#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
NUP210L	91181	broad.mit.edu	37	1	154067630	154067630	+	Silent	SNP	A	A	T			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr1:154067630A>T	ENST00000368559.3	-	15	2039	c.1968T>A	c.(1966-1968)gcT>gcA	p.A656A	NUP210L_ENST00000271854.3_Silent_p.A656A	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	656					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CAGGATTTAAAGCCTGATGAT	0.393																																						ENST00000368559.3																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(1966-1968)gcT>gcA		nucleoporin 210kDa-like							55.0	54.0	54.0					1																	154067630		1842	4079	5921	SO:0001819	synonymous_variant	91181					integral to membrane		g.chr1:154067630A>T	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.1968T>A	1.37:g.154067630A>T			Somatic				NUP210L_ENST00000271854.3_Silent_p.A656A	p.A656A	NM_207308.2	NP_997191.2	WXS	Illumina GAIIx	Phase_I	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		15	2039	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		656					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Silent	SNP	ENST00000368559.3	37	c.1968T>A	CCDS41399.1																																																																																				0.393	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		16	26	16	26	---	---	---	---
MAPKAPK2	9261	broad.mit.edu	37	1	206858781	206858781	+	Silent	SNP	C	C	G			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr1:206858781C>G	ENST00000367103.3	+	1	400	c.207C>G	c.(205-207)gtC>gtG	p.V69V	MAPKAPK2_ENST00000294981.4_Silent_p.V69V	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2	69	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|arachidonic acid metabolic process (GO:0019369)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|G2 DNA damage checkpoint (GO:0031572)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|leukotriene metabolic process (GO:0006691)|macropinocytosis (GO:0044351)|MAPK cascade (GO:0000165)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of interleukin-6 production (GO:0032675)|regulation of tumor necrosis factor production (GO:0032680)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			CCAGCCAGGTCCTGGGGCTGG	0.607																																						ENST00000367103.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19						c.(205-207)gtC>gtG		mitogen-activated protein kinase-activated protein kinase 2							45.0	46.0	45.0					1																	206858781		2203	4300	6503	SO:0001819	synonymous_variant	9261				activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr1:206858781C>G	U12779	CCDS1466.1, CCDS31001.1	1q32	2008-02-05			ENSG00000162889	ENSG00000162889			6887	protein-coding gene	gene with protein product		602006				8179591, 8280084	Standard	NM_004759		Approved		uc001hem.2	P49137	OTTHUMG00000036342	ENST00000367103.3:c.207C>G	1.37:g.206858781C>G			Somatic				MAPKAPK2_ENST00000294981.4_Silent_p.V69V	p.V69V	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	WXS	Illumina GAIIx	Phase_I	P49137	MAPK2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.211)		1	400	+	Breast(84;0.183)		69			Protein kinase.		Q5SY30|Q5SY41|Q8IYD6	Silent	SNP	ENST00000367103.3	37	c.207C>G	CCDS31001.1																																																																																				0.607	MAPKAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088465.1	NM_004759		27	26	27	26	---	---	---	---
FCAMR	83953	broad.mit.edu	37	1	207133070	207133070	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr1:207133070A>G	ENST00000450945.2	-	6	748	c.725T>C	c.(724-726)tTa>tCa	p.L242S	FCAMR_ENST00000324852.4_Silent_p.L509L|FCAMR_ENST00000486178.1_5'UTR|FCAMR_ENST00000400962.3_Missense_Mutation_p.L242S			Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	383					immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						CCAGAGCCATAAGCATAAACA	0.522																																					Ovarian(199;1883 2142 16966 44409 45154)	ENST00000400962.3																			0				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						c.(724-726)tTa>tCa		Fc receptor, IgA, IgM, high affinity							153.0	148.0	149.0					1																	207133070		1568	3582	5150	SO:0001583	missense	83953					integral to membrane|plasma membrane	receptor activity	g.chr1:207133070A>G	AF354295	CCDS41460.1, CCDS53468.1	1q32.1	2013-01-14			ENSG00000162897	ENSG00000162897		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	24692	protein-coding gene	gene with protein product		605484				11779189	Standard	NM_001122979		Approved	FKSG87, FCA/MR, CD351	uc001hfa.4	Q8WWV6	OTTHUMG00000036579	ENST00000450945.2:c.725T>C	1.37:g.207133070A>G	ENSP00000392707:p.Leu242Ser		Somatic				FCAMR_ENST00000486178.1_5'UTR|FCAMR_ENST00000324852.4_Silent_p.L509L|FCAMR_ENST00000450945.2_Missense_Mutation_p.L242S	p.L242S	NM_001122979.2|NM_032029.4	NP_001116451.1|NP_114418.2	WXS	Illumina GAIIx	Phase_I	Q8WWV6	FCAMR_HUMAN			7	1141	-			383					Q32M82|Q8WWV5|Q96SA2	Missense_Mutation	SNP	ENST00000450945.2	37	c.725T>C	CCDS41460.1	.	.	.	.	.	.	.	.	.	.	A	13.17	2.157028	0.38119	.	.	ENSG00000162897	ENST00000400962;ENST00000450945	T;T	0.06687	3.27;3.27	4.73	-1.41	0.08941	.	.	.	.	.	T	0.03136	0.0092	.	.	.	0.09310	N	1	B	0.19331	0.035	B	0.19391	0.025	T	0.47497	-0.9113	8	0.08179	T	0.78	-2.796	5.1821	0.15165	0.4116:0.1895:0.3988:0.0	.	197	Q8WWV6-2	.	S	242	ENSP00000383746:L242S;ENSP00000392707:L242S	ENSP00000383746:L242S	L	-	2	0	FCAMR	205199693	0.001000	0.12720	0.017000	0.16124	0.316000	0.28119	0.130000	0.15850	-0.120000	0.11809	-0.256000	0.11100	TTA		0.522	FCAMR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088968.2	NM_032029		105	107	105	107	---	---	---	---
ENAH	55740	broad.mit.edu	37	1	225699534	225699534	+	Missense_Mutation	SNP	C	C	A	rs549324711		TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr1:225699534C>A	ENST00000366844.3	-	10	1901	c.1450G>T	c.(1450-1452)Gcc>Tcc	p.A484S	ENAH_ENST00000284563.6_Missense_Mutation_p.A731S|ENAH_ENST00000366843.2_Missense_Mutation_p.A484S	NM_001008493.1|NM_018212.4	NP_001008493.1|NP_060682.2	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	484	EVH2.				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)		GTTGAAGAGGCCTTAGAAGTT	0.323																																						ENST00000366844.3																			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.(1450-1452)Gcc>Tcc		enabled homolog (Drosophila)							38.0	40.0	39.0					1																	225699534		2200	4297	6497	SO:0001583	missense	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.chr1:225699534C>A	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.1450G>T	1.37:g.225699534C>A	ENSP00000355809:p.Ala484Ser		Somatic				ENAH_ENST00000284563.6_Missense_Mutation_p.A731S|ENAH_ENST00000366843.2_Missense_Mutation_p.A484S	p.A484S	NM_001008493.1|NM_018212.4	NP_001008493.1|NP_060682.2	WXS	Illumina GAIIx	Phase_I	Q8N8S7	ENAH_HUMAN		GBM - Glioblastoma multiforme(131;0.19)	10	1901	-	Breast(184;0.206)					EVH2.		D0PQI2|Q502W5|Q5T5M7|Q5VTQ9|Q5VTR0|Q9NVF3|Q9UFB8	Missense_Mutation	SNP	ENST00000366844.3	37	c.1450G>T	CCDS31041.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508406	0.44660	.	.	ENSG00000154380	ENST00000366844;ENST00000366843;ENST00000284563;ENST00000538194	T;T;T	0.41065	1.01;1.01;1.14	5.98	1.48	0.22813	.	0.455261	0.21789	N	0.069092	T	0.32315	0.0825	L	0.59436	1.845	0.32227	N	0.574487	P;B	0.51057	0.941;0.242	P;B	0.45712	0.491;0.119	T	0.46638	-0.9177	10	0.02654	T	1	-1.668	5.4363	0.16484	0.0:0.4559:0.2729:0.2711	.	484;484	Q8N8S7-2;Q8N8S7	.;ENAH_HUMAN	S	484;484;731;446	ENSP00000355809:A484S;ENSP00000355808:A484S;ENSP00000284563:A731S	ENSP00000284563:A731S	A	-	1	0	ENAH	223766157	0.990000	0.36364	0.789000	0.31954	0.974000	0.67602	0.330000	0.19715	0.407000	0.25591	0.655000	0.94253	GCC		0.323	ENAH-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357426.2	NM_018212		5	17	5	17	---	---	---	---
NRBP1	29959	broad.mit.edu	37	2	27662756	27662756	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr2:27662756G>C	ENST00000233557.3	+	12	1859	c.1027G>C	c.(1027-1029)Gga>Cga	p.G343R	NRBP1_ENST00000379852.3_Missense_Mutation_p.G343R|KRTCAP3_ENST00000543753.1_5'Flank|KRTCAP3_ENST00000407293.1_5'Flank|KRTCAP3_ENST00000288873.3_5'Flank|NRBP1_ENST00000379863.3_Missense_Mutation_p.G351R			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	343					ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CTGCATTGTGGGACACCAACG	0.517																																						ENST00000233557.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(1027-1029)Gga>Cga		nuclear receptor binding protein 1							94.0	92.0	93.0					2																	27662756		2203	4300	6503	SO:0001583	missense	29959				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity	g.chr2:27662756G>C	AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"""nuclear receptor binding protein"""	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.1027G>C	2.37:g.27662756G>C	ENSP00000233557:p.Gly343Arg		Somatic				NRBP1_ENST00000379863.3_Missense_Mutation_p.G351R|NRBP1_ENST00000379852.3_Missense_Mutation_p.G343R	p.G343R			WXS	Illumina GAIIx	Phase_I	Q9UHY1	NRBP_HUMAN			12	1859	+	Acute lymphoblastic leukemia(172;0.155)		343					B3KV40|D6W558|Q53FZ5|Q96SU3	Missense_Mutation	SNP	ENST00000233557.3	37	c.1027G>C	CCDS1753.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.325371	0.41197	.	.	ENSG00000115216	ENST00000233557;ENST00000421823;ENST00000379852;ENST00000379863	T;T;T	0.30448	1.53;1.53;1.53	5.51	5.51	0.81932	.	0.046343	0.85682	D	0.000000	T	0.20740	0.0499	N	0.14661	0.345	0.50813	D	0.999894	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.12156	0.002;0.007;0.003	T	0.06917	-1.0800	10	0.17369	T	0.5	-11.8002	17.9582	0.89076	0.0:0.0:1.0:0.0	.	323;351;343	B4DW31;F8W6G1;Q9UHY1	.;.;NRBP_HUMAN	R	343;323;343;351	ENSP00000233557:G343R;ENSP00000369181:G343R;ENSP00000369192:G351R	ENSP00000233557:G343R	G	+	1	0	NRBP1	27516260	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.183000	0.58317	2.598000	0.87819	0.655000	0.94253	GGA		0.517	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215033.1	NM_013392		4	86	4	86	---	---	---	---
LIPT1	51601	broad.mit.edu	37	2	99779276	99779276	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr2:99779276C>T	ENST00000393473.2	+	3	1080	c.856C>T	c.(856-858)Cat>Tat	p.H286Y	LIPT1_ENST00000340066.1_Missense_Mutation_p.H286Y|LIPT1_ENST00000393471.2_Missense_Mutation_p.H286Y|LIPT1_ENST00000393474.3_Missense_Mutation_p.H286Y|LIPT1_ENST00000393477.3_Missense_Mutation_p.H286Y|MRPL30_ENST00000410042.1_Intron	NM_001204830.1|NM_015929.3	NP_001191759.1|NP_057013.1	Q9Y234	LIPT_HUMAN	lipoyltransferase 1	286					cellular protein modification process (GO:0006464)|lipid metabolic process (GO:0006629)|protein lipoylation (GO:0009249)	mitochondrion (GO:0005739)	transferase activity, transferring acyl groups (GO:0016746)			large_intestine(6)|lung(1)	7					Lipoic Acid(DB00166)	TACTTCCTTTCATGTGTTATA	0.328																																					GBM(84;665 1268 21657 25485 30647)	ENST00000393477.3																			0				large_intestine(6)|lung(1)	7						c.(856-858)Cat>Tat		lipoyltransferase 1	Lipoic Acid(DB00166)						43.0	44.0	44.0					2																	99779276		2203	4300	6503	SO:0001583	missense	51601				lipid metabolic process|protein lipoylation	mitochondrion	acyltransferase activity	g.chr2:99779276C>T	AB017566	CCDS2039.1	2q11.2	2010-11-25			ENSG00000144182	ENSG00000144182	2.3.1.181		29569	protein-coding gene	gene with protein product		610284				10103005	Standard	NM_145197		Approved	MGC12290, MGC13378	uc002szq.4	Q9Y234	OTTHUMG00000130640	ENST00000393473.2:c.856C>T	2.37:g.99779276C>T	ENSP00000377115:p.His286Tyr		Somatic				LIPT1_ENST00000393473.2_Missense_Mutation_p.H286Y|LIPT1_ENST00000340066.1_Missense_Mutation_p.H286Y|LIPT1_ENST00000393471.2_Missense_Mutation_p.H286Y|MRPL30_ENST00000410042.1_Intron|LIPT1_ENST00000393474.3_Missense_Mutation_p.H286Y	p.H286Y	NM_145197.2	NP_660198.1	WXS	Illumina GAIIx	Phase_I	Q9Y234	LIPT_HUMAN			4	1208	+			286					Q4ZFZ1	Missense_Mutation	SNP	ENST00000393473.2	37	c.856C>T	CCDS2039.1	.	.	.	.	.	.	.	.	.	.	C	0.189	-1.055289	0.01965	.	.	ENSG00000144182	ENST00000393473;ENST00000393477;ENST00000393474;ENST00000340066;ENST00000393471	.	.	.	4.96	1.11	0.20524	.	0.824023	0.11486	N	0.559243	T	0.35364	0.0929	N	0.22421	0.69	0.09310	N	1	B	0.15930	0.015	B	0.11329	0.006	T	0.30707	-0.9969	9	0.59425	D	0.04	-11.8914	13.367	0.60689	0.4183:0.5817:0.0:0.0	.	286	Q9Y234	LIPT_HUMAN	Y	286	.	ENSP00000342071:H286Y	H	+	1	0	LIPT1	99145708	0.004000	0.15560	0.023000	0.16930	0.031000	0.12232	0.460000	0.21924	0.044000	0.15775	-1.496000	0.00964	CAT		0.328	LIPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253128.1	NM_015929		5	36	5	36	---	---	---	---
GLI2	2736	broad.mit.edu	37	2	121748220	121748220	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr2:121748220A>T	ENST00000452319.1	+	14	4790	c.4730A>T	c.(4729-4731)gAg>gTg	p.E1577V	GLI2_ENST00000361492.4_Missense_Mutation_p.E1577V					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AGCCTCGCCGAGGAGAGCAAG	0.637																																						ENST00000452319.1																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(4729-4731)gAg>gTg		GLI family zinc finger 2							53.0	57.0	56.0					2																	121748220		2203	4300	6503	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121748220A>T		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.4730A>T	2.37:g.121748220A>T	ENSP00000390436:p.Glu1577Val		Somatic				GLI2_ENST00000361492.4_Missense_Mutation_p.E1577V	p.E1577V			WXS	Illumina GAIIx	Phase_I	P10070	GLI2_HUMAN			14	4790	+	Renal(3;0.0496)	Prostate(154;0.0623)	1577						Missense_Mutation	SNP	ENST00000452319.1	37	c.4730A>T	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.959347	0.74016	.	.	ENSG00000074047	ENST00000452319;ENST00000361492	T;T	0.25414	1.8;1.8	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.53417	0.1795	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.59941	-0.7359	10	0.72032	D	0.01	.	14.8465	0.70264	1.0:0.0:0.0:0.0	.	1577;1232	P10070;P10070-2	GLI2_HUMAN;.	V	1577	ENSP00000390436:E1577V;ENSP00000354586:E1577V	ENSP00000354586:E1577V	E	+	2	0	GLI2	121464690	1.000000	0.71417	0.994000	0.49952	0.651000	0.38670	9.139000	0.94554	2.088000	0.63022	0.454000	0.30748	GAG		0.637	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		25	48	25	48	---	---	---	---
NEB	4703	broad.mit.edu	37	2	152486104	152486104	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr2:152486104A>T	ENST00000172853.10	-	64	9198	c.9051T>A	c.(9049-9051)agT>agA	p.S3017R	NEB_ENST00000409198.1_Missense_Mutation_p.S3017R|NEB_ENST00000397345.3_Missense_Mutation_p.S3260R|NEB_ENST00000604864.1_Missense_Mutation_p.S3260R|NEB_ENST00000603639.1_Missense_Mutation_p.S3260R|NEB_ENST00000427231.2_Missense_Mutation_p.S3260R			P20929	NEBU_HUMAN	nebulin	3017					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)		GGATGGCGTCACTTCGCAAGT	0.453																																						ENST00000427231.2																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(9778-9780)agT>agA		nebulin							157.0	159.0	158.0					2																	152486104		1946	4137	6083	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.chr2:152486104A>T	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.9051T>A	2.37:g.152486104A>T	ENSP00000172853:p.Ser3017Arg		Somatic				NEB_ENST00000172853.10_Missense_Mutation_p.S3017R|NEB_ENST00000604864.1_Missense_Mutation_p.S3260R|NEB_ENST00000397345.3_Missense_Mutation_p.S3260R|NEB_ENST00000409198.1_Missense_Mutation_p.S3017R|NEB_ENST00000603639.1_Missense_Mutation_p.S3260R	p.S3260R	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	WXS	Illumina GAIIx	Phase_I	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	68	9982	-			3260					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.9780T>A		.	.	.	.	.	.	.	.	.	.	A	10.41	1.343100	0.24339	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.06068	3.37;3.37;3.35;3.37	6.04	-10.4	0.00318	.	1.181440	0.05765	N	0.605647	T	0.05090	0.0136	L	0.34521	1.04	0.80722	D	1	B	0.23316	0.083	B	0.22386	0.039	T	0.38866	-0.9641	10	0.14656	T	0.56	.	16.2414	0.82409	0.2423:0.0:0.6791:0.0786	.	3017	P20929	NEBU_HUMAN	R	3017;3260;3260;3017	ENSP00000386259:S3017R;ENSP00000380505:S3260R;ENSP00000416578:S3260R;ENSP00000172853:S3017R	ENSP00000172853:S3017R	S	-	3	2	NEB	152194350	0.000000	0.05858	0.001000	0.08648	0.501000	0.33797	-2.303000	0.01135	-2.373000	0.00600	-0.376000	0.06991	AGT		0.453	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		19	54	19	54	---	---	---	---
CCDC148	130940	broad.mit.edu	37	2	159166039	159166039	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr2:159166039G>T	ENST00000283233.5	-	9	1329	c.1016C>A	c.(1015-1017)aCa>aAa	p.T339K	CCDC148_ENST00000409187.1_Missense_Mutation_p.T348K|CCDC148_ENST00000536771.1_Missense_Mutation_p.T253K	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	339										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						CTCAGTGAGTGTCAGCACAGC	0.383																																						ENST00000283233.5																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1015-1017)aCa>aAa		coiled-coil domain containing 148							145.0	139.0	141.0					2																	159166039		2203	4300	6503	SO:0001583	missense	130940							g.chr2:159166039G>T		CCDS33304.1	2q24.1	2007-12-07			ENSG00000153237	ENSG00000153237			25191	protein-coding gene	gene with protein product							Standard	NM_138803		Approved	MGC125588	uc002tzq.3	Q8NFR7	OTTHUMG00000153973	ENST00000283233.5:c.1016C>A	2.37:g.159166039G>T	ENSP00000283233:p.Thr339Lys		Somatic				CCDC148_ENST00000536771.1_Missense_Mutation_p.T253K|CCDC148_ENST00000409187.1_Missense_Mutation_p.T348K	p.T339K	NM_138803.3	NP_620158.3	WXS	Illumina GAIIx	Phase_I	Q8NFR7	CC148_HUMAN			9	1329	-			339					F5H839|Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2	Missense_Mutation	SNP	ENST00000283233.5	37	c.1016C>A	CCDS33304.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.994232	0.74703	.	.	ENSG00000153237	ENST00000283233;ENST00000375617;ENST00000409187;ENST00000536771	T;T;T	0.38401	1.85;1.85;1.14	5.82	5.82	0.92795	.	.	.	.	.	T	0.58192	0.2105	M	0.74881	2.28	0.41047	D	0.985273	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.992;0.992	D;D;D;P;P	0.91635	0.999;0.997;0.997;0.813;0.813	T	0.52668	-0.8545	9	0.09338	T	0.73	-5.6818	17.5868	0.87983	0.0:0.0:1.0:0.0	.	253;187;187;348;339	F5H839;C9JR76;Q8NFR7-2;B8ZZV3;Q8NFR7	.;.;.;.;CC148_HUMAN	K	339;187;348;253	ENSP00000283233:T339K;ENSP00000386674:T348K;ENSP00000443740:T253K	ENSP00000283233:T339K	T	-	2	0	CCDC148	158874285	1.000000	0.71417	0.927000	0.36925	0.670000	0.39368	4.891000	0.63185	2.756000	0.94617	0.561000	0.74099	ACA		0.383	CCDC148-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333270.1	NM_138803		17	20	17	20	---	---	---	---
BAZ2B	29994	broad.mit.edu	37	2	160181377	160181377	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr2:160181377C>T	ENST00000392783.2	-	36	6793	c.6298G>A	c.(6298-6300)Gtt>Att	p.V2100I	BAZ2B_ENST00000355831.2_Missense_Mutation_p.V2066I|BAZ2B_ENST00000343439.5_Missense_Mutation_p.V2000I|BAZ2B_ENST00000392782.1_Missense_Mutation_p.V2064I	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	2100	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTCTTAATAACTTTCTTATAA	0.318																																						ENST00000392783.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						c.(6298-6300)Gtt>Att		bromodomain adjacent to zinc finger domain, 2B							58.0	56.0	56.0					2																	160181377		1798	4058	5856	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160181377C>T	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.6298G>A	2.37:g.160181377C>T	ENSP00000376534:p.Val2100Ile		Somatic				BAZ2B_ENST00000355831.2_Missense_Mutation_p.V2066I|BAZ2B_ENST00000343439.5_Missense_Mutation_p.V2000I|BAZ2B_ENST00000392782.1_Missense_Mutation_p.V2064I	p.V2100I	NM_013450.2	NP_038478.2	WXS	Illumina GAIIx	Phase_I	Q9UIF8	BAZ2B_HUMAN			36	6793	-			2100			Bromo.		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.6298G>A	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	15.19	2.760892	0.49468	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	T;T;T;T	0.26810	1.71;1.71;1.71;1.71	5.48	5.48	0.80851	Bromodomain (6);Bromodomain, conserved site (1);	0.000000	0.33477	U	0.004873	T	0.25975	0.0633	N	0.04655	-0.195	0.58432	D	0.999999	B;D	0.53312	0.354;0.959	B;D	0.64144	0.068;0.922	T	0.07888	-1.0749	10	0.07030	T	0.85	-14.8682	19.7236	0.96153	0.0:1.0:0.0:0.0	.	2064;2100	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	I	2064;2100;2066;2000	ENSP00000376533:V2064I;ENSP00000376534:V2100I;ENSP00000348087:V2066I;ENSP00000339670:V2000I	ENSP00000339670:V2000I	V	-	1	0	BAZ2B	159889623	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.681000	0.68175	2.730000	0.93505	0.655000	0.94253	GTT		0.318	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			20	22	20	22	---	---	---	---
GALNT3	2591	broad.mit.edu	37	2	166621453	166621453	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr2:166621453T>G	ENST00000392701.3	-	3	1404	c.629A>C	c.(628-630)tAt>tCt	p.Y210S		NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	210	Catalytic subdomain A.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						AGGTGAAGAATAGAGCACACT	0.428																																						ENST00000392701.3																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						c.(628-630)tAt>tCt		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)							175.0	161.0	166.0					2																	166621453		2203	4300	6503	SO:0001583	missense	2591				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:166621453T>G		CCDS2226.1	2q24-q31	2014-03-13	2014-03-13		ENSG00000115339	ENSG00000115339	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4125	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 3"""	601756	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)"""			9592121, 15133511	Standard	NM_004482		Approved	GalNAc-T3, HHS, HFTC	uc010fph.1	Q14435	OTTHUMG00000132157	ENST00000392701.3:c.629A>C	2.37:g.166621453T>G	ENSP00000376465:p.Tyr210Ser		Somatic					p.Y210S	NM_004482.3	NP_004473.2	WXS	Illumina GAIIx	Phase_I	Q14435	GALT3_HUMAN			3	1404	-			210			Catalytic subdomain A.		Q53TG9|Q7Z476	Missense_Mutation	SNP	ENST00000392701.3	37	c.629A>C	CCDS2226.1	.	.	.	.	.	.	.	.	.	.	T	11.66	1.703544	0.30232	.	.	ENSG00000115339	ENST00000392701;ENST00000412248	T;T	0.59772	0.24;0.24	5.8	5.8	0.92144	Glycosyl transferase, family 2 (1);	0.062614	0.64402	D	0.000003	T	0.33614	0.0869	N	0.01679	-0.765	0.80722	D	1	B	0.12013	0.005	B	0.17098	0.017	T	0.23797	-1.0178	10	0.46703	T	0.11	.	16.138	0.81502	0.0:0.0:0.0:1.0	.	210	Q14435	GALT3_HUMAN	S	210	ENSP00000376465:Y210S;ENSP00000412643:Y210S	ENSP00000376465:Y210S	Y	-	2	0	GALNT3	166329699	1.000000	0.71417	0.999000	0.59377	0.002000	0.02628	8.036000	0.88901	2.203000	0.70933	0.459000	0.35465	TAT		0.428	GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255205.2	NM_004482		31	62	31	62	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179428723	179428723	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr2:179428723A>C	ENST00000591111.1	-	276	77437	c.77213T>G	c.(77212-77214)gTt>gGt	p.V25738G	TTN_ENST00000342992.6_Missense_Mutation_p.V24811G|TTN_ENST00000589042.1_Missense_Mutation_p.V27379G|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V18506G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V18439G|TTN_ENST00000460472.2_Missense_Mutation_p.V18314G|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25738	Fibronectin type-III 87. {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)			AACTCCAGTAACTTTCAGAGG	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.(82135-82137)gTt>gGt		titin							95.0	92.0	93.0					2																	179428723		1847	4092	5939	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179428723A>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.77213T>G	2.37:g.179428723A>C	ENSP00000465570:p.Val25738Gly		Somatic				TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V25738G|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V18439G|TTN_ENST00000460472.2_Missense_Mutation_p.V18314G|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V18506G|TTN_ENST00000342992.6_Missense_Mutation_p.V24811G|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA	p.V27379G	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	82360	-			25738			Fibronectin type-III 99.		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.82136T>G		.	.	.	.	.	.	.	.	.	.	A	12.51	1.958703	0.34565	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.61158	0.13;0.13;0.13;0.13	6.16	6.16	0.99307	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80706	0.4674	M	0.89715	3.055	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.70487	0.969;0.969;0.969;0.969	D	0.84630	0.0689	9	0.87932	D	0	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	18314;18439;18506;25738	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	G	24811;18314;18506;18439;18312	ENSP00000343764:V24811G;ENSP00000434586:V18314G;ENSP00000340554:V18506G;ENSP00000352154:V18439G	ENSP00000340554:V18506G	V	-	2	0	TTN	179136969	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	9.339000	0.96797	2.367000	0.80283	0.528000	0.53228	GTT		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		20	73	20	73	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196756423	196756423	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr2:196756423C>A	ENST00000312428.6	-	31	5102	c.5002G>T	c.(5002-5004)Gat>Tat	p.D1668Y		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1668	AAA 2. {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						AGGACCCCATCAGACCATTCA	0.378																																						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.(5002-5004)Gat>Tat		dynein, axonemal, heavy chain 7							102.0	95.0	97.0					2																	196756423		1885	4110	5995	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196756423C>A	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.5002G>T	2.37:g.196756423C>A	ENSP00000311273:p.Asp1668Tyr		Somatic					p.D1668Y	NM_018897.2	NP_061720.2	WXS	Illumina GAIIx	Phase_I	Q8WXX0	DYH7_HUMAN			31	5102	-			1668			AAA 2 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.5002G>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.166363	0.57476	.	.	ENSG00000118997	ENST00000312428	D	0.92099	-2.97	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.98071	0.9364	H	0.99347	4.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99334	1.0910	10	0.87932	D	0	.	18.7834	0.91944	0.0:1.0:0.0:0.0	.	1668	Q8WXX0	DYH7_HUMAN	Y	1668	ENSP00000311273:D1668Y	ENSP00000311273:D1668Y	D	-	1	0	DNAH7	196464668	1.000000	0.71417	0.199000	0.23439	0.064000	0.16182	5.761000	0.68801	2.770000	0.95276	0.650000	0.86243	GAT		0.378	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		4	43	4	43	---	---	---	---
LRRC3B	116135	broad.mit.edu	37	3	26751671	26751671	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr3:26751671G>C	ENST00000396641.2	+	2	1100	c.508G>C	c.(508-510)Gtg>Ctg	p.V170L	AC114877.3_ENST00000446601.1_lincRNA|LRRC3B_ENST00000417744.1_Missense_Mutation_p.V170L|LRRC3B_ENST00000456208.2_Missense_Mutation_p.V170L	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	170	LRRCT.					integral component of membrane (GO:0016021)		p.V170M(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						AGCCCACAACGTGATCTGTAA	0.517																																						ENST00000396641.2																			1	Substitution - Missense(1)	p.V170M(1)	endometrium(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						c.(508-510)Gtg>Ctg		leucine rich repeat containing 3B							69.0	57.0	61.0					3																	26751671		2203	4300	6503	SO:0001583	missense	116135					integral to membrane		g.chr3:26751671G>C	AF396933	CCDS2644.1	3p24	2004-07-12			ENSG00000179796	ENSG00000179796			28105	protein-coding gene	gene with protein product							Standard	NM_052953		Approved	LRP15	uc003cdp.3	Q96PB8	OTTHUMG00000130572	ENST00000396641.2:c.508G>C	3.37:g.26751671G>C	ENSP00000379880:p.Val170Leu		Somatic				LRRC3B_ENST00000417744.1_Missense_Mutation_p.V170L|LRRC3B_ENST00000456208.2_Missense_Mutation_p.V170L	p.V170L	NM_052953.2	NP_443185.1	WXS	Illumina GAIIx	Phase_I	Q96PB8	LRC3B_HUMAN			2	1100	+			170			LRRCT.		Q5M8T0	Missense_Mutation	SNP	ENST00000396641.2	37	c.508G>C	CCDS2644.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.786176	0.49997	.	.	ENSG00000179796	ENST00000396641;ENST00000417744;ENST00000456208	D;D;D	0.89681	-2.55;-2.55;-2.55	6.17	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.82811	0.5118	L	0.31752	0.955	0.80722	D	1	B	0.32338	0.365	B	0.28011	0.085	T	0.81835	-0.0750	10	0.49607	T	0.09	-10.847	14.8782	0.70510	0.0683:0.0:0.9317:0.0	.	170	Q96PB8	LRC3B_HUMAN	L	170	ENSP00000379880:V170L;ENSP00000406370:V170L;ENSP00000394940:V170L	ENSP00000379880:V170L	V	+	1	0	LRRC3B	26726675	1.000000	0.71417	0.998000	0.56505	0.783000	0.44284	8.021000	0.88750	1.626000	0.50381	0.655000	0.94253	GTG		0.517	LRRC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252997.2	NM_052953		7	20	7	20	---	---	---	---
CACNA2D3	55799	broad.mit.edu	37	3	54919587	54919587	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr3:54919587T>A	ENST00000474759.1	+	23	2078	c.2030T>A	c.(2029-2031)cTa>cAa	p.L677Q	CACNA2D3_ENST00000490478.1_Missense_Mutation_p.L583Q|CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.L677Q|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.L677Q	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	677						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	AAGCTCTACCTAAAAGGCAAA	0.473																																						ENST00000474759.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59						c.(2029-2031)cTa>cAa		calcium channel, voltage-dependent, alpha 2/delta subunit 3							109.0	103.0	105.0					3																	54919587		2038	4210	6248	SO:0001583	missense	55799					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:54919587T>A	AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.2030T>A	3.37:g.54919587T>A	ENSP00000419101:p.Leu677Gln		Somatic				CACNA2D3_ENST00000288197.5_Missense_Mutation_p.L677Q|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.L677Q|CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.L583Q	p.L677Q	NM_018398.2	NP_060868.2	WXS	Illumina GAIIx	Phase_I	Q8IZS8	CA2D3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	23	2078	+			677					B2RPL6|Q9NY16|Q9NY18	Missense_Mutation	SNP	ENST00000474759.1	37	c.2030T>A	CCDS54598.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.605932	0.87157	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.7	5.7	0.88788	.	0.142734	0.48767	D	0.000180	T	0.59797	0.2220	M	0.88570	2.965	0.48288	D	0.999625	D	0.69078	0.997	D	0.64687	0.928	T	0.66646	-0.5871	10	0.52906	T	0.07	-0.0712	14.5359	0.67960	0.0:0.0:0.0:1.0	.	677	Q8IZS8	CA2D3_HUMAN	Q	677;677;677;583;583	ENSP00000389506:L677Q;ENSP00000419101:L677Q;ENSP00000288197:L677Q;ENSP00000417279:L583Q	ENSP00000288197:L677Q	L	+	2	0	CACNA2D3	54894627	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.698000	0.84413	2.178000	0.69098	0.459000	0.35465	CTA		0.473	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1			10	12	10	12	---	---	---	---
CAMK2N2	94032	broad.mit.edu	37	3	183979033	183979033	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr3:183979033C>A	ENST00000296238.3	-	1	218	c.41G>T	c.(40-42)cGc>cTc	p.R14L	ECE2_ENST00000402825.3_Intron|EIF2B5_ENST00000444495.1_Intron	NM_033259.2	NP_150284.1	Q96S95	CK2N2_HUMAN	calcium/calmodulin-dependent protein kinase II inhibitor 2	14						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium-dependent protein kinase inhibitor activity (GO:0008427)					all_cancers(143;1.09e-10)|Ovarian(172;0.0339)		Epithelial(37;2.51e-33)|OV - Ovarian serous cystadenocarcinoma(80;5.69e-22)			TGCGCCGAAGCGGCCCATCTT	0.736																																						ENST00000296238.3																			0											c.(40-42)cGc>cTc		calcium/calmodulin-dependent protein kinase II inhibitor 2							23.0	25.0	24.0					3																	183979033		2202	4300	6502	SO:0001583	missense	94032					cytosol|nucleus	protein kinase inhibitor activity	g.chr3:183979033C>A	AY037149	CCDS3257.1	3q27.1	2006-03-27			ENSG00000163888	ENSG00000163888			24197	protein-coding gene	gene with protein product		608721				11444830, 9724800	Standard	NM_033259		Approved	CaM-KIIN	uc003fnj.1	Q96S95	OTTHUMG00000156821	ENST00000296238.3:c.41G>T	3.37:g.183979033C>A	ENSP00000296238:p.Arg14Leu		Somatic				EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000402825.3_Intron	p.R14L	NM_033259.2	NP_150284.1	WXS	Illumina GAIIx	Phase_I	Q96S95	CK2N2_HUMAN	Epithelial(37;2.51e-33)|OV - Ovarian serous cystadenocarcinoma(80;5.69e-22)		1	218	-	all_cancers(143;1.09e-10)|Ovarian(172;0.0339)		14						Missense_Mutation	SNP	ENST00000296238.3	37	c.41G>T	CCDS3257.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842017	0.51057	.	.	ENSG00000163888	ENST00000296238	.	.	.	3.91	1.92	0.25849	.	0.139619	0.48767	D	0.000180	T	0.30978	0.0782	.	.	.	0.33109	D	0.540303	B	0.24483	0.104	B	0.27796	0.083	T	0.22977	-1.0201	8	0.38643	T	0.18	0.2219	3.7527	0.08573	0.0:0.5613:0.2056:0.2331	.	14	Q96S95	CK2N2_HUMAN	L	14	.	ENSP00000296238:R14L	R	-	2	0	CAMK2N2	185461727	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.349000	0.44054	0.626000	0.30322	0.563000	0.77884	CGC		0.736	CAMK2N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346010.1	NM_033259		3	23	3	23	---	---	---	---
GP5	2814	broad.mit.edu	37	3	194117793	194117793	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr3:194117793A>C	ENST00000401815.1	-	1	1290	c.1219T>G	c.(1219-1221)Ttt>Gtt	p.F407V	GP5_ENST00000323007.3_Missense_Mutation_p.F407V			P40197	GPV_HUMAN	glycoprotein V (platelet)	407					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|negative regulation of platelet activation (GO:0010544)|platelet activation (GO:0030168)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		AGAGCCCCAAACACGTCGCCA	0.697																																						ENST00000401815.1																			0				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35						c.(1219-1221)Ttt>Gtt		glycoprotein V (platelet)							12.0	15.0	14.0					3																	194117793		2179	4268	6447	SO:0001583	missense	2814				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane		g.chr3:194117793A>C	L11238	CCDS3307.1	3q29	2008-02-01			ENSG00000178732	ENSG00000178732		"""CD molecules"""	4443	protein-coding gene	gene with protein product		173511				7690959	Standard	NM_004488		Approved	CD42d	uc003ftv.1	P40197	OTTHUMG00000150345	ENST00000401815.1:c.1219T>G	3.37:g.194117793A>C	ENSP00000383931:p.Phe407Val		Somatic				GP5_ENST00000323007.3_Missense_Mutation_p.F407V	p.F407V			WXS	Illumina GAIIx	Phase_I	P40197	GPV_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)	1	1290	-	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	407					D1MER9	Missense_Mutation	SNP	ENST00000401815.1	37	c.1219T>G	CCDS3307.1	.	.	.	.	.	.	.	.	.	.	A	16.22	3.061848	0.55432	.	.	ENSG00000178732	ENST00000401815;ENST00000323007	T;T	0.70164	-0.46;-0.46	3.76	3.76	0.43208	.	0.000000	0.40818	N	0.001016	D	0.87237	0.6127	H	0.98048	4.135	0.09310	N	1	D	0.76494	0.999	D	0.72982	0.979	T	0.81362	-0.0967	10	0.56958	D	0.05	.	13.1502	0.59484	1.0:0.0:0.0:0.0	.	407	P40197	GPV_HUMAN	V	407	ENSP00000383931:F407V;ENSP00000319286:F407V	ENSP00000319286:F407V	F	-	1	0	GP5	195599082	0.967000	0.33354	0.040000	0.18447	0.687000	0.40016	3.019000	0.49635	1.658000	0.50742	0.397000	0.26171	TTT		0.697	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317710.1	NM_004488		4	7	4	7	---	---	---	---
TACR3	6870	broad.mit.edu	37	4	104577479	104577479	+	Silent	SNP	G	G	A			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr4:104577479G>A	ENST00000304883.2	-	3	900	c.760C>T	c.(760-762)Ctg>Ttg	p.L254L		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	254					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)		CAGTACACCAGTATAATGACG	0.378																																						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.(760-762)Ctg>Ttg		tachykinin receptor 3							100.0	97.0	98.0					4																	104577479		2203	4300	6503	SO:0001819	synonymous_variant	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104577479G>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.760C>T	4.37:g.104577479G>A			Somatic					p.L254L	NM_001059.2	NP_001050.1	WXS	Illumina GAIIx	Phase_I	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	3	900	-		Hepatocellular(203;0.217)	254					Q0P510	Silent	SNP	ENST00000304883.2	37	c.760C>T	CCDS3664.1																																																																																				0.378	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		24	46	24	46	---	---	---	---
IL21	59067	broad.mit.edu	37	4	123534028	123534028	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr4:123534028C>T	ENST00000264497.3	-	4	473	c.416G>A	c.(415-417)aGa>aAa	p.R139K		NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21	132					cell maturation (GO:0048469)|immune response (GO:0006955)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	cytokine receptor binding (GO:0005126)|interleukin-2 receptor binding (GO:0005134)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						TGATTTGAATCTTTCTAGGAA	0.313																																						ENST00000264497.3																			0				NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						c.(415-417)aGa>aAa		interleukin 21							85.0	92.0	90.0					4																	123534028		2203	4300	6503	SO:0001583	missense	59067				cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding	g.chr4:123534028C>T	AF254069	CCDS3727.1, CCDS75189.1	4q26-q27	2011-07-15			ENSG00000138684	ENSG00000138684		"""Interleukins and interleukin receptors"""	6005	protein-coding gene	gene with protein product		605384				11081504, 17947662	Standard	NM_001207006		Approved	Za11, IL-21	uc003ies.3	Q9HBE4	OTTHUMG00000133073	ENST00000264497.3:c.416G>A	4.37:g.123534028C>T	ENSP00000264497:p.Arg139Lys		Somatic					p.R139K	NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	WXS	Illumina GAIIx	Phase_I	Q9HBE4	IL21_HUMAN			4	473	-			132					A5J0L4	Missense_Mutation	SNP	ENST00000264497.3	37	c.416G>A	CCDS3727.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190939	0.58017	.	.	ENSG00000138684	ENST00000264497	.	.	.	4.81	3.09	0.35607	.	0.333481	0.25581	N	0.029691	T	0.55033	0.1895	M	0.62723	1.935	0.31821	N	0.625987	P;B	0.35456	0.502;0.372	B;P	0.46850	0.394;0.529	T	0.57323	-0.7831	9	0.22706	T	0.39	-4.6511	8.1838	0.31326	0.0:0.8123:0.0:0.1877	.	132;132	Q9HBE4-2;Q9HBE4	.;IL21_HUMAN	K	139	.	ENSP00000264497:R139K	R	-	2	0	IL21	123753478	1.000000	0.71417	0.776000	0.31678	0.976000	0.68499	2.410000	0.44592	0.459000	0.27016	0.467000	0.42956	AGA		0.313	IL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256713.1	NM_021803		11	12	11	12	---	---	---	---
KLHL2	11275	broad.mit.edu	37	4	166238998	166238998	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr4:166238998C>G	ENST00000226725.6	+	14	1889	c.1630C>G	c.(1630-1632)Ctg>Gtg	p.L544V	KLHL2_ENST00000538127.1_Missense_Mutation_p.L456V|KLHL2_ENST00000514860.1_Missense_Mutation_p.L548V|KLHL2_ENST00000421009.2_Missense_Mutation_p.L447V|KLHL2_ENST00000506761.1_Missense_Mutation_p.L378V|KLHL2_ENST00000509028.1_3'UTR	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	544					protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		AGTTAATGGTCTGTTATATGT	0.348																																						ENST00000226725.6																			0				endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14						c.(1630-1632)Ctg>Gtg		kelch-like family member 2							157.0	152.0	154.0					4																	166238998		2203	4300	6503	SO:0001583	missense	11275				intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity	g.chr4:166238998C>G	AF059569	CCDS34094.1, CCDS54815.1, CCDS54816.1	4q21.2	2013-01-30	2013-01-30		ENSG00000109466	ENSG00000109466		"""Kelch-like"", ""BTB/POZ domain containing"""	6353	protein-coding gene	gene with protein product	"""mayven"""	605774	"""kelch (Drosophila)-like 2 (Mayven)"", ""kelch-like 2, Mayven (Drosophila)"""			10397770, 16035103	Standard	NM_007246		Approved	MAV	uc011cjm.2	O95198	OTTHUMG00000161294	ENST00000226725.6:c.1630C>G	4.37:g.166238998C>G	ENSP00000226725:p.Leu544Val		Somatic				KLHL2_ENST00000538127.1_Missense_Mutation_p.L456V|KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000506761.1_Missense_Mutation_p.L378V|KLHL2_ENST00000421009.2_Missense_Mutation_p.L447V|KLHL2_ENST00000514860.1_Missense_Mutation_p.L548V	p.L544V	NM_007246.3	NP_009177.3	WXS	Illumina GAIIx	Phase_I	O95198	KLHL2_HUMAN		GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)	14	1889	+	all_hematologic(180;0.221)		544					A6NCM7|B2RD18|B4DFH7|F5H6M3|Q8N484|Q8TBH5	Missense_Mutation	SNP	ENST00000226725.6	37	c.1630C>G	CCDS34094.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.761977	0.31228	.	.	ENSG00000109466	ENST00000226725;ENST00000514860;ENST00000538127;ENST00000421009;ENST00000506761	T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11	6.17	4.45	0.53987	Galactose oxidase, beta-propeller (1);	0.152097	0.45126	D	0.000393	T	0.73079	0.3541	L	0.53249	1.67	0.58432	D	0.999999	B;B;B	0.17667	0.013;0.006;0.023	B;B;B	0.31016	0.086;0.044;0.123	T	0.71974	-0.4430	10	0.72032	D	0.01	.	7.3339	0.26599	0.1377:0.7253:0.0:0.137	.	548;544;544	B4DFH7;B2RD18;O95198	.;.;KLHL2_HUMAN	V	544;548;456;447;378	ENSP00000226725:L544V;ENSP00000424198:L548V;ENSP00000437526:L456V;ENSP00000408974:L447V;ENSP00000424108:L378V	ENSP00000226725:L544V	L	+	1	2	KLHL2	166458448	0.157000	0.22836	1.000000	0.80357	0.998000	0.95712	0.515000	0.22801	1.631000	0.50456	0.655000	0.94253	CTG		0.348	KLHL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364439.1			4	82	4	82	---	---	---	---
IQGAP2	10788	broad.mit.edu	37	5	76003079	76003079	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr5:76003079G>C	ENST00000274364.6	+	36	4966	c.4669G>C	c.(4669-4671)Gtt>Ctt	p.V1557L	CTD-2384B11.2_ENST00000507514.1_RNA|IQGAP2_ENST00000396234.3_Missense_Mutation_p.V1053L|IQGAP2_ENST00000502745.1_Missense_Mutation_p.V1053L|IQGAP2_ENST00000508410.1_3'UTR|IQGAP2_ENST00000379730.3_Missense_Mutation_p.V1059L	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1557					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GTTTGATAAGGTTAAAGTGAA	0.323																																						ENST00000274364.6																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(4669-4671)Gtt>Ctt		IQ motif containing GTPase activating protein 2							89.0	89.0	89.0					5																	76003079		2203	4299	6502	SO:0001583	missense	10788				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	g.chr5:76003079G>C	U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.4669G>C	5.37:g.76003079G>C	ENSP00000274364:p.Val1557Leu		Somatic				IQGAP2_ENST00000502745.1_Missense_Mutation_p.V1053L|IQGAP2_ENST00000396234.3_Missense_Mutation_p.V1053L|IQGAP2_ENST00000508410.1_3'UTR|CTD-2384B11.2_ENST00000507514.1_RNA|IQGAP2_ENST00000379730.3_Missense_Mutation_p.V1059L	p.V1557L	NM_006633.2	NP_006624	WXS	Illumina GAIIx	Phase_I	Q13576	IQGA2_HUMAN		all cancers(79;1.38e-36)	36	4966	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)	1557					A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	ENST00000274364.6	37	c.4669G>C	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841619	0.71488	.	.	ENSG00000145703	ENST00000274364;ENST00000379730;ENST00000396234;ENST00000502745	T;T;T;T	0.03065	4.21;4.06;4.06;4.06	5.33	5.33	0.75918	.	0.110239	0.64402	D	0.000010	T	0.04227	0.0117	N	0.17594	0.5	0.49213	D	0.999768	P;P;B	0.35481	0.504;0.504;0.208	B;B;B	0.38755	0.281;0.281;0.101	T	0.61019	-0.7147	10	0.23891	T	0.37	-24.3097	19.3576	0.94421	0.0:0.0:1.0:0.0	.	1059;1053;1557	F5H7S7;Q13576-2;Q13576	.;.;IQGA2_HUMAN	L	1557;1059;1053;1053	ENSP00000274364:V1557L;ENSP00000442313:V1059L;ENSP00000379535:V1053L;ENSP00000426027:V1053L	ENSP00000274364:V1557L	V	+	1	0	IQGAP2	76038835	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	9.813000	0.99286	2.657000	0.90304	0.591000	0.81541	GTT		0.323	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		13	23	13	23	---	---	---	---
CYFIP2	26999	broad.mit.edu	37	5	156734848	156734848	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr5:156734848T>G	ENST00000521420.1	+	8	888	c.797T>G	c.(796-798)cTt>cGt	p.L266R	CYFIP2_ENST00000377576.3_Missense_Mutation_p.L292R|CYFIP2_ENST00000522463.1_Missense_Mutation_p.L96R|CYFIP2_ENST00000347377.6_Missense_Mutation_p.L292R|CYFIP2_ENST00000318218.6_Missense_Mutation_p.L292R|CYFIP2_ENST00000541131.1_Missense_Mutation_p.L217R|CYFIP2_ENST00000442283.2_5'UTR					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)			AGAATTAATCTTAGCAAAATT	0.463																																						ENST00000347377.6																			0				breast(1)|endometrium(12)|kidney(2)|lung(23)	38						c.(874-876)cTt>cGt		cytoplasmic FMR1 interacting protein 2							55.0	51.0	52.0					5																	156734848		1835	4084	5919	SO:0001583	missense	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156734848T>G	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.797T>G	5.37:g.156734848T>G	ENSP00000430904:p.Leu266Arg		Somatic				CYFIP2_ENST00000541131.1_Missense_Mutation_p.L217R|CYFIP2_ENST00000522463.1_Missense_Mutation_p.L96R|CYFIP2_ENST00000377576.3_Missense_Mutation_p.L292R|CYFIP2_ENST00000318218.6_Missense_Mutation_p.L292R|CYFIP2_ENST00000521420.1_Missense_Mutation_p.L266R|CYFIP2_ENST00000442283.2_5'UTR	p.L292R	NM_001037332.2	NP_001032409.2	WXS	Illumina GAIIx	Phase_I	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		9	1306	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	292						Missense_Mutation	SNP	ENST00000521420.1	37	c.875T>G		.	.	.	.	.	.	.	.	.	.	T	28.6	4.931074	0.92389	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131	T;T;T;T;T;T	0.44083	0.93;1.87;0.93;0.93;0.93;0.93	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.62011	0.2393	M	0.65975	2.015	0.80722	D	1	D;D;D;D;D;D	0.64830	0.966;0.977;0.96;0.981;0.994;0.98	D;P;P;P;D;D	0.66497	0.932;0.905;0.779;0.77;0.935;0.944	T	0.65990	-0.6034	10	0.87932	D	0	-17.5668	15.6034	0.76642	0.0:0.0:0.0:1.0	.	156;96;266;292;292;292	A8MUM2;E7EW33;E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.;.;.;.;.;CYFP2_HUMAN	R	292;96;266;292;292;217	ENSP00000325817:L292R;ENSP00000428009:L96R;ENSP00000430904:L266R;ENSP00000313567:L292R;ENSP00000366799:L292R;ENSP00000444645:L217R	ENSP00000325817:L292R	L	+	2	0	CYFIP2	156667426	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.997000	0.88414	2.094000	0.63399	0.459000	0.35465	CTT		0.463	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		3	11	3	11	---	---	---	---
CDYL	9425	broad.mit.edu	37	6	4935754	4935754	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr6:4935754T>C	ENST00000328908.5	+	5	990	c.859T>C	c.(859-861)Tct>Cct	p.S287P	CDYL_ENST00000397588.3_Missense_Mutation_p.S233P|CDYL_ENST00000472453.1_3'UTR|CDYL_ENST00000449732.2_Missense_Mutation_p.S101P|CDYL_ENST00000343762.5_Missense_Mutation_p.S101P			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	287	Interaction with EZH2.				regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		GGCAGGTACATCTCCGTTCAT	0.438																																						ENST00000328908.5																			0				breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30						c.(859-861)Tct>Cct		chromodomain protein, Y-like							59.0	55.0	56.0					6																	4935754		2203	4300	6503	SO:0001583	missense	9425				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity	g.chr6:4935754T>C	AF081258	CCDS4491.2, CCDS47364.1	6p25.1	2010-05-04	2003-09-12		ENSG00000153046	ENSG00000153046			1811	protein-coding gene	gene with protein product	"""CDY-like, autosomal"", ""testis-specific chromodomain Y-like protein"""	603778	"""chromodomain protein, Y chromosome-like"""			10192397	Standard	NM_001143970		Approved	DKFZP586C1622, CDYL1	uc003mwj.3	Q9Y232	OTTHUMG00000014170	ENST00000328908.5:c.859T>C	6.37:g.4935754T>C	ENSP00000330512:p.Ser287Pro		Somatic				CDYL_ENST00000343762.5_Missense_Mutation_p.S101P|CDYL_ENST00000472453.1_3'UTR|CDYL_ENST00000397588.3_Missense_Mutation_p.S233P|CDYL_ENST00000449732.2_Missense_Mutation_p.S101P	p.S287P			WXS	Illumina GAIIx	Phase_I	Q9Y232	CDYL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.182)	5	990	+	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)	287					A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424	Missense_Mutation	SNP	ENST00000328908.5	37	c.859T>C		.	.	.	.	.	.	.	.	.	.	T	15.78	2.933118	0.52866	.	.	ENSG00000153046	ENST00000328908;ENST00000440139;ENST00000397588;ENST00000449732;ENST00000343762	T;T;T;T	0.57752	0.76;0.38;0.38;0.38	6.07	6.07	0.98685	.	0.268407	0.36893	N	0.002347	T	0.34716	0.0907	L	0.57536	1.79	0.58432	D	0.999999	B;B	0.14012	0.004;0.009	B;B	0.09377	0.004;0.004	T	0.32295	-0.9912	10	0.48119	T	0.1	.	11.644	0.51250	0.0:0.0704:0.0:0.9296	.	233;287	Q9Y232-2;Q9Y232	.;CDYL1_HUMAN	P	287;13;233;101;101	ENSP00000330512:S287P;ENSP00000380718:S233P;ENSP00000394076:S101P;ENSP00000340908:S101P	ENSP00000330512:S287P	S	+	1	0	CDYL	4880753	1.000000	0.71417	0.877000	0.34402	0.964000	0.63967	3.324000	0.52022	2.326000	0.78906	0.533000	0.62120	TCT		0.438	CDYL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000039736.1	NM_004824		19	58	19	58	---	---	---	---
DSP	1832	broad.mit.edu	37	6	7583503	7583503	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr6:7583503A>G	ENST00000379802.3	+	24	6349	c.6008A>G	c.(6007-6009)gAa>gGa	p.E2003G	DSP_ENST00000418664.2_Missense_Mutation_p.E1404G	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2003	4.5 X 38 AA tandem repeats (Domain A).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TCAGTGGAAGAAGTTGCTTCT	0.478																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(6007-6009)gAa>gGa		desmoplakin							77.0	83.0	81.0					6																	7583503		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7583503A>G	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.6008A>G	6.37:g.7583503A>G	ENSP00000369129:p.Glu2003Gly		Somatic				DSP_ENST00000418664.2_Missense_Mutation_p.E1404G	p.E2003G	NM_004415.2	NP_004406.2	WXS	Illumina GAIIx	Phase_I	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	6349	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	2003			Globular 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.6008A>G	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.016078	0.75161	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.71222	-0.55;-0.55	4.99	4.99	0.66335	.	0.000000	0.64402	D	0.000016	T	0.80819	0.4696	M	0.81682	2.555	0.39883	D	0.973664	D;B	0.89917	1.0;0.384	D;B	0.71414	0.973;0.07	D	0.84531	0.0633	10	0.72032	D	0.01	.	14.9779	0.71289	1.0:0.0:0.0:0.0	.	1451;2003	Q4LE79;P15924	.;DESP_HUMAN	G	2003;1404	ENSP00000369129:E2003G;ENSP00000396591:E1404G	ENSP00000369129:E2003G	E	+	2	0	DSP	7528502	1.000000	0.71417	0.991000	0.47740	0.993000	0.82548	9.213000	0.95133	1.984000	0.57885	0.533000	0.62120	GAA		0.478	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		25	36	25	36	---	---	---	---
EPHA7	2045	broad.mit.edu	37	6	93953242	93953242	+	Missense_Mutation	SNP	C	C	T	rs560174275		TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr6:93953242C>T	ENST00000369303.4	-	17	3083	c.2899G>A	c.(2899-2901)Ggg>Agg	p.G967R		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	967	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		AGTGTGATCCCTAAACTCATC	0.353													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19806	0.0		0.0	False		,,,				2504	0.0					ENST00000369303.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112						c.(2899-2901)Ggg>Agg		EPH receptor A7							234.0	196.0	209.0					6																	93953242		2203	4300	6503	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:93953242C>T	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.2899G>A	6.37:g.93953242C>T	ENSP00000358309:p.Gly967Arg		Somatic					p.G967R	NM_004440.3	NP_004431.1	WXS	Illumina GAIIx	Phase_I	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	17	3083	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	967			SAM.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.2899G>A	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.603440	0.66445	.	.	ENSG00000135333	ENST00000369303	T	0.63096	-0.02	5.79	5.79	0.91817	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.000000	0.85682	D	0.000000	D	0.84915	0.5578	H	0.95470	3.675	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.97110	0.929;1.0;1.0	D	0.88563	0.3124	10	0.87932	D	0	.	20.0368	0.97565	0.0:1.0:0.0:0.0	.	963;962;967	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	R	967	ENSP00000358309:G967R	ENSP00000358309:G967R	G	-	1	0	EPHA7	94009963	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.727000	0.93392	0.591000	0.81541	GGG		0.353	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			8	67	8	67	---	---	---	---
STEAP1B	256227	broad.mit.edu	37	7	22533125	22533125	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr7:22533125C>T	ENST00000406890.2	-	3	452	c.358G>A	c.(358-360)Gtc>Atc	p.V120I	STEAP1B_ENST00000404369.4_Missense_Mutation_p.V139I	NM_207342.2	NP_997225.1	Q6NZ63	STEAL_HUMAN	STEAP family member 1B	120						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|lung(2)	4						TGAACTTGGACAATTGCTGCT	0.383																																						ENST00000404369.4																			0				endometrium(1)|kidney(1)|lung(2)	4						c.(415-417)Gtc>Atc		STEAP family member 1B							187.0	155.0	165.0					7																	22533125		692	1591	2283	SO:0001583	missense	256227					integral to membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:22533125C>T		CCDS55094.1, CCDS56469.1	7p15.3	2011-05-19			ENSG00000105889	ENSG00000105889			41907	protein-coding gene	gene with protein product							Standard	NM_207342		Approved		uc010kum.2	Q6NZ63	OTTHUMG00000152529	ENST00000406890.2:c.358G>A	7.37:g.22533125C>T	ENSP00000385239:p.Val120Ile		Somatic				STEAP1B_ENST00000406890.2_Missense_Mutation_p.V120I	p.V139I	NM_001164460.1	NP_001157932.1	WXS	Illumina GAIIx	Phase_I	Q6NZ63	STEAL_HUMAN			3	830	-			120					B5MCI2	Missense_Mutation	SNP	ENST00000406890.2	37	c.415G>A	CCDS55094.1	.	.	.	.	.	.	.	.	.	.	c	0.807	-0.753363	0.03041	.	.	ENSG00000105889	ENST00000406890;ENST00000404369;ENST00000424363;ENST00000439708	D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62	1.06	0.111	0.14619	Flavoprotein transmembrane component (1);	0.357036	0.19013	U	0.125033	T	0.77157	0.4089	N	0.24115	0.695	0.09310	N	1	B;B	0.26935	0.164;0.004	B;B	0.19946	0.027;0.007	T	0.61657	-0.7018	10	0.23891	T	0.37	-4.1691	1.8792	0.03225	0.3189:0.451:0.0:0.2301	.	139;120	B5MCI2;Q6NZ63	.;STEAL_HUMAN	I	120;139;139;139	ENSP00000385239:V120I;ENSP00000384370:V139I;ENSP00000416608:V139I;ENSP00000408954:V139I	ENSP00000384370:V139I	V	-	1	0	STEAP1B	22499650	0.997000	0.39634	0.905000	0.35620	0.125000	0.20455	3.485000	0.53208	0.044000	0.15775	0.121000	0.15741	GTC		0.383	STEAP1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326617.2			5	64	5	64	---	---	---	---
FAM188B	84182	broad.mit.edu	37	7	30821758	30821758	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr7:30821758G>C	ENST00000265299.6	+	3	426	c.349G>C	c.(349-351)Gta>Cta	p.V117L	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	117										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GACTACACTGGTAAATATATA	0.373																																						ENST00000265299.6																			0				endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(349-351)Gta>Cta		family with sequence similarity 188, member B							85.0	74.0	77.0					7																	30821758		1889	4126	6015	SO:0001583	missense	84182							g.chr7:30821758G>C	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 67"""	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.349G>C	7.37:g.30821758G>C	ENSP00000265299:p.Val117Leu		Somatic				INMT-FAM188B_ENST00000458257.1_3'UTR	p.V117L	NM_032222.2	NP_115598.2	WXS	Illumina GAIIx	Phase_I	Q4G0A6	F188B_HUMAN			3	426	+			117					Q71AZ7|Q9H6D2	Missense_Mutation	SNP	ENST00000265299.6	37	c.349G>C	CCDS43565.1	.	.	.	.	.	.	.	.	.	.	G	9.954	1.221029	0.22457	.	.	ENSG00000106125	ENST00000265299	T	0.26067	1.76	4.64	2.83	0.33086	.	0.336929	0.28853	N	0.013925	T	0.22437	0.0541	M	0.68317	2.08	0.22342	N	0.999181	P	0.35272	0.493	B	0.28991	0.097	T	0.26018	-1.0115	10	0.87932	D	0	-0.4326	6.6888	0.23160	0.2086:0.0:0.7914:0.0	.	117	Q4G0A6	F188B_HUMAN	L	117	ENSP00000265299:V117L	ENSP00000265299:V117L	V	+	1	0	FAM188B	30788283	0.819000	0.29175	0.922000	0.36590	0.862000	0.49288	1.006000	0.29847	1.324000	0.45282	-0.215000	0.12644	GTA		0.373	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	NM_032222		19	48	19	48	---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61734470	61734470	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr8:61734470C>T	ENST00000423902.2	+	10	3298	c.2819C>T	c.(2818-2820)cCg>cTg	p.P940L	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Missense_Mutation_p.P940L	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	940	Chromo 2. {ECO:0000255|PROSITE- ProRule:PRU00053}.				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)			TCCAGGGAGCCGGAAACAGAG	0.443																																						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.(2818-2820)cCg>cTg		chromodomain helicase DNA binding protein 7							73.0	72.0	72.0					8																	61734470		1915	4140	6055	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.chr8:61734470C>T	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.2819C>T	8.37:g.61734470C>T	ENSP00000392028:p.Pro940Leu		Somatic				CHD7_ENST00000525508.1_Missense_Mutation_p.P940L|CHD7_ENST00000524602.1_Intron	p.P940L	NM_017780.3	NP_060250.2	WXS	Illumina GAIIx	Phase_I	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		10	3298	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	940			Chromo 2.		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.2819C>T	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.600544	0.66332	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000525508	D;D	0.92495	-3.05;-3.05	5.53	5.53	0.82687	Chromo domain/shadow (1);	0.000000	0.85682	D	0.000000	D	0.94374	0.8191	M	0.89095	3.005	0.80722	D	1	B;B	0.34264	0.016;0.446	B;B	0.38106	0.006;0.265	D	0.94375	0.7599	10	0.87932	D	0	-16.0778	19.8195	0.96586	0.0:1.0:0.0:0.0	.	940;940	Q9P2D1-2;Q9P2D1	.;CHD7_HUMAN	L	940	ENSP00000392028:P940L;ENSP00000436027:P940L	ENSP00000307304:P940L	P	+	2	0	CHD7	61897024	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.713000	0.68415	2.756000	0.94617	0.655000	0.94253	CCG		0.443	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		6	14	6	14	---	---	---	---
KCNV1	27012	broad.mit.edu	37	8	110980473	110980473	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr8:110980473T>A	ENST00000524391.1	-	4	2379	c.1347A>T	c.(1345-1347)gaA>gaT	p.E449D	KCNV1_ENST00000297404.1_Missense_Mutation_p.E449D			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	449					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			TCTTTAGGGCTTCACGCTGTC	0.438																																						ENST00000524391.1																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1345-1347)gaA>gaT		potassium channel, subfamily V, member 1							107.0	103.0	104.0					8																	110980473		2203	4300	6503	SO:0001583	missense	27012					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr8:110980473T>A	AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.1347A>T	8.37:g.110980473T>A	ENSP00000435954:p.Glu449Asp		Somatic				KCNV1_ENST00000297404.1_Missense_Mutation_p.E449D	p.E449D			WXS	Illumina GAIIx	Phase_I	Q6PIU1	KCNV1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)		4	2379	-	all_neural(195;0.219)		449					Q9UHJ4	Missense_Mutation	SNP	ENST00000524391.1	37	c.1347A>T	CCDS6314.1	.	.	.	.	.	.	.	.	.	.	T	18.34	3.601687	0.66445	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	D;D	0.97665	-4.48;-4.48	5.65	3.31	0.37934	.	0.117157	0.64402	D	0.000020	D	0.94218	0.8144	N	0.24115	0.695	0.48762	D	0.999708	D	0.61080	0.989	P	0.52343	0.696	D	0.90296	0.4326	10	0.23891	T	0.37	.	8.8194	0.35016	0.0:0.143:0.0:0.857	.	449	Q6PIU1	KCNV1_HUMAN	D	449;449;325	ENSP00000435954:E449D;ENSP00000297404:E449D	ENSP00000297404:E449D	E	-	3	2	KCNV1	111049649	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	1.644000	0.37228	0.434000	0.26340	0.533000	0.62120	GAA		0.438	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1	NM_014379		13	69	13	69	---	---	---	---
FAM83A	84985	broad.mit.edu	37	8	124195408	124195408	+	Silent	SNP	C	C	A			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr8:124195408C>A	ENST00000518448.1	+	2	2326	c.312C>A	c.(310-312)acC>acA	p.T104T	FAM83A_ENST00000318462.6_Silent_p.T104T|RP11-539E17.5_ENST00000522383.1_RNA|FAM83A_ENST00000546351.1_Silent_p.T104T|FAM83A_ENST00000276699.6_Silent_p.T104T|FAM83A_ENST00000522648.1_Silent_p.T104T|U3_ENST00000408534.1_RNA|FAM83A_ENST00000536633.1_Silent_p.T104T			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	104										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			AGTCCGGCACCTACTTCCCTG	0.662																																						ENST00000518448.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17						c.(310-312)acC>acA		family with sequence similarity 83, member A							60.0	63.0	62.0					8																	124195408		2203	4300	6503	SO:0001819	synonymous_variant	84985							g.chr8:124195408C>A	BC052300	CCDS6339.1, CCDS6340.1, CCDS75784.1	8q24.13	2014-03-13			ENSG00000147689	ENSG00000147689			28210	protein-coding gene	gene with protein product						22886303	Standard	XM_005251087		Approved	MGC14128, BJ-TSA-9	uc003ypx.3	Q86UY5	OTTHUMG00000165083	ENST00000518448.1:c.312C>A	8.37:g.124195408C>A			Somatic				FAM83A_ENST00000546351.1_Silent_p.T104T|FAM83A_ENST00000522648.1_Silent_p.T104T|FAM83A_ENST00000276699.6_Silent_p.T104T|FAM83A_ENST00000536633.1_Silent_p.T104T|FAM83A_ENST00000318462.6_Silent_p.T104T	p.T104T			WXS	Illumina GAIIx	Phase_I	Q86UY5	FA83A_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		2	2326	+	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		104					Q71HL2|Q8N7I1|Q96I47	Silent	SNP	ENST00000518448.1	37	c.312C>A	CCDS6340.1																																																																																				0.662	FAM83A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381737.1	NM_032899		33	130	33	130	---	---	---	---
OC90	729330	broad.mit.edu	37	8	133036907	133036907	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr8:133036907G>T	ENST00000443356.2	-	15	1389	c.1303C>A	c.(1303-1305)Cct>Act	p.P435T	OC90_ENST00000254627.3_Missense_Mutation_p.P419T|OC90_ENST00000262283.5_Missense_Mutation_p.P631T|OC90_ENST00000603859.1_Missense_Mutation_p.P419T			Q02509	OC90_HUMAN	otoconin 90	435	Phospholipase A2-like 3.				lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GGCTGCCCAGGGCACCCGAGT	0.632																																						ENST00000262283.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37						c.(1891-1893)Cct>Act		otoconin 90							17.0	23.0	21.0					8																	133036907		2036	4173	6209	SO:0001583	missense	729330				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	g.chr8:133036907G>T	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.1303C>A	8.37:g.133036907G>T	ENSP00000390050:p.Pro435Thr		Somatic				OC90_ENST00000603859.1_Missense_Mutation_p.P419T|OC90_ENST00000254627.3_Missense_Mutation_p.P419T|OC90_ENST00000443356.2_Missense_Mutation_p.P435T	p.P631T			WXS	Illumina GAIIx	Phase_I	Q02509	OC90_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)		18	1990	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		435					B4DNG8	Missense_Mutation	SNP	ENST00000443356.2	37	c.1891C>A		.	.	.	.	.	.	.	.	.	.	G	9.878	1.200822	0.22121	.	.	ENSG00000253117;ENSG00000253117;ENSG00000258417	ENST00000254627;ENST00000443356;ENST00000262283	T;T;T	0.28454	1.63;1.63;1.61	5.85	4.0	0.46444	Phospholipase A2 (3);	0.813791	0.11143	N	0.595088	T	0.18635	0.0447	N	0.08118	0	0.25251	N	0.989674	B;B	0.24368	0.1;0.102	B;B	0.31191	0.125;0.059	T	0.33954	-0.9848	10	0.26408	T	0.33	0.0192	10.3427	0.43889	0.0:0.1467:0.7007:0.1526	.	419;435	Q02509-2;Q02509	.;OC90_HUMAN	T	419;435;631	ENSP00000254627:P419T;ENSP00000390050:P435T;ENSP00000262283:P631T	ENSP00000254627:P419T	P	-	1	0	RP11-240B13.2;OC90	133106089	1.000000	0.71417	0.943000	0.38184	0.008000	0.06430	5.145000	0.64839	0.756000	0.33013	0.655000	0.94253	CCT		0.632	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399		13	27	13	27	---	---	---	---
BNC2	54796	broad.mit.edu	37	9	16419581	16419581	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr9:16419581G>C	ENST00000380672.4	-	7	2763	c.2706C>G	c.(2704-2706)gaC>gaG	p.D902E	BNC2_ENST00000545497.1_Missense_Mutation_p.D807E|BNC2_ENST00000380667.2_Missense_Mutation_p.D835E	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GCTGCGACGAGTCCAGGCCCA	0.532																																						ENST00000380672.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60						c.(2704-2706)gaC>gaG		basonuclin 2							81.0	87.0	85.0					9																	16419581		2203	4300	6503	SO:0001583	missense	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16419581G>C	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.2706C>G	9.37:g.16419581G>C	ENSP00000370047:p.Asp902Glu		Somatic				BNC2_ENST00000380667.2_Missense_Mutation_p.D835E|BNC2_ENST00000545497.1_Missense_Mutation_p.D807E	p.D902E	NM_017637.5	NP_060107.3	WXS	Illumina GAIIx	Phase_I	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	7	2763	-			902						Missense_Mutation	SNP	ENST00000380672.4	37	c.2706C>G	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	G	11.29	1.594307	0.28445	.	.	ENSG00000173068	ENST00000380672;ENST00000380667;ENST00000545497	T;T;T	0.31247	1.5;1.52;1.51	5.59	3.76	0.43208	.	0.000000	0.85682	D	0.000000	T	0.23249	0.0562	L	0.55990	1.75	0.80722	D	1	B;B;B	0.32467	0.336;0.372;0.372	B;B;B	0.24155	0.051;0.042;0.042	T	0.04090	-1.0978	10	0.16420	T	0.52	-18.5574	9.9946	0.41891	0.2124:0.0:0.7876:0.0	.	807;902;667	F5H586;Q6ZN30;D3DRJ1	.;BNC2_HUMAN;.	E	902;835;807	ENSP00000370047:D902E;ENSP00000370042:D835E;ENSP00000444640:D807E	ENSP00000370042:D835E	D	-	3	2	BNC2	16409581	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.874000	0.48483	1.369000	0.46134	-0.140000	0.14226	GAC		0.532	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		36	61	36	61	---	---	---	---
RPP25L	138716	broad.mit.edu	37	9	34611074	34611074	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr9:34611074C>G	ENST00000297613.4	-	2	500	c.220G>C	c.(220-222)Gtc>Ctc	p.V74L	DCTN3_ENST00000479399.1_5'Flank|RPP25L_ENST00000378959.4_Missense_Mutation_p.V74L	NM_148179.2	NP_680545.1	Q8N5L8	RP25L_HUMAN	ribonuclease P/MRP 25kDa subunit-like	74						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.V74I(1)									CGCCGCTTGACAATCTCAGCG	0.627																																						ENST00000297613.4																			1	Substitution - Missense(1)	p.V74I(1)	lung(1)								c.(220-222)Gtc>Ctc		ribonuclease P/MRP 25kDa subunit-like							62.0	60.0	61.0					9																	34611074		2203	4300	6503	SO:0001583	missense	138716						nucleic acid binding	g.chr9:34611074C>G	BC032136	CCDS6559.1	9p11.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164967	ENSG00000164967			19909	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 23"""	C9orf23		16998185	Standard	NM_148178		Approved	bA296L22.5, MGC29635	uc003zuv.3	Q8N5L8	OTTHUMG00000000443	ENST00000297613.4:c.220G>C	9.37:g.34611074C>G	ENSP00000297613:p.Val74Leu		Somatic				RPP25L_ENST00000378959.4_Missense_Mutation_p.V74L	p.V74L	NM_148179.2	NP_680545.1	WXS	Illumina GAIIx	Phase_I	Q8N5L8	CI023_HUMAN			2	500	-			74					D3DRM5	Missense_Mutation	SNP	ENST00000297613.4	37	c.220G>C	CCDS6559.1	.	.	.	.	.	.	.	.	.	.	C	3.354	-0.131825	0.06753	.	.	ENSG00000164967	ENST00000378959;ENST00000297613	.	.	.	4.72	3.79	0.43588	.	0.302693	0.33834	N	0.004512	T	0.13884	0.0336	N	0.01631	-0.79	0.36230	D	0.852554	B	0.06786	0.001	B	0.08055	0.003	T	0.35748	-0.9776	9	0.02654	T	1	-10.5411	4.1416	0.10196	0.0:0.5692:0.2365:0.1943	.	74	Q8N5L8	CI023_HUMAN	L	74	.	ENSP00000297613:V74L	V	-	1	0	C9orf23	34601074	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	0.968000	0.29357	2.448000	0.82819	0.643000	0.83706	GTC		0.627	RPP25L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001130.1	NM_148179		8	48	8	48	---	---	---	---
UNC13B	10497	broad.mit.edu	37	9	35382355	35382355	+	Splice_Site	SNP	C	C	G			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr9:35382355C>G	ENST00000378495.3	+	20	2632	c.2410C>G	c.(2410-2412)Cac>Gac	p.H804D	UNC13B_ENST00000378496.4_Splice_Site_p.H804D|UNC13B_ENST00000396787.1_Splice_Site_p.H816D	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	804					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GTTTTTCAGGCACTTTGCATG	0.488																																						ENST00000378495.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(2410-2412)Cac>Gac		unc-13 homolog B (C. elegans)							168.0	145.0	153.0					9																	35382355		2203	4300	6503	SO:0001630	splice_region_variant	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35382355C>G	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.2409-1C>G	9.37:g.35382355C>G			Somatic				UNC13B_ENST00000396787.1_Splice_Site_p.H816D|UNC13B_ENST00000378496.4_Splice_Site_p.H804D	p.H804D	NM_006377.3	NP_006368.3	WXS	Illumina GAIIx	Phase_I	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		20	2632	+	all_epithelial(49;0.212)		804					Q5VYM8	Splice_Site	SNP	ENST00000378495.3	37	c.2410C>G	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.065786	0.76187	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	D;D;D	0.85171	-1.83;-1.76;-1.95	5.5	5.5	0.81552	.	0.084546	0.85682	D	0.000000	D	0.91948	0.7450	M	0.83953	2.67	0.80722	D	1	P;D	0.63046	0.902;0.992	P;P	0.58970	0.498;0.849	D	0.92525	0.6028	10	0.72032	D	0.01	-19.1484	18.5685	0.91126	0.0:1.0:0.0:0.0	.	804;804	F8W8M9;O14795	.;UN13B_HUMAN	D	816;804;804;391	ENSP00000380006:H816D;ENSP00000367756:H804D;ENSP00000367757:H804D	ENSP00000367756:H804D	H	+	1	0	UNC13B	35372355	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.567000	0.82357	2.861000	0.98227	0.655000	0.94253	CAC		0.488	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377	Missense_Mutation	19	54	19	54	---	---	---	---
FRMPD1	22844	broad.mit.edu	37	9	37740677	37740677	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr9:37740677T>A	ENST00000539465.1	+	15	2745	c.2152T>A	c.(2152-2154)Tac>Aac	p.Y718N	FRMPD1_ENST00000541302.1_Missense_Mutation_p.Y587N|FRMPD1_ENST00000377765.3_Missense_Mutation_p.Y718N|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000536622.1_Missense_Mutation_p.Y540N			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	718						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CCCGGCCAGCTACCTGAGTGA	0.637																																						ENST00000539465.1																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(2152-2154)Tac>Aac		FERM and PDZ domain containing 1							48.0	38.0	41.0					9																	37740677		2203	4300	6503	SO:0001583	missense	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37740677T>A	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.2152T>A	9.37:g.37740677T>A	ENSP00000444411:p.Tyr718Asn		Somatic				FRMPD1_ENST00000377765.3_Missense_Mutation_p.Y718N|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000541302.1_Missense_Mutation_p.Y587N|FRMPD1_ENST00000536622.1_Missense_Mutation_p.Y540N	p.Y718N			WXS	Illumina GAIIx	Phase_I	Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	15	2745	+			718					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	c.2152T>A	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	T	10.03	1.239733	0.22711	.	.	ENSG00000070601	ENST00000377765;ENST00000539465;ENST00000536622;ENST00000541302	T;T;T;T	0.16324	3.34;3.34;2.35;2.35	5.75	3.64	0.41730	.	0.711398	0.14100	N	0.341422	T	0.08358	0.0208	N	0.08118	0	0.24318	N	0.995057	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.29150	-1.0021	10	0.27785	T	0.31	-6.3804	8.0203	0.30406	0.2229:0.6895:0.0:0.0876	.	587;718	B4DZC8;Q5SYB0	.;FRPD1_HUMAN	N	718;718;540;587	ENSP00000366995:Y718N;ENSP00000444411:Y718N;ENSP00000437762:Y540N;ENSP00000444804:Y587N	ENSP00000366995:Y718N	Y	+	1	0	FRMPD1	37730677	0.486000	0.25980	1.000000	0.80357	0.715000	0.41141	0.674000	0.25218	1.421000	0.47157	-0.177000	0.13119	TAC		0.637	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		16	17	16	17	---	---	---	---
GRIN3A	116443	broad.mit.edu	37	9	104432660	104432660	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr9:104432660C>T	ENST00000361820.3	-	3	2634	c.2034G>A	c.(2032-2034)tgG>tgA	p.W678*		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	678					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	AAATCCCCAGCCACATTGTCC	0.522																																						ENST00000361820.3																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80						c.(2032-2034)tgG>tgA		glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						76.0	84.0	81.0					9																	104432660		2203	4300	6503	SO:0001587	stop_gained	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104432660C>T		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2034G>A	9.37:g.104432660C>T	ENSP00000355155:p.Trp678*		Somatic					p.W678*	NM_133445.2	NP_597702.2	WXS	Illumina GAIIx	Phase_I	Q8TCU5	NMD3A_HUMAN			3	2634	-		Acute lymphoblastic leukemia(62;0.0568)	678					B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Nonsense_Mutation	SNP	ENST00000361820.3	37	c.2034G>A	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	C	44	11.105345	0.99516	.	.	ENSG00000198785	ENST00000361820	.	.	.	5.63	3.8	0.43715	.	0.077434	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.6776	0.51438	0.0:0.8084:0.1247:0.0669	.	.	.	.	X	678	.	ENSP00000355155:W678X	W	-	3	0	GRIN3A	103472481	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.773000	0.85462	0.863000	0.35553	0.580000	0.79431	TGG		0.522	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			34	108	34	108	---	---	---	---
PSMD5	5711	broad.mit.edu	37	9	123586854	123586854	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr9:123586854G>C	ENST00000210313.3	-	7	998	c.924C>G	c.(922-924)gaC>gaG	p.D308E	PSMD5_ENST00000373904.5_Missense_Mutation_p.D265E|PSMD5-AS1_ENST00000589026.1_RNA	NM_001270427.1|NM_005047.3	NP_001257356.1|NP_005038.1	Q16401	PSMD5_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 5	308					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome regulatory particle assembly (GO:0070682)|protein folding (GO:0006457)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)				endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)	10						TCATAGTGGGGTCCTGACTTT	0.418																																						ENST00000210313.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)	10						c.(922-924)gaC>gaG		proteasome (prosome, macropain) 26S subunit, non-ATPase, 5							122.0	119.0	120.0					9																	123586854		2203	4300	6503	SO:0001583	missense	5711				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding	g.chr9:123586854G>C	AK001065	CCDS6824.1, CCDS59143.1	9q34.11	2008-02-05			ENSG00000095261	ENSG00000095261		"""Proteasome (prosome, macropain) subunits"""	9563	protein-coding gene	gene with protein product		604452				7559544	Standard	NM_005047		Approved	S5B, KIAA0072	uc004bko.4	Q16401	OTTHUMG00000020573	ENST00000210313.3:c.924C>G	9.37:g.123586854G>C	ENSP00000210313:p.Asp308Glu		Somatic				PSMD5_ENST00000373904.5_Missense_Mutation_p.D265E	p.D308E	NM_001270427.1|NM_005047.3	NP_001257356.1|NP_005038.1	WXS	Illumina GAIIx	Phase_I	Q16401	PSMD5_HUMAN			7	998	-			308					B4DZM8|Q15045|Q4VXG8	Missense_Mutation	SNP	ENST00000210313.3	37	c.924C>G	CCDS6824.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.334089	0.81801	.	.	ENSG00000095261	ENST00000210313;ENST00000373904;ENST00000373903	T;T	0.41065	1.01;1.01	6.17	3.35	0.38373	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.62744	0.2453	M	0.83603	2.65	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.62388	-0.6865	10	0.37606	T	0.19	.	9.8803	0.41229	0.2812:0.0:0.7188:0.0	.	265;308	B4DZM8;Q16401	.;PSMD5_HUMAN	E	308;265;79	ENSP00000210313:D308E;ENSP00000363011:D265E	ENSP00000210313:D308E	D	-	3	2	PSMD5	122626675	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.784000	0.55416	0.945000	0.37605	0.655000	0.94253	GAC		0.418	PSMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053825.2	NM_005047		8	112	8	112	---	---	---	---
PPP2R4	5524	broad.mit.edu	37	9	131885404	131885404	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr9:131885404A>G	ENST00000337738.1	+	3	470	c.203A>G	c.(202-204)tAc>tGc	p.Y68C	PPP2R4_ENST00000452489.2_Missense_Mutation_p.Y68C|PPP2R4_ENST00000355007.3_Missense_Mutation_p.Y68C|PPP2R4_ENST00000393370.2_Missense_Mutation_p.Y68C|PPP2R4_ENST00000357197.4_Intron|PPP2R4_ENST00000358994.4_Missense_Mutation_p.Y68C|PPP2R4_ENST00000348141.5_Missense_Mutation_p.Y74C|PPP2R4_ENST00000347048.4_Intron	NM_178001.2	NP_821068.1	Q15257	PTPA_HUMAN	protein phosphatase 2A activator, regulatory subunit 4	68					ATP catabolic process (GO:0006200)|mitotic spindle organization in nucleus (GO:0030472)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of protein dephosphorylation (GO:0035308)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein dephosphorylation (GO:0035307)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of phosphoprotein phosphatase activity (GO:0043666)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	ATP binding (GO:0005524)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein tyrosine phosphatase activator activity (GO:0008160)|receptor binding (GO:0005102)			breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		ACCTTCGAGTACAGAGTCTCC	0.532																																					Colon(158;2158 2504 4450 20433)	ENST00000337738.1																			0				breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(202-204)tAc>tGc		protein phosphatase 2A activator, regulatory subunit 4							104.0	96.0	99.0					9																	131885404		2203	4300	6503	SO:0001583	missense	5524				ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding	g.chr9:131885404A>G	X73478	CCDS6920.1, CCDS65156.1, CCDS75917.1	9q34	2010-06-18	2007-01-22		ENSG00000119383	ENSG00000119383		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9308	protein-coding gene	gene with protein product	"""phosphotyrosyl phosphatase activator"", ""PP2A phosphatase activator"""	600756	"""protein phosphatase 2A, regulatory subunit B' (PR 53)"""			8530035	Standard	NM_021131		Approved	PTPA, PR53	uc004bxm.2	Q15257	OTTHUMG00000020774	ENST00000337738.1:c.203A>G	9.37:g.131885404A>G	ENSP00000337448:p.Tyr68Cys		Somatic				PPP2R4_ENST00000357197.4_Intron|PPP2R4_ENST00000358994.4_Missense_Mutation_p.Y68C|PPP2R4_ENST00000347048.4_Intron|PPP2R4_ENST00000348141.5_Missense_Mutation_p.Y74C|PPP2R4_ENST00000355007.3_Missense_Mutation_p.Y68C|PPP2R4_ENST00000452489.2_Missense_Mutation_p.Y68C|PPP2R4_ENST00000393370.2_Missense_Mutation_p.Y68C	p.Y68C	NM_178001.2	NP_821068.1	WXS	Illumina GAIIx	Phase_I	Q15257	PTPA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	3	470	+		Medulloblastoma(224;0.235)	68					A2A347|A9IZU4|B4DXM4|Q15258|Q53GZ3|Q5TZQ2|Q9BUK1|Q9NNZ7|Q9NNZ8|Q9NNZ9	Missense_Mutation	SNP	ENST00000337738.1	37	c.203A>G		.	.	.	.	.	.	.	.	.	.	A	15.29	2.791088	0.50102	.	.	ENSG00000119383	ENST00000358994;ENST00000455292;ENST00000393370;ENST00000337738;ENST00000348141;ENST00000452489;ENST00000445241;ENST00000355007;ENST00000417728;ENST00000453358;ENST00000417504;ENST00000440346	T;T;T;T;T;T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.56;1.57;1.53;1.53;1.53	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.22085	0.0532	N	0.13168	0.305	0.80722	D	1	B;B;B;B;B	0.22146	0.065;0.002;0.017;0.0;0.0	B;B;B;B;B	0.26094	0.066;0.008;0.009;0.001;0.001	T	0.05068	-1.0908	10	0.49607	T	0.09	-28.0262	14.5424	0.68005	1.0:0.0:0.0:0.0	.	68;68;68;68;68	B4DLX5;B4DZF8;Q15257-4;Q15257;Q15257-2	.;.;.;PTPA_HUMAN;.	C	68;68;68;68;74;68;68;68;33;33;91;33	ENSP00000351885:Y68C;ENSP00000395499:Y68C;ENSP00000377036:Y68C;ENSP00000337448:Y68C;ENSP00000335200:Y74C;ENSP00000394338:Y68C;ENSP00000406997:Y68C;ENSP00000347109:Y68C;ENSP00000403542:Y33C;ENSP00000393092:Y33C;ENSP00000400314:Y91C;ENSP00000393796:Y33C	ENSP00000337448:Y68C	Y	+	2	0	PPP2R4	130925225	1.000000	0.71417	0.998000	0.56505	0.903000	0.53119	5.547000	0.67249	2.115000	0.64714	0.402000	0.26972	TAC		0.532	PPP2R4-201	KNOWN	basic	protein_coding	protein_coding		NM_021131		4	168	4	168	---	---	---	---
TACC2	10579	broad.mit.edu	37	10	123970866	123970866	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr10:123970866A>T	ENST00000369005.1	+	9	7266	c.6926A>T	c.(6925-6927)gAg>gTg	p.E2309V	TACC2_ENST00000368999.1_Missense_Mutation_p.E387V|TACC2_ENST00000453444.2_Missense_Mutation_p.E2313V|TACC2_ENST00000369001.1_Missense_Mutation_p.E13V|TACC2_ENST00000358010.1_Missense_Mutation_p.E455V|TACC2_ENST00000360561.3_Missense_Mutation_p.E387V|TACC2_ENST00000515273.1_Missense_Mutation_p.E2313V|TACC2_ENST00000369000.1_Missense_Mutation_p.E13V|TACC2_ENST00000513429.1_Missense_Mutation_p.E455V|TACC2_ENST00000260733.3_Missense_Mutation_p.E387V|TACC2_ENST00000369004.3_Missense_Mutation_p.E387V|TACC2_ENST00000334433.3_Missense_Mutation_p.E2309V|TACC2_ENST00000515603.1_Missense_Mutation_p.E2264V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2309					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)				AAGACACCCGAGAAACTTGAC	0.493																																						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.(6925-6927)gAg>gTg		transforming, acidic coiled-coil containing protein 2							113.0	114.0	114.0					10																	123970866		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123970866A>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.6926A>T	10.37:g.123970866A>T	ENSP00000358001:p.Glu2309Val		Somatic				TACC2_ENST00000515273.1_Missense_Mutation_p.E2313V|TACC2_ENST00000369001.1_Missense_Mutation_p.E13V|TACC2_ENST00000358010.1_Missense_Mutation_p.E455V|TACC2_ENST00000260733.3_Missense_Mutation_p.E387V|TACC2_ENST00000453444.2_Missense_Mutation_p.E2313V|TACC2_ENST00000369004.3_Missense_Mutation_p.E387V|TACC2_ENST00000513429.1_Missense_Mutation_p.E455V|TACC2_ENST00000360561.3_Missense_Mutation_p.E387V|TACC2_ENST00000369000.1_Missense_Mutation_p.E13V|TACC2_ENST00000334433.3_Missense_Mutation_p.E2309V|TACC2_ENST00000515603.1_Missense_Mutation_p.E2264V|TACC2_ENST00000368999.1_Missense_Mutation_p.E387V	p.E2309V	NM_206862.2	NP_996744.2	WXS	Illumina GAIIx	Phase_I	O95359	TACC2_HUMAN			9	7266	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2309					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.6926A>T	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	A	18.24	3.579391	0.65878	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000369001;ENST00000369000;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733;ENST00000514539;ENST00000496913	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.23552	3.77;3.35;3.82;3.81;3.77;3.35;3.82;1.93;1.9;3.2;3.21;3.2;3.22;2.84;2.27	5.02	5.02	0.67125	.	0.000000	0.37393	N	0.002107	T	0.51041	0.1651	M	0.78637	2.42	0.54753	D	0.999985	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;0.999;1.0;1.0;0.995;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.91635	0.999;0.998;0.996;0.999;0.998;0.999;0.999;0.951;0.999;0.999	T	0.49916	-0.8888	10	0.30854	T	0.27	-20.4695	15.0406	0.71788	1.0:0.0:0.0:0.0	.	404;2313;387;2264;2313;387;387;13;455;2309	E9PGB3;E9PBC6;D6RAA5;E7EMZ9;B7ZMJ9;O95359-6;O95359-1;O95359-2;O95359-5;O95359	.;.;.;.;.;.;.;.;.;TACC2_HUMAN	V	2309;455;2313;2264;2309;455;2313;2299;13;13;387;387;387;387;404;48	ENSP00000358001:E2309V;ENSP00000425062:E455V;ENSP00000424467:E2313V;ENSP00000427618:E2264V;ENSP00000334280:E2309V;ENSP00000350701:E455V;ENSP00000395048:E2313V;ENSP00000357997:E13V;ENSP00000357996:E13V;ENSP00000353763:E387V;ENSP00000357995:E387V;ENSP00000422815:E387V;ENSP00000260733:E387V;ENSP00000420967:E404V;ENSP00000422725:E48V	ENSP00000260733:E387V	E	+	2	0	TACC2	123960856	1.000000	0.71417	0.986000	0.45419	0.968000	0.65278	7.172000	0.77604	2.022000	0.59522	0.454000	0.30748	GAG		0.493	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			40	74	40	74	---	---	---	---
ADAM12	8038	broad.mit.edu	37	10	127730776	127730776	+	Intron	SNP	G	G	A			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr10:127730776G>A	ENST00000368679.4	-	18	2423				ADAM12_ENST00000368676.4_Silent_p.N714N	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12						cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CGCGCTCCCTGTTGGACTCTG	0.562																																						ENST00000368676.4																			0				biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(2140-2142)aaC>aaT		ADAM metallopeptidase domain 12							82.0	64.0	70.0					10																	127730776		2203	4300	6503	SO:0001627	intron_variant	8038				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	g.chr10:127730776G>A	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.2113+832C>T	10.37:g.127730776G>A			Somatic				ADAM12_ENST00000368679.4_Intron	p.N714N	NM_021641.3	NP_067673.2	WXS	Illumina GAIIx	Phase_I	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	19	2451	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)	0					O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Silent	SNP	ENST00000368679.4	37	c.2142C>T	CCDS7653.1																																																																																				0.562	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			5	41	5	41	---	---	---	---
SPON1	10418	broad.mit.edu	37	11	13984532	13984532	+	RNA	SNP	G	G	C			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr11:13984532G>C	ENST00000310358.7	+	0	619							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		CCGCGGCGCTGGCCTTCTCCG	0.706																																						ENST00000310358.7																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21								spondin 1, extracellular matrix protein							6.0	7.0	7.0					11																	13984532		1981	4109	6090			10418				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	g.chr11:13984532G>C	AB018305	CCDS73262.1	11p15.2	2014-05-06	2004-03-05		ENSG00000152268	ENSG00000262655			11252	protein-coding gene	gene with protein product		604989	"""spondin 1, (f-spondin) extracellular matrix protein"""			9872452	Standard	NM_006108		Approved	KIAA0762, f-spondin	uc001mle.3	Q9HCB6	OTTHUMG00000181576		11.37:g.13984532G>C			Somatic								WXS	Illumina GAIIx	Phase_I	Q9HCB6	SPON1_HUMAN		Epithelial(150;0.00898)	0	619	+								A8K6W5|O94862|Q8NCD7|Q8WUR5	RNA	SNP	ENST00000310358.7	37																																																																																						0.706	SPON1-201	KNOWN	basic	processed_transcript	processed_transcript		NM_145584		6	14	6	14	---	---	---	---
MRGPRX1	259249	broad.mit.edu	37	11	18955439	18955439	+	Missense_Mutation	SNP	G	G	A	rs183845903		TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr11:18955439G>A	ENST00000302797.3	-	1	1117	c.893C>T	c.(892-894)gCg>gTg	p.A298V	MRGPRX1_ENST00000526914.1_5'Flank|RP11-583F24.8_ENST00000528646.1_RNA	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	298				AS -> TP (in Ref. 2; AAL86880). {ECO:0000305}.	acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CACCTCAGACGCGTCCTGCAG	0.562													G|||	1	0.000199681	0.0008	0.0	5008	,	,		24102	0.0		0.0	False		,,,				2504	0.0					ENST00000302797.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(892-894)gCg>gTg		MAS-related GPR, member X1							71.0	67.0	69.0					11																	18955439		2194	4286	6480	SO:0001583	missense	259249				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18955439G>A		CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"""GPCR / Class A : Orphans"""	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.893C>T	11.37:g.18955439G>A	ENSP00000305766:p.Ala298Val		Somatic					p.A298V	NM_147199.3	NP_671732.3	WXS	Illumina GAIIx	Phase_I	Q96LB2	MRGX1_HUMAN			1	1117	-			298	AS -> TP (in Ref. 2; AAL86880).				Q4V9L2|Q8TDD8|Q8TDD9	Missense_Mutation	SNP	ENST00000302797.3	37	c.893C>T	CCDS7846.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	10.27	1.304888	0.23736	.	.	ENSG00000170255	ENST00000302797	T	0.20332	2.08	2.28	1.35	0.21983	.	0.891913	0.09559	N	0.785768	T	0.06188	0.0160	N	0.00926	-1.1	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.35748	-0.9776	10	0.30078	T	0.28	.	4.4439	0.11588	0.331:0.0:0.669:0.0	.	298	Q96LB2	MRGX1_HUMAN	V	298	ENSP00000305766:A298V	ENSP00000305766:A298V	A	-	2	0	MRGPRX1	18912015	0.000000	0.05858	0.036000	0.18154	0.088000	0.18126	-0.652000	0.05366	0.512000	0.28257	0.491000	0.48974	GCG		0.562	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199		21	36	21	36	---	---	---	---
LRP4	4038	broad.mit.edu	37	11	46917845	46917845	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr11:46917845C>G	ENST00000378623.1	-	9	1206	c.964G>C	c.(964-966)Ggg>Cgg	p.G322R		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	322	LDL-receptor class A 8. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)		ATGCAGCGCCCATTCCAACAC	0.577																																						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.(964-966)Ggg>Cgg		low density lipoprotein receptor-related protein 4							95.0	90.0	92.0					11																	46917845		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46917845C>G	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.964G>C	11.37:g.46917845C>G	ENSP00000367888:p.Gly322Arg		Somatic					p.G322R	NM_002334.3	NP_002325.2	WXS	Illumina GAIIx	Phase_I	O75096	LRP4_HUMAN		Lung(87;0.159)	9	1206	-			322			LDL-receptor class A 8.		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.964G>C	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.377982	0.82682	.	.	ENSG00000134569	ENST00000378623	T	0.49139	0.79	5.75	3.84	0.44239	Growth factor, receptor (1);	0.061174	0.64402	D	0.000003	T	0.58906	0.2155	M	0.68317	2.08	0.80722	D	1	D	0.59357	0.985	P	0.58013	0.831	T	0.58387	-0.7645	10	0.49607	T	0.09	.	10.525	0.44943	0.134:0.7972:0.0:0.0688	.	322	O75096	LRP4_HUMAN	R	322	ENSP00000367888:G322R	ENSP00000367888:G322R	G	-	1	0	LRP4	46874421	0.999000	0.42202	0.844000	0.33320	0.992000	0.81027	4.030000	0.57260	0.733000	0.32492	0.655000	0.94253	GGG		0.577	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		33	67	33	67	---	---	---	---
CASC1	55259	broad.mit.edu	37	12	25260815	25260815	+	IGR	SNP	C	C	T			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr12:25260815C>T	ENST00000320267.9	-	0	2361				LRMP_ENST00000548766.1_Missense_Mutation_p.L441F|LRMP_ENST00000547044.1_Missense_Mutation_p.L441F|LRMP_ENST00000354454.3_Missense_Mutation_p.L441F	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1											breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TAATAAGGCCCTCTGGCTCTC	0.438																																						ENST00000354454.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19						c.(1321-1323)Ctc>Ttc		lymphoid-restricted membrane protein							112.0	102.0	106.0					12																	25260815		2203	4300	6503	SO:0001628	intergenic_variant	4033				vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane		g.chr12:25260815C>T	AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 54"""					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195		12.37:g.25260815C>T			Somatic				LRMP_ENST00000548766.1_Missense_Mutation_p.L441F|LRMP_ENST00000547044.1_Missense_Mutation_p.L441F	p.L441F	NM_006152.3	NP_006143.2	WXS	Illumina GAIIx	Phase_I	Q12912	LRMP_HUMAN			21	2150	+	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)		497					B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Missense_Mutation	SNP	ENST00000320267.9	37	c.1321C>T	CCDS41762.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.422789	0.43020	.	.	ENSG00000118308	ENST00000354454;ENST00000536173;ENST00000548766;ENST00000547044	T;T;T;T	0.20738	2.05;2.05;2.05;2.05	5.53	3.72	0.42706	.	0.331422	0.28388	N	0.015531	T	0.42040	0.1185	M	0.71581	2.175	0.36232	D	0.852699	D	0.89917	1.0	D	0.91635	0.999	T	0.50783	-0.8787	10	0.72032	D	0.01	-2.2449	8.8942	0.35453	0.0:0.6408:0.2829:0.0763	.	497	Q12912	LRMP_HUMAN	F	441;388;441;441	ENSP00000346442:L441F;ENSP00000444056:L388F;ENSP00000446496:L441F;ENSP00000450246:L441F	ENSP00000346442:L441F	L	+	1	0	LRMP	25152082	0.008000	0.16893	0.203000	0.23512	0.361000	0.29550	0.238000	0.18004	0.709000	0.31976	-0.266000	0.10368	CTC		0.438	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	NM_018272		19	71	19	71	---	---	---	---
PLXNC1	10154	broad.mit.edu	37	12	94637768	94637768	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr12:94637768A>T	ENST00000258526.4	+	12	2604	c.2355A>T	c.(2353-2355)ttA>ttT	p.L785F		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	785					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TTGACAACTTAATCATTTCAC	0.328																																						ENST00000258526.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2353-2355)ttA>ttT		plexin C1							129.0	121.0	123.0					12																	94637768		2202	4299	6501	SO:0001583	missense	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94637768A>T	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.2355A>T	12.37:g.94637768A>T	ENSP00000258526:p.Leu785Phe		Somatic					p.L785F	NM_005761.2	NP_005752.1	WXS	Illumina GAIIx	Phase_I	O60486	PLXC1_HUMAN			12	2604	+			785					Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	c.2355A>T	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	A	16.90	3.249387	0.59103	.	.	ENSG00000136040	ENST00000258526	T	0.77489	-1.1	5.56	3.16	0.36331	Cell surface receptor IPT/TIG (2);Immunoglobulin-like fold (1);	0.313316	0.29544	N	0.011853	T	0.76572	0.4006	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.73477	-0.3970	10	0.52906	T	0.07	.	1.61	0.02692	0.5642:0.1446:0.1526:0.1387	.	785	O60486	PLXC1_HUMAN	F	785	ENSP00000258526:L785F	ENSP00000258526:L785F	L	+	3	2	PLXNC1	93161899	0.984000	0.35163	1.000000	0.80357	0.986000	0.74619	0.267000	0.18552	0.458000	0.26988	-0.353000	0.07706	TTA		0.328	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			18	24	18	24	---	---	---	---
IQCD	115811	broad.mit.edu	37	12	113645503	113645503	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr12:113645503T>C	ENST00000416617.2	-	2	659	c.469A>G	c.(469-471)Aga>Gga	p.R157G	IQCD_ENST00000299732.2_Missense_Mutation_p.R157G|IQCD_ENST00000546692.1_Missense_Mutation_p.R157G			Q96DY2	IQCD_HUMAN	IQ motif containing D	157										endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						AGCAAGAGTCTAAGGACGTTC	0.527																																						ENST00000546692.1																			0				endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						c.(469-471)Aga>Gga		IQ motif containing D							107.0	101.0	103.0					12																	113645503		2203	4300	6503	SO:0001583	missense	115811							g.chr12:113645503T>C	BC013151	CCDS9167.1	12q24.21	2014-07-18				ENSG00000166578			25168	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 10"""					23427265, 24804578	Standard	NM_138451		Approved	DRC10, CFAP84	uc001tuu.3	Q96DY2		ENST00000416617.2:c.469A>G	12.37:g.113645503T>C	ENSP00000400669:p.Arg157Gly		Somatic				IQCD_ENST00000299732.2_Missense_Mutation_p.R157G|IQCD_ENST00000416617.2_Missense_Mutation_p.R157G	p.R157G			WXS	Illumina GAIIx	Phase_I	Q96DY2	IQCD_HUMAN			2	842	-			157					Q6ZSU0	Missense_Mutation	SNP	ENST00000416617.2	37	c.469A>G		.	.	.	.	.	.	.	.	.	.	T	17.01	3.280311	0.59758	.	.	ENSG00000166578	ENST00000299732;ENST00000416617;ENST00000546692;ENST00000392574	T;T;T	0.09911	2.93;2.93;2.93	4.72	0.828	0.18841	.	0.000000	0.64402	D	0.000001	T	0.30198	0.0757	M	0.76328	2.33	0.38683	D	0.952583	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.982	T	0.09975	-1.0650	10	0.87932	D	0	-23.9018	13.0661	0.59034	0.0:0.0:0.5849:0.4151	.	157;157	F8VZV9;Q96DY2-2	.;.	G	157	ENSP00000299732:R157G;ENSP00000400669:R157G;ENSP00000446623:R157G	ENSP00000299732:R157G	R	-	1	2	IQCD	112129886	0.977000	0.34250	0.036000	0.18154	0.244000	0.25665	0.457000	0.21875	-0.014000	0.14175	0.460000	0.39030	AGA		0.527	IQCD-004	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000405327.1	NM_138451		12	131	12	131	---	---	---	---
NOS1	4842	broad.mit.edu	37	12	117660556	117660556	+	Silent	SNP	C	C	T			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr12:117660556C>T	ENST00000338101.4	-	26	4045	c.4041G>A	c.(4039-4041)ctG>ctA	p.L1347L	NOS1_ENST00000317775.6_Silent_p.L1313L|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		AAGCCGTGTACAGCTCTCTGA	0.577																																					Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000317775.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(3937-3939)ctG>ctA		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)						147.0	149.0	149.0					12																	117660556		1952	4140	6092	SO:0001819	synonymous_variant	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117660556C>T		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.4041G>A	12.37:g.117660556C>T			Somatic				NOS1_ENST00000338101.4_Silent_p.L1347L|NOS1_ENST00000344089.3_3'UTR	p.L1313L	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	WXS	Illumina GAIIx	Phase_I	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	26	4624	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1313						Silent	SNP	ENST00000338101.4	37	c.3939G>A	CCDS55890.1																																																																																				0.577	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			8	189	8	189	---	---	---	---
GPR133	283383	broad.mit.edu	37	12	131490521	131490521	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr12:131490521G>C	ENST00000261654.5	+	12	1819	c.1260G>C	c.(1258-1260)tgG>tgC	p.W420C	GPR133_ENST00000376682.4_Missense_Mutation_p.W106C|GPR133_ENST00000535015.1_Missense_Mutation_p.W452C	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	420					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(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CTGCAGCCTGGAGCACCGTCG	0.642																																						ENST00000261654.5																			0				NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.(1258-1260)tgG>tgC		G protein-coupled receptor 133							85.0	65.0	72.0					12																	131490521		2203	4300	6503	SO:0001583	missense	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131490521G>C	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.1260G>C	12.37:g.131490521G>C	ENSP00000261654:p.Trp420Cys		Somatic				GPR133_ENST00000376682.4_Missense_Mutation_p.W106C|GPR133_ENST00000535015.1_Missense_Mutation_p.W452C	p.W420C	NM_198827.3	NP_942122.2	WXS	Illumina GAIIx	Phase_I	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	12	1819	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		420					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	c.1260G>C	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.914324	0.52546	.	.	ENSG00000111452	ENST00000261654;ENST00000535015;ENST00000544673;ENST00000545900;ENST00000376682	T;T;T	0.47177	0.92;0.91;0.85	4.56	4.56	0.56223	.	0.168310	0.42420	D	0.000714	T	0.57272	0.2042	L	0.57536	1.79	0.80722	D	1	D;D	0.71674	0.998;0.996	P;P	0.57324	0.818;0.749	T	0.56860	-0.7909	10	0.38643	T	0.18	.	12.8172	0.57671	0.0:0.0:1.0:0.0	.	452;420	B7ZLF7;Q6QNK2	.;GP133_HUMAN	C	420;452;111;116;106	ENSP00000261654:W420C;ENSP00000444425:W452C;ENSP00000365872:W106C	ENSP00000261654:W420C	W	+	3	0	GPR133	130056474	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	2.911000	0.48774	2.069000	0.61940	0.313000	0.20887	TGG		0.642	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		14	30	14	30	---	---	---	---
ANKLE2	23141	broad.mit.edu	37	12	133324779	133324779	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr12:133324779A>G	ENST00000357997.5	-	4	1075	c.986T>C	c.(985-987)aTc>aCc	p.I329T	ANKLE2_ENST00000337516.5_Missense_Mutation_p.I329T|ANKLE2_ENST00000539605.1_Missense_Mutation_p.I267T	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	329					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		GTTGCTCCAGATAAGGTCAGA	0.597																																						ENST00000539605.1																			0				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45						c.(799-801)aTc>aCc		ankyrin repeat and LEM domain containing 2							118.0	117.0	117.0					12																	133324779		1998	4162	6160	SO:0001583	missense	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133324779A>G	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.986T>C	12.37:g.133324779A>G	ENSP00000350686:p.Ile329Thr		Somatic				ANKLE2_ENST00000357997.5_Missense_Mutation_p.I329T|ANKLE2_ENST00000337516.5_Missense_Mutation_p.I329T	p.I267T			WXS	Illumina GAIIx	Phase_I	Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	3	7484	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	329					A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	ENST00000357997.5	37	c.800T>C	CCDS41869.1	.	.	.	.	.	.	.	.	.	.	a	10.69	1.421691	0.25639	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000337516;ENST00000545623	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.52	4.36	0.52297	Ankyrin repeat-containing domain (1);	0.475254	0.24654	N	0.036686	T	0.34193	0.0889	L	0.46885	1.475	0.41152	D	0.986031	B;B	0.29766	0.027;0.256	B;B	0.22386	0.039;0.035	T	0.12863	-1.0531	10	0.49607	T	0.09	-14.4061	10.6774	0.45794	0.9221:0.0:0.0779:0.0	.	329;329	Q86XL3-2;Q86XL3	.;ANKL2_HUMAN	T	267;329;329;99	ENSP00000446268:I267T;ENSP00000350686:I329T;ENSP00000337651:I329T;ENSP00000438515:I99T	ENSP00000337651:I329T	I	-	2	0	ANKLE2	131834852	1.000000	0.71417	0.756000	0.31282	0.063000	0.16089	7.121000	0.77160	0.908000	0.36671	0.460000	0.39030	ATC		0.597	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			8	29	8	29	---	---	---	---
CDH24	64403	broad.mit.edu	37	14	23522821	23522821	+	Silent	SNP	C	C	T			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr14:23522821C>T	ENST00000267383.5	-	6	1202	c.1110G>A	c.(1108-1110)gaG>gaA	p.E370E	CDH24_ENST00000397359.3_Silent_p.E370E|CDH24_ENST00000487137.2_Silent_p.E370E|CDH24_ENST00000554034.1_Silent_p.E370E			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	370	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		AGGCAGGTGGCTCTGGGGCAT	0.647																																						ENST00000397359.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(1108-1110)gaG>gaA		cadherin 24, type 2							61.0	56.0	58.0					14																	23522821		2203	4300	6503	SO:0001819	synonymous_variant	64403				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding	g.chr14:23522821C>T	AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"""Cadherins / Major cadherins"""	14265	protein-coding gene	gene with protein product			"""cadherin-like 24"""			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.1110G>A	14.37:g.23522821C>T			Somatic				CDH24_ENST00000267383.5_Silent_p.E370E|CDH24_ENST00000554034.1_Silent_p.E370E|CDH24_ENST00000487137.2_Silent_p.E370E	p.E370E	NM_022478.3	NP_071923.2	WXS	Illumina GAIIx	Phase_I	Q86UP0	CAD24_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	7	1369	-	all_cancers(95;3.3e-05)		370			Cadherin 3.		D3DS44|Q86UP1|Q9NT84	Silent	SNP	ENST00000267383.5	37	c.1110G>A	CCDS9585.1																																																																																				0.647	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2	NM_022478		28	57	28	57	---	---	---	---
VRTN	55237	broad.mit.edu	37	14	74823853	74823853	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr14:74823853A>T	ENST00000256362.4	+	2	608	c.367A>T	c.(367-369)Atg>Ttg	p.M123L		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	123					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CCTCCAGGGCATGATCGACTC	0.642																																						ENST00000256362.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(367-369)Atg>Ttg		vertebrae development associated							70.0	65.0	67.0					14																	74823853		2203	4300	6503	SO:0001583	missense	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74823853A>T	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.367A>T	14.37:g.74823853A>T	ENSP00000256362:p.Met123Leu		Somatic					p.M123L	NM_018228.2	NP_060698.2	WXS	Illumina GAIIx	Phase_I	Q9H8Y1	VRTN_HUMAN			2	608	+			123					Q9NVC7	Missense_Mutation	SNP	ENST00000256362.4	37	c.367A>T	CCDS9830.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.212882	0.79352	.	.	ENSG00000133980	ENST00000256362	T	0.41065	1.01	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.50292	0.1607	L	0.27053	0.805	0.48901	D	0.999725	D	0.64830	0.994	D	0.70716	0.97	T	0.54695	-0.8255	10	0.87932	D	0	-8.9416	13.4832	0.61348	1.0:0.0:0.0:0.0	.	123	Q9H8Y1	VRTN_HUMAN	L	123	ENSP00000256362:M123L	ENSP00000256362:M123L	M	+	1	0	VRTN	73893606	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.320000	0.89995	2.119000	0.64992	0.454000	0.30748	ATG		0.642	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		4	42	4	42	---	---	---	---
BTBD7	55727	broad.mit.edu	37	14	93709033	93709033	+	Silent	SNP	A	A	T			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr14:93709033A>T	ENST00000334746.5	-	11	3292	c.2985T>A	c.(2983-2985)ggT>ggA	p.G995G	BTBD7_ENST00000554565.1_Silent_p.G644G|BTBD7_ENST00000393170.2_Silent_p.G569G	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	995					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				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)		GAGACGTCTGACCAGGTAGGT	0.498																																						ENST00000334746.5																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35						c.(2983-2985)ggT>ggA		BTB (POZ) domain containing 7							154.0	142.0	146.0					14																	93709033		2203	4300	6503	SO:0001819	synonymous_variant	55727							g.chr14:93709033A>T	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.2985T>A	14.37:g.93709033A>T			Somatic				BTBD7_ENST00000554565.1_Silent_p.G644G|BTBD7_ENST00000393170.2_Silent_p.G569G	p.G995G	NM_001002860.2	NP_001002860.2	WXS	Illumina GAIIx	Phase_I	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	11	3292	-		all_cancers(154;0.08)	995					A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Silent	SNP	ENST00000334746.5	37	c.2985T>A	CCDS32146.1																																																																																				0.498	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		9	119	9	119	---	---	---	---
UNC13C	440279	broad.mit.edu	37	15	54792334	54792334	+	Silent	SNP	A	A	G			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr15:54792334A>G	ENST00000260323.11	+	20	5118	c.5118A>G	c.(5116-5118)gaA>gaG	p.E1706E	UNC13C_ENST00000537900.1_Silent_p.E1704E|UNC13C_ENST00000545554.1_Silent_p.E1706E	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1706	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGTCAATGGAATTCCTTCATG	0.348																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(5116-5118)gaA>gaG		unc-13 homolog C (C. elegans)							118.0	110.0	113.0					15																	54792334		1847	4101	5948	SO:0001819	synonymous_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54792334A>G	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.5118A>G	15.37:g.54792334A>G			Somatic				UNC13C_ENST00000260323.11_Silent_p.E1706E|UNC13C_ENST00000537900.1_Silent_p.E1704E	p.E1706E			WXS	Illumina GAIIx	Phase_I	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	20	5118	+			1706			MHD1.		Q0P613|Q8ND48|Q96NP3	Silent	SNP	ENST00000260323.11	37	c.5118A>G	CCDS45264.1																																																																																				0.348	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		14	16	14	16	---	---	---	---
ZWILCH	55055	broad.mit.edu	37	15	66821854	66821854	+	Silent	SNP	G	G	A			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr15:66821854G>A	ENST00000307897.5	+	12	1478	c.1098G>A	c.(1096-1098)ttG>ttA	p.L366L	ZWILCH_ENST00000565627.1_Silent_p.L252L|ZWILCH_ENST00000535141.2_Silent_p.L252L|ZWILCH_ENST00000446801.2_Silent_p.L252L	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	366					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						ACCAAGACTTGGTGAAGTGTT	0.368																																						ENST00000307897.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						c.(1096-1098)ttG>ttA		zwilch kinetochore protein							168.0	149.0	155.0					15																	66821854		2201	4299	6500	SO:0001819	synonymous_variant	55055				cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding	g.chr15:66821854G>A	AK023175	CCDS10219.1, CCDS73746.1	15q22.31	2013-01-17	2012-12-13		ENSG00000174442	ENSG00000174442			25468	protein-coding gene	gene with protein product		609984	"""Zwilch, kinetochore associated, homolog (Drosophila)"""			12686595	Standard	NM_017975		Approved	FLJ10036, KNTC1AP	uc002aqb.3	Q9H900	OTTHUMG00000133194	ENST00000307897.5:c.1098G>A	15.37:g.66821854G>A			Somatic				ZWILCH_ENST00000565627.1_Silent_p.L252L|ZWILCH_ENST00000535141.2_Silent_p.L252L|ZWILCH_ENST00000446801.2_Silent_p.L252L	p.L366L	NM_017975.3	NP_060445.3	WXS	Illumina GAIIx	Phase_I	Q9H900	ZWILC_HUMAN			12	1478	+			366					B3KVB8|Q6N049|Q8N404|Q96SY7|Q9NWG7	Silent	SNP	ENST00000307897.5	37	c.1098G>A	CCDS10219.1																																																																																				0.368	ZWILCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256904.4	NM_017975		20	39	20	39	---	---	---	---
SNX33	257364	broad.mit.edu	37	15	75941791	75941791	+	Silent	SNP	C	C	T			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr15:75941791C>T	ENST00000308527.5	+	1	1545	c.348C>T	c.(346-348)gaC>gaT	p.D116D	IMP3_ENST00000565349.1_5'Flank|IMP3_ENST00000314852.2_5'Flank	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	116	Poly-Asp.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|macropinocytosis (GO:0044351)|membrane tubulation (GO:0097320)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|negative regulation of endocytosis (GO:0045806)|negative regulation of protein localization to cell surface (GO:2000009)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein localization to cell surface (GO:2000010)|protein import (GO:0017038)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						ATGATGATGACTGGGATGACT	0.622																																						ENST00000308527.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						c.(346-348)gaC>gaT		sorting nexin 33							82.0	79.0	80.0					15																	75941791		2197	4294	6491	SO:0001819	synonymous_variant	257364				cell communication		phosphatidylinositol binding|protein binding	g.chr15:75941791C>T	AK091291	CCDS10283.1	15q23	2008-04-18	2008-03-25	2008-03-25	ENSG00000173548	ENSG00000173548			28468	protein-coding gene	gene with protein product			"""SH3 and PX domain containing 3"""	SH3PX3		16374509, 16782399, 18353773	Standard	NM_153271		Approved	MGC32065, SH3PXD3C, SNX30	uc002bau.3	Q8WV41	OTTHUMG00000142835	ENST00000308527.5:c.348C>T	15.37:g.75941791C>T			Somatic					p.D116D	NM_153271.1	NP_695003.1	WXS	Illumina GAIIx	Phase_I	Q8WV41	SNX33_HUMAN			1	1545	+			116			Poly-Asp.		B1NM17	Silent	SNP	ENST00000308527.5	37	c.348C>T	CCDS10283.1																																																																																				0.622	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286471.1	NM_153271		4	127	4	127	---	---	---	---
KIAA0430	9665	broad.mit.edu	37	16	15729800	15729800	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr16:15729800C>G	ENST00000396368.3	-	3	750	c.544G>C	c.(544-546)Gag>Cag	p.E182Q	KIAA0430_ENST00000548025.1_Missense_Mutation_p.E182Q|KIAA0430_ENST00000344181.3_Missense_Mutation_p.E4Q|KIAA0430_ENST00000551742.1_Missense_Mutation_p.E182Q|KIAA0430_ENST00000602337.1_Missense_Mutation_p.E182Q|KIAA0430_ENST00000540441.2_Missense_Mutation_p.E182Q	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	182					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						AGGTTACTCTCTAGACACATG	0.488																																						ENST00000396368.3																			0				breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						c.(544-546)Gag>Cag		KIAA0430							125.0	125.0	125.0					16																	15729800		2046	4210	6256	SO:0001583	missense	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15729800C>G	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.544G>C	16.37:g.15729800C>G	ENSP00000379654:p.Glu182Gln		Somatic				KIAA0430_ENST00000344181.3_Missense_Mutation_p.E4Q|KIAA0430_ENST00000551742.1_Missense_Mutation_p.E182Q|KIAA0430_ENST00000540441.2_Missense_Mutation_p.E182Q|KIAA0430_ENST00000602337.1_Missense_Mutation_p.E182Q|KIAA0430_ENST00000548025.1_Missense_Mutation_p.E182Q	p.E182Q	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	WXS	Illumina GAIIx	Phase_I	Q9Y4F3	LKAP_HUMAN			3	750	-			181					A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	c.544G>C	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	C	22.6	4.311404	0.81358	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.67	5.67	0.87782	.	0.083210	0.51477	D	0.000087	T	0.60676	0.2287	L	0.29908	0.895	0.34092	D	0.660804	D;P;P;P;P	0.63046	0.992;0.882;0.882;0.882;0.813	P;P;P;P;B	0.58873	0.847;0.603;0.603;0.603;0.398	T	0.69716	-0.5070	9	0.72032	D	0.01	-11.0192	19.773	0.96379	0.0:1.0:0.0:0.0	.	181;181;182;181;181	Q9Y4F3-6;Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;.;LKAP_HUMAN	Q	182;182;181;4;182;182;182	.	ENSP00000315718:E181Q	E	-	1	0	KIAA0430	15637301	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.486000	0.60286	2.677000	0.91161	0.655000	0.94253	GAG		0.488	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		22	79	22	79	---	---	---	---
CHD9	80205	broad.mit.edu	37	16	53190625	53190625	+	Silent	SNP	C	C	T			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr16:53190625C>T	ENST00000398510.3	+	1	711	c.624C>T	c.(622-624)gtC>gtT	p.V208V	CHD9_ENST00000564845.1_Silent_p.V208V|CHD9_ENST00000566029.1_Silent_p.V208V|CHD9_ENST00000447540.1_Silent_p.V208V			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	208				V -> A (in Ref. 3; AAT66509). {ECO:0000305}.	cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CACATAGAGTCAATGTTAACC	0.388																																						ENST00000566029.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(622-624)gtC>gtT		chromodomain helicase DNA binding protein 9							152.0	145.0	147.0					16																	53190625		1871	4108	5979	SO:0001819	synonymous_variant	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53190625C>T	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.624C>T	16.37:g.53190625C>T			Somatic				CHD9_ENST00000398510.3_Silent_p.V208V|CHD9_ENST00000564845.1_Silent_p.V208V|CHD9_ENST00000447540.1_Silent_p.V208V	p.V208V			WXS	Illumina GAIIx	Phase_I	Q3L8U1	CHD9_HUMAN			2	833	+		all_cancers(37;0.0212)	208	V -> A (in Ref. 3; AAT66509).				B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Silent	SNP	ENST00000398510.3	37	c.624C>T																																																																																					0.388	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		45	93	45	93	---	---	---	---
KIFC3	3801	broad.mit.edu	37	16	57803814	57803814	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr16:57803814C>A	ENST00000379655.4	-	8	1250	c.993G>T	c.(991-993)gaG>gaT	p.E331D	KIFC3_ENST00000445690.2_Missense_Mutation_p.E331D|KIFC3_ENST00000541240.1_Missense_Mutation_p.E353D|KIFC3_ENST00000539578.1_Missense_Mutation_p.E273D|KIFC3_ENST00000421376.2_Missense_Mutation_p.E192D|KIFC3_ENST00000540079.2_Missense_Mutation_p.E229D|KIFC3_ENST00000566975.1_5'Flank|KIFC3_ENST00000543930.1_Missense_Mutation_p.E192D|KIFC3_ENST00000562903.1_Missense_Mutation_p.E192D|KIFC3_ENST00000465878.2_Missense_Mutation_p.E192D	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	331					ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				GGGACTGCATCTCCTCCAGCA	0.597																																						ENST00000379655.4																			0				breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(991-993)gaG>gaT		kinesin family member C3							76.0	65.0	69.0					16																	57803814		2198	4300	6498	SO:0001583	missense	3801				epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity	g.chr16:57803814C>A	BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"""Kinesins"""	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000379655.4:c.993G>T	16.37:g.57803814C>A	ENSP00000368976:p.Glu331Asp		Somatic				KIFC3_ENST00000540079.2_Missense_Mutation_p.E229D|KIFC3_ENST00000445690.2_Missense_Mutation_p.E331D|KIFC3_ENST00000562903.1_Missense_Mutation_p.E192D|KIFC3_ENST00000541240.1_Missense_Mutation_p.E353D|KIFC3_ENST00000421376.2_Missense_Mutation_p.E192D|KIFC3_ENST00000543930.1_Missense_Mutation_p.E192D|KIFC3_ENST00000465878.2_Missense_Mutation_p.E192D|KIFC3_ENST00000539578.1_Missense_Mutation_p.E273D	p.E331D	NM_005550.3	NP_005541.3	WXS	Illumina GAIIx	Phase_I	Q9BVG8	KIFC3_HUMAN			8	1250	-		all_neural(199;0.224)	331					A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Missense_Mutation	SNP	ENST00000379655.4	37	c.993G>T	CCDS10789.2	.	.	.	.	.	.	.	.	.	.	C	28.2	4.903188	0.92035	.	.	ENSG00000140859	ENST00000379655;ENST00000445690;ENST00000421376;ENST00000541240;ENST00000540079;ENST00000543930;ENST00000539578	T;T;T;T;T;T;T	0.76839	-1.01;-0.99;-0.96;-1.02;-0.98;-1.05;-0.99	5.74	4.79	0.61399	.	0.000000	0.85682	D	0.000000	D	0.85448	0.5699	M	0.62723	1.935	0.53005	D	0.999966	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;1.0;0.999	D;D;D;D;D;D	0.91635	0.997;0.999;0.982;0.986;0.997;0.991	D	0.85663	0.1290	10	0.49607	T	0.09	.	13.243	0.60008	0.0:0.9232:0.0:0.0768	.	353;273;192;229;331;192	B7Z484;F5H4I9;B7Z896;F5H3M2;Q9BVG8;A8K6S2	.;.;.;.;KIFC3_HUMAN;.	D	331;331;192;353;229;192;273	ENSP00000368976:E331D;ENSP00000401696:E331D;ENSP00000396399:E192D;ENSP00000442008:E353D;ENSP00000438805:E229D;ENSP00000444012:E192D;ENSP00000444884:E273D	ENSP00000368976:E331D	E	-	3	2	KIFC3	56361315	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.937000	0.63513	1.433000	0.47394	0.655000	0.94253	GAG		0.597	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257329.2	NM_005550		6	35	6	35	---	---	---	---
RABEP1	9135	broad.mit.edu	37	17	5266210	5266210	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr17:5266210C>T	ENST00000546142.2	+	10	1754	c.1567C>T	c.(1567-1569)Cat>Tat	p.H523Y	RABEP1_ENST00000408982.2_Missense_Mutation_p.H523Y|RABEP1_ENST00000537505.1_Missense_Mutation_p.H480Y|NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000262477.6_Missense_Mutation_p.H523Y|RABEP1_ENST00000341923.6_Missense_Mutation_p.H523Y|RP11-420A6.2_ENST00000572792.1_RNA			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	523					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						CCTTCAGGTACATAATGCTGG	0.398																																						ENST00000262477.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(1567-1569)Cat>Tat		rabaptin, RAB GTPase binding effector protein 1							110.0	106.0	107.0					17																	5266210		1926	4143	6069	SO:0001583	missense	9135				apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity	g.chr17:5266210C>T	AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.1567C>T	17.37:g.5266210C>T	ENSP00000437701:p.His523Tyr		Somatic				RABEP1_ENST00000546142.2_Missense_Mutation_p.H523Y|RABEP1_ENST00000408982.2_Missense_Mutation_p.H523Y|RABEP1_ENST00000537505.1_Missense_Mutation_p.H480Y|RABEP1_ENST00000341923.6_Missense_Mutation_p.H523Y|NUP88_ENST00000573169.1_Intron	p.H523Y	NM_004703.4	NP_004694.2	WXS	Illumina GAIIx	Phase_I	Q15276	RABE1_HUMAN			10	1791	+			523					B2RAG7|O95369|Q8IVX3	Missense_Mutation	SNP	ENST00000546142.2	37	c.1567C>T	CCDS45592.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.807667	0.50421	.	.	ENSG00000029725	ENST00000262477;ENST00000408982;ENST00000539669;ENST00000546142;ENST00000341923;ENST00000537505	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	5.75	4.78	0.61160	Rabaptin coiled-coil domain (1);	0.214808	0.48286	N	0.000197	T	0.27731	0.0682	N	0.08118	0	0.80722	D	1	B;B;B;B;B	0.23937	0.077;0.0;0.094;0.094;0.077	B;B;B;B;B	0.28991	0.058;0.001;0.097;0.06;0.036	T	0.11591	-1.0581	10	0.52906	T	0.07	-8.6649	14.5117	0.67791	0.0:0.9294:0.0:0.0706	.	480;480;516;523;523	F5H355;B4DMM4;Q05BX6;Q15276;Q15276-2	.;.;.;RABE1_HUMAN;.	Y	523;523;516;523;523;480	ENSP00000262477:H523Y;ENSP00000386150:H523Y;ENSP00000437701:H523Y;ENSP00000339569:H523Y;ENSP00000445408:H480Y	ENSP00000262477:H523Y	H	+	1	0	RABEP1	5206934	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	4.762000	0.62250	1.586000	0.49944	0.655000	0.94253	CAT		0.398	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439349.1	NM_004703		11	25	11	25	---	---	---	---
ELP5	23587	broad.mit.edu	37	17	7160288	7160288	+	Silent	SNP	G	G	A	rs145471666		TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr17:7160288G>A	ENST00000396628.2	+	5	787	c.570G>A	c.(568-570)ctG>ctA	p.L190L	ELP5_ENST00000354429.2_Silent_p.L190L|ELP5_ENST00000356683.2_Silent_p.L190L|ELP5_ENST00000396627.2_Silent_p.L190L|ELP5_ENST00000574993.1_Silent_p.L190L|RP1-4G17.5_ENST00000577138.1_Intron	NM_203414.1	NP_981959.1	Q8TE02	ELP5_HUMAN	elongator acetyltransferase complex subunit 5	190					chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Elongator holoenzyme complex (GO:0033588)|nucleus (GO:0005634)											AGGTGACCCTGGGCGGTACCA	0.607																																						ENST00000574993.1																			0											c.(568-570)ctG>ctA		elongator acetyltransferase complex subunit 5							48.0	43.0	45.0					17																	7160288		2203	4300	6503	SO:0001819	synonymous_variant	23587							g.chr17:7160288G>A	BC002762	CCDS11094.1, CCDS11095.1	17p13.1	2012-08-14	2012-08-08	2012-08-08	ENSG00000170291	ENSG00000170291		"""Elongator acetyltransferase complex subunits"""	30617	protein-coding gene	gene with protein product	"""dermal papilla derived protein 6"", ""S-phase 2 protein"""	615019	"""chromosome 17 open reading frame 81"""	C17orf81		22854966	Standard	NM_203415		Approved	DERP6	uc002gfi.1	Q8TE02	OTTHUMG00000177974	ENST00000396628.2:c.570G>A	17.37:g.7160288G>A			Somatic				ELP5_ENST00000354429.2_Silent_p.L190L|ELP5_ENST00000396628.2_Silent_p.L190L|ELP5_ENST00000356683.2_Silent_p.L190L|RP1-4G17.5_ENST00000577138.1_Intron|ELP5_ENST00000396627.2_Silent_p.L190L	p.L190L			WXS	Illumina GAIIx	Phase_I					5	787	+								A8K1M5|D3DTN9|Q659B6|Q7Z2T4|Q8TDR9|Q9BUB2|Q9Y2Q4	Silent	SNP	ENST00000396628.2	37	c.570G>A	CCDS11094.1																																																																																				0.607	ELP5-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440111.1	NM_015362		3	30	3	30	---	---	---	---
FBXW10	10517	broad.mit.edu	37	17	18651268	18651268	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr17:18651268A>T	ENST00000395665.4	+	2	741	c.520A>T	c.(520-522)Atc>Ttc	p.I174F	FBXW10_ENST00000301938.4_Missense_Mutation_p.I174F|FBXW10_ENST00000308799.4_Missense_Mutation_p.I174F|FBXW10_ENST00000395667.1_Missense_Mutation_p.I174F			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	174										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						CAATCAAGACATCACAGATGT	0.453																																						ENST00000308799.4																			0				NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(520-522)Atc>Ttc		F-box and WD repeat domain containing 10							35.0	36.0	36.0					17																	18651268		2201	4295	6496	SO:0001583	missense	10517							g.chr17:18651268A>T	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1211	protein-coding gene	gene with protein product		611679	"""chromosome 17 open reading frame 1A"", ""F-box and WD-40 domain protein 10"""	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.520A>T	17.37:g.18651268A>T	ENSP00000379025:p.Ile174Phe		Somatic				FBXW10_ENST00000301938.4_Missense_Mutation_p.I174F|FBXW10_ENST00000395665.4_Missense_Mutation_p.I174F|FBXW10_ENST00000395667.1_Missense_Mutation_p.I174F	p.I174F			WXS	Illumina GAIIx	Phase_I	Q5XX13	FBW10_HUMAN			2	739	+			174					C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	ENST00000395665.4	37	c.520A>T	CCDS11199.3	.	.	.	.	.	.	.	.	.	.	A	0.007	-1.935354	0.00484	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	2.08	-4.17	0.03857	WD40/YVTN repeat-like-containing domain (1);	1.124920	0.06838	U	0.795179	T	0.12646	0.0307	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.04013	0.001;0.001;0.0;0.001	T	0.29792	-1.0000	10	0.09590	T	0.72	.	4.8982	0.13760	0.6348:0.0:0.1547:0.2104	.	174;174;174;174	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	F	174	ENSP00000379026:I174F;ENSP00000310382:I174F;ENSP00000306937:I174F;ENSP00000379025:I174F	ENSP00000306937:I174F	I	+	1	0	FBXW10	18591993	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-1.698000	0.01908	-2.994000	0.00278	-0.540000	0.04249	ATC		0.453	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456		10	22	10	22	---	---	---	---
LEPREL4	10609	broad.mit.edu	37	17	39967427	39967427	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr17:39967427A>C	ENST00000355468.3	-	3	1038	c.572T>G	c.(571-573)gTc>gGc	p.V191G	LEPREL4_ENST00000393928.1_Missense_Mutation_p.V191G|FKBP10_ENST00000321562.4_5'Flank			Q92791	SC65_HUMAN	leprecan-like 4	191					synaptonemal complex assembly (GO:0007130)	condensed nuclear chromosome (GO:0000794)|nucleolus (GO:0005730)|synaptonemal complex (GO:0000795)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						CTCGTCGGCGACGTCCAGCAT	0.627																																						ENST00000355468.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						c.(571-573)gTc>gGc		leprecan-like 4							167.0	172.0	170.0					17																	39967427		2203	4300	6503	SO:0001583	missense	10609				synaptonemal complex assembly	nucleolus|synaptonemal complex	binding	g.chr17:39967427A>C	BC001047	CCDS11408.1	17q12	2013-05-03	2002-08-29		ENSG00000141696	ENSG00000141696			16946	protein-coding gene	gene with protein product			"""nucleolar autoantigen (55kD)"", ""rat synaptonemal complex protein"""			8862517	Standard	NM_006455		Approved	SC65, NO55	uc002hxt.3	Q92791	OTTHUMG00000133501	ENST00000355468.3:c.572T>G	17.37:g.39967427A>C	ENSP00000347649:p.Val191Gly		Somatic				LEPREL4_ENST00000393928.1_Missense_Mutation_p.V191G	p.V191G			WXS	Illumina GAIIx	Phase_I	Q92791	SC65_HUMAN			3	1038	-			191					Q53GI6|Q9H4F6	Missense_Mutation	SNP	ENST00000355468.3	37	c.572T>G	CCDS11408.1	.	.	.	.	.	.	.	.	.	.	A	8.537	0.872265	0.17322	.	.	ENSG00000141696	ENST00000355468;ENST00000393928;ENST00000545545	T;T	0.61859	0.07;0.07	4.91	-0.152	0.13407	Tetratricopeptide-like helical (1);	0.643004	0.15463	N	0.261047	T	0.48874	0.1524	M	0.72894	2.215	0.19300	N	0.999979	B;B	0.19200	0.034;0.004	B;B	0.22601	0.04;0.015	T	0.51204	-0.8735	10	0.87932	D	0	-3.3553	1.573	0.02618	0.5395:0.1712:0.1222:0.1671	.	180;191	B4DVZ5;Q92791	.;SC65_HUMAN	G	191;191;180	ENSP00000347649:V191G;ENSP00000377505:V191G	ENSP00000347649:V191G	V	-	2	0	LEPREL4	37220953	0.921000	0.31238	0.000000	0.03702	0.267000	0.26476	4.019000	0.57181	0.089000	0.17243	-0.313000	0.08912	GTC		0.627	LEPREL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257439.2			84	186	84	186	---	---	---	---
ABCA5	23461	broad.mit.edu	37	17	67270183	67270183	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr17:67270183T>A	ENST00000392676.3	-	20	2745	c.2681A>T	c.(2680-2682)aAa>aTa	p.K894I	ABCA5_ENST00000392677.2_Missense_Mutation_p.K894I|ABCA5_ENST00000588877.1_Missense_Mutation_p.K894I			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	894					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	TGGAACAAGTTTGATGGGAAC	0.333																																						ENST00000392676.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54						c.(2680-2682)aAa>aTa		ATP-binding cassette, sub-family A (ABC1), member 5							93.0	95.0	95.0					17																	67270183		2203	4300	6503	SO:0001583	missense	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67270183T>A	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.2681A>T	17.37:g.67270183T>A	ENSP00000376443:p.Lys894Ile		Somatic				ABCA5_ENST00000392677.2_Missense_Mutation_p.K894I|ABCA5_ENST00000588877.1_Missense_Mutation_p.K894I	p.K894I			WXS	Illumina GAIIx	Phase_I	Q8WWZ7	ABCA5_HUMAN			20	2745	-	Breast(10;3.72e-11)		894					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	c.2681A>T	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	T	16.26	3.073455	0.55646	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.86956	-2.19;-2.19	5.62	3.41	0.39046	.	0.400976	0.24499	N	0.037984	D	0.85635	0.5742	L	0.47716	1.5	0.31302	N	0.68824	P;P	0.47604	0.898;0.731	P;P	0.50791	0.65;0.462	D	0.83733	0.0199	9	.	.	.	.	8.9611	0.35847	0.0:0.2078:0.0:0.7922	.	894;894	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	I	894	ENSP00000376444:K894I;ENSP00000376443:K894I	.	K	-	2	0	ABCA5	64781778	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	1.094000	0.30951	1.072000	0.40860	0.477000	0.44152	AAA		0.333	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		19	62	19	62	---	---	---	---
ZNF93	81931	broad.mit.edu	37	19	20044389	20044389	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr19:20044389G>A	ENST00000343769.5	+	4	653	c.625G>A	c.(625-627)Gcc>Acc	p.A209T	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	209					regulation of transcription, DNA-templated (GO:0006355)|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)			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						ATGTGGCAAAGCCTTTAAGTA	0.373																																						ENST00000343769.5																			0				endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						c.(625-627)Gcc>Acc		zinc finger protein 93							37.0	39.0	38.0					19																	20044389		2203	4298	6501	SO:0001583	missense	81931					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:20044389G>A	M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"""Zinc fingers, C2H2-type"", ""-"""	13169	protein-coding gene	gene with protein product		603975	"""zinc finger protein 505"", ""zinc finger protein 93 (HTF34)"""	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371	ENST00000343769.5:c.625G>A	19.37:g.20044389G>A	ENSP00000342002:p.Ala209Thr		Somatic				AC007204.2_ENST00000592245.1_lincRNA	p.A209T	NM_031218.3	NP_112495.2	WXS	Illumina GAIIx	Phase_I	P35789	ZNF93_HUMAN			4	653	+			209					A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	Missense_Mutation	SNP	ENST00000343769.5	37	c.625G>A	CCDS32973.1	.	.	.	.	.	.	.	.	.	.	g	15.64	2.893739	0.52121	.	.	ENSG00000184635	ENST00000343769;ENST00000427325	T	0.36157	1.27	0.832	0.832	0.18867	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32734	0.0839	L	0.28776	0.89	0.20074	N	0.999937	P	0.45283	0.855	P	0.50617	0.646	T	0.15435	-1.0437	9	0.37606	T	0.19	.	6.9563	0.24574	0.0:0.0:1.0:0.0	.	209	P35789	ZNF93_HUMAN	T	209	ENSP00000342002:A209T	ENSP00000342002:A209T	A	+	1	0	ZNF93	19905389	0.000000	0.05858	0.613000	0.29037	0.613000	0.37349	-0.541000	0.06099	0.171000	0.19730	0.174000	0.16983	GCC		0.373	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460808.2	NM_031218		13	20	13	20	---	---	---	---
KIR3DX1	90011	broad.mit.edu	37	19	55048334	55048334	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr19:55048334G>A	ENST00000335056.3	+	5	939	c.901G>A	c.(901-903)Gac>Aac	p.D301N	KIR3DX1_ENST00000482404.1_3'UTR			Q9H7L2	KI3X1_HUMAN	killer cell immunoglobulin-like receptor, three domains, X1	301	Ig-like C2-type 2.					extracellular region (GO:0005576)				endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		TTCCTTCAATGACTCTCCCTA	0.577																																					Colon(183;529 2002 28270 32358 35845)|Esophageal Squamous(50;443 1006 2278 10294 37938)	ENST00000335056.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24						c.(901-903)Gac>Aac									82.0	79.0	80.0					19																	55048334		1936	4152	6088	SO:0001583	missense	90011							g.chr19:55048334G>A	BC033195		19q13.42	2013-03-26	2006-09-12	2006-09-12	ENSG00000104970	ENSG00000104970		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	25043	other	unknown			"""leukocyte receptor cluster (LRC) member 12"""	LENG12		11441184	Standard	NR_026716		Approved	FLJ00060	uc010erm.2	Q9H7L2	OTTHUMG00000065696	ENST00000335056.3:c.901G>A	19.37:g.55048334G>A	ENSP00000335388:p.Asp301Asn		Somatic				KIR3DX1_ENST00000482404.1_3'UTR	p.D301N			WXS	Illumina GAIIx	Phase_I				GBM - Glioblastoma multiforme(193;0.099)	5	939	+								B7WNL0|Q8N0S4	Missense_Mutation	SNP	ENST00000335056.3	37	c.901G>A		.	.	.	.	.	.	.	.	.	.	G	0.026	-1.372486	0.01214	.	.	ENSG00000104970	ENST00000335056	T	0.00691	5.84	1.79	-3.58	0.04597	Immunoglobulin-like fold (1);	.	.	.	.	T	0.00552	0.0018	.	.	.	0.09310	N	1	P	0.35383	0.498	B	0.32762	0.152	T	0.36040	-0.9764	8	0.40728	T	0.16	.	0.0675	0.00019	0.2735:0.2401:0.2202:0.2662	.	301	Q9H7L2	KI3X1_HUMAN	N	301	ENSP00000335388:D301N	ENSP00000221567:D301N	D	+	1	0	KIR3DX1	59740146	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.725000	0.01863	-3.320000	0.00188	-1.316000	0.01300	GAC		0.577	KIR3DX1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000140800.2	NR_026716		37	64	37	64	---	---	---	---
ZNFX1	57169	broad.mit.edu	37	20	47866085	47866085	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr20:47866085G>T	ENST00000396105.1	-	14	3722	c.3476C>A	c.(3475-3477)aCc>aAc	p.T1159N	ZNFX1_ENST00000371752.1_Missense_Mutation_p.T1159N|ZNFX1_ENST00000371754.4_Intron	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1159							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCCGGTATAGGTAGTGAGGAT	0.517																																						ENST00000396105.1																			0				cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(3475-3477)aCc>aAc		zinc finger, NFX1-type containing 1							131.0	124.0	126.0					20																	47866085		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47866085G>T	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.3476C>A	20.37:g.47866085G>T	ENSP00000379412:p.Thr1159Asn		Somatic				ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Missense_Mutation_p.T1159N	p.T1159N	NM_021035.2	NP_066363.1	WXS	Illumina GAIIx	Phase_I	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		14	3722	-			1159					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.3476C>A	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978949	0.74360	.	.	ENSG00000124201	ENST00000371752;ENST00000396105	D;D	0.81996	-1.56;-1.56	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.93664	0.7976	H	0.94423	3.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92813	0.6266	10	0.32370	T	0.25	-25.1689	18.9133	0.92494	0.0:0.0:1.0:0.0	.	1159	Q9P2E3	ZNFX1_HUMAN	N	1159	ENSP00000360817:T1159N;ENSP00000379412:T1159N	ENSP00000360817:T1159N	T	-	2	0	ZNFX1	47299492	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.005000	0.88553	2.814000	0.96858	0.591000	0.81541	ACC		0.517	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		7	80	7	80	---	---	---	---
SS18L1	26039	broad.mit.edu	37	20	60737905	60737905	+	Silent	SNP	C	C	A			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr20:60737905C>A	ENST00000331758.3	+	5	500	c.474C>A	c.(472-474)gcC>gcA	p.A158A	SS18L1_ENST00000421564.1_Silent_p.A158A|SS18L1_ENST00000370848.4_Silent_p.A161A|SS18L1_ENST00000491916.1_3'UTR	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	158	Methionine-rich intra-molecular domain. {ECO:0000250}.				chromatin modification (GO:0016568)|dendrite development (GO:0016358)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of dendrite development (GO:0050773)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)|kinetochore (GO:0000776)|nuclear body (GO:0016604)|nucleus (GO:0005634)			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			CGGGACCCGCCTCGCAGGGCG	0.652			T	SSX1	synovial sarcoma																																	ENST00000331758.3				Dom	yes		20	20q13.3	26039	T	synovial sarcoma translocation gene on chromosome 18-like 1			M	SSX1		synovial sarcoma	SS18L1/SSX1(2)	0				ovary(2)|skin(1)	3						c.(472-474)gcC>gcA		synovial sarcoma translocation gene on chromosome 18-like 1							44.0	37.0	39.0					20																	60737905		2203	4300	6503	SO:0001819	synonymous_variant	26039				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore		g.chr20:60737905C>A	AB014593	CCDS13491.1	20q13.3	2008-07-28			ENSG00000184402	ENSG00000184402			15592	protein-coding gene	gene with protein product		606472					Standard	XM_005260389		Approved	KIAA0693	uc002ycb.3	O75177	OTTHUMG00000032902	ENST00000331758.3:c.474C>A	20.37:g.60737905C>A			Somatic				SS18L1_ENST00000370848.4_Silent_p.A161A|SS18L1_ENST00000421564.1_Silent_p.A158A|SS18L1_ENST00000491916.1_3'UTR	p.A158A	NM_198935.1	NP_945173.1	WXS	Illumina GAIIx	Phase_I	O75177	CREST_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.92e-08)		5	500	+	Breast(26;3.97e-09)		158			Methionine-rich intra-molecular domain (By similarity).		A6NNE3|A8K620|B3KWR8|E1P5H7|Q5JXJ3|Q6MZV9|Q6NTH3|Q6XYD9|Q8NE69|Q9BR55|Q9H4K6	Silent	SNP	ENST00000331758.3	37	c.474C>A	CCDS13491.1																																																																																				0.652	SS18L1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080004.2			13	51	13	51	---	---	---	---
MYH9	4627	broad.mit.edu	37	22	36696287	36696287	+	Silent	SNP	C	C	T			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr22:36696287C>T	ENST00000216181.5	-	23	3092	c.2862G>A	c.(2860-2862)gaG>gaA	p.E954E		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	954					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CGCTCTCCTCCTCCTCCAGCT	0.627			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(2860-2862)gaG>gaA		myosin, heavy chain 9, non-muscle							58.0	57.0	57.0					22																	36696287		2203	4300	6503	SO:0001819	synonymous_variant	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36696287C>T		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.2862G>A	22.37:g.36696287C>T			Somatic					p.E954E	NM_002473.4	NP_002464.1	WXS	Illumina GAIIx	Phase_I	P35579	MYH9_HUMAN			23	3092	-			954					A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP	ENST00000216181.5	37	c.2862G>A	CCDS13927.1																																																																																				0.627	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		4	44	4	44	---	---	---	---
AWAT2	158835	broad.mit.edu	37	X	69261786	69261786	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chrX:69261786T>C	ENST00000276101.3	-	7	879	c.874A>G	c.(874-876)Att>Gtt	p.I292V		NM_001002254.1	NP_001002254.1	Q6E213	AWAT2_HUMAN	acyl-CoA wax alcohol acyltransferase 2	292					wax biosynthetic process (GO:0010025)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)|retinol O-fatty-acyltransferase activity (GO:0050252)			endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						GGATTCTCAATCTTGGGCATT	0.483																																					NSCLC(80;1334 1436 9350 24214 26427)	ENST00000276101.3																			0				endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						c.(874-876)Att>Gtt		acyl-CoA wax alcohol acyltransferase 2							131.0	100.0	111.0					X																	69261786		2203	4300	6503	SO:0001583	missense	158835					endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity	g.chrX:69261786T>C	BC063698	CCDS35320.1	Xq13.1	2009-02-23	2009-02-23	2009-02-23	ENSG00000147160	ENSG00000147160			23251	protein-coding gene	gene with protein product	"""multifunctional O-acyltransferase"""	300925	"""diacylglycerol O-acyltransferase 2-like 4"""	DGAT2L4		14970677, 16106050, 15671038	Standard	NM_001002254		Approved	MFAT	uc004dxt.1	Q6E213	OTTHUMG00000021763	ENST00000276101.3:c.874A>G	X.37:g.69261786T>C	ENSP00000421172:p.Ile292Val		Somatic					p.I292V	NM_001002254.1	NP_001002254.1	WXS	Illumina GAIIx	Phase_I	Q6E213	AWAT2_HUMAN			7	879	-			292					Q6IEE3|Q6P437	Missense_Mutation	SNP	ENST00000276101.3	37	c.874A>G	CCDS35320.1	.	.	.	.	.	.	.	.	.	.	T	11.64	1.698937	0.30142	.	.	ENSG00000147160	ENST00000276101	D	0.93426	-3.22	4.83	3.67	0.42095	.	0.082300	0.51477	D	0.000094	D	0.86100	0.5852	L	0.28115	0.83	0.39216	D	0.963402	B	0.25169	0.119	B	0.28849	0.095	T	0.77233	-0.2663	10	0.13470	T	0.59	.	7.6953	0.28592	0.0:0.1016:0.0:0.8984	.	292	Q6E213	AWAT2_HUMAN	V	292	ENSP00000421172:I292V	ENSP00000421172:I292V	I	-	1	0	AWAT2	69178511	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.460000	0.53028	0.792000	0.33850	0.486000	0.48141	ATT		0.483	AWAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358738.1	NM_001002254		18	23	18	23	---	---	---	---
IL13RA1	3597	broad.mit.edu	37	X	117895121	117895121	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chrX:117895121A>G	ENST00000371666.3	+	6	764	c.697A>G	c.(697-699)Att>Gtt	p.I233V	IL13RA1_ENST00000481868.1_3'UTR|IL13RA1_ENST00000371642.1_Missense_Mutation_p.I233V	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	233	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin production (GO:0002639)	interleukin-13 receptor complex (GO:0005898)|plasma membrane (GO:0005886)	interleukin-13 receptor activity (GO:0016515)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						TCCTCCACATATTAAAAACCT	0.368																																						ENST00000371666.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						c.(697-699)Att>Gtt		interleukin 13 receptor, alpha 1							131.0	132.0	132.0					X																	117895121		2203	4300	6503	SO:0001583	missense	3597					interleukin-13 receptor complex	cytokine receptor activity	g.chrX:117895121A>G	U62858	CCDS14573.1	Xq24	2008-02-05			ENSG00000131724	ENSG00000131724		"""Interleukins and interleukin receptors"", ""CD molecules"""	5974	protein-coding gene	gene with protein product	"""IL13 receptor alpha-1 chain"", ""CD213a1 antigen"""	300119				8910586, 9013879	Standard	NM_001560		Approved	IL-13Ra, NR4, CD213a1	uc004eqs.3	P78552	OTTHUMG00000022258	ENST00000371666.3:c.697A>G	X.37:g.117895121A>G	ENSP00000360730:p.Ile233Val		Somatic				IL13RA1_ENST00000481868.1_3'UTR|IL13RA1_ENST00000371642.1_Missense_Mutation_p.I233V	p.I233V	NM_001560.2	NP_001551.1	WXS	Illumina GAIIx	Phase_I	P78552	I13R1_HUMAN			6	764	+			233					O95646|Q5JSL4|Q99656|Q9UDY5	Missense_Mutation	SNP	ENST00000371666.3	37	c.697A>G	CCDS14573.1	.	.	.	.	.	.	.	.	.	.	A	13.67	2.305926	0.40795	.	.	ENSG00000131724	ENST00000371666;ENST00000371642	D;D	0.85773	-2.03;-2.03	5.94	3.42	0.39159	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.146541	0.46442	N	0.000297	T	0.79221	0.4409	M	0.62723	1.935	0.80722	D	1	P;P;P	0.41475	0.461;0.461;0.751	B;B;B	0.40982	0.123;0.123;0.345	T	0.71649	-0.4529	10	0.15952	T	0.53	-18.6493	5.0552	0.14529	0.722:0.1766:0.1014:0.0	.	233;233;233	Q5JSL4;P78552;Q9UDY5	.;I13R1_HUMAN;.	V	233	ENSP00000360730:I233V;ENSP00000360705:I233V	ENSP00000360705:I233V	I	+	1	0	IL13RA1	117779149	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	1.916000	0.39986	0.840000	0.34995	0.483000	0.47432	ATT		0.368	IL13RA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058009.1	NM_001560		57	14	57	14	---	---	---	---
AMBP	259	broad.mit.edu	37	9	116825038	116825054	+	Splice_Site	DEL	TCTGCGGGGGAGAGAAA	TCTGCGGGGGAGAGAAA	-	rs372370283|rs374698399|rs369265422		TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr9:116825038_116825054delTCTGCGGGGGAGAGAAA	ENST00000265132.3	-	7	866	c.604delTTTCTCTCCCCCGCAGA	c.(604-606)ttt>tt	p.F202fs		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	202					cell adhesion (GO:0007155)|female pregnancy (GO:0007565)|heme catabolic process (GO:0042167)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of JNK cascade (GO:0046329)|protein catabolic process (GO:0030163)|protein-chromophore linkage (GO:0018298)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|calcium oxalate binding (GO:0046904)|heme binding (GO:0020037)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)|small molecule binding (GO:0036094)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CTCCGGACTCTCTGCGGGGGAGAGAAAGAGAAGAAGC	0.498																																						ENST00000265132.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11						c.(604-606)ttt>tt		alpha-1-microglobulin/bikunin precursor	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)																																			SO:0001630	splice_region_variant	259				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity	g.chr9:116825038_116825054delTCTGCGGGGGAGAGAAA	X04494	CCDS6800.1	9q32-q33	2014-01-22			ENSG00000106927	ENSG00000106927		"""Lipocalins"""	453	protein-coding gene	gene with protein product	"""growth-inhibiting protein 19"", ""uristatin"", ""complex-forming glycoprotein heterogeneous in charge"", ""bikunin"", ""inter-alpha-trypsin inhibitor light chain"", ""protein HC"", ""uronic-acid-rich protein"", ""trypstatin"""	176870		ITI, ITIL		1708673, 1385302	Standard	NM_001633		Approved	UTI, HCP, EDC1, HI30, IATIL, ITILC	uc004bie.4	P02760	OTTHUMG00000020534	ENST00000265132.3:c.604-1TTTCTCTCCCCCGCAGA>-	9.37:g.116825038_116825054delTCTGCGGGGGAGAGAAA			Somatic					p.F202fs	NM_001633.3	NP_001624.1	WXS	Illumina GAIIx	Phase_I	P02760	AMBP_HUMAN			7	866	-			202					P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	Splice_Site	DEL	ENST00000265132.3	37	c.604delTTTCTCTCCCCCGCAGA	CCDS6800.1																																																																																				0.498	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053758.2	NM_001633	Frame_Shift_Del	7	63	7	63	---	---	---	---
OR4F6	390648	broad.mit.edu	37	15	102346462	102346470	+	In_Frame_Del	DEL	TCTTCCTCG	TCTTCCTCG	-	rs372436170|rs368805567		TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr15:102346462_102346470delTCTTCCTCG	ENST00000328882.4	+	1	561_569	c.540_548delTCTTCCTCG	c.(538-549)gatcttcctcga>gaa	p.180_183DLPR>E		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	180						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TCTTTTGTGATCTTCCTCGATTTATCAAA	0.368																																						ENST00000328882.4																			0				breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(538-549)gatcttcctcga>gaa		olfactory receptor, family 4, subfamily F, member 6																																				SO:0001651	inframe_deletion	390648				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:102346462_102346470delTCTTCCTCG	AC025234	CCDS32341.1	15q26.3	2014-02-19	2002-02-28		ENSG00000184140	ENSG00000184140		"""GPCR / Class A : Olfactory receptors"""	15372	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily F, member 12"""	OR4F12			Standard	NM_001005326		Approved		uc010utr.2	Q8NGB9	OTTHUMG00000172267	ENST00000328882.4:c.540_548delTCTTCCTCG	15.37:g.102346462_102346470delTCTTCCTCG	ENSP00000327525:p.Asp180_Arg183delinsGlu		Somatic					p.180_183DLPR>E	NM_001005326.1	NP_001005326.1	WXS	Illumina GAIIx	Phase_I	Q8NGB9	OR4F6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)		1	561_569	+	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		180					B9EH28|Q6IF95	In_Frame_Del	DEL	ENST00000328882.4	37	c.540_548delTCTTCCTCG	CCDS32341.1																																																																																				0.368	OR4F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417593.1			14	108	14	108	---	---	---	---
ZNF287	57336	broad.mit.edu	37	17	16455883	16455885	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr17:16455883_16455885delGAA	ENST00000395824.1	-	6	2188_2190	c.1571_1573delTTC	c.(1570-1575)cttcag>cag	p.L524del	ZNF287_ENST00000395825.3_In_Frame_Del_p.L524del			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	517					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)		TTTTGATGCTGAAGAAGGTGTGT	0.35																																						ENST00000395824.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20						c.(1570-1575)cttcag>cag		zinc finger protein 287																																				SO:0001651	inframe_deletion	57336				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:16455883_16455885delGAA	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.1571_1573delTTC	17.37:g.16455886_16455888delGAA	ENSP00000379168:p.Leu524del		Somatic				ZNF287_ENST00000395825.3_In_Frame_Del_p.L524del	p.L524del			WXS	Illumina GAIIx	Phase_I	Q9HBT7	ZN287_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.083)	6	2188_2190	-			517					Q6IAG1	In_Frame_Del	DEL	ENST00000395824.1	37	c.1571_1573delTTC	CCDS11179.2																																																																																				0.350	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130504.1			23	74	23	74	---	---	---	---
