583	missense	403278				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98072825T>A		CCDS33802.1	3q11.2	2013-09-23			ENSG00000196098	ENSG00000196098		"""GPCR / Class A : Olfactory receptors"""	31291	protein-coding gene	gene with protein product							Standard	NM_001005517		Approved		uc011bgv.2	A6NMS3	OTTHUMG00000160081	ENST00000354924.2:c.128T>A	3.37:g.98072825T>A	ENSP00000347003:p.Leu43His					RP11-325B23.2_ENST00000508616.1_lincRNA	p.L43H	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN			1	128	+			43						Missense_Mutation	SNP	ENST00000354924.2	37	c.128T>A	CCDS33802.1	.	.	.	.	.	.	.	.	.	.	T	18.37	3.608593	0.66558	.	.	ENSG00000196098	ENST00000354924	T	0.00438	7.42	4.77	4.77	0.60923	GPCR, rhodopsin-like superfamily (1);	0.000000	0.29791	U	0.011192	T	0.01523	0.0049	M	0.92784	3.345	0.37819	D	0.928305	D	0.76494	0.999	D	0.67231	0.95	T	0.42241	-0.9463	10	0.87932	D	0	-39.7898	12.5441	0.56188	0.0:0.0:0.0:1.0	.	43	A6NMS3	OR5K4_HUMAN	H	43	ENSP00000347003:L43H	ENSP00000347003:L43H	L	+	2	0	OR5K4	99555515	0.057000	0.20700	0.979000	0.43373	0.698000	0.40448	2.638000	0.46562	2.115000	0.64714	0.491000	0.48974	CTT		0.463	OR5K4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359114.1			78	341	0	0	0	1	0	78	341				
RALGAPB	57148	broad.mit.edu	37	20	37191329	37191329	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr20:37191329G>A	ENST00000262879.6	+	24	3970	c.3686G>A	c.(3685-3687)gGa>gAa	p.G1229E	RALGAPB_ENST00000397042.3_Missense_Mutation_p.G1225E|RALGAPB_ENST00000397038.1_Missense_Mutation_p.G1007E|RALGAPB_ENST00000397040.1_Missense_Mutation_p.G1229E			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1229	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GATGGTGAAGGATCTCAACAA	0.403																																						ENST00000262879.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(3685-3687)gGa>gAa		Ral GTPase activating protein, beta subunit (non-catalytic)							168.0	148.0	155.0					20																	37191329		2203	4300	6503	SO:0001583	missense	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37191329G>A	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.3686G>A	20.37:g.37191329G>A	ENSP00000262879:p.Gly1229Glu					RALGAPB_ENST00000397038.1_Missense_Mutation_p.G1007E|RALGAPB_ENST00000397040.1_Missense_Mutation_p.G1229E|RALGAPB_ENST00000397042.3_Missense_Mutation_p.G1225E	p.G1229E			Q86X10	RLGPB_HUMAN			24	3970	+			1229			Rap-GAP.		A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	c.3686G>A	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	G	7.346	0.621830	0.14193	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000397038;ENST00000397040;ENST00000438490	.	.	.	5.8	3.66	0.41972	Rap/ran-GAP (1);	0.482600	0.24472	N	0.038229	T	0.29716	0.0742	N	0.19112	0.55	0.39345	D	0.965658	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.10405	-1.0631	9	0.06757	T	0.87	.	7.5825	0.27974	0.0698:0.1205:0.6814:0.1284	.	1225;1229	A2A2E9;Q86X10	.;RLGPB_HUMAN	E	1229;1225;1007;1229;1057	.	ENSP00000262879:G1229E	G	+	2	0	RALGAPB	36624743	1.000000	0.71417	0.998000	0.56505	0.887000	0.51463	3.483000	0.53194	1.454000	0.47793	0.563000	0.77884	GGA		0.403	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		25	115	0	0	0	1	0	25	115				
IGKV1D-43	28891	broad.mit.edu	37	2	90249126	90249126	+	RNA	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:90249126C>A	ENST00000468879.1	+	0	263									immunoglobulin kappa variable 1D-43																		CCGGATGACCCAGTCTCCATT	0.463																																						ENST00000468879.1																			0																				139.0	141.0	141.0					2																	90249126		1927	4135	6062			28891							g.chr2:90249126C>A	X72817		2p11.2	2012-10-03			ENSG00000242580	ENSG00000242580		"""Immunoglobulins / IGK locus"""	5758	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151572		2.37:g.90249126C>A														0	263	+									RNA	SNP	ENST00000468879.1	37																																																																																						0.463	IGKV1D-43-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323147.2	NG_000833		49	192	1	0	1.35964e-18	1	1.94019e-18	49	192				
SSUH2	51066	broad.mit.edu	37	3	8667970	8667970	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:8667970C>T	ENST00000317371.4	-	16	1871	c.646G>A	c.(646-648)Gcc>Acc	p.A216T	SSUH2_ENST00000415132.1_Missense_Mutation_p.A216T|SSUH2_ENST00000341795.3_Missense_Mutation_p.A216T|SSUH2_ENST00000544814.1_Missense_Mutation_p.A238T			Q9Y2M2	SSUH2_HUMAN	ssu-2 homolog (C. elegans)	216	Cys-rich.					cytoplasm (GO:0005737)											TTGCAGGTGGCGCAGGTCTTG	0.572																																						ENST00000317371.4																			0											c.(646-648)Gcc>Acc		ssu-2 homolog (C. elegans)							225.0	183.0	197.0					3																	8667970		2203	4300	6503	SO:0001583	missense	51066							g.chr3:8667970C>T	AB024705	CCDS2568.1, CCDS58815.1	3p25.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000125046	ENSG00000125046			24809	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 32"""	C3orf32		20205943	Standard	NM_001256748		Approved	fls485, ssu-2	uc011atg.3	Q9Y2M2	OTTHUMG00000122075	ENST00000317371.4:c.646G>A	3.37:g.8667970C>T	ENSP00000324551:p.Ala216Thr					SSUH2_ENST00000415132.1_Missense_Mutation_p.A216T|SSUH2_ENST00000341795.3_Missense_Mutation_p.A216T|SSUH2_ENST00000544814.1_Missense_Mutation_p.A238T	p.A216T							16	1871	-								A6NFA9|B3KS84|B7Z6E3|F5H2S5|Q7Z7K4	Missense_Mutation	SNP	ENST00000317371.4	37	c.646G>A	CCDS2568.1	.	.	.	.	.	.	.	.	.	.	C	8.846	0.943314	0.18281	.	.	ENSG00000125046	ENST00000341795;ENST00000317371;ENST00000415132;ENST00000544814	T;T;T;T	0.43294	0.98;0.98;0.95;0.99	4.91	3.12	0.35913	.	0.584960	0.18356	N	0.143702	T	0.35595	0.0937	M	0.65975	2.015	0.31562	N	0.657391	B;B	0.27971	0.196;0.196	B;B	0.26517	0.07;0.07	T	0.36138	-0.9760	10	0.14252	T	0.57	-24.3147	7.659	0.28392	0.0:0.803:0.0:0.197	.	238;216	F5H2S5;Q9Y2M2	.;CC032_HUMAN	T	216;216;216;238	ENSP00000339150:A216T;ENSP00000324551:A216T;ENSP00000410757:A216T;ENSP00000439378:A238T	ENSP00000324551:A216T	A	-	1	0	C3orf32	8642970	0.831000	0.29352	0.986000	0.45419	0.629000	0.37895	0.447000	0.21710	0.494000	0.27859	-0.216000	0.12614	GCC		0.572	SSUH2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337900.1	NM_015931		53	87	0	0	0	1	0	53	87				
DEPTOR	64798	broad.mit.edu	37	8	120977482	120977482	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:120977482C>T	ENST00000286234.5	+	4	566	c.436C>T	c.(436-438)Cct>Tct	p.P146S	DEPTOR_ENST00000523492.1_Missense_Mutation_p.P45S	NM_022783.2	NP_073620.2	Q8TB45	DPTOR_HUMAN	DEP domain containing MTOR-interacting protein	146	DEP 2. {ECO:0000255|PROSITE- ProRule:PRU00066}.				intracellular signal transduction (GO:0035556)|negative regulation of cell size (GO:0045792)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of TOR signaling (GO:0032007)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)	intracellular (GO:0005622)				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						GCTGATGAGCCCTGAAAACAC	0.463																																						ENST00000286234.5																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						c.(436-438)Cct>Tct		DEP domain containing MTOR-interacting protein							84.0	77.0	80.0					8																	120977482		2203	4300	6503	SO:0001583	missense	64798				intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding	g.chr8:120977482C>T		CCDS6331.1, CCDS64960.1	8q24.12	2011-12-13	2010-12-08	2010-12-08	ENSG00000155792	ENSG00000155792			22953	protein-coding gene	gene with protein product		612974	"""DEP domain containing 6"""	DEPDC6		19446321	Standard	NM_022783		Approved	DEP.6, FLJ12428	uc003yow.4	Q8TB45	OTTHUMG00000165052	ENST00000286234.5:c.436C>T	8.37:g.120977482C>T	ENSP00000286234:p.Pro146Ser					DEPTOR_ENST00000523492.1_Missense_Mutation_p.P45S	p.P146S	NM_022783.2	NP_073620.2	Q8TB45	DPTOR_HUMAN			4	566	+			146			DEP 2.		B2RCL9|B4DN97|E7EV87|Q96EQ1|Q9H0R7|Q9H894|Q9HA07	Missense_Mutation	SNP	ENST00000286234.5	37	c.436C>T	CCDS6331.1	.	.	.	.	.	.	.	.	.	.	C	8.216	0.801347	0.16397	.	.	ENSG00000155792	ENST00000523492;ENST00000286234	T;T	0.12465	2.68;2.68	5.17	4.17	0.49024	DEP domain (2);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.157314	0.56097	D	0.000024	T	0.02649	0.0080	N	0.00621	-1.32	0.37393	D	0.912536	B;B	0.11235	0.004;0.001	B;B	0.08055	0.003;0.001	T	0.40175	-0.9577	10	0.09338	T	0.73	-15.3995	1.9347	0.03334	0.3049:0.4409:0.0:0.2543	.	45;146	E7EV87;Q8TB45	.;DPTOR_HUMAN	S	45;146	ENSP00000430457:P45S;ENSP00000286234:P146S	ENSP00000286234:P146S	P	+	1	0	DEPTOR	121046663	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.917000	0.48821	2.417000	0.82017	0.561000	0.74099	CCT		0.463	DEPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381601.1	NM_022783		16	92	0	0	0	1	0	16	92				
CLASP1	23332	broad.mit.edu	37	2	122125290	122125290	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:122125290G>A	ENST00000263710.4	-	35	4149	c.3760C>T	c.(3760-3762)Cgc>Tgc	p.R1254C	CLASP1_ENST00000541377.1_Missense_Mutation_p.R1193C|CLASP1_ENST00000541859.1_Missense_Mutation_p.R971C|CLASP1_ENST00000455322.2_Missense_Mutation_p.R1210C|CLASP1_ENST00000397587.3_Missense_Mutation_p.R1194C|CLASP1_ENST00000409078.3_Missense_Mutation_p.R1187C|CLASP1_ENST00000545861.1_Missense_Mutation_p.R961C	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1254	Interaction with CLIP2. {ECO:0000250}.|Interaction with PHLDB2 and RSN.				axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					GGGAAGGCGCGCGGAGGCTGG	0.632																																						ENST00000263710.4																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47						c.(3760-3762)Cgc>Tgc		cytoplasmic linker associated protein 1							106.0	110.0	108.0					2																	122125290		1988	4145	6133	SO:0001583	missense	23332				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	g.chr2:122125290G>A	AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.3760C>T	2.37:g.122125290G>A	ENSP00000263710:p.Arg1254Cys					CLASP1_ENST00000455322.2_Missense_Mutation_p.R1210C|CLASP1_ENST00000541377.1_Missense_Mutation_p.R1193C|CLASP1_ENST00000397587.3_Missense_Mutation_p.R1194C|CLASP1_ENST00000541859.1_Missense_Mutation_p.R971C|CLASP1_ENST00000545861.1_Missense_Mutation_p.R961C|CLASP1_ENST00000409078.3_Missense_Mutation_p.R1187C	p.R1254C	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN			35	4149	-	Renal(3;0.0496)		1254			Interaction with CLIP2 (By similarity).|Interaction with PHLDB2 and RSN.		B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	ENST00000263710.4	37	c.3760C>T		.	.	.	.	.	.	.	.	.	.	G	15.33	2.800420	0.50315	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861	T;T;T;T;T;T	0.48836	2.1;2.11;2.11;2.11;0.8;2.11	5.47	2.55	0.30701	Armadillo-type fold (1);	0.200863	0.53938	D	0.000057	T	0.63850	0.2546	M	0.65975	2.015	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.988;0.998;0.995;0.994	T	0.63550	-0.6612	10	0.62326	D	0.03	-11.3541	11.6876	0.51497	0.0:0.1194:0.653:0.2276	.	1187;1194;1195;1254	E7EUA5;F5GWS0;A2RU21;Q7Z460	.;.;.;CLAP1_HUMAN	C	1254;1210;1194;1193;971;1187;961	ENSP00000263710:R1254C;ENSP00000389372:R1210C;ENSP00000380717:R1194C;ENSP00000441625:R1193C;ENSP00000441770:R971C;ENSP00000386442:R1187C	ENSP00000263710:R1254C	R	-	1	0	CLASP1	121841760	1.000000	0.71417	0.001000	0.08648	0.144000	0.21451	5.721000	0.68477	0.314000	0.23086	-0.282000	0.10007	CGC		0.632	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282		33	88	0	0	0	1	0	33	88				
SPAG11B	10407	broad.mit.edu	37	8	7308682	7308682	+	Missense_Mutation	SNP	C	C	A	rs61749561	byFrequency	TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:7308682C>A	ENST00000297498.2	-	3	420	c.254G>T	c.(253-255)aGg>aTg	p.R85M	SPAG11B_ENST00000458665.1_Intron|SPAG11B_ENST00000359758.5_Intron|SPAG11B_ENST00000528168.1_Missense_Mutation_p.R32M|SPAG11B_ENST00000361111.2_Intron|SPAG11B_ENST00000398462.2_Intron	NM_016512.3	NP_057596.1	Q08648	SG11B_HUMAN	sperm associated antigen 11B	85					spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				large_intestine(2)|lung(3)|urinary_tract(1)	6				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		CACACAGATCCTAAATGAGGG	0.463																																						ENST00000297498.2																			0				large_intestine(2)|lung(3)|urinary_tract(1)	6						c.(253-255)aGg>aTg		sperm associated antigen 11B							83.0	98.0	93.0					8																	7308682		2066	4190	6256	SO:0001583	missense	10407				spermatogenesis	extracellular region		g.chr8:7308682C>A	AF168616	CCDS5964.1, CCDS5965.1, CCDS5966.1, CCDS5967.1, CCDS47774.1	8p23.1	2014-02-21	2007-03-15	2007-03-15	ENSG00000164871	ENSG00000164871			14534	protein-coding gene	gene with protein product	"""epididymal protein 2B"""	606560				8167223, 1693137	Standard	NM_058200		Approved	HE2, EP2, EP2C, EP2D, EDDM2B	uc003wrl.3	Q08648	OTTHUMG00000129219	ENST00000297498.2:c.254G>T	8.37:g.7308682C>A	ENSP00000297498:p.Arg85Met					SPAG11B_ENST00000458665.1_Intron|SPAG11B_ENST00000361111.2_Intron|SPAG11B_ENST00000528168.1_Missense_Mutation_p.R32M|SPAG11B_ENST00000398462.2_Intron|SPAG11B_ENST00000359758.5_Intron	p.R85M	NM_016512.3	NP_057596.1	Q08648	SG11B_HUMAN		COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)	3	420	-			85					E9PFH0|Q546A0|Q6ZYB2|Q9H4P8|Q9H4P9|Q9H4Q0|Q9H4Q1|Q9H4Q2|Q9NRT3|Q9NRV4|Q9NRV5|Q9NRV6|Q9NRV7|Q9NRV8	Missense_Mutation	SNP	ENST00000297498.2	37	c.254G>T	CCDS5966.1	.	.	.	.	.	.	.	.	.	.	T	6.967	0.548376	0.13312	.	.	ENSG00000164871	ENST00000297498;ENST00000528168	T;T	0.39406	1.31;1.08	1.64	0.354	0.16063	.	.	.	.	.	T	0.18964	0.0455	N	0.08118	0	0.09310	N	1	B;B	0.19706	0.023;0.038	B;B	0.06405	0.001;0.002	T	0.17289	-1.0374	9	0.62326	D	0.03	.	2.4253	0.04458	0.0:0.1926:0.297:0.5104	.	85;32	Q08648;Q08648-2	SG11B_HUMAN;.	M	85;32	ENSP00000297498:R85M;ENSP00000431230:R32M	ENSP00000297498:R85M	R	-	2	0	SPAG11B	7296092	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.420000	0.21263	-0.283000	0.09115	-0.566000	0.04163	AGG		0.463	SPAG11B-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251390.2	NM_058202, NM_058200, NM_058201, NM_016512, NM_058203, NM_058206, NM_058207		14	65	1	0	0.132662	1	0.133701	14	65				
SPATA31E1	286234	broad.mit.edu	37	9	90501441	90501441	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:90501441C>A	ENST00000325643.5	+	4	2105	c.2039C>A	c.(2038-2040)cCt>cAt	p.P680H		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	680					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CCCTCCCAGCCTTCTGACTTT	0.602																																						ENST00000325643.5																			0											c.(2038-2040)cCt>cAt		SPATA31 subfamily E, member 1							45.0	58.0	54.0					9																	90501441		2203	4299	6502	SO:0001583	missense	286234							g.chr9:90501441C>A	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.2039C>A	9.37:g.90501441C>A	ENSP00000322640:p.Pro680His						p.P680H	NM_178828.4	NP_849150.3					4	2105	+								B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	c.2039C>A	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	c	11.90	1.777887	0.31502	.	.	ENSG00000177992	ENST00000325643;ENST00000539327	T	0.07567	3.18	2.43	1.43	0.22495	.	0.820101	0.10299	N	0.691364	T	0.12390	0.0301	L	0.36672	1.1	0.09310	N	1	D;D	0.69078	0.997;0.969	P;P	0.58873	0.847;0.54	T	0.28073	-1.0055	10	0.32370	T	0.25	.	4.4322	0.11533	0.0:0.7781:0.0:0.2219	.	680;332	Q6ZUB1;Q8NA33	CI079_HUMAN;.	H	680;332	ENSP00000322640:P680H	ENSP00000322640:P680H	P	+	2	0	C9orf79	89691261	0.000000	0.05858	0.010000	0.14722	0.018000	0.09664	-0.635000	0.05471	0.496000	0.27904	0.557000	0.71058	CCT		0.602	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		48	119	1	0	4.18559e-23	1	6.22596e-23	48	119				
AKAP13	11214	broad.mit.edu	37	15	86259038	86259038	+	Silent	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr15:86259038T>C	ENST00000394518.2	+	20	5714	c.5619T>C	c.(5617-5619)cgT>cgC	p.R1873R	AKAP13_ENST00000394510.2_Silent_p.R118R|AKAP13_ENST00000361243.2_Silent_p.R1877R|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1873					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						CCAAGGAGCGTCCTCGGTCCG	0.532																																					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.(5617-5619)cgT>cgC		A kinase (PRKA) anchor protein 13							142.0	107.0	119.0					15																	86259038		2202	4299	6501	SO:0001819	synonymous_variant	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.chr15:86259038T>C	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.5619T>C	15.37:g.86259038T>C						AKAP13_ENST00000394510.2_Silent_p.R118R|AKAP13_ENST00000361243.2_Silent_p.R1877R|AKAP13_ENST00000560579.1_3'UTR	p.R1873R	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			20	5714	+			1873					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	ENST00000394518.2	37	c.5619T>C	CCDS32319.1																																																																																				0.532	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		18	79	0	0	0	1	0	18	79				
RNF121	55298	broad.mit.edu	37	11	71698079	71698079	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:71698079A>G	ENST00000361756.3	+	5	789	c.428A>G	c.(427-429)tAt>tGt	p.Y143C	RNF121_ENST00000545854.1_Missense_Mutation_p.Y62C|RNF121_ENST00000533380.1_Intron|RNF121_ENST00000393713.3_Missense_Mutation_p.Y111C|RNF121_ENST00000530137.1_Missense_Mutation_p.Y111C|RNF121_ENST00000490867.1_3'UTR	NM_018320.4	NP_060790.2	Q9H920	RN121_HUMAN	ring finger protein 121	143						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						CTGCTAATCTATAAAATCAGC	0.418																																						ENST00000361756.3																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						c.(427-429)tAt>tGt		ring finger protein 121							210.0	180.0	190.0					11																	71698079		2200	4293	6493	SO:0001583	missense	55298					integral to membrane	zinc ion binding	g.chr11:71698079A>G	AK001961	CCDS8203.1, CCDS73343.1	11q13.3	2008-02-05			ENSG00000137522	ENSG00000137522		"""RING-type (C3HC4) zinc fingers"""	21070	protein-coding gene	gene with protein product							Standard	NM_018320		Approved	FLJ11099	uc001ora.3	Q9H920	OTTHUMG00000157023	ENST00000361756.3:c.428A>G	11.37:g.71698079A>G	ENSP00000354571:p.Tyr143Cys					RNF121_ENST00000490867.1_3'UTR|RNF121_ENST00000530137.1_Missense_Mutation_p.Y111C|RNF121_ENST00000533380.1_Intron|RNF121_ENST00000545854.1_Missense_Mutation_p.Y62C|RNF121_ENST00000393713.3_Missense_Mutation_p.Y111C	p.Y143C	NM_018320.4	NP_060790.2	Q9H920	RN121_HUMAN			5	789	+			143					B3KSW8|Q6IA57|Q6P449|Q96DB4	Missense_Mutation	SNP	ENST00000361756.3	37	c.428A>G	CCDS8203.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.442221	0.83993	.	.	ENSG00000137522	ENST00000361756;ENST00000393713;ENST00000545854;ENST00000530137	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.91061	0.7187	M	0.83118	2.625	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.991;0.971;0.944	D	0.92369	0.5904	10	0.87932	D	0	-4.8528	13.9617	0.64185	1.0:0.0:0.0:0.0	.	111;111;143	C9JQY5;G3V148;Q9H920	.;.;RN121_HUMAN	C	143;111;62;111	ENSP00000354571:Y143C;ENSP00000377316:Y111C;ENSP00000443799:Y62C;ENSP00000431286:Y111C	ENSP00000354571:Y143C	Y	+	2	0	RNF121	71375727	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.522000	0.90573	2.130000	0.65690	0.477000	0.44152	TAT		0.418	RNF121-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347132.1	NM_018320		21	91	0	0	0	1	0	21	91				
LCT	3938	broad.mit.edu	37	2	136567555	136567555	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:136567555C>A	ENST00000264162.2	-	8	2372	c.2362G>T	c.(2362-2364)Gaa>Taa	p.E788*	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	788	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	ACAGAGTCTTCCTTGATAGCT	0.428																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(2362-2364)Gaa>Taa		lactase							34.0	36.0	35.0					2																	136567555		2203	4300	6503	SO:0001587	stop_gained	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136567555C>A	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.2362G>T	2.37:g.136567555C>A	ENSP00000264162:p.Glu788*						p.E788*	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	8	2372	-			788			4 X approximate repeats.		Q4ZG58	Nonsense_Mutation	SNP	ENST00000264162.2	37	c.2362G>T	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	6.622	0.483268	0.12581	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	.	.	.	5.47	0.264	0.15607	.	0.557287	0.17576	N	0.169306	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-25.2963	2.3812	0.04355	0.109:0.3013:0.3553:0.2344	.	.	.	.	X	788;220	.	ENSP00000264162:E788X	E	-	1	0	LCT	136284025	0.002000	0.14202	0.982000	0.44146	0.007000	0.05969	-0.123000	0.10611	0.372000	0.24591	-1.038000	0.02383	GAA		0.428	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		18	55	1	0	3.52763e-06	1	3.97567e-06	18	55				
COBL	23242	broad.mit.edu	37	7	51097257	51097257	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:51097257G>T	ENST00000265136.7	-	10	1701	c.1536C>A	c.(1534-1536)agC>agA	p.S512R	COBL_ENST00000395542.2_Missense_Mutation_p.S594R	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	512					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TGGTGAGGGAGCTGGTGTCTG	0.498																																					NSCLC(189;2119 2138 12223 30818 34679)	ENST00000395542.2																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(1780-1782)agC>agA		cordon-bleu WH2 repeat protein							117.0	112.0	114.0					7																	51097257		2203	4300	6503	SO:0001583	missense	23242							g.chr7:51097257G>T	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.1536C>A	7.37:g.51097257G>T	ENSP00000265136:p.Ser512Arg					COBL_ENST00000265136.7_Missense_Mutation_p.S512R	p.S594R			O75128	COBL_HUMAN			12	1966	-	Glioma(55;0.08)		512					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	c.1782C>A	CCDS34637.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.27|10.27	1.303955|1.303955	0.23736|0.23736	.|.	.|.	ENSG00000106078|ENSG00000106078	ENST00000452534|ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542;ENST00000457306	.|T;T;T;T	.|0.26810	.|1.71;1.71;1.71;1.71	5.58|5.58	3.78|3.78	0.43462|0.43462	.|.	.|0.770342	.|0.11497	.|N	.|0.558152	T|T	0.30417|0.30417	0.0764|0.0764	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	.|D;D;P;D;D	.|0.71674	.|0.986;0.97;0.704;0.985;0.998	.|P;P;B;P;D	.|0.69142	.|0.867;0.775;0.302;0.62;0.962	T|T	0.14227|0.14227	-1.0480|-1.0480	5|10	.|0.26408	.|T	.|0.33	.|.	7.4518|7.4518	0.27242|0.27242	0.2617:0.0:0.7383:0.0|0.2617:0.0:0.7383:0.0	.|.	.|512;569;512;594;54	.|O75128-3;O75128-7;O75128;O75128-2;O75128-6	.|.;.;COBL_HUMAN;.;.	I|R	488|512;404;397;594;10	.|ENSP00000265136:S512R;ENSP00000401204:S404R;ENSP00000413498:S397R;ENSP00000378912:S594R	.|ENSP00000265136:S512R	L|S	-|-	1|3	0|2	COBL|COBL	51064751|51064751	0.011000|0.011000	0.17503|0.17503	0.012000|0.012000	0.15200|0.15200	0.110000|0.110000	0.19582|0.19582	0.244000|0.244000	0.18124|0.18124	0.713000|0.713000	0.32060|0.32060	0.655000|0.655000	0.94253|0.94253	CTC|AGC		0.498	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		18	72	1	0	4.96729e-08	1	5.84565e-08	18	72				
CCNA1	8900	broad.mit.edu	37	13	37011780	37011780	+	Silent	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr13:37011780C>A	ENST00000255465.4	+	3	576	c.312C>A	c.(310-312)atC>atA	p.I104I	CCNA1_ENST00000463403.1_3'UTR|CCNA1_ENST00000418263.1_Silent_p.I103I|CCNA1_ENST00000440264.1_Silent_p.I60I|CCNA1_ENST00000449823.1_Silent_p.I60I			P78396	CCNA1_HUMAN	cyclin A1	104					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TCACAAGAATCAGGTGTTATT	0.478																																						ENST00000418263.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35						c.(307-309)atC>atA		cyclin A1							110.0	121.0	117.0					13																	37011780		2203	4300	6503	SO:0001819	synonymous_variant	8900				cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding	g.chr13:37011780C>A	U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.312C>A	13.37:g.37011780C>A						CCNA1_ENST00000449823.1_Silent_p.I60I|CCNA1_ENST00000255465.4_Silent_p.I104I|CCNA1_ENST00000463403.1_3'UTR|CCNA1_ENST00000440264.1_Silent_p.I60I	p.I103I	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)	3	659	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	104					B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Silent	SNP	ENST00000255465.4	37	c.309C>A	CCDS9357.1																																																																																				0.478	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914		29	104	1	0	2.65835e-16	1	3.65168e-16	29	104				
KIF21B	23046	broad.mit.edu	37	1	200971389	200971389	+	Silent	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:200971389C>T	ENST00000422435.2	-	9	1618	c.1302G>A	c.(1300-1302)ctG>ctA	p.L434L	KIF21B_ENST00000461742.2_Silent_p.L434L|KIF21B_ENST00000360529.5_Silent_p.L434L|KIF21B_ENST00000332129.2_Silent_p.L434L	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	434					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CCCGCAGCCGCAGGGCCCCAT	0.607																																						ENST00000332129.2																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						c.(1300-1302)ctG>ctA		kinesin family member 21B							130.0	114.0	120.0					1																	200971389		2203	4300	6503	SO:0001819	synonymous_variant	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200971389C>T	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.1302G>A	1.37:g.200971389C>T						KIF21B_ENST00000360529.5_Silent_p.L434L|KIF21B_ENST00000422435.2_Silent_p.L434L|KIF21B_ENST00000461742.2_Silent_p.L434L	p.L434L	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN			9	1618	-			434					B2RP62|B7ZMI0|Q5T4J3	Silent	SNP	ENST00000422435.2	37	c.1302G>A	CCDS58056.1																																																																																				0.607	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		26	117	0	0	0	1	0	26	117				
GPR179	440435	broad.mit.edu	37	17	36489266	36489266	+	Silent	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:36489266C>T	ENST00000342292.4	-	10	1925	c.1905G>A	c.(1903-1905)ggG>ggA	p.G635G		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	635					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GGGGAGGAGCCCCCAGCTTCC	0.622																																						ENST00000342292.4																			0				breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(1903-1905)ggG>ggA		G protein-coupled receptor 179							35.0	42.0	40.0					17																	36489266		2078	4216	6294	SO:0001819	synonymous_variant	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36489266C>T		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.1905G>A	17.37:g.36489266C>T							p.G635G	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN			10	1925	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	635						Silent	SNP	ENST00000342292.4	37	c.1905G>A	CCDS42308.1																																																																																				0.622	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			9	43	0	0	0	1	0	9	43				
MSS51	118490	broad.mit.edu	37	10	75187509	75187509	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:75187509C>T	ENST00000372912.1	-	2	241	c.239G>A	c.(238-240)gGt>gAt	p.G80D	MSS51_ENST00000299432.2_Missense_Mutation_p.G80D|AL353731.1_ENST00000584907.1_RNA			Q4VC12	MSS51_HUMAN	MSS51 mitochondrial translational activator	80					social behavior (GO:0035176)		metal ion binding (GO:0046872)										TACGGGGGTACCCCCATCTAC	0.488																																						ENST00000299432.2																			0											c.(238-240)gGt>gAt		MSS51 mitochondrial translational activator							69.0	68.0	68.0					10																	75187509		2203	4300	6503	SO:0001583	missense	118490						zinc ion binding	g.chr10:75187509C>T	AK096884	CCDS31221.1	10q22.3	2013-01-10	2013-01-10	2012-02-24	ENSG00000166343	ENSG00000166343		"""Zinc fingers, MYND-type"""	21000	protein-coding gene	gene with protein product		614773	"""zinc finger, MYND-type containing 17"", ""MSS51 mitochondrial translational activator homolog (S. cerevisiae)"""	ZMYND17		19710419	Standard	NM_001024593		Approved	FLJ39565	uc001jud.3	Q4VC12	OTTHUMG00000018464	ENST00000372912.1:c.239G>A	10.37:g.75187509C>T	ENSP00000362003:p.Gly80Asp					MSS51_ENST00000372912.1_Missense_Mutation_p.G80D	p.G80D	NM_001024593.1	NP_001019764.1	Q4VC12	ZMY17_HUMAN			3	304	-			80					A6NGH6|Q2VP95|Q5F2H5|Q7Z3M9|Q8N8G0	Missense_Mutation	SNP	ENST00000372912.1	37	c.239G>A	CCDS31221.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.131588	0.37630	.	.	ENSG00000166343	ENST00000299432;ENST00000372912	T;T	0.43688	0.94;0.94	5.84	1.96	0.26148	.	0.295402	0.33753	N	0.004592	T	0.32346	0.0826	L	0.47716	1.5	0.32604	N	0.525467	B;B	0.12630	0.003;0.006	B;B	0.11329	0.004;0.006	T	0.30736	-0.9968	10	0.49607	T	0.09	-1.5125	7.414	0.27034	0.0:0.5905:0.0:0.4095	.	80;80	Q4VC12;F6VAV3	ZMY17_HUMAN;.	D	80	ENSP00000299432:G80D;ENSP00000362003:G80D	ENSP00000299432:G80D	G	-	2	0	ZMYND17	74857515	0.982000	0.34865	0.842000	0.33263	0.959000	0.62525	1.355000	0.34068	0.387000	0.25024	0.591000	0.81541	GGT		0.488	MSS51-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048652.3	NM_178451		29	101	0	0	0	1	0	29	101				
CEP57	9702	broad.mit.edu	37	11	95551054	95551054	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:95551054A>C	ENST00000325542.5	+	5	846	c.608A>C	c.(607-609)cAg>cCg	p.Q203P	CEP57_ENST00000325486.5_Missense_Mutation_p.Q203P|CEP57_ENST00000541150.1_Missense_Mutation_p.Q194P|CEP57_ENST00000538658.1_Missense_Mutation_p.Q203P|CEP57_ENST00000537677.1_Missense_Mutation_p.Q176P	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	203	centrosome localization domain (CLD). {ECO:0000250}.				fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|protein homooligomerization (GO:0051260)|protein import into nucleus, translocation (GO:0000060)|spermatid development (GO:0007286)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ACCACAATGCAGGCCCTTGCA	0.343									Mosaic Variegated Aneuploidy Syndrome																													ENST00000325542.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						c.(607-609)cAg>cCg		centrosomal protein 57kDa							127.0	122.0	124.0					11																	95551054		2201	4298	6499	SO:0001583	missense	9702	Mosaic Variegated Aneuploidy Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity	g.chr11:95551054A>C	D42054	CCDS8304.1, CCDS58166.1, CCDS58167.1	11q21	2014-09-17			ENSG00000166037	ENSG00000166037			30794	protein-coding gene	gene with protein product		607951				7788527	Standard	NM_014679		Approved	Translokin, TSP57, KIAA0092	uc001pfp.2	Q86XR8	OTTHUMG00000167740	ENST00000325542.5:c.608A>C	11.37:g.95551054A>C	ENSP00000317902:p.Gln203Pro					CEP57_ENST00000538658.1_Missense_Mutation_p.Q203P|CEP57_ENST00000325486.5_Missense_Mutation_p.Q203P|CEP57_ENST00000541150.1_Missense_Mutation_p.Q194P|CEP57_ENST00000537677.1_Missense_Mutation_p.Q176P	p.Q203P	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN			5	846	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	203			centrosome localization domain (CLD) (By similarity).		A0PJH1|A8K5D0|B4DDP5|F5H5F7|Q14704|Q5JB46|Q8IXP0|Q9BVF9	Missense_Mutation	SNP	ENST00000325542.5	37	c.608A>C	CCDS8304.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.152525	0.78001	.	.	ENSG00000166037	ENST00000537677;ENST00000325542;ENST00000325486;ENST00000544522;ENST00000541365;ENST00000538658;ENST00000541150;ENST00000537093	T;T;T;T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000001	T	0.71913	0.3396	M	0.72118	2.19	0.54753	D	0.999985	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.83275	0.994;0.988;0.996;0.994	T	0.75608	-0.3259	10	0.87932	D	0	0.2099	15.6219	0.76813	1.0:0.0:0.0:0.0	.	194;203;203;203	F5H5F7;Q86XR8-2;Q86XR8;Q86XR8-3	.;.;CEP57_HUMAN;.	P	176;203;203;194;176;203;194;24	ENSP00000441392:Q176P;ENSP00000317902:Q203P;ENSP00000317487:Q203P;ENSP00000438065:Q194P;ENSP00000445821:Q176P;ENSP00000445706:Q203P;ENSP00000443436:Q194P;ENSP00000444749:Q24P	ENSP00000317487:Q203P	Q	+	2	0	CEP57	95190702	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.174000	0.77620	2.085000	0.62840	0.482000	0.46254	CAG		0.343	CEP57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395983.1	NM_014679		42	148	0	0	0	1	0	42	148				
DSCAML1	57453	broad.mit.edu	37	11	117329501	117329501	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:117329501G>C	ENST00000321322.6	-	19	3718	c.3717C>G	c.(3715-3717)agC>agG	p.S1239R	DSCAML1_ENST00000527706.1_Missense_Mutation_p.S969R	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1179	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		AGAGCACACTGCTGCGTACGC	0.667																																						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.(3715-3717)agC>agG		Down syndrome cell adhesion molecule like 1							99.0	79.0	86.0					11																	117329501		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.chr11:117329501G>C		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.3717C>G	11.37:g.117329501G>C	ENSP00000315465:p.Ser1239Arg					DSCAML1_ENST00000527706.1_Missense_Mutation_p.S969R	p.S1239R	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	19	3718	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1179			Fibronectin type-III 4.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.3717C>G	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.908979	0.72868	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.70749	-0.51;-0.51	4.22	4.22	0.49857	Fibronectin, type III (3);Immunoglobulin-like fold (1);	.	.	.	.	D	0.88047	0.6332	H	0.97023	3.925	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90478	0.4458	9	0.87932	D	0	.	10.7682	0.46305	0.0876:0.0:0.9124:0.0	.	1179	Q8TD84	DSCL1_HUMAN	R	969;1239;946	ENSP00000434335:S969R;ENSP00000315465:S1239R	ENSP00000315465:S1239R	S	-	3	2	DSCAML1	116834711	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	6.609000	0.74173	2.373000	0.80994	0.561000	0.74099	AGC		0.667	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		6	56	0	0	0	1	0	6	56				
KDR	3791	broad.mit.edu	37	4	55964424	55964424	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:55964424G>T	ENST00000263923.4	-	17	2684	c.2389C>A	c.(2389-2391)Ctg>Atg	p.L797M		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	797					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|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)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCTGTCTTCAGTTCCCCTCCA	0.458			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												ENST00000263923.4				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"""NSCLC, angiosarcoma"""		0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(2389-2391)Ctg>Atg		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)						100.0	86.0	91.0					4																	55964424		2203	4300	6503	SO:0001583	missense	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55964424G>T	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.2389C>A	4.37:g.55964424G>T	ENSP00000263923:p.Leu797Met	TSP Lung(20;0.16)					p.L797M	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		17	2684	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		797					A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.2389C>A	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.457520	0.26161	.	.	ENSG00000128052	ENST00000263923	T	0.77489	-1.1	5.29	5.29	0.74685	Protein kinase-like domain (1);	0.163796	0.42682	D	0.000667	T	0.73697	0.3620	L	0.59436	1.845	0.40568	D	0.981278	P	0.44281	0.831	B	0.39094	0.29	T	0.75725	-0.3217	10	0.37606	T	0.19	.	15.0555	0.71910	0.0:0.0:0.8492:0.1508	.	797	P35968	VGFR2_HUMAN	M	797	ENSP00000263923:L797M	ENSP00000263923:L797M	L	-	1	2	KDR	55659181	0.998000	0.40836	1.000000	0.80357	0.775000	0.43874	1.566000	0.36396	2.624000	0.88883	0.655000	0.94253	CTG		0.458	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			13	57	1	0	0.00010058	1	0.000108903	13	57				
MAGEC1	9947	broad.mit.edu	37	X	140994339	140994339	+	Silent	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chrX:140994339C>A	ENST00000285879.4	+	4	1435	c.1149C>A	c.(1147-1149)tcC>tcA	p.S383S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	383										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTCTCCTCCACTTTACTGA	0.483										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1147-1149)tcC>tcA		melanoma antigen family C, 1							104.0	111.0	108.0					X																	140994339		2201	4292	6493	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140994339C>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1149C>A	X.37:g.140994339C>A		HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.S383S	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1435	+	Acute lymphoblastic leukemia(192;6.56e-05)		383					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.1149C>A	CCDS35417.1																																																																																				0.483	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		50	112	1	0	4.0306e-16	1	5.50729e-16	50	112				
MYOM2	9172	broad.mit.edu	37	8	2033444	2033444	+	Silent	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:2033444C>A	ENST00000262113.4	+	14	1707	c.1566C>A	c.(1564-1566)atC>atA	p.I522I	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	522	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CTTCCGAGATCAGCAGAAACT	0.592																																						ENST00000262113.4																			0				autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(1564-1566)atC>atA		myomesin 2							80.0	69.0	73.0					8																	2033444		2203	4300	6503	SO:0001819	synonymous_variant	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2033444C>A		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1566C>A	8.37:g.2033444C>A						MYOM2_ENST00000523438.1_Intron	p.I522I	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	14	1707	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	522			Fibronectin type-III 2.		Q7Z3Y2	Silent	SNP	ENST00000262113.4	37	c.1566C>A	CCDS5957.1																																																																																				0.592	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		18	61	1	0	1.99824e-07	1	2.32675e-07	18	61				
CPB2	1361	broad.mit.edu	37	13	46679070	46679070	+	Splice_Site	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr13:46679070C>T	ENST00000181383.4	-	1	91		c.e1+1		CPB2_ENST00000439329.3_Splice_Site|CPB2-AS1_ENST00000415033.2_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)						blood coagulation (GO:0007596)|cellular response to glucose stimulus (GO:0071333)|fibrinolysis (GO:0042730)|liver regeneration (GO:0097421)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of plasminogen activation (GO:0010757)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to heat (GO:0009408)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		TATTGGGTTACCTCTGAAACG	0.468																																						ENST00000181383.4																			0				NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.e1+1		carboxypeptidase B2 (plasma)							116.0	102.0	107.0					13																	46679070		2203	4300	6503	SO:0001630	splice_region_variant	1361				blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr13:46679070C>T	M75106	CCDS9401.1, CCDS73568.1	13q14.11	2012-02-10	2007-02-21		ENSG00000080618	ENSG00000080618			2300	protein-coding gene	gene with protein product	"""thrombin-activatable fibrinolysis inhibitor"", ""carboxypeptidase U"", ""plasma carboxypeptidase B"", ""carboxypeptidase R"""	603101	"""carboxypeptidase B2 (plasma, carboxypeptidase U)"""			1939207, 1427879	Standard	NM_001278541		Approved	CPU, PCPB, TAFI	uc001vaw.3	Q96IY4	OTTHUMG00000016867	ENST00000181383.4:c.74+1G>A	13.37:g.46679070C>T						CPB2_ENST00000439329.3_Splice_Site|CPB2-AS1_ENST00000415033.2_RNA		NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)	1	91	-		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)						A8K464|Q15114|Q5T9K1|Q5T9K2|Q9P2Y6	Splice_Site	SNP	ENST00000181383.4	37		CCDS9401.1	.	.	.	.	.	.	.	.	.	.	C	10.45	1.352585	0.24512	.	.	ENSG00000080618	ENST00000181383;ENST00000439329	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5954	0.76574	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CPB2	45577071	1.000000	0.71417	1.000000	0.80357	0.040000	0.13550	3.549000	0.53681	2.767000	0.95098	0.655000	0.94253	.		0.468	CPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044803.2	NM_001872	Intron	14	30	0	0	0	1	0	14	30				
TMPRSS13	84000	broad.mit.edu	37	11	117780580	117780580	+	Silent	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:117780580G>A	ENST00000430170.2	-	8	1137	c.1050C>T	c.(1048-1050)atC>atT	p.I350I	TMPRSS13_ENST00000524993.1_Silent_p.I350I|TMPRSS13_ENST00000445164.2_Silent_p.I350I|TMPRSS13_ENST00000526090.1_Silent_p.I350I|TMPRSS13_ENST00000528626.1_Silent_p.I315I	NM_001244995.1	NP_001231924.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	350	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					blood microparticle (GO:0072562)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		TGCCTCCACAGATGTGGGTGG	0.632																																						ENST00000528626.1																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20						c.(943-945)atC>atT		transmembrane protease, serine 13							56.0	63.0	61.0					11																	117780580		2133	4256	6389	SO:0001819	synonymous_variant	84000				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr11:117780580G>A	AB048796	CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1	11q23	2010-04-13	2005-03-11	2005-03-12	ENSG00000137747	ENSG00000137747		"""Serine peptidases / Transmembrane"""	29808	protein-coding gene	gene with protein product		610050	"""transmembrane protease, serine 11"""	TMPRSS11		11267681	Standard	NM_001077263		Approved	MSPL	uc001prs.2	Q9BYE2	OTTHUMG00000166992	ENST00000430170.2:c.1050C>T	11.37:g.117780580G>A						TMPRSS13_ENST00000524993.1_Silent_p.I350I|TMPRSS13_ENST00000445164.2_Silent_p.I350I|TMPRSS13_ENST00000430170.2_Silent_p.I350I|TMPRSS13_ENST00000526090.1_Silent_p.I350I	p.I315I	NM_001206789.1	NP_001193718.1	Q9BYE2	TMPSD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)	7	1018	-	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	345			SRCR.		B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	Silent	SNP	ENST00000430170.2	37	c.945C>T	CCDS58185.1																																																																																				0.632	TMPRSS13-006	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000392318.1	NM_032046		11	39	0	0	0	1	0	11	39				
GPR179	440435	broad.mit.edu	37	17	36489267	36489267	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:36489267C>T	ENST00000342292.4	-	10	1924	c.1904G>A	c.(1903-1905)gGg>gAg	p.G635E		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	635					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GGGAGGAGCCCCCAGCTTCCA	0.622																																						ENST00000342292.4																			0				breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(1903-1905)gGg>gAg		G protein-coupled receptor 179							35.0	41.0	39.0					17																	36489267		2073	4215	6288	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36489267C>T		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.1904G>A	17.37:g.36489267C>T	ENSP00000345060:p.Gly635Glu						p.G635E	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN			10	1924	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	635						Missense_Mutation	SNP	ENST00000342292.4	37	c.1904G>A	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692464	0.88735	.	.	ENSG00000188888	ENST00000342292	T	0.53423	0.62	5.22	5.22	0.72569	GPCR, family 3, C-terminal (1);	0.385164	0.25001	N	0.033902	T	0.68007	0.2954	M	0.68952	2.095	0.49687	D	0.999812	D	0.89917	1.0	D	0.91635	0.999	T	0.68269	-0.5453	10	0.54805	T	0.06	-30.3201	17.7169	0.88340	0.0:1.0:0.0:0.0	.	635	Q6PRD1	GP179_HUMAN	E	635	ENSP00000345060:G635E	ENSP00000345060:G635E	G	-	2	0	GPR179	33742793	0.172000	0.23043	1.000000	0.80357	0.937000	0.57800	3.360000	0.52299	2.720000	0.93068	0.655000	0.94253	GGG		0.622	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			9	43	0	0	0	1	0	9	43				
ARGLU1	55082	broad.mit.edu	37	13	107196398	107196398	+	Silent	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr13:107196398C>A	ENST00000400198.3	-	4	1012	c.768G>T	c.(766-768)ctG>ctT	p.L256L	ARGLU1_ENST00000375926.1_Silent_p.L125L|ARGLU1_ENST00000472226.1_5'UTR	NM_018011.3	NP_060481.3	Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1	256					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)				large_intestine(1)|lung(5)|pancreas(1)	7	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					TCCCCTTGCCCAGGATAATtt	0.348																																						ENST00000400198.3																			0				large_intestine(1)|lung(5)|pancreas(1)	7						c.(766-768)ctG>ctT		arginine and glutamate rich 1							105.0	99.0	101.0					13																	107196398		1812	4072	5884	SO:0001819	synonymous_variant	55082							g.chr13:107196398C>A	BC071587	CCDS41906.1	13q33.3	2011-10-03	2007-11-28		ENSG00000134884	ENSG00000134884			25482	protein-coding gene	gene with protein product		614046				21454576	Standard	NM_018011		Approved	FLJ10154	uc001vqk.4	Q9NWB6	OTTHUMG00000017321	ENST00000400198.3:c.768G>T	13.37:g.107196398C>A						ARGLU1_ENST00000375926.1_Silent_p.L125L|ARGLU1_ENST00000472226.1_5'UTR	p.L256L	NM_018011.3	NP_060481.3	Q9NWB6	ARGL1_HUMAN			4	1012	-	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)		256					B4E0Y3|Q5T257|Q6IQ34	Silent	SNP	ENST00000400198.3	37	c.768G>T	CCDS41906.1																																																																																				0.348	ARGLU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045727.1	NM_018011		23	44	1	0	1.87028e-06	1	2.1202e-06	23	44				
OTOP1	133060	broad.mit.edu	37	4	4190672	4190672	+	Missense_Mutation	SNP	C	C	A	rs554408396		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:4190672C>A	ENST00000296358.4	-	6	1721	c.1697G>T	c.(1696-1698)cGa>cTa	p.R566L		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	566					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.R566Q(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ATACTCAGGTCGACAGCCAAA	0.502																																						ENST00000296358.4																			1	Substitution - Missense(1)	p.R566Q(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1696-1698)cGa>cTa		otopetrin 1							58.0	61.0	60.0					4																	4190672		2203	4300	6503	SO:0001583	missense	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4190672C>A	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.1697G>T	4.37:g.4190672C>A	ENSP00000296358:p.Arg566Leu						p.R566L	NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	6	1721	-			566					A1L476	Missense_Mutation	SNP	ENST00000296358.4	37	c.1697G>T	CCDS3372.1	.	.	.	.	.	.	.	.	.	.	c	17.18	3.323686	0.60634	.	.	ENSG00000163982	ENST00000296358	T	0.21932	1.98	3.59	3.59	0.41128	.	0.000000	0.85682	D	0.000000	T	0.33440	0.0863	M	0.75264	2.295	0.80722	D	1	P	0.36392	0.551	B	0.42882	0.401	T	0.42965	-0.9420	10	0.87932	D	0	0.0829	15.7183	0.77688	0.0:1.0:0.0:0.0	.	566	Q7RTM1	OTOP1_HUMAN	L	566	ENSP00000296358:R566L	ENSP00000296358:R566L	R	-	2	0	OTOP1	4241573	1.000000	0.71417	0.968000	0.41197	0.763000	0.43281	5.386000	0.66238	1.998000	0.58463	0.536000	0.68110	CGA		0.502	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		9	68	1	0	5.4927e-09	1	6.63594e-09	9	68				
SNRPD3	6634	broad.mit.edu	37	22	24967993	24967993	+	3'UTR	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr22:24967993G>C	ENST00000215829.3	+	0	1016				SNRPD3_ENST00000402849.1_Silent_p.L109L	NM_001278656.1|NM_004175.3	NP_001265585.1|NP_004166.1	P62318	SMD3_HUMAN	small nuclear ribonucleoprotein D3 polypeptide 18kDa						gene expression (GO:0010467)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	enzyme binding (GO:0019899)|histone pre-mRNA DCP binding (GO:0071208)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6						CAGGTTATCTGAGTTCATTGG	0.393																																						ENST00000402849.1																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6						c.(325-327)ctG>ctC		small nuclear ribonucleoprotein D3 polypeptide 18kDa							39.0	36.0	37.0					22																	24967993		2203	4300	6503	SO:0001624	3_prime_UTR_variant	6634				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	enzyme binding|histone pre-mRNA DCP binding	g.chr22:24967993G>C	U15009	CCDS13828.1	22q11.23	2011-10-11	2002-08-29		ENSG00000100028	ENSG00000100028			11160	protein-coding gene	gene with protein product		601062	"""small nuclear ribonucleoprotein D3 polypeptide (18kD)"""			1701240, 7527560	Standard	NM_004175		Approved	SMD3, Sm-D3	uc003aam.1	P62318	OTTHUMG00000150727	ENST00000215829.3:c.*48G>C	22.37:g.24967993G>C						SNRPD3_ENST00000215829.3_3'UTR	p.L109L			P62318	SMD3_HUMAN			4	410	+			0			Arg/Lys-rich (basic).		B4DJP7|B5BU13|P43331	Silent	SNP	ENST00000215829.3	37	c.327G>C	CCDS13828.1																																																																																				0.393	SNRPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319813.1	NM_004175		3	27	0	0	0	1	0	3	27				
SI	6476	broad.mit.edu	37	3	164704925	164704925	+	Splice_Site	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:164704925C>A	ENST00000264382.3	-	45	5260		c.e45+1			NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)						carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CGAGCACTCACCTATACTCTC	0.358										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.e45+1		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						139.0	138.0	138.0					3																	164704925		2203	4300	6503	SO:0001630	splice_region_variant	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164704925C>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.5197+1G>T	3.37:g.164704925C>A		HNSCC(35;0.089)						NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			45	5260	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)						A2RUC3|Q1JQ80|Q1RMC2	Splice_Site	SNP	ENST00000264382.3	37		CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.717327	0.68844	.	.	ENSG00000090402	ENST00000264382	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4986	0.90874	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SI	166187619	1.000000	0.71417	0.168000	0.22838	0.726000	0.41606	6.496000	0.73670	2.689000	0.91719	0.591000	0.81541	.		0.358	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041	Intron	24	111	1	0	6.21321e-17	1	8.65812e-17	24	111				
KLHL8	57563	broad.mit.edu	37	4	88116485	88116485	+	Silent	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:88116485G>A	ENST00000273963.5	-	2	548	c.207C>T	c.(205-207)gtC>gtT	p.V69V	KLHL8_ENST00000425278.2_Silent_p.V69V|KLHL8_ENST00000498875.2_Silent_p.V69V|KLHL8_ENST00000545252.1_5'UTR|KLHL8_ENST00000512111.1_Silent_p.V69V	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	69	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		CCTTGAGTGTGACATCACAGA	0.368																																						ENST00000273963.5																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(205-207)gtC>gtT		kelch-like family member 8							73.0	73.0	73.0					4																	88116485		2203	4300	6503	SO:0001819	synonymous_variant	57563							g.chr4:88116485G>A	AB037799	CCDS3617.1, CCDS75163.1	4q21.3	2013-01-30	2013-01-30		ENSG00000145332	ENSG00000145332		"""Kelch-like"", ""BTB/POZ domain containing"""	18644	protein-coding gene	gene with protein product		611967	"""kelch-like 8 (Drosophila)"""				Standard	XM_005263153		Approved	KIAA1378	uc003hql.1	Q9P2G9	OTTHUMG00000130593	ENST00000273963.5:c.207C>T	4.37:g.88116485G>A						KLHL8_ENST00000425278.2_Silent_p.V69V|KLHL8_ENST00000498875.2_Silent_p.V69V|KLHL8_ENST00000512111.1_Silent_p.V69V|KLHL8_ENST00000545252.1_5'UTR	p.V69V	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000603)	2	548	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	69			BTB.		Q53XA3|Q6N018	Silent	SNP	ENST00000273963.5	37	c.207C>T	CCDS3617.1																																																																																				0.368	KLHL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253040.1			20	57	0	0	0	1	0	20	57				
XRCC5	7520	broad.mit.edu	37	2	216992302	216992303	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:216992302_216992303insA	ENST00000392133.3	+	10	1303_1304	c.842_843insA	c.(841-846)gcaaaafs	p.AK281fs	XRCC5_ENST00000392132.2_Frame_Shift_Ins_p.AK281fs			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	281	Ku.				brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		GTTGTGGATGCAAAAACCCTAA	0.307								Non-homologous end-joining																														ENST00000392133.3																			0				endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(841-843)gaafs	Non-homologous end-joining	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)																																				SO:0001589	frameshift_variant	7520				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding	g.chr2:216992302_216992303insA	AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246			12833	protein-coding gene	gene with protein product	"""Ku autoantigen, 80kDa"""	194364	"""X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)"""			9636207, 9214634	Standard	NM_021141		Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.847dupA	2.37:g.216992307_216992307dupA	ENSP00000375978:p.Ala281fs					XRCC5_ENST00000392132.2_Frame_Shift_Ins_p.E281fs	p.E281fs			P13010	XRCC5_HUMAN		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)	10	1303_1304	+		Renal(323;0.0328)	281			Ku.		A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Frame_Shift_Ins	INS	ENST00000392133.3	37	c.842_843insA	CCDS2402.1																																																																																				0.307	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256675.3	NM_021141		33	81						33	81	---	---	---	---
ALS2CL	259173	broad.mit.edu	37	3	46720728	46720728	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:46720728delA	ENST00000318962.4	-	15	1681	c.1598delT	c.(1597-1599)ttcfs	p.F533fs	ALS2CL_ENST00000415953.1_Frame_Shift_Del_p.F533fs|ALS2CL_ENST00000383742.3_5'Flank	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	533					endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GTCCCTGGTGAAGGTGCCCTC	0.617																																						ENST00000318962.4																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29						c.(1597-1599)tcfs		ALS2 C-terminal like							30.0	29.0	29.0					3																	46720728		2199	4296	6495	SO:0001589	frameshift_variant	259173				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr3:46720728delA	AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.1598delT	3.37:g.46720728delA	ENSP00000313670:p.Phe533fs					ALS2CL_ENST00000415953.1_Frame_Shift_Del_p.F533fs	p.F533fs	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)	15	1681	-			533					Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Frame_Shift_Del	DEL	ENST00000318962.4	37	c.1598delT	CCDS2743.1																																																																																				0.617	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250567.3	NM_147129		2	4						2	4	---	---	---	---
SLC25A20	788	broad.mit.edu	37	3	48921468	48921468	+	Frame_Shift_Del	DEL	C	C	-	rs148259116	byFrequency	TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:48921468delC	ENST00000319017.4	-	3	486	c.288delG	c.(286-288)gggfs	p.G96fs	SLC25A20_ENST00000544097.1_Frame_Shift_Del_p.G46fs|SLC25A20_ENST00000430379.1_Intron	NM_000387.5	NP_000378.1	O43772	MCAT_HUMAN	solute carrier family 25 (carnitine/acylcarnitine translocase), member 20	96					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	L-Carnitine(DB00583)	GTAGTTTCTTCCCCAAACCAA	0.512																																						ENST00000319017.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)	13						c.(286-288)ggfs		solute carrier family 25 (carnitine/acylcarnitine translocase), member 20	L-Carnitine(DB00583)						115.0	90.0	99.0					3																	48921468		2203	4300	6503	SO:0001589	frameshift_variant	788				carnitine shuttle|cellular lipid metabolic process|regulation of fatty acid oxidation	integral to membrane|mitochondrial inner membrane	acyl carnitine transporter activity	g.chr3:48921468delC	Y10319	CCDS2779.1	3p21.31	2013-05-22			ENSG00000178537	ENSG00000178537		"""Solute carriers"""	1421	protein-coding gene	gene with protein product	"""carnitine-acylcarnitine carrier"", ""carnitine/acylcarnitine translocase"""	613698		CACT		9399886, 9533014	Standard	NM_000387		Approved	CAC	uc003cva.4	O43772	OTTHUMG00000133538	ENST00000319017.4:c.288delG	3.37:g.48921468delC	ENSP00000326305:p.Gly96fs					SLC25A20_ENST00000544097.1_Frame_Shift_Del_p.G46fs|SLC25A20_ENST00000430379.1_Intron	p.G96fs	NM_000387.5	NP_000378.1	O43772	MCAT_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	3	486	-			96					B2R7F4|Q9UIQ2	Frame_Shift_Del	DEL	ENST00000319017.4	37	c.288delG	CCDS2779.1																																																																																				0.512	SLC25A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257516.2	NM_000387		10	34						10	34	---	---	---	---
ZIC1	7545	broad.mit.edu	37	3	147127985	147127985	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:147127985delC	ENST00000282928.4	+	1	815	c.86delC	c.(85-87)gccfs	p.A29fs		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	29					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GGCGACGTGGCCGAACGAGAC	0.711																																						ENST00000282928.4																			0				central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						c.(85-87)gcfs		Zic family member 1							27.0	30.0	29.0					3																	147127985		2189	4276	6465	SO:0001589	frameshift_variant	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147127985delC	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.86delC	3.37:g.147127985delC	ENSP00000282928:p.Ala29fs						p.A29fs	NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN			1	815	+			29					Q2M3N1	Frame_Shift_Del	DEL	ENST00000282928.4	37	c.86delC	CCDS3136.1																																																																																				0.711	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		7	71						7	71	---	---	---	---
KCNMB3	27094	broad.mit.edu	37	3	178968722	178968722	+	Splice_Site	DEL	C	C	-	rs200675679		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:178968722delC	ENST00000314235.5	-	2	580	c.69delG	c.(67-69)agg>ag	p.R23fs	KCNMB3_ENST00000392685.2_Frame_Shift_Del_p.R19fs|KCNMB3_ENST00000349697.2_Splice_Site_p.R21fs|KCNMB3_ENST00000497599.1_Splice_Site_p.R21fs|KCNMB3_ENST00000485523.1_Start_Codon_Del	NM_014407.3	NP_055222.3	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M beta member 3	23					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)			NS(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03)		Miconazole(DB01110)|Procaine(DB00721)	GAAAGGCTGTCCTTTGGGGAA	0.517																																						ENST00000392685.2																			0				NS(1)|large_intestine(1)|lung(2)|stomach(1)	5						c.(55-57)agfs		potassium large conductance calcium-activated channel, subfamily M beta member 3							113.0	107.0	109.0					3																	178968722		2203	4300	6503	SO:0001630	splice_region_variant	27094				detection of calcium ion|platelet activation|regulation of action potential in neuron	voltage-gated potassium channel complex	calcium-activated potassium channel activity|potassium channel regulator activity	g.chr3:178968722delC	AF139471	CCDS3225.1, CCDS3226.1, CCDS43172.1, CCDS43173.1, CCDS54683.1	3q26.3-q27	2010-09-30			ENSG00000171121	ENSG00000171121		"""Potassium channels"""	6287	protein-coding gene	gene with protein product		605222		KCNMB2, KCNMBL		10585773	Standard	NM_001163677		Approved		uc003fjm.3	Q9NPA1	OTTHUMG00000157337	ENST00000314235.5:c.69-1G>-	3.37:g.178968722delC						KCNMB3_ENST00000349697.2_Splice_Site_p.R21_splice|KCNMB3_ENST00000497599.1_Splice_Site_p.R21_splice|KCNMB3_ENST00000314235.5_Splice_Site_p.R23_splice|KCNMB3_ENST00000485523.1_Start_Codon_Del	p.R19fs	NM_171830.1	NP_741981.1	Q9NPA1	KCMB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03)		1	696	-	all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		23					B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3	Frame_Shift_Del	DEL	ENST00000314235.5	37	c.57delG	CCDS3226.1																																																																																				0.517	KCNMB3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000348484.1		Frame_Shift_Del	29	114						29	114	---	---	---	---
MAGEF1	64110	broad.mit.edu	37	3	184429442	184429442	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:184429442delC	ENST00000317897.3	-	1	394	c.168delG	c.(166-168)cggfs	p.R56fs		NM_022149.4	NP_071432.2	Q9HAY2	MAGF1_HUMAN	melanoma antigen family F, 1	56						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)			TCGCGCCTTTCCGGGTGAGGG	0.716																																						ENST00000317897.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|urinary_tract(1)	11						c.(166-168)cgfs		melanoma antigen family F, 1							32.0	36.0	35.0					3																	184429442		2200	4299	6499	SO:0001589	frameshift_variant	64110							g.chr3:184429442delC	AF295378	CCDS3269.1	3q13	2008-02-05			ENSG00000177383	ENSG00000177383			29639	protein-coding gene	gene with protein product		609267				11313144	Standard	NM_022149		Approved		uc003fpa.3	Q9HAY2	OTTHUMG00000156712	ENST00000317897.3:c.168delG	3.37:g.184429442delC	ENSP00000315064:p.Arg56fs						p.R56fs	NM_022149.4	NP_071432.2	Q9HAY2	MAGF1_HUMAN	Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)		1	394	-	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		56					Q9H215	Frame_Shift_Del	DEL	ENST00000317897.3	37	c.168delG	CCDS3269.1																																																																																				0.716	MAGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345417.1	NM_022149		10	76						10	76	---	---	---	---
LSG1	55341	broad.mit.edu	37	3	194365411	194365411	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:194365411delT	ENST00000265245.5	-	13	2002	c.1688delA	c.(1687-1689)cagfs	p.Q563fs	AC046143.3_ENST00000447139.1_RNA	NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	563					GTP catabolic process (GO:0006184)|nuclear export (GO:0051168)|protein transport (GO:0015031)|ribosome biogenesis (GO:0042254)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		TAGGAGTCGCTGGTGTTGATG	0.398																																						ENST00000265245.5																			0				breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16						c.(1687-1689)cgfs		large 60S subunit nuclear export GTPase 1							103.0	94.0	97.0					3																	194365411		2203	4300	6503	SO:0001589	frameshift_variant	55341				nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity	g.chr3:194365411delT		CCDS33922.1	3q29	2013-08-21	2013-08-21		ENSG00000041802	ENSG00000041802			25652	protein-coding gene	gene with protein product		610780	"""large subunit GTPase 1 homolog (S. cerevisiae)"""			11230166	Standard	NM_018385		Approved	FLJ11301	uc003fui.3	Q9H089	OTTHUMG00000156021	ENST00000265245.5:c.1688delA	3.37:g.194365411delT	ENSP00000265245:p.Gln563fs					AC046143.3_ENST00000447139.1_RNA	p.Q563fs	NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)	13	2002	-	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		563					A0JLT4|A0PJK3|A6NI18|Q7L9H8|Q9NUK8	Frame_Shift_Del	DEL	ENST00000265245.5	37	c.1688delA	CCDS33922.1																																																																																				0.398	LSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342740.1	NM_018385		11	51						11	51	---	---	---	---
POLR2B	5431	broad.mit.edu	37	4	57891562	57891563	+	Frame_Shift_Ins	INS	-	-	T	rs77059714		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:57891562_57891563insT	ENST00000381227.1	+	24	3511_3512	c.3098_3099insT	c.(3097-3102)actggtfs	p.G1034fs	POLR2B_ENST00000431623.2_Frame_Shift_Ins_p.G959fs|POLR2B_ENST00000441246.2_Frame_Shift_Ins_p.G1027fs|POLR2B_ENST00000314595.5_Frame_Shift_Ins_p.G1034fs			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	1034					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|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)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					AATGGGTTCACTGGTCGAAAAA	0.381																																						ENST00000381227.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52						c.(3097-3099)aggfs		polymerase (RNA) II (DNA directed) polypeptide B, 140kDa																																				SO:0001589	frameshift_variant	5431				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr4:57891562_57891563insT		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.3099dupT	4.37:g.57891563_57891563dupT	ENSP00000370625:p.Gly1034fs					POLR2B_ENST00000431623.2_Frame_Shift_Ins_p.R958fs|POLR2B_ENST00000441246.2_Frame_Shift_Ins_p.R1026fs|POLR2B_ENST00000314595.5_Frame_Shift_Ins_p.R1033fs	p.R1033fs			P30876	RPB2_HUMAN			24	3511_3512	+	Glioma(25;0.08)|all_neural(26;0.181)		1033					A8K1A8|Q8IZ61	Frame_Shift_Ins	INS	ENST00000381227.1	37	c.3098_3099insT	CCDS3511.1																																																																																				0.381	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		40	154						40	154	---	---	---	---
MUC7	4589	broad.mit.edu	37	4	71346990	71346990	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:71346990delC	ENST00000304887.5	+	3	719	c.529delC	c.(529-531)ccafs	p.P177fs	MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Frame_Shift_Del_p.P177fs|MUC7_ENST00000413702.1_Frame_Shift_Del_p.P177fs	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	177	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			TGCAACTACACCAGCTCCACC	0.537																																						ENST00000413702.1																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(529-531)cafs		mucin 7, secreted							352.0	288.0	309.0					4																	71346990		2203	4300	6503	SO:0001589	frameshift_variant	4589					extracellular region	protein binding	g.chr4:71346990delC	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.529delC	4.37:g.71346990delC	ENSP00000302021:p.Pro177fs					MUC7_ENST00000456088.1_Frame_Shift_Del_p.P177fs|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000304887.5_Frame_Shift_Del_p.P177fs	p.P177fs	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	817	+			177			Thr-rich.		Q9UCD7|Q9UCD8	Frame_Shift_Del	DEL	ENST00000304887.5	37	c.529delC	CCDS3541.1																																																																																				0.537	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		38	122						38	122	---	---	---	---
PCDHA6	56142	broad.mit.edu	37	5	140209283	140209284	+	Frame_Shift_Del	DEL	GC	GC	-	rs61730774	byFrequency	TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:140209283_140209284delGC	ENST00000529310.1	+	1	1721_1722	c.1607_1608delGC	c.(1606-1608)agcfs	p.S536fs	PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_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	536	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)			TTTCAGGTGAGCGCGCGCGACG	0.683																																						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.(1606-1608)afs																																						SO:0001589	frameshift_variant	56142							g.chr5:140209283_140209284delGC	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1607_1608delGC	5.37:g.140209289_140209290delGC	ENSP00000433378:p.Ser536fs					PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	p.S536fs	NM_018909.2|NM_031848.1|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	1721_1722	+								O75283|Q9NRT8	Frame_Shift_Del	DEL	ENST00000529310.1	37	c.1607_1608delGC	CCDS47281.1																																																																																				0.683	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		45	169						45	169	---	---	---	---
PCDHB18	54660	broad.mit.edu	37	5	140615346	140615347	+	RNA	INS	-	-	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:140615346_140615347insC	ENST00000526308.1	+	0	1409_1410					NR_001281.1		Q96TA0	PCDBI_HUMAN	protocadherin beta 18 pseudogene						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						GTAACAGAGCACCCACTGGACA	0.495																																						ENST00000526308.1																			0				endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18																																														54660							g.chr5:140615346_140615347insC	AF152528		5q31.3	2014-03-20			ENSG00000146001	ENSG00000146001		"""Cadherins / Protocadherins : Clustered"""	14548	pseudogene	pseudogene						10380929	Standard	NR_001281		Approved	PCDH-psi2	uc003ljc.1	Q96TA0	OTTHUMG00000167484		5.37:g.140615349_140615349dupC								NR_001281.1						0	1409_1410	+								B3KTF8	RNA	INS	ENST00000526308.1	37																																																																																						0.495	PCDHB18-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000394776.1			18	70						18	70	---	---	---	---
RP11-779O18.3	0	broad.mit.edu	37	5	172189475	172189475	+	RNA	DEL	G	G	-			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:172189475delG	ENST00000523005.1	+	0	0				RP11-779O18.1_ENST00000518941.1_RNA																							CCAGGCAGCCGACCATCCTGG	0.562																																						ENST00000518941.1																			0																																																			0							g.chr5:172189475delG																													5.37:g.172189475delG														0	388	+									RNA	DEL	ENST00000523005.1	37																																																																																						0.562	RP11-779O18.3-001	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000372516.1			24	85						24	85	---	---	---	---
HMP19	51617	broad.mit.edu	37	5	173531322	173531323	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:173531322_173531323insA	ENST00000303177.3	+	4	567_568	c.305_306insA	c.(304-309)ccagagfs	p.E103fs	NSG2_ENST00000521959.1_3'UTR|NSG2_ENST00000521585.1_Intron	NM_015980.4	NP_057064.1	Q9Y328	NSG2_HUMAN		103					clathrin coat assembly (GO:0048268)|dopamine receptor signaling pathway (GO:0007212)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											CACAGCTGCCCAGAGGGATTCG	0.49																																						ENST00000303177.3																			0											c.(304-306)cgafs																																						SO:0001589	frameshift_variant	51617							g.chr5:173531322_173531323insA																												ENST00000303177.3:c.306dupA	5.37:g.173531323_173531323dupA	ENSP00000307722:p.Glu103fs					NSG2_ENST00000521959.1_3'UTR|NSG2_ENST00000521585.1_Intron	p.R102fs	NM_015980.4	NP_057064.1					4	567_568	+								B2R5Y0|D3DQN0|Q9UHX8	Frame_Shift_Ins	INS	ENST00000303177.3	37	c.305_306insA	CCDS4391.1																																																																																				0.490	NSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252966.2			10	53						10	53	---	---	---	---
NSD1	64324	broad.mit.edu	37	5	176638343	176638344	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:176638343_176638344insG	ENST00000439151.2	+	5	2988_2989	c.2943_2944insG	c.(2944-2946)gggfs	p.G982fs	NSD1_ENST00000354179.4_Frame_Shift_Ins_p.G713fs|NSD1_ENST00000347982.4_Frame_Shift_Ins_p.G713fs|NSD1_ENST00000361032.4_Frame_Shift_Ins_p.G879fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	982					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)		CTAGCCCTAGTGGGGGTGACTC	0.515			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		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	GRCh37	CI051808	NSD1	I		c.(2941-2946)agggggfs		nuclear receptor binding SET domain protein 1																																				SO:0001589	frameshift_variant	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	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.chr5:176638343_176638344insG	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.2948dupG	5.37:g.176638348_176638348dupG	ENSP00000395929:p.Gly982fs	HNSCC(47;0.14)				NSD1_ENST00000354179.4_Frame_Shift_Ins_p.RG712fs|NSD1_ENST00000361032.4_Frame_Shift_Ins_p.RG878fs|NSD1_ENST00000347982.4_Frame_Shift_Ins_p.RG712fs	p.RG981fs	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	2988_2989	+	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)	981					Q96PD8|Q96RN7	Frame_Shift_Ins	INS	ENST00000439151.2	37	c.2943_2944insG	CCDS4412.1																																																																																				0.515	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		21	99						21	99	---	---	---	---
NSD1	64324	broad.mit.edu	37	5	176694686	176694686	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:176694686delG	ENST00000439151.2	+	15	5315	c.5270delG	c.(5269-5271)aggfs	p.R1757fs	NSD1_ENST00000361032.4_Frame_Shift_Del_p.R1654fs|NSD1_ENST00000347982.4_Frame_Shift_Del_p.R1488fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.R1488fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1757	PWWP 2. {ECO:0000255|PROSITE- ProRule:PRU00162}.				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)		CCACACTACAGGGAGATTGTC	0.433			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		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.(5269-5271)agfs		nuclear receptor binding SET domain protein 1							207.0	175.0	186.0					5																	176694686		2203	4300	6503	SO:0001589	frameshift_variant	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	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.chr5:176694686delG	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.5270delG	5.37:g.176694686delG	ENSP00000395929:p.Arg1757fs	HNSCC(47;0.14)				NSD1_ENST00000347982.4_Frame_Shift_Del_p.R1488fs|NSD1_ENST00000361032.4_Frame_Shift_Del_p.R1654fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.R1488fs	p.R1757fs	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)	15	5315	+	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)	1757			PWWP 2.		Q96PD8|Q96RN7	Frame_Shift_Del	DEL	ENST00000439151.2	37	c.5270delG	CCDS4412.1																																																																																				0.433	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		32	120						32	120	---	---	---	---
VARS2	57176	broad.mit.edu	37	6	30883016	30883024	+	Splice_Site	DEL	TAAGTAGAA	TAAGTAGAA	-	rs367960344		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:30883016_30883024delTAAGTAGAA	ENST00000321897.5	+	2	915		c.e2+2		VARS2_ENST00000542001.1_Splice_Site|VARS2_ENST00000416670.2_Splice_Site|VARS2_ENST00000541562.1_Splice_Site			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial						gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						AAAAGAAAGGTAAGTAGAATAAGTAAGAA	0.464																																						ENST00000321897.5																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						c.e2+2		valyl-tRNA synthetase 2, mitochondrial																																				SO:0001630	splice_region_variant	57176				valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	g.chr6:30883016_30883024delTAAGTAGAA	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	21642	protein-coding gene	gene with protein product	"""valine tRNA ligase 2, mitochondrial"""	612802	"""valyl-tRNA synthetase 2-like"", ""valyl-tRNA synthetase like"", ""valyl-tRNA synthetase 2, mitochondrial (putative)"""	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.283+2TAAGTAGAA>-	6.37:g.30883016_30883024delTAAGTAGAA						VARS2_ENST00000416670.2_Splice_Site|VARS2_ENST00000542001.1_Splice_Site|VARS2_ENST00000541562.1_Splice_Site				Q5ST30	SYVM_HUMAN			2	915	+								A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Splice_Site	DEL	ENST00000321897.5	37		CCDS34387.1																																																																																				0.464	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442	Intron	31	163						31	163	---	---	---	---
AUTS2	26053	broad.mit.edu	37	7	70255882	70255883	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:70255882_70255883insG	ENST00000342771.4	+	19	4001_4002	c.3680_3681insG	c.(3679-3684)ctggggfs	p.LG1227fs	AUTS2_ENST00000406775.2_Frame_Shift_Ins_p.LG1203fs	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1227										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		ATCTCCACGCTGGGGGGCCGCC	0.653																																						ENST00000342771.4																			0				breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50						c.(3679-3681)cggfs		autism susceptibility candidate 2																																				SO:0001589	frameshift_variant	26053							g.chr7:70255882_70255883insG	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.3686dupG	7.37:g.70255888_70255888dupG	ENSP00000344087:p.Leu1227fs					AUTS2_ENST00000406775.2_Frame_Shift_Ins_p.R1203fs	p.R1227fs	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	19	4001_4002	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	1227					A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Frame_Shift_Ins	INS	ENST00000342771.4	37	c.3680_3681insG	CCDS5539.1																																																																																				0.653	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			8	52						8	52	---	---	---	---
ABCB4	5244	broad.mit.edu	37	7	87083894	87083894	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:87083894delA	ENST00000265723.4	-	5	412	c.301delT	c.(301-303)tcgfs	p.S101fs	ABCB4_ENST00000453593.1_Frame_Shift_Del_p.S101fs|ABCB4_ENST00000358400.3_Frame_Shift_Del_p.S101fs|ABCB4_ENST00000359206.3_Frame_Shift_Del_p.S101fs|ABCB4_ENST00000545634.1_Frame_Shift_Del_p.S101fs	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	101	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	TTTAGCAGCGACAAGGAAAAG	0.259																																						ENST00000265723.4																			0				breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(301-303)cgfs		ATP-binding cassette, sub-family B (MDR/TAP), member 4							38.0	41.0	40.0					7																	87083894		2202	4294	6496	SO:0001589	frameshift_variant	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87083894delA	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.301delT	7.37:g.87083894delA	ENSP00000265723:p.Ser101fs					ABCB4_ENST00000545634.1_Frame_Shift_Del_p.S101fs|ABCB4_ENST00000359206.3_Frame_Shift_Del_p.S101fs|ABCB4_ENST00000453593.1_Frame_Shift_Del_p.S101fs|ABCB4_ENST00000358400.3_Frame_Shift_Del_p.S101fs	p.S101fs	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN			5	412	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		101			ABC transmembrane type-1 1.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Frame_Shift_Del	DEL	ENST00000265723.4	37	c.301delT	CCDS5606.1																																																																																				0.259	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		11	47						11	47	---	---	---	---
TRBV27	28560	broad.mit.edu	37	7	142423395	142423395	+	RNA	DEL	C	C	-			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:142423395delC	ENST00000390399.3	+	0	94									T cell receptor beta variable 27																		CCTTTACAGGCCCCCTGGAAG	0.488																																						ENST00000506718.1																			0																	6,3652		3,0,1826	68.0	68.0	68.0			-0.7	0.0	7		68	1,7875		0,1,3937	no	intergenic				3,1,5763	A1A1,A1R,RR		0.0127,0.164,0.0607			142423395	7,11527	1906	4115	6021			28560							g.chr7:142423395delC	L36092		7q34	2012-02-07			ENSG00000211752	ENSG00000211752		"""T cell receptors / TRB locus"""	12208	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TCRBV14S1, TCRBV27S1			OTTHUMG00000158924		7.37:g.142423395delC						TRBV27_ENST00000390399.3_RNA								0	403	+									RNA	DEL	ENST00000390399.3	37																																																																																						0.488	TRBV27-002	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352544.2	NG_001333		10	81						10	81	---	---	---	---
NEFM	4741	broad.mit.edu	37	8	24771446	24771446	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:24771446delC	ENST00000221166.5	+	1	922	c.140delC	c.(139-141)accfs	p.T47fs	GS1-72M22.1_ENST00000607058.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|NEFM_ENST00000433454.2_5'Flank|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000518131.1_Frame_Shift_Del_p.T47fs|NEFM_ENST00000437366.2_Frame_Shift_Del_p.T47fs			P07197	NFM_HUMAN	neurofilament, medium polypeptide	47	Head.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		TCGCCCAGCACCGTGTCCTCC	0.687																																						ENST00000221166.5																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36						c.(139-141)acfs		neurofilament, medium polypeptide							25.0	27.0	26.0					8																	24771446		2156	4224	6380	SO:0001589	frameshift_variant	4741					neurofilament	protein binding|structural constituent of cytoskeleton	g.chr8:24771446delC	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.140delC	8.37:g.24771446delC	ENSP00000221166:p.Thr47fs					GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000437366.2_Frame_Shift_Del_p.T47fs|NEFM_ENST00000518131.1_Frame_Shift_Del_p.T47fs	p.T47fs			P07197	NFM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	1	922	+		Prostate(55;0.157)	47			Head.		B4DGN2|E9PBF7|Q4QRK6	Frame_Shift_Del	DEL	ENST00000221166.5	37	c.140delC	CCDS6046.1																																																																																				0.687	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382		17	51						17	51	---	---	---	---
SFRP1	6422	broad.mit.edu	37	8	41166638	41166640	+	In_Frame_Del	DEL	GCT	GCT	-	rs3055861|rs3832595	byFrequency	TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:41166638_41166640delGCT	ENST00000220772.3	-	1	376_378	c.39_41delAGC	c.(37-42)gcagcc>gcc	p.13_14AA>A	SFRP1_ENST00000379845.3_5'Flank	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	13				Missing (in Ref. 1 and 3). {ECO:0000305}.	bone trabecula formation (GO:0060346)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to BMP stimulus (GO:0071773)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to prostaglandin E stimulus (GO:0071380)|cellular response to starvation (GO:0009267)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vitamin D (GO:0071305)|cellular response to X-ray (GO:0071481)|convergent extension involved in somitogenesis (GO:0090246)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral axis specification (GO:0009950)|female gonad development (GO:0008585)|gonad development (GO:0008406)|hematopoietic progenitor cell differentiation (GO:0002244)|hematopoietic stem cell differentiation (GO:0060218)|male gonad development (GO:0008584)|menstrual cycle phase (GO:0022601)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of bone remodeling (GO:0046851)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000080)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|negative regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000054)|neural crest cell fate commitment (GO:0014034)|neural tube closure (GO:0001843)|osteoblast differentiation (GO:0001649)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|proteolysis (GO:0006508)|regulation of angiogenesis (GO:0045765)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell cycle process (GO:0010564)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|somatic stem cell maintenance (GO:0035019)|stromal-epithelial cell signaling involved in prostate gland development (GO:0044345)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cysteine-type endopeptidase activity (GO:0004197)|drug binding (GO:0008144)|frizzled binding (GO:0005109)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			CACGCCCAGGGCTGCCCCGCGGC	0.764														1558	0.311102	0.0401	0.389	5008	,	,		9448	0.4038		0.3956	False		,,,				2504	0.4397					ENST00000220772.3																			0				breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7						c.(37-42)gcc>gc		secreted frizzled-related protein 1				337,0,3741		45,0,247,0,0,1747						1.6	0.3		dbSNP_107	8	2693,2,5163		669,0,1355,0,2,1903	no	codingComplex	SFRP1	NM_003012.4		714,0,1602,0,2,3650	A1A1,A1A2,A1R,A2A2,A2R,RR		34.2963,8.2639,25.4021				3030,2,8904				SO:0001651	inframe_deletion	6422				brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr8:41166638_41166640delGCT	AF017987	CCDS34886.1	8p11.21	2006-12-15			ENSG00000104332	ENSG00000104332		"""Secreted frizzled-related proteins"""	10776	protein-coding gene	gene with protein product		604156				9391078, 9192640	Standard	NM_003012		Approved	SARP2, FRP, FRP-1	uc003xnt.3	Q8N474	OTTHUMG00000164074	ENST00000220772.3:c.39_41delAGC	8.37:g.41166638_41166640delGCT	ENSP00000220772:p.Ala14del						p.AA13del	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)		1	376_378	-	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	13					O00546|O14779	In_Frame_Del	DEL	ENST00000220772.3	37	c.39_41delAGC	CCDS34886.1																																																																																				0.764	SFRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377132.1	NM_003012		4	3						4	3	---	---	---	---
XKR4	114786	broad.mit.edu	37	8	56436204	56436204	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:56436204delA	ENST00000327381.6	+	3	1471	c.1371delA	c.(1369-1371)ctafs	p.L457fs	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	457						integral component of membrane (GO:0016021)				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)			GCTGCAGGCTATTCATTTACT	0.458																																						ENST00000327381.5																			0				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.(1369-1371)ctfs		XK, Kell blood group complex subunit-related family, member 4							141.0	136.0	137.0					8																	56436204		2203	4300	6503	SO:0001589	frameshift_variant	114786					integral to membrane		g.chr8:56436204delA	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.1371delA	8.37:g.56436204delA	ENSP00000328326:p.Leu457fs						p.L457fs	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		3	1471	+			457					Q96PZ8	Frame_Shift_Del	DEL	ENST00000327381.6	37	c.1371delA	CCDS34893.1																																																																																				0.458	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		34	114						34	114	---	---	---	---
DMRT3	58524	broad.mit.edu	37	9	990511	990511	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:990511delT	ENST00000190165.2	+	2	963	c.925delT	c.(925-927)tccfs	p.S309fs		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	309					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		AGCGTTGCCCTCCAATGGGCA	0.572																																						ENST00000190165.2																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(925-927)ccfs		doublesex and mab-3 related transcription factor 3							127.0	110.0	116.0					9																	990511		2203	4300	6503	SO:0001589	frameshift_variant	58524				cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:990511delT	AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"""testis-specific protein"""	614754	"""DMRT-like family A3"""	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.925delT	9.37:g.990511delT	ENSP00000190165:p.Ser309fs						p.S309fs	NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN		Lung(218;0.0196)	2	963	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	309					Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Frame_Shift_Del	DEL	ENST00000190165.2	37	c.925delT	CCDS6443.1																																																																																				0.572	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240		23	68						23	68	---	---	---	---
OR56B1	387748	broad.mit.edu	37	11	5758304	5758304	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:5758304delC	ENST00000317121.3	+	1	624	c.558delC	c.(556-558)tgcfs	p.C186fs	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	186						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		TTGAACACTGCCTGTGCTCTA	0.502																																						ENST00000317121.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13						c.(556-558)tgfs		olfactory receptor, family 56, subfamily B, member 1							105.0	92.0	96.0					11																	5758304		2201	4297	6498	SO:0001589	frameshift_variant	387748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5758304delC	BK004386	CCDS31395.1	11p15.4	2012-08-09		2004-03-10	ENSG00000181023	ENSG00000181023		"""GPCR / Class A : Olfactory receptors"""	15245	protein-coding gene	gene with protein product				OR56B1P			Standard	NM_001005180		Approved		uc001mbt.2	Q8NGI3	OTTHUMG00000066891	ENST00000317121.3:c.558delC	11.37:g.5758304delC	ENSP00000322939:p.Cys186fs					TRIM5_ENST00000380027.1_Intron	p.C186fs	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)	1	624	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)	186					B2RNY6|B3KV42|Q6IF76	Frame_Shift_Del	DEL	ENST00000317121.3	37	c.558delC	CCDS31395.1																																																																																				0.502	OR56B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143354.1	NM_001005180		27	83						27	83	---	---	---	---
SBF2	81846	broad.mit.edu	37	11	9803081	9803082	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:9803081_9803082insT	ENST00000256190.8	-	39	5560_5561	c.5423_5424insA	c.(5422-5424)aagfs	p.K1808fs	SBF2-AS1_ENST00000534671.1_RNA|SBF2-AS1_ENST00000499953.2_RNA|SBF2-AS1_ENST00000527406.1_RNA|SBF2-AS1_ENST00000525636.1_RNA|SBF2-AS1_ENST00000498905.2_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1808	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CACTTGTGTGCTTTGGGGCTCC	0.485																																						ENST00000256190.8																			0				breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(5422-5424)acafs		SET binding factor 2																																				SO:0001589	frameshift_variant	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:9803081_9803082insT	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.5424dupA	11.37:g.9803084_9803084dupT	ENSP00000256190:p.Lys1808fs					SBF2-AS1_ENST00000525636.1_RNA|SBF2-AS1_ENST00000534671.1_RNA|SBF2-AS1_ENST00000499953.2_RNA|SBF2-AS1_ENST00000498905.2_RNA	p.T1808fs	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	39	5560_5561	-			1808			PH.		Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Frame_Shift_Ins	INS	ENST00000256190.8	37	c.5423_5424insA	CCDS31427.1																																																																																				0.485	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		40	156						40	156	---	---	---	---
NELL1	4745	broad.mit.edu	37	11	21556012	21556012	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:21556012delG	ENST00000357134.5	+	16	1890	c.1738delG	c.(1738-1740)ggtfs	p.G580fs	NELL1_ENST00000298925.5_Frame_Shift_Del_p.G608fs|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000325319.5_Frame_Shift_Del_p.G523fs|NELL1_ENST00000532434.1_Intron	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	580	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)	p.G580S(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GTGCAGAAGCGGTTTCCATGA	0.527																																						ENST00000298925.5																			1	Substitution - Missense(1)	p.G580S(1)	large_intestine(1)	NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						c.(1822-1824)gtfs		NEL-like 1 (chicken)							191.0	155.0	167.0					11																	21556012		2203	4300	6503	SO:0001589	frameshift_variant	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:21556012delG	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.1738delG	11.37:g.21556012delG	ENSP00000349654:p.Gly580fs					NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000357134.5_Frame_Shift_Del_p.G580fs|NELL1_ENST00000532434.1_Intron|NELL1_ENST00000325319.5_Frame_Shift_Del_p.G523fs	p.G608fs			Q92832	NELL1_HUMAN			17	1975	+			580			EGF-like 6; calcium-binding (Potential).		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Frame_Shift_Del	DEL	ENST00000357134.5	37	c.1822delG	CCDS7855.1																																																																																				0.527	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		18	80						18	80	---	---	---	---
OR6T1	219874	broad.mit.edu	37	11	123813975	123813975	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:123813975delC	ENST00000321252.2	-	1	605	c.571delG	c.(571-573)gacfs	p.D191fs		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	191						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		AGGTGGGTGTCCCCACAAGAA	0.547																																						ENST00000321252.2																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(571-573)acfs		olfactory receptor, family 6, subfamily T, member 1							76.0	66.0	70.0					11																	123813975		2202	4299	6501	SO:0001589	frameshift_variant	219874				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123813975delC	AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"""GPCR / Class A : Olfactory receptors"""	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.571delG	11.37:g.123813975delC	ENSP00000325203:p.Asp191fs						p.D191fs	NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	605	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	191					Q6IFE7	Frame_Shift_Del	DEL	ENST00000321252.2	37	c.571delG	CCDS31700.1																																																																																				0.547	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387264.1	NM_001005187		14	65						14	65	---	---	---	---
SMCO3	440087	broad.mit.edu	37	12	14959397	14959408	+	In_Frame_Del	DEL	ATGGCTTGGATG	ATGGCTTGGATG	-			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:14959397_14959408delATGGCTTGGATG	ENST00000316048.2	-	2	279_290	c.207_218delCATCCAAGCCAT	c.(205-219)atcatccaagccatt>att	p.69_73IIQAI>I	WBP11_ENST00000261167.2_5'Flank|C12orf60_ENST00000527783.1_Intron|C12orf60_ENST00000330828.2_Intron	NM_001013698.2	NP_001013720.2	A2RU48	SMCO3_HUMAN	single-pass membrane protein with coiled-coil domains 3	69						integral component of membrane (GO:0016021)											GATTTTCATAATGGCTTGGATGATGAGGTCAC	0.41																																						ENST00000316048.2																			0											c.(205-219)att>at		single-pass membrane protein with coiled-coil domains 3																																				SO:0001651	inframe_deletion	440087							g.chr12:14959397_14959408delATGGCTTGGATG		CCDS41759.1	12p12.3	2013-03-11	2013-03-11	2013-03-11	ENSG00000179256	ENSG00000179256			34401	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 69"""	C12orf69			Standard	NM_001013698		Approved	LOC440087	uc001rck.1	A2RU48	OTTHUMG00000167474	ENST00000316048.2:c.207_218delCATCCAAGCCAT	12.37:g.14959397_14959408delATGGCTTGGATG	ENSP00000381895:p.Ile69_Ala72del					C12orf60_ENST00000527783.1_Intron|C12orf60_ENST00000330828.2_Intron	p.IIQAI69del	NM_001013698.2	NP_001013720.2					2	279_290	-								Q8NAI5	In_Frame_Del	DEL	ENST00000316048.2	37	c.207_218delCATCCAAGCCAT	CCDS41759.1																																																																																				0.410	SMCO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394738.1	NM_001013698		7	205						7	205	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49433233	49433233	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:49433233delG	ENST00000301067.7	-	32	8213	c.8214delC	c.(8212-8214)cccfs	p.P2738fs	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2738					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)										TCCCAGCAAAGGGGGTCTGGC	0.592																																						ENST00000301067.7																			0											c.(8212-8214)ccfs		lysine (K)-specific methyltransferase 2D							23.0	25.0	25.0					12																	49433233		1989	4174	6163	SO:0001589	frameshift_variant	8085							g.chr12:49433233delG	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.8214delC	12.37:g.49433233delG	ENSP00000301067:p.Pro2738fs						p.P2738fs	NM_003482.3	NP_003473.3					32	8213	-								O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	c.8214delC	CCDS44873.1																																																																																				0.592	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			10	30						10	30	---	---	---	---
CABP1	9478	broad.mit.edu	37	12	121098997	121098997	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:121098997delG	ENST00000316803.3	+	5	1197	c.1063delG	c.(1063-1065)gggfs	p.G355fs	CABP1_ENST00000288616.3_Frame_Shift_Del_p.G212fs|CABP1_ENST00000351200.2_Frame_Shift_Del_p.G152fs|CABP1_ENST00000453000.1_Frame_Shift_Del_p.G291fs	NM_001033677.1	NP_001028849.1	Q9NZU7	CABP1_HUMAN	calcium binding protein 1	355	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				negative regulation of catalytic activity (GO:0043086)|negative regulation of cell communication by electrical coupling (GO:0010651)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of voltage-gated calcium channel activity (GO:1901386)	cell junction (GO:0030054)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|enzyme inhibitor activity (GO:0004857)|nuclear localization sequence binding (GO:0008139)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGACCTCAATGGGGATGGACG	0.532																																						ENST00000453000.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9						c.(871-873)ggfs		calcium binding protein 1							108.0	104.0	105.0					12																	121098997		2203	4300	6503	SO:0001589	frameshift_variant	9478					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding	g.chr12:121098997delG	AF169148	CCDS9204.1, CCDS9205.1, CCDS31913.1	12q24.31	2013-01-10	2007-03-12		ENSG00000157782	ENSG00000157782		"""EF-hand domain containing"""	1384	protein-coding gene	gene with protein product	"""calbrain"", ""caldendrin"""	605563				9920909, 10625670	Standard	NM_004276		Approved		uc001tyu.3	Q9NZU7	OTTHUMG00000156794	ENST00000316803.3:c.1063delG	12.37:g.121098997delG	ENSP00000317310:p.Gly355fs					CABP1_ENST00000316803.3_Frame_Shift_Del_p.G355fs|CABP1_ENST00000288616.3_Frame_Shift_Del_p.G212fs|CABP1_ENST00000351200.2_Frame_Shift_Del_p.G152fs	p.G291fs			Q9NZU7	CABP1_HUMAN			5	1383	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		355			EF-hand 2.		O95663|Q8N6H5|Q9NZU8	Frame_Shift_Del	DEL	ENST00000316803.3	37	c.871delG	CCDS31913.1																																																																																				0.532	CABP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345822.1	NM_001033677		14	74						14	74	---	---	---	---
OR4L1	122742	broad.mit.edu	37	14	20529093	20529093	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr14:20529093delC	ENST00000315683.1	+	1	890	c.890delC	c.(889-891)gccfs	p.A297fs		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	297						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		ATGCAAGAGGCCATAAGAAAA	0.323																																						ENST00000315683.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(889-891)gcfs		olfactory receptor, family 4, subfamily L, member 1							55.0	61.0	59.0					14																	20529093		2203	4297	6500	SO:0001589	frameshift_variant	122742				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20529093delC		CCDS32029.1	14q11.2	2013-09-23			ENSG00000176246	ENSG00000176246		"""GPCR / Class A : Olfactory receptors"""	15356	protein-coding gene	gene with protein product				OR4L2P			Standard	NM_001004717		Approved		uc001vwn.1	Q8NH43	OTTHUMG00000169492	ENST00000315683.1:c.890delC	14.37:g.20529093delC	ENSP00000319217:p.Ala297fs						p.A297fs	NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	890	+	all_cancers(95;0.00108)		297					Q6IEZ5	Frame_Shift_Del	DEL	ENST00000315683.1	37	c.890delC	CCDS32029.1																																																																																				0.323	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404381.1			45	111						45	111	---	---	---	---
BTBD7	55727	broad.mit.edu	37	14	93761192	93761193	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr14:93761192_93761193insT	ENST00000334746.5	-	3	480_481	c.173_174insA	c.(172-174)aagfs	p.K58fs	BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000298896.3_Frame_Shift_Ins_p.K58fs|BTBD7_ENST00000393170.2_5'Flank|BTBD7_ENST00000555525.1_Frame_Shift_Ins_p.K58fs	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	58					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)		p.K58fs*44(2)|p.R59fs*14(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		CAGAGGTTCTCTTTTTTTTGTC	0.441																																						ENST00000334746.5																			4	Deletion - Frameshift(2)|Insertion - Frameshift(2)	p.K58fs*44(2)|p.R59fs*14(2)	large_intestine(4)	breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35						c.(172-174)aagfs		BTB (POZ) domain containing 7																																				SO:0001589	frameshift_variant	55727							g.chr14:93761192_93761193insT	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.174dupA	14.37:g.93761200_93761200dupT	ENSP00000335615:p.Lys58fs					BTBD7_ENST00000555525.1_Frame_Shift_Ins_p.K58fs|BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000298896.3_Frame_Shift_Ins_p.K58fs	p.K58fs	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	3	480_481	-		all_cancers(154;0.08)	58					A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Frame_Shift_Ins	INS	ENST00000334746.5	37	c.173_174insA	CCDS32146.1																																																																																				0.441	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		7	239						7	239	---	---	---	---
ABCC1	4363	broad.mit.edu	37	16	16196534	16196534	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr16:16196534delG	ENST00000399410.3	+	20	2870	c.2695delG	c.(2695-2697)ggcfs	p.G899fs	ABCC1_ENST00000576557.1_3'UTR|ABCC1_ENST00000399408.2_Frame_Shift_Del_p.G909fs|ABCC1_ENST00000345148.5_Frame_Shift_Del_p.G899fs|ABCC1_ENST00000349029.5_Frame_Shift_Del_p.G784fs|ABCC1_ENST00000346370.5_Frame_Shift_Del_p.G843fs|ABCC1_ENST00000351154.5_Frame_Shift_Del_p.G840fs	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	899					arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	AATGGAGAATGGCATGCTGGT	0.597																																						ENST00000399408.2																			0				breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56						c.(2725-2727)gcfs		ATP-binding cassette, sub-family C (CFTR/MRP), member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						38.0	45.0	42.0					16																	16196534		2083	4210	6293	SO:0001589	frameshift_variant	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16196534delG	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.2695delG	16.37:g.16196534delG	ENSP00000382342:p.Gly899fs					ABCC1_ENST00000399410.3_Frame_Shift_Del_p.G899fs|ABCC1_ENST00000345148.5_Frame_Shift_Del_p.G899fs|ABCC1_ENST00000346370.5_Frame_Shift_Del_p.G843fs|ABCC1_ENST00000349029.5_Frame_Shift_Del_p.G784fs|ABCC1_ENST00000576557.1_3'UTR|ABCC1_ENST00000351154.5_Frame_Shift_Del_p.G840fs	p.G909fs			P33527	MRP1_HUMAN			21	2900	+			899					A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Frame_Shift_Del	DEL	ENST00000399410.3	37	c.2725delG	CCDS42122.1																																																																																				0.597	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		7	6						7	6	---	---	---	---
MMP15	4324	broad.mit.edu	37	16	58072217	58072217	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr16:58072217delG	ENST00000219271.3	+	3	1144	c.359delG	c.(358-360)cgafs	p.R120fs		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	120					cellular protein modification process (GO:0006464)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)|response to estradiol (GO:0032355)	extracellular matrix (GO:0031012)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R120L(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18					Marimastat(DB00786)	TTCGGGGTACGAGTGAAAGCC	0.652																																						ENST00000219271.3																			1	Substitution - Missense(1)	p.R120L(1)	lung(1)	breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(358-360)cafs		matrix metallopeptidase 15 (membrane-inserted)							102.0	94.0	97.0					16																	58072217		2198	4300	6498	SO:0001589	frameshift_variant	4324				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:58072217delG	Z48482	CCDS10792.1	16q13	2008-05-14	2005-08-08		ENSG00000102996	ENSG00000102996			7161	protein-coding gene	gene with protein product		602261	"""matrix metalloproteinase 15 (membrane-inserted)"""			9070935, 9119382	Standard	NM_002428		Approved	MT2-MMP, MTMMP2, SMCP-2	uc002ena.3	P51511	OTTHUMG00000133466	ENST00000219271.3:c.359delG	16.37:g.58072217delG	ENSP00000219271:p.Arg120fs						p.R120fs	NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN			3	1144	+			120					A0A2U6|Q14111	Frame_Shift_Del	DEL	ENST00000219271.3	37	c.359delG	CCDS10792.1																																																																																				0.652	MMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257342.1	NM_002428		67	99						67	99	---	---	---	---
DNM2	1785	broad.mit.edu	37	19	10940839	10940839	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:10940839delC	ENST00000355667.6	+	20	2408	c.2328delC	c.(2326-2328)cacfs	p.H776fs	DNM2_ENST00000408974.4_Frame_Shift_Del_p.H772fs|DNM2_ENST00000585892.1_Frame_Shift_Del_p.H776fs|DNM2_ENST00000389253.4_Frame_Shift_Del_p.H776fs|DNM2_ENST00000314646.5_Frame_Shift_Del_p.H776fs|DNM2_ENST00000359692.6_Frame_Shift_Del_p.H772fs	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	776	Pro-rich.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CCAGCATACACCCCCCTGGCC	0.682			"""F, N, Splice, Mis, O"""		ETP ALL																																	ENST00000314646.5				Rec	yes		19	19p13.2	1785	"""F, N, Splice, Mis, O"""	dynamin 2			L			ETP ALL		0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42						c.(2326-2328)cafs		dynamin 2							48.0	57.0	54.0					19																	10940839		2203	4297	6500	SO:0001589	frameshift_variant	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10940839delC		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.2328delC	19.37:g.10940839delC	ENSP00000347890:p.His776fs					DNM2_ENST00000389253.4_Frame_Shift_Del_p.H776fs|DNM2_ENST00000408974.4_Frame_Shift_Del_p.H772fs|DNM2_ENST00000359692.6_Frame_Shift_Del_p.H772fs|DNM2_ENST00000355667.6_Frame_Shift_Del_p.H776fs|DNM2_ENST00000585892.1_Frame_Shift_Del_p.H776fs	p.H776fs			P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		20	2492	+			776			Pro-rich.		A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Frame_Shift_Del	DEL	ENST00000355667.6	37	c.2328delC	CCDS45968.1																																																																																				0.682	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		73	131						73	131	---	---	---	---
DEDD2	162989	broad.mit.edu	37	19	42713939	42713941	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:42713939_42713941delCAC	ENST00000595337.1	-	4	587_589	c.500_502delGTG	c.(499-504)ggtgcc>gcc	p.G167del	DEDD2_ENST00000598727.1_In_Frame_Del_p.G167del|DEDD2_ENST00000596251.1_In_Frame_Del_p.G167del|DEDD2_ENST00000336034.4_In_Frame_Del_p.G162del|DEDD2_ENST00000593804.1_5'UTR	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN	death effector domain containing 2	167					apoptotic nuclear changes (GO:0030262)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|RNA processing (GO:0006396)|rRNA catabolic process (GO:0016075)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				CGCCGTCTGGCACCACCACTGGG	0.655																																						ENST00000595337.1																			0				endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5						c.(499-504)gcc>g		death effector domain containing 2																																				SO:0001651	inframe_deletion	162989				activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|RNA processing|rRNA catabolic process|transcription, DNA-dependent	nucleolus	DNA binding|receptor signaling complex scaffold activity	g.chr19:42713939_42713941delCAC	AY125488	CCDS12597.1, CCDS59391.1	19q13.31	2008-02-05				ENSG00000160570			24450	protein-coding gene	gene with protein product						11965497, 12235123	Standard	NM_133328		Approved	FLAME-3	uc031rkv.1	Q8WXF8		ENST00000595337.1:c.500_502delGTG	19.37:g.42713945_42713947delCAC	ENSP00000470082:p.Gly167del					DEDD2_ENST00000598727.1_In_Frame_Del_p.GA167del|DEDD2_ENST00000596251.1_In_Frame_Del_p.GA167del|DEDD2_ENST00000336034.4_In_Frame_Del_p.GA162del|DEDD2_ENST00000593804.1_5'UTR	p.GA167del	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN			4	587_589	-		Prostate(69;0.0704)	167					Q8NBR2|Q8NES1|Q8TAA8|Q96D35	In_Frame_Del	DEL	ENST00000595337.1	37	c.500_502delGTG	CCDS12597.1																																																																																				0.655	DEDD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463508.1	NM_133328		47	82						47	82	---	---	---	---
XRCC1	7515	broad.mit.edu	37	19	44057827	44057827	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:44057827delG	ENST00000262887.5	-	5	970	c.423delC	c.(421-423)cccfs	p.P141fs	XRCC1_ENST00000543982.1_Frame_Shift_Del_p.P110fs|L34079.3_ENST00000597119.1_RNA			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	141					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|hippocampus development (GO:0021766)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to organic substance (GO:0010033)|single strand break repair (GO:0000012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				TCAAGCCAAAGGGGGAGTCCT	0.592								Other BER factors																														ENST00000262887.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(421-423)ccfs	Other BER factors	X-ray repair complementing defective repair in Chinese hamster cells 1							37.0	42.0	40.0					19																	44057827		2203	4299	6502	SO:0001589	frameshift_variant	7515				base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding	g.chr19:44057827delG	M36089	CCDS12624.1	19q13.2	2014-09-17				ENSG00000073050			12828	protein-coding gene	gene with protein product		194360		RCC		2247054	Standard	NM_006297		Approved		uc002owt.2	P18887		ENST00000262887.5:c.423delC	19.37:g.44057827delG	ENSP00000262887:p.Pro141fs					L34079.3_ENST00000597119.1_RNA|XRCC1_ENST00000543982.1_Frame_Shift_Del_p.P110fs	p.P141fs			P18887	XRCC1_HUMAN			5	970	-		Prostate(69;0.0153)	141					Q6IBS4|Q9HCB1	Frame_Shift_Del	DEL	ENST00000262887.5	37	c.423delC	CCDS12624.1																																																																																				0.592	XRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463194.1	NM_006297		16	58						16	58	---	---	---	---
LSM14B	149986	broad.mit.edu	37	20	60697741	60697742	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr20:60697741_60697742insC	ENST00000279068.6	+	1	179_180	c.19_20insC	c.(19-21)accfs	p.T7fs	LSM14B_ENST00000370915.1_Frame_Shift_Ins_p.T7fs|LSM14B_ENST00000253001.4_Frame_Shift_Ins_p.T7fs	NM_144703.2	NP_653304.2	Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)	7					multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)	ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			CTCCTCAGGCACCCCGTATCTG	0.723																																						ENST00000253001.4																			0				endometrium(3)|kidney(1)|lung(4)	8						c.(19-21)cccfs		LSM14B, SCD6 homolog B (S. cerevisiae)																																				SO:0001589	frameshift_variant	149986				multicellular organismal development|regulation of translation	ribonucleoprotein complex		g.chr20:60697741_60697742insC	AF172328	CCDS46626.1	20q13.33	2010-01-27	2006-12-21	2006-01-24	ENSG00000149657	ENSG00000149657			15887	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 40"", ""family with sequence similarity 61, member B"", ""LSM14 homolog B (SCD6, S. cerevisiae)"""	C20orf40, FAM61B			Standard	NM_144703		Approved	FT005, bA11M20.3, FLJ25473, LSM13, RAP55B	uc010gjy.1	Q9BX40	OTTHUMG00000032901	ENST00000279068.6:c.23dupC	20.37:g.60697745_60697745dupC	ENSP00000279068:p.Thr7fs					LSM14B_ENST00000279068.6_Frame_Shift_Ins_p.P7fs|LSM14B_ENST00000370915.1_Frame_Shift_Ins_p.P7fs	p.P7fs			Q9BX40	LS14B_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.28e-07)		1	225_226	+	Breast(26;3.97e-09)		7					Q6PFW8|Q96LH8	Frame_Shift_Ins	INS	ENST00000279068.6	37	c.19_20insC	CCDS46626.1																																																																																				0.723	LSM14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079996.4	NM_144703		8	36						8	36	---	---	---	---
RIPK4	54101	broad.mit.edu	37	21	43176869	43176870	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr21:43176869_43176870insC	ENST00000352483.2	-	2	353_354	c.289_290insG	c.(289-291)gagfs	p.E97fs	RIPK4_ENST00000332512.3_Frame_Shift_Ins_p.E97fs|RIPK4_ENST00000542057.1_Frame_Shift_Ins_p.E34fs|RIPK4_ENST00000544709.1_Frame_Shift_Ins_p.E34fs			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	97	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTCCATGTACTCCATGACCAGG	0.569																																						ENST00000352483.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(289-291)gtafs		receptor-interacting serine-threonine kinase 4																																				SO:0001589	frameshift_variant	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43176869_43176870insC	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.290dupG	21.37:g.43176871_43176871dupC	ENSP00000330161:p.Glu97fs					RIPK4_ENST00000332512.3_Frame_Shift_Ins_p.V97fs|RIPK4_ENST00000542057.1_Frame_Shift_Ins_p.V34fs|RIPK4_ENST00000544709.1_Frame_Shift_Ins_p.V34fs	p.V97fs			Q96T11	Q96T11_HUMAN			2	353_354	-			97					Q96KH0	Frame_Shift_Ins	INS	ENST00000352483.2	37	c.289_290insG																																																																																					0.569	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		18	64						18	64	---	---	---	---
SPIN3	169981	broad.mit.edu	37	X	57021177	57021177	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chrX:57021177delC	ENST00000374919.3	-	2	526	c.204delG	c.(202-204)tggfs	p.W68fs		NM_001010862.2	NP_001010862.2	Q5JUX0	SPIN3_HUMAN	spindlin family, member 3	68					gamete generation (GO:0007276)					central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						CGGTTCCTTTCCACTGTGTTA	0.478																																						ENST00000374919.3																			0				central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(202-204)tgfs		spindlin family, member 3							157.0	159.0	158.0					X																	57021177		2190	4290	6480	SO:0001589	frameshift_variant	169981				gamete generation			g.chrX:57021177delC	AL832091	CCDS43963.1	Xp11.22	2008-02-05			ENSG00000204271	ENSG00000204271			27272	protein-coding gene	gene with protein product							Standard	NM_001010862		Approved		uc004dux.1	Q5JUX0	OTTHUMG00000021677	ENST00000374919.3:c.204delG	X.37:g.57021177delC	ENSP00000364054:p.Trp68fs						p.W68fs	NM_001010862.2	NP_001010862.2	Q5JUX0	SPIN3_HUMAN			2	526	-			68					B2RUW3|B7Z8W2|Q8N5D9	Frame_Shift_Del	DEL	ENST00000374919.3	37	c.204delG	CCDS43963.1																																																																																				0.478	SPIN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056908.1	XM_093024		63	110						63	110	---	---	---	---
TSIX	9383	broad.mit.edu	37	X	73047124	73047125	+	lincRNA	DEL	AC	AC	-			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chrX:73047124_73047125delAC	ENST00000604411.1	+	0	35085_35086				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		GCCACACATGACACACACACAC	0.47																																						ENST00000604411.1																			0																	21,2160		6,4,5,902,352						-3.8	0.0			146	63,3745		10,20,23,1404,917	no	intergenic				16,24,28,2306,1269	A1A1,A1R,A1,RR,R		1.6544,0.9629,1.4026				84,5905						9383							g.chrX:73047124_73047125delAC			Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73047134_73047135delAC						XIST_ENST00000429829.1_lincRNA		NR_003255.2						0	35085_35086	+									RNA	DEL	ENST00000604411.1	37																																																																																						0.470	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1	NR_003255		9	107						9	107	---	---	---	---
