#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TTN	7273	broad.mit.edu	37	2	179463526	179463526	+	Missense_Mutation	SNP	C	C	T	rs373153121		TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr2:179463526C>T	ENST00000591111.1	-	241	52212	c.51988G>A	c.(51988-51990)Gtg>Atg	p.V17330M	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V18971M|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V16403M|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V10098M|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V10031M|TTN_ENST00000460472.2_Missense_Mutation_p.V9906M			Q8WZ42	TITIN_HUMAN	titin	17330	Fibronectin type-III 25. {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)			GCTGGACCCACGCCAGCAGCA	0.428																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(56911-56913)Gtg>Atg		titin		C	MET/VAL,MET/VAL,MET/VAL,MET/VAL	0,3760		0,0,1880	151.0	150.0	151.0		29716,49207,30091,30292	5.2	1.0	2		151	2,8190		0,2,4094	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	21,21,21,21	0,2,5974	TT,TC,CC		0.0244,0.0,0.0167	probably-damaging,probably-damaging,probably-damaging,probably-damaging	9906/26927,16403/33424,10031/27052,10098/27119	179463526	2,11950	1880	4096	5976	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179463526C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.51988G>A	2.37:g.179463526C>T	ENSP00000465570:p.Val17330Met					TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V17330M|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V10098M|TTN_ENST00000342992.6_Missense_Mutation_p.V16403M|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V10031M|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V9906M	p.V18971M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		291	57135	-			17330			Fibronectin type-III 37.		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.56911G>A		.	.	.	.	.	.	.	.	.	.	C	12.41	1.929785	0.34096	0.0	2.44E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	6.05	5.17	0.71159	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62097	0.2400	L	0.35593	1.075	0.43719	D	0.996196	P;P;P;D	0.89917	0.841;0.841;0.841;1.0	B;B;P;D	0.67382	0.408;0.408;0.572;0.951	T	0.66436	-0.5924	9	0.87932	D	0	.	15.6409	0.77001	0.0:0.9338:0.0:0.0662	.	9906;10031;10098;17330	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	16403;9906;10098;10031;9904	ENSP00000343764:V16403M;ENSP00000434586:V9906M;ENSP00000340554:V10098M;ENSP00000352154:V10031M	ENSP00000340554:V10098M	V	-	1	0	TTN	179171771	0.996000	0.38824	1.000000	0.80357	0.927000	0.56198	2.547000	0.45786	1.547000	0.49401	0.650000	0.86243	GTG		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		18	235	0	0	0	0.000958276	0	18	235				
MEP1A	4224	broad.mit.edu	37	6	46793078	46793078	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr6:46793078A>C	ENST00000230588.4	+	8	635	c.626A>C	c.(625-627)gAg>gCg	p.E209A		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	209	Metalloprotease.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TATGATTATGAGTCTTTGATG	0.443																																						ENST00000230588.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(625-627)gAg>gCg		meprin A, alpha (PABA peptide hydrolase)							196.0	167.0	177.0					6																	46793078		2203	4300	6503	SO:0001583	missense	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46793078A>C		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.626A>C	6.37:g.46793078A>C	ENSP00000230588:p.Glu209Ala						p.E209A	NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	Lung(136;0.192)		8	635	+			209			Metalloprotease.		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	ENST00000230588.4	37	c.626A>C	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	A	15.17	2.754909	0.49362	.	.	ENSG00000112818	ENST00000230588	T	0.62232	0.04	6.16	4.99	0.66335	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (2);Metallopeptidase, catalytic domain (1);	0.043102	0.85682	D	0.000000	T	0.60379	0.2264	L	0.43152	1.355	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74674	0.984;0.984	T	0.59495	-0.7444	10	0.24483	T	0.36	-36.9945	13.5978	0.62000	0.8704:0.1296:0.0:0.0	.	237;209	B7ZL91;Q16819	.;MEP1A_HUMAN	A	209	ENSP00000230588:E209A	ENSP00000230588:E209A	E	+	2	0	MEP1A	46901037	1.000000	0.71417	0.897000	0.35233	0.530000	0.34684	7.318000	0.79029	1.120000	0.41904	0.528000	0.53228	GAG		0.443	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588		5	85	0	0	0	8.12818e-05	0	5	85				
TRPM6	140803	broad.mit.edu	37	9	77377204	77377204	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr9:77377204A>C	ENST00000360774.1	-	26	4620	c.4383T>G	c.(4381-4383)gaT>gaG	p.D1461E	TRPM6_ENST00000361255.3_Missense_Mutation_p.D1456E|TRPM6_ENST00000449912.2_Missense_Mutation_p.D1456E|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.D1461E|TRPM6_ENST00000451710.3_Missense_Mutation_p.D1461E|TRPM6_ENST00000376872.3_Intron	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1461					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CACCAGTTTCATCACCTTCTG	0.493																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(4381-4383)gaT>gaG		transient receptor potential cation channel, subfamily M, member 6							119.0	118.0	118.0					9																	77377204		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77377204A>C	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.4383T>G	9.37:g.77377204A>C	ENSP00000354006:p.Asp1461Glu					TRPM6_ENST00000376864.4_Missense_Mutation_p.D1461E|TRPM6_ENST00000360774.1_Missense_Mutation_p.D1461E|TRPM6_ENST00000449912.2_Missense_Mutation_p.D1456E|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.D1456E|TRPM6_ENST00000376871.3_Intron	p.D1461E			Q9BX84	TRPM6_HUMAN			26	4620	-			1461					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.4383T>G	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	A	10.85	1.467388	0.26335	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864	T;T;T;T;T	0.58060	0.46;0.45;0.46;0.46;0.36	5.81	4.67	0.58626	.	0.526636	0.20846	N	0.084606	T	0.27524	0.0676	N	0.08118	0	0.36129	D	0.845976	B;B;B	0.28350	0.067;0.208;0.11	B;B;B	0.27170	0.028;0.077;0.063	T	0.19877	-1.0292	10	0.21540	T	0.41	.	5.596	0.17327	0.6716:0.0:0.0715:0.2569	.	1461;1456;1456	Q9BX84;Q9BX84-3;Q9BX84-2	TRPM6_HUMAN;.;.	E	1461;1461;1456;1456;1461	ENSP00000354006:D1461E;ENSP00000407341:D1461E;ENSP00000396672:D1456E;ENSP00000354962:D1456E;ENSP00000366060:D1461E	ENSP00000354006:D1461E	D	-	3	2	TRPM6	76567024	1.000000	0.71417	0.991000	0.47740	0.129000	0.20672	1.197000	0.32211	1.034000	0.39945	0.533000	0.62120	GAT		0.493	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		44	98	0	0	0	0.000437636	0	44	98				
ST3GAL5	8869	broad.mit.edu	37	2	86067399	86067399	+	Silent	SNP	G	G	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr2:86067399G>A	ENST00000377332.3	-	7	1233	c.1125C>T	c.(1123-1125)ttC>ttT	p.F375F	ST3GAL5_ENST00000393808.3_Silent_p.F352F|ST3GAL5_ENST00000393805.1_Silent_p.F347F	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	375					carbohydrate metabolic process (GO:0005975)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	lactosylceramide alpha-2,3-sialyltransferase activity (GO:0047291)|neolactotetraosylceramide alpha-2,3-sialyltransferase activity (GO:0004513)|sialyltransferase activity (GO:0008373)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						ATTGACTGTCGAAGTAGTGCA	0.463																																						ENST00000377332.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						c.(1123-1125)ttC>ttT		ST3 beta-galactoside alpha-2,3-sialyltransferase 5							168.0	145.0	153.0					2																	86067399		2203	4300	6503	SO:0001819	synonymous_variant	8869				ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity	g.chr2:86067399G>A	AB018356	CCDS1986.2, CCDS42705.1	2p11.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000115525	ENSG00000115525	2.4.99.9	"""Sialyltransferases"""	10872	protein-coding gene	gene with protein product		604402	"""sialyltransferase 9 (CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase; GM3 synthase)"""	SIAT9		9822625	Standard	NM_003896		Approved	ST3GalV, SIATGM3S	uc002sqq.1	Q9UNP4	OTTHUMG00000130171	ENST00000377332.3:c.1125C>T	2.37:g.86067399G>A						ST3GAL5_ENST00000393805.1_Silent_p.F347F|ST3GAL5_ENST00000393808.3_Silent_p.F352F	p.F375F	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN			7	1233	-			375					B3KM82|D6W5L9|O94902|Q53QU1|Q6NZX4|Q6YFL1	Silent	SNP	ENST00000377332.3	37	c.1125C>T	CCDS1986.2																																																																																				0.463	ST3GAL5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252486.1	NM_003896		32	72	0	0	0	0.00058488	0	32	72				
PCDH11Y	83259	broad.mit.edu	37	Y	4967494	4967494	+	Silent	SNP	T	T	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chrY:4967494T>A	ENST00000333703.4	+	5	2355	c.1842T>A	c.(1840-1842)acT>acA	p.T614T	PCDH11Y_ENST00000362095.5_Silent_p.T625T|PCDH11Y_ENST00000215473.6_Silent_p.T625T	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	625	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GACTAATCACTGTAACTGATC	0.393																																						ENST00000333703.4																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1840-1842)acT>acA		protocadherin 11 Y-linked																																				SO:0001819	synonymous_variant	83259				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrY:4967494T>A	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"""Cadherins / Protocadherins : Non-clustered"""	15813	protein-coding gene	gene with protein product		400022	"""protocadherin 22"""	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000333703.4:c.1842T>A	Y.37:g.4967494T>A						PCDH11Y_ENST00000362095.5_Silent_p.T625T|PCDH11Y_ENST00000215473.6_Silent_p.T625T	p.T614T	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN			5	2355	+			625			Cadherin 6.		Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Silent	SNP	ENST00000333703.4	37	c.1842T>A	CCDS14776.1																																																																																				0.393	PCDH11Y-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084979.2	NM_032973		5	32	0	0	0	0.000602214	0	5	32				
FETUB	26998	broad.mit.edu	37	3	186362642	186362642	+	Missense_Mutation	SNP	C	C	G	rs149523201		TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr3:186362642C>G	ENST00000265029.3	+	4	628	c.527C>G	c.(526-528)gCg>gGg	p.A176G	RP11-134F2.2_ENST00000455926.1_RNA|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000450521.1_Missense_Mutation_p.A176G|FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000539949.1_Missense_Mutation_p.A28G|FETUB_ENST00000382134.3_Missense_Mutation_p.A111G|FETUB_ENST00000382136.3_Missense_Mutation_p.A139G	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	176	Cystatin fetuin-B-type 2. {ECO:0000255|PROSITE-ProRule:PRU00862}.				binding of sperm to zona pellucida (GO:0007339)|negative regulation of endopeptidase activity (GO:0010951)|single fertilization (GO:0007338)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		GAGTCTCTTGCGAAATACAAC	0.478																																						ENST00000265029.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20						c.(526-528)gCg>gGg		fetuin B							110.0	105.0	107.0					3																	186362642		2203	4300	6503	SO:0001583	missense	26998					extracellular space	cysteine-type endopeptidase inhibitor activity	g.chr3:186362642C>G	AJ242928	CCDS3279.1	3q27.3	2008-05-15			ENSG00000090512	ENSG00000090512			3658	protein-coding gene	gene with protein product		605954				10947975	Standard	XM_005247350		Approved		uc003fqn.3	Q9UGM5	OTTHUMG00000156586	ENST00000265029.3:c.527C>G	3.37:g.186362642C>G	ENSP00000265029:p.Ala176Gly					FETUB_ENST00000539949.1_Missense_Mutation_p.A28G|FETUB_ENST00000488561.1_3'UTR|RP11-134F2.2_ENST00000455926.1_RNA|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000450521.1_Missense_Mutation_p.A176G|FETUB_ENST00000382134.3_Missense_Mutation_p.A111G|FETUB_ENST00000382136.3_Missense_Mutation_p.A139G	p.A176G	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)	4	628	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		176			Cystatin fetuin-B-type 2.		B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Missense_Mutation	SNP	ENST00000265029.3	37	c.527C>G	CCDS3279.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.030901	0.54790	.	.	ENSG00000090512	ENST00000450521;ENST00000431018;ENST00000539949;ENST00000265029;ENST00000382134;ENST00000382136	T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6	5.29	1.03	0.20045	Proteinase inhibitor I25, cystatin (2);	0.194955	0.36374	N	0.002624	T	0.47173	0.1431	M	0.78223	2.4	0.29123	N	0.88011	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.75484	0.986;0.986;0.974	T	0.38308	-0.9667	10	0.62326	D	0.03	-3.8635	3.6035	0.08034	0.2918:0.4798:0.1424:0.0859	.	139;111;176	E9PG06;E9PG08;Q9UGM5	.;.;FETUB_HUMAN	G	176;28;28;176;111;139	ENSP00000404288:A176G;ENSP00000396581:A28G;ENSP00000443704:A28G;ENSP00000265029:A176G;ENSP00000371569:A111G;ENSP00000371571:A139G	ENSP00000265029:A176G	A	+	2	0	FETUB	187845336	0.371000	0.25056	0.943000	0.38184	0.588000	0.36517	-0.357000	0.07651	0.276000	0.22118	0.655000	0.94253	GCG		0.478	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344679.1	NM_014375		6	112	0	0	0	3.59834e-05	0	6	112				
ADCY8	114	broad.mit.edu	37	8	131848633	131848633	+	Silent	SNP	G	G	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr8:131848633G>A	ENST00000286355.5	-	12	4657	c.2565C>T	c.(2563-2565)tcC>tcT	p.S855S	ADCY8_ENST00000377928.3_Silent_p.S724S	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	855					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCTTCAGGACGGAGTTCAGCC	0.537										HNSCC(32;0.087)																												ENST00000286355.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(2563-2565)tcC>tcT		adenylate cyclase 8 (brain)							148.0	116.0	127.0					8																	131848633		2203	4300	6503	SO:0001819	synonymous_variant	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131848633G>A	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2565C>T	8.37:g.131848633G>A		HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Silent_p.S724S	p.S855S	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		12	4657	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		855						Silent	SNP	ENST00000286355.5	37	c.2565C>T	CCDS6363.1																																																																																				0.537	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			40	57	0	0	0	0.000270559	0	40	57				
LUZP1	7798	broad.mit.edu	37	1	23418232	23418232	+	Silent	SNP	A	A	G			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr1:23418232A>G	ENST00000302291.4	-	4	3324	c.2523T>C	c.(2521-2523)ccT>ccC	p.P841P	LUZP1_ENST00000418342.1_Silent_p.P841P|LUZP1_ENST00000374623.3_Silent_p.P841P|LUZP1_ENST00000314174.5_Silent_p.P841P			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	841					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		AGAGCTCAAAAGGGGAGCTGA	0.562																																						ENST00000302291.4																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31						c.(2521-2523)ccT>ccC		leucine zipper protein 1							90.0	86.0	87.0					1																	23418232		2203	4300	6503	SO:0001819	synonymous_variant	7798					nucleus		g.chr1:23418232A>G	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.2523T>C	1.37:g.23418232A>G						LUZP1_ENST00000374623.3_Silent_p.P841P|LUZP1_ENST00000418342.1_Silent_p.P841P|LUZP1_ENST00000314174.5_Silent_p.P841P	p.P841P			Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	3324	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	841					Q5TH93|Q8N4X3|Q8TEH1	Silent	SNP	ENST00000302291.4	37	c.2523T>C	CCDS30628.1																																																																																				0.562	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		3	104	0	0	0	6.4e-05	0	3	104				
PALMD	54873	broad.mit.edu	37	1	100154852	100154852	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr1:100154852A>T	ENST00000263174.4	+	7	1411	c.1036A>T	c.(1036-1038)Agg>Tgg	p.R346W	PALMD_ENST00000605497.1_Missense_Mutation_p.R346W	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	346					regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		CCCGCAAAAAAGGCTAATGAC	0.488																																						ENST00000263174.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31						c.(1036-1038)Agg>Tgg		palmdelphin							60.0	57.0	58.0					1																	100154852		2203	4300	6503	SO:0001583	missense	54873				regulation of cell shape	cytoplasm|membrane		g.chr1:100154852A>T	AJ312214	CCDS758.1	1p22-p21	2008-07-18			ENSG00000099260	ENSG00000099260			15846	protein-coding gene	gene with protein product		610182		C1orf11		11478809	Standard	NM_017734		Approved	FLJ20271, PALML	uc001dsg.3	Q9NP74	OTTHUMG00000010764	ENST00000263174.4:c.1036A>T	1.37:g.100154852A>T	ENSP00000263174:p.Arg346Trp					PALMD_ENST00000605497.1_Missense_Mutation_p.R346W	p.R346W	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)	7	1411	+		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)	346					Q9H7E6|Q9NPM5|Q9NPM6|Q9NPS0	Missense_Mutation	SNP	ENST00000263174.4	37	c.1036A>T	CCDS758.1	.	.	.	.	.	.	.	.	.	.	A	11.94	1.788892	0.31685	.	.	ENSG00000099260	ENST00000263174	T	0.18960	2.18	5.71	5.71	0.89125	.	0.565657	0.19174	N	0.120878	T	0.13628	0.0330	L	0.29908	0.895	0.37249	D	0.906461	P;D	0.55800	0.953;0.973	B;P	0.49528	0.41;0.614	T	0.02581	-1.1138	10	0.87932	D	0	-5.3574	11.9125	0.52747	0.8547:0.1453:0.0:0.0	.	346;266	Q9NP74;Q9NP74-2	PALMD_HUMAN;.	W	346	ENSP00000263174:R346W	ENSP00000263174:R346W	R	+	1	2	PALMD	99927440	0.960000	0.32886	0.895000	0.35142	0.026000	0.11368	2.679000	0.46909	2.168000	0.68352	0.460000	0.39030	AGG		0.488	PALMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029672.1	NM_017734		15	27	0	0	0	0.000422831	0	15	27				
SYNPO2	171024	broad.mit.edu	37	4	119978626	119978626	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr4:119978626A>G	ENST00000307142.4	+	5	3519	c.3323A>G	c.(3322-3324)tAc>tGc	p.Y1108C	SYNPO2_ENST00000448416.2_Missense_Mutation_p.T110A	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	0						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCTTGGGTATACCAGCCTACT	0.448																																						ENST00000307142.4																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(3322-3324)tAc>tGc		synaptopodin 2							90.0	89.0	90.0					4																	119978626		2203	4300	6503	SO:0001583	missense	171024					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119978626A>G	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000307142.4:c.3323A>G	4.37:g.119978626A>G	ENSP00000306015:p.Tyr1108Cys					SYNPO2_ENST00000448416.2_Missense_Mutation_p.T110A	p.Y1108C	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN			5	3519	+			765					B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000307142.4	37	c.3323A>G	CCDS34054.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	18.74|18.74|18.74	3.688038|3.688038|3.688038	0.68271|0.68271|0.68271	.|.|.	.|.|.	ENSG00000172403|ENSG00000172403|ENSG00000172403	ENST00000504178|ENST00000448416|ENST00000307142	.|T|T	.|0.63580|0.07908	.|-0.05|3.15	5.7|5.7|5.7	-2.08|-2.08|-2.08	0.07254|0.07254|0.07254	.|.|.	.|.|0.384743	.|.|0.19214	.|.|N	.|.|0.119857	T|T|T	0.04318|0.04318|0.04318	0.0119|0.0119|0.0119	L|L|L	0.27053|0.27053|0.27053	0.805|0.805|0.805	0.09310|0.09310|0.09310	N|N|N	1|1|1	.|B|B;B	.|0.02656|0.06786	.|0.0|0.001;0.001	.|B|B;B	.|0.01281|0.06405	.|0.0|0.001;0.002	T|T|T	0.39292|0.39292|0.39292	-0.9621|-0.9621|-0.9621	5|8|9	.|.|.	.|.|.	.|.|.	0.0673|0.0673|0.0673	4.8691|4.8691|4.8691	0.13624|0.13624|0.13624	0.2674:0.0:0.2605:0.4722|0.2674:0.0:0.2605:0.4722|0.2674:0.0:0.2605:0.4722	.|.|.	.|110|1108;1108	.|B4E258|B9EG60;Q9UMS6-2	.|.|.;.	M|A|C	1001|110|1108	.|ENSP00000412623:T110A|ENSP00000306015:Y1108C	.|.|.	I|T|Y	+|+|+	3|1|2	3|0|0	SYNPO2|SYNPO2|SYNPO2	120198074|120198074|120198074	0.000000|0.000000|0.000000	0.05858|0.05858|0.05858	0.010000|0.010000|0.010000	0.14722|0.14722|0.14722	0.708000|0.708000|0.708000	0.40852|0.40852|0.40852	-0.622000|-0.622000|-0.622000	0.05553|0.05553|0.05553	-0.643000|-0.643000|-0.643000	0.05473|0.05473|0.05473	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	ATA|ACC|TAC		0.448	SYNPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364018.1			22	56	0	0	0	0.000295444	0	22	56				
ITGA2	3673	broad.mit.edu	37	5	52362978	52362978	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr5:52362978A>C	ENST00000296585.5	+	16	2117	c.1974A>C	c.(1972-1974)gaA>gaC	p.E658D		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	658					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TAGCTATAGAAGCTTCATTCA	0.353																																						ENST00000296585.5																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(1972-1974)gaA>gaC		integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)							99.0	94.0	96.0					5																	52362978		2202	4300	6502	SO:0001583	missense	3673				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	g.chr5:52362978A>C		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.1974A>C	5.37:g.52362978A>C	ENSP00000296585:p.Glu658Asp						p.E658D	NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN			16	2117	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	658					Q14595	Missense_Mutation	SNP	ENST00000296585.5	37	c.1974A>C	CCDS3957.1	.	.	.	.	.	.	.	.	.	.	A	6.820	0.520400	0.13005	.	.	ENSG00000164171	ENST00000296585	T	0.55930	0.49	4.79	0.999	0.19862	Integrin alpha-2 (1);	0.552726	0.17924	N	0.157394	T	0.24509	0.0594	N	0.08118	0	0.20196	N	0.999927	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.002	T	0.09840	-1.0656	10	0.37606	T	0.19	.	1.2703	0.02019	0.2987:0.2196:0.084:0.3977	.	658;658	E7ESP4;P17301	.;ITA2_HUMAN	D	658	ENSP00000296585:E658D	ENSP00000296585:E658D	E	+	3	2	ITGA2	52398735	0.038000	0.19896	0.923000	0.36655	0.997000	0.91878	-0.049000	0.11924	0.003000	0.14656	0.533000	0.62120	GAA		0.353	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		3	38	0	0	0	6.4e-05	0	3	38				
PRPF3	9129	broad.mit.edu	37	1	150297416	150297416	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr1:150297416A>G	ENST00000324862.6	+	2	181	c.16A>G	c.(16-18)Agg>Ggg	p.R6G	PRPF3_ENST00000543398.1_5'UTR|PRPF3_ENST00000414970.2_Missense_Mutation_p.R6G	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	6	PWI. {ECO:0000255|PROSITE- ProRule:PRU00627}.				mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		ACTGTCAAAGAGGGAGCTGGA	0.423																																					Ovarian(168;1070 2670 5178 20729)	ENST00000324862.6																			0				breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(16-18)Agg>Ggg		pre-mRNA processing factor 3							111.0	116.0	114.0					1																	150297416		2203	4300	6503	SO:0001583	missense	9129				nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding	g.chr1:150297416A>G	AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360			17348	protein-coding gene	gene with protein product		607301	"""retinitis pigmentosa 18 (autosomal dominant)"", ""PRP3 pre-mRNA processing factor 3 homolog (yeast)"", ""PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"""	RP18			Standard	NM_004698		Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.16A>G	1.37:g.150297416A>G	ENSP00000315379:p.Arg6Gly					PRPF3_ENST00000543398.1_5'UTR|PRPF3_ENST00000414970.2_Missense_Mutation_p.R6G	p.R6G	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)	2	181	+	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		6			PWI.		B4DSY9|O43446|Q5VT54	Missense_Mutation	SNP	ENST00000324862.6	37	c.16A>G	CCDS951.1	.	.	.	.	.	.	.	.	.	.	A	17.97	3.518287	0.64634	.	.	ENSG00000117360	ENST00000324862;ENST00000414970	T;T	0.41400	1.0;1.0	5.29	2.84	0.33178	Splicing factor PWI (3);	0.000000	0.85682	D	0.000000	T	0.45074	0.1324	M	0.64997	1.995	0.80722	D	1	P;D;D	0.69078	0.9;0.997;0.991	B;P;P	0.60789	0.227;0.879;0.831	T	0.50725	-0.8794	10	0.87932	D	0	-14.6106	12.918	0.58216	0.6004:0.3996:0.0:0.0	.	6;6;6	E7EVD1;B2R791;O43395	.;.;PRPF3_HUMAN	G	6	ENSP00000315379:R6G;ENSP00000387844:R6G	ENSP00000315379:R6G	R	+	1	2	PRPF3	148564040	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.307000	0.33516	0.354000	0.24105	0.533000	0.62120	AGG		0.423	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035836.1	NM_004698		7	128	0	0	0	0.000157383	0	7	128				
GABRB1	2560	broad.mit.edu	37	4	47427856	47427856	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr4:47427856C>T	ENST00000295454.3	+	9	1538	c.1246C>T	c.(1246-1248)Cgc>Tgc	p.R416C	GABRB1_ENST00000538619.1_Missense_Mutation_p.R346C	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	416					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GGCCTACGGGCGCGCCCTGGA	0.642																																						ENST00000295454.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1246-1248)Cgc>Tgc		gamma-aminobutyric acid (GABA) A receptor, beta 1	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						40.0	46.0	44.0					4																	47427856		2203	4299	6502	SO:0001583	missense	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47427856C>T		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.1246C>T	4.37:g.47427856C>T	ENSP00000295454:p.Arg416Cys					GABRB1_ENST00000538619.1_Missense_Mutation_p.R346C	p.R416C	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN			9	1538	+			416					B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	c.1246C>T	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.593133	0.28357	.	.	ENSG00000163288	ENST00000295454;ENST00000538619	D;D	0.85861	-2.04;-2.04	5.38	5.38	0.77491	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.222175	0.37715	N	0.001962	D	0.90212	0.6940	M	0.81802	2.56	0.58432	D	0.999999	D;D	0.71674	0.998;0.996	P;P	0.57776	0.827;0.567	D	0.90597	0.4541	10	0.62326	D	0.03	-8.6877	11.9948	0.53196	0.287:0.713:0.0:0.0	.	346;416	F5GXV5;P18505	.;GBRB1_HUMAN	C	416;346	ENSP00000295454:R416C;ENSP00000440330:R346C	ENSP00000295454:R416C	R	+	1	0	GABRB1	47122613	0.999000	0.42202	0.993000	0.49108	0.039000	0.13416	2.371000	0.44248	2.803000	0.96430	0.650000	0.86243	CGC		0.642	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			6	51	0	0	0	3.59834e-05	0	6	51				
TG	7038	broad.mit.edu	37	8	133935616	133935616	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr8:133935616T>A	ENST00000220616.4	+	22	4602	c.4562T>A	c.(4561-4563)cTg>cAg	p.L1521Q	TG_ENST00000542445.1_5'UTR|TG_ENST00000377869.1_Intron	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1521	Thyroglobulin type-1 11. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GAAGCAGGCCTGCAATGTGAC	0.577																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(4561-4563)cTg>cAg		thyroglobulin							92.0	84.0	87.0					8																	133935616		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133935616T>A	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4562T>A	8.37:g.133935616T>A	ENSP00000220616:p.Leu1521Gln					TG_ENST00000542445.1_5'UTR|TG_ENST00000377869.1_Intron	p.L1521Q	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	22	4602	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1521			Thyroglobulin type-1 11.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.4562T>A	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	T	17.23	3.336202	0.60963	.	.	ENSG00000042832	ENST00000543313;ENST00000220616	D	0.97553	-4.43	4.84	4.84	0.62591	Thyroglobulin type-1 (4);	0.000000	0.43919	D	0.000510	D	0.97914	0.9314	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.98397	1.0566	10	0.87932	D	0	.	10.797	0.46466	0.0:0.0:0.0:1.0	.	1521	P01266	THYG_HUMAN	Q	327;1521	ENSP00000220616:L1521Q	ENSP00000220616:L1521Q	L	+	2	0	TG	134004798	1.000000	0.71417	1.000000	0.80357	0.699000	0.40488	4.502000	0.60400	1.822000	0.53115	0.454000	0.30748	CTG		0.577	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		7	94	0	0	0	0.000157383	0	7	94				
ESPL1	9700	broad.mit.edu	37	12	53666575	53666575	+	Silent	SNP	T	T	G			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr12:53666575T>G	ENST00000257934.4	+	6	1531	c.1440T>G	c.(1438-1440)tcT>tcG	p.S480S	ESPL1_ENST00000552462.1_Silent_p.S480S	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	480					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GTGCCATCTCTGAGCCGCTCT	0.522																																					Colon(53;1069 1201 2587 5382)	ENST00000257934.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						c.(1438-1440)tcT>tcG		extra spindle pole bodies homolog 1 (S. cerevisiae)							168.0	160.0	163.0					12																	53666575		2203	4300	6503	SO:0001819	synonymous_variant	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53666575T>G	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.1440T>G	12.37:g.53666575T>G						ESPL1_ENST00000552462.1_Silent_p.S480S	p.S480S	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN			6	1531	+			480						Silent	SNP	ENST00000257934.4	37	c.1440T>G	CCDS8852.1																																																																																				0.522	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		22	223	0	0	0	0.000295444	0	22	223				
DNAJC13	23317	broad.mit.edu	37	3	132165395	132165395	+	Splice_Site	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr3:132165395G>T	ENST00000260818.6	+	3	392		c.e3+1		DNAJC13_ENST00000486798.1_Splice_Site	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13						osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						AACAAATCAGGTAATCCTGTT	0.368																																						ENST00000260818.6																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						c.e3+1		DnaJ (Hsp40) homolog, subfamily C, member 13							73.0	72.0	72.0					3																	132165395		2202	4296	6498	SO:0001630	splice_region_variant	23317						heat shock protein binding	g.chr3:132165395G>T	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.144+1G>T	3.37:g.132165395G>T						DNAJC13_ENST00000486798.1_Splice_Site		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN			3	392	+								Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Splice_Site	SNP	ENST00000260818.6	37		CCDS33857.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617414	0.87359	.	.	ENSG00000138246	ENST00000260818	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1961	0.93690	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAJC13	133648085	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.869000	0.99810	2.543000	0.85770	0.467000	0.42956	.		0.368	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268	Intron	17	28	1	0	4.96729e-08	0.000132079	6.6192e-07	17	28				
SLIT2	9353	broad.mit.edu	37	4	20255579	20255579	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr4:20255579C>A	ENST00000504154.1	+	1	393	c.141C>A	c.(139-141)cgC>cgA	p.R47R	SLIT2_ENST00000273739.5_Silent_p.R47R|SLIT2_ENST00000503823.1_Silent_p.R47R|SLIT2_ENST00000503837.1_Silent_p.R47R	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	47	LRRNT.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGGCGCTGCGCAGCGTGCCCA	0.667																																						ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(139-141)cgC>cgA		slit homolog 2 (Drosophila)							96.0	81.0	86.0					4																	20255579		2203	4300	6503	SO:0001819	synonymous_variant	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20255579C>A	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.141C>A	4.37:g.20255579C>A						SLIT2_ENST00000273739.5_Silent_p.R47R|SLIT2_ENST00000503823.1_Silent_p.R47R|SLIT2_ENST00000503837.1_Silent_p.R47R	p.R47R	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			1	393	+			47			LRRNT.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	ENST00000504154.1	37	c.141C>A	CCDS3426.1																																																																																				0.667	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			8	129	1	0	1.06961e-07	0.000157383	1.39293e-06	8	129				
GRIK5	2901	broad.mit.edu	37	19	42566936	42566936	+	Missense_Mutation	SNP	C	C	T	rs145589136		TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr19:42566936C>T	ENST00000262895.3	-	3	315	c.316G>A	c.(316-318)Gtg>Atg	p.V106M	GRIK5_ENST00000593562.1_Missense_Mutation_p.V106M|GRIK5_ENST00000301218.4_Missense_Mutation_p.V106M	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	106					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				ATATGGCTCACGGTGGAGGCA	0.632																																						ENST00000262895.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35						c.(316-318)Gtg>Atg		glutamate receptor, ionotropic, kainate 5	L-Glutamic Acid(DB00142)	C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	90.0	81.0	84.0		316	5.7	1.0	19	dbSNP_134	84	1,8599	1.2+/-3.3	0,1,4299	no	missense	GRIK5	NM_002088.3	21	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	106/981	42566936	2,13004	2203	4300	6503	SO:0001583	missense	2901					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr19:42566936C>T		CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.316G>A	19.37:g.42566936C>T	ENSP00000262895:p.Val106Met					GRIK5_ENST00000301218.4_Missense_Mutation_p.V106M|GRIK5_ENST00000593562.1_Missense_Mutation_p.V106M	p.V106M	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN			3	315	-		Prostate(69;0.059)	106					Q8WWG8	Missense_Mutation	SNP	ENST00000262895.3	37	c.316G>A	CCDS12595.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.608539	0.87258	2.27E-4	1.16E-4	ENSG00000105737	ENST00000262895;ENST00000301218	D;D	0.86030	-2.06;-2.06	5.71	5.71	0.89125	Extracellular ligand-binding receptor (1);	0.311274	0.29638	N	0.011581	D	0.90003	0.6879	L	0.48642	1.525	0.48040	D	0.99957	D	0.71674	0.998	D	0.67900	0.954	D	0.90503	0.4475	10	0.87932	D	0	.	18.6332	0.91368	0.0:1.0:0.0:0.0	.	106	Q16478	GRIK5_HUMAN	M	106	ENSP00000262895:V106M;ENSP00000301218:V106M	ENSP00000262895:V106M	V	-	1	0	GRIK5	47258776	0.910000	0.30920	0.965000	0.40720	0.992000	0.81027	1.314000	0.33597	2.713000	0.92767	0.643000	0.83706	GTG		0.632	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1			28	53	0	0	0	0.000184323	0	28	53				
NOD2	64127	broad.mit.edu	37	16	50745558	50745558	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr16:50745558A>G	ENST00000300589.2	+	4	1841	c.1736A>G	c.(1735-1737)gAc>gGc	p.D579G	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	579	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|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)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				AGCCCTGATGACATTTCTCTT	0.607																																						ENST00000300589.2																			0				cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52						c.(1735-1737)gAc>gGc		nucleotide-binding oligomerization domain containing 2							51.0	37.0	42.0					16																	50745558		2198	4300	6498	SO:0001583	missense	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|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	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50745558A>G	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.1736A>G	16.37:g.50745558A>G	ENSP00000300589:p.Asp579Gly						p.D579G	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN			4	1841	+		all_cancers(37;0.0156)	579			NACHT.		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	c.1736A>G	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	A	16.54	3.151963	0.57151	.	.	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.71222	-0.55	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000005	D	0.82462	0.5042	M	0.79805	2.47	0.58432	D	0.999999	P;D;P	0.67145	0.871;0.996;0.871	B;D;B	0.63283	0.354;0.913;0.354	D	0.85090	0.0951	10	0.72032	D	0.01	.	12.9381	0.58327	1.0:0.0:0.0:0.0	.	363;552;579	D6CHF9;Q9HC29-2;Q9HC29	.;.;NOD2_HUMAN	G	552;579	ENSP00000300589:D579G	ENSP00000300589:D579G	D	+	2	0	NOD2	49303059	1.000000	0.71417	0.313000	0.25210	0.391000	0.30476	5.501000	0.66950	1.946000	0.56461	0.459000	0.35465	GAC		0.607	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		6	35	0	0	0	3.59834e-05	0	6	35				
LRP1	4035	broad.mit.edu	37	12	57574174	57574174	+	Silent	SNP	C	C	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr12:57574174C>T	ENST00000243077.3	+	32	5764	c.5298C>T	c.(5296-5298)atC>atT	p.I1766I		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1766					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACCATACCATCAACCGCTGCA	0.617																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(5296-5298)atC>atT		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						127.0	138.0	134.0					12																	57574174		2203	4300	6503	SO:0001819	synonymous_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57574174C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.5298C>T	12.37:g.57574174C>T							p.I1766I	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	32	5764	+			1766					Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.5298C>T	CCDS8932.1																																																																																				0.617	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		25	224	0	0	0	0.00106085	0	25	224				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		4	44	0	0	0	0.000602214	0	4	44				
ERICH3	127254	broad.mit.edu	37	1	75038906	75038906	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr1:75038906C>A	ENST00000326665.5	-	14	2706	c.2488G>T	c.(2488-2490)Gag>Tag	p.E830*	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		830	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GGAGGGATCTCCCTTTTTTCT	0.572																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(2488-2490)Gag>Tag		chromosome 1 open reading frame 173							91.0	86.0	88.0					1																	75038906		2203	4300	6503	SO:0001587	stop_gained	127254							g.chr1:75038906C>A																												ENST00000326665.5:c.2488G>T	1.37:g.75038906C>A	ENSP00000322609:p.Glu830*					C1orf173_ENST00000433746.2_5'UTR	p.E830*	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			14	2706	-			830			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Nonsense_Mutation	SNP	ENST00000326665.5	37	c.2488G>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	39	7.369580	0.98241	.	.	ENSG00000178965	ENST00000326665	.	.	.	5.34	2.35	0.29111	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-1.8504	8.699	0.34314	0.0:0.731:0.1235:0.1455	.	.	.	.	X	830	.	ENSP00000322609:E830X	E	-	1	0	C1orf173	74811494	0.005000	0.15991	0.000000	0.03702	0.001000	0.01503	0.937000	0.28951	0.612000	0.30071	0.561000	0.74099	GAG		0.572	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			13	130	1	0	5.50884e-06	0.00010058	6.86209e-05	13	130				
SEMA6D	80031	broad.mit.edu	37	15	48054506	48054506	+	Silent	SNP	A	A	G			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr15:48054506A>G	ENST00000316364.5	+	8	1087	c.648A>G	c.(646-648)aaA>aaG	p.K216K	SEMA6D_ENST00000536845.2_Silent_p.K216K|SEMA6D_ENST00000558014.1_Silent_p.K216K|SEMA6D_ENST00000389425.3_Silent_p.K216K|SEMA6D_ENST00000537942.1_Silent_p.K216K|SEMA6D_ENST00000389432.2_Silent_p.K216K|SEMA6D_ENST00000558816.1_Silent_p.K216K|SEMA6D_ENST00000389433.2_Silent_p.K216K|SEMA6D_ENST00000355997.3_Silent_p.K216K|SEMA6D_ENST00000354744.4_Silent_p.K216K|SEMA6D_ENST00000358066.4_Silent_p.K216K|SEMA6D_ENST00000389428.3_Silent_p.K216K	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	216	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		ATGATTCCAAATGGATAAAAG	0.507																																						ENST00000316364.5																			0				biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77						c.(646-648)aaA>aaG		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D							109.0	97.0	101.0					15																	48054506		2198	4297	6495	SO:0001819	synonymous_variant	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48054506A>G	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.648A>G	15.37:g.48054506A>G						SEMA6D_ENST00000558014.1_Silent_p.K216K|SEMA6D_ENST00000558816.1_Silent_p.K216K|SEMA6D_ENST00000389425.3_Silent_p.K216K|SEMA6D_ENST00000354744.4_Silent_p.K216K|SEMA6D_ENST00000355997.3_Silent_p.K216K|SEMA6D_ENST00000358066.4_Silent_p.K216K|SEMA6D_ENST00000389433.2_Silent_p.K216K|SEMA6D_ENST00000389428.3_Silent_p.K216K|SEMA6D_ENST00000537942.1_Silent_p.K216K|SEMA6D_ENST00000389432.2_Silent_p.K216K|SEMA6D_ENST00000536845.2_Silent_p.K216K	p.K216K	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	8	1087	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	216			Sema.		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Silent	SNP	ENST00000316364.5	37	c.648A>G	CCDS32225.1																																																																																				0.507	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		3	79	0	0	0	6.4e-05	0	3	79				
DLEC1	9940	broad.mit.edu	37	3	38129853	38129853	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr3:38129853G>A	ENST00000308059.6	+	10	1660	c.1639G>A	c.(1639-1641)Gcc>Acc	p.A547T	DLEC1_ENST00000346219.3_Missense_Mutation_p.A547T|DLEC1_ENST00000452631.2_Missense_Mutation_p.A547T					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GTTTGAGCTGGCCCCGGGACA	0.458																																						ENST00000308059.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(1639-1641)Gcc>Acc		deleted in lung and esophageal cancer 1							142.0	141.0	141.0					3																	38129853		1958	4135	6093	SO:0001583	missense	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38129853G>A	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.1639G>A	3.37:g.38129853G>A	ENSP00000308597:p.Ala547Thr					DLEC1_ENST00000452631.2_Missense_Mutation_p.A547T|DLEC1_ENST00000346219.3_Missense_Mutation_p.A547T	p.A547T			Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	10	1660	+			547						Missense_Mutation	SNP	ENST00000308059.6	37	c.1639G>A	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	G	11.16	1.555465	0.27739	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.05258	3.48;3.47;3.7	4.84	3.88	0.44766	.	0.672334	0.15620	N	0.252955	T	0.08088	0.0202	M	0.64997	1.995	0.24475	N	0.994377	P;P;P	0.43094	0.799;0.692;0.799	B;B;B	0.42522	0.23;0.39;0.23	T	0.15925	-1.0420	10	0.16420	T	0.52	-19.1126	6.9558	0.24570	0.1003:0.0:0.722:0.1777	.	547;547;547	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	T	547	ENSP00000308597:A547T;ENSP00000315914:A547T;ENSP00000410427:A547T	ENSP00000308597:A547T	A	+	1	0	DLEC1	38104857	0.845000	0.29573	1.000000	0.80357	0.652000	0.38707	1.185000	0.32065	2.498000	0.84270	0.591000	0.81541	GCC		0.458	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		5	138	0	0	0	8.12818e-05	0	5	138				
ARHGEF1	9138	broad.mit.edu	37	19	42410938	42410938	+	Nonstop_Mutation	SNP	A	A	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr19:42410938A>T	ENST00000354532.3	+	28	2887	c.2739A>T	c.(2737-2739)tgA>tgT	p.*913C	ARHGEF1_ENST00000599846.1_Nonstop_Mutation_p.*969C|CTD-2575K13.6_ENST00000597630.1_RNA|ARHGEF1_ENST00000337665.4_Nonstop_Mutation_p.*928C|ARHGEF1_ENST00000347545.4_Nonstop_Mutation_p.*880C|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.R841W	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	0					cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GCTGCACTTGAGGTTCCCGCC	0.657																																						ENST00000599846.1																			0				breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(2905-2907)tgA>tgT		Rho guanine nucleotide exchange factor (GEF) 1							29.0	27.0	28.0					19																	42410938		2203	4300	6503	SO:0001578	stop_lost	0				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr19:42410938A>T	U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.2739A>T	19.37:g.42410938A>T	ENSP00000346532:p.*913Cysext*19					ARHGEF1_ENST00000347545.4_Nonstop_Mutation_p.*880C|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.R841W|ARHGEF1_ENST00000354532.3_Nonstop_Mutation_p.*913C|ARHGEF1_ENST00000337665.4_Nonstop_Mutation_p.*928C	p.*969C			Q92888	ARHG1_HUMAN		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)	29	3032	+		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)	0					O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Nonstop_Mutation	SNP	ENST00000354532.3	37	c.2907A>T	CCDS12591.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.579|9.579	1.123113|1.123113	0.20959|0.20959	.|.	.|.	ENSG00000076928|ENSG00000076928	ENST00000378152|ENST00000354532;ENST00000347545;ENST00000337665	T|.	0.69685|.	-0.42|.	4.09|4.09	4.09|4.09	0.47781|0.47781	.|.	0.885835|.	0.09328|.	N|.	0.817303|.	T|.	0.37679|.	0.1012|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	P|.	0.45474|.	0.859|.	P|.	0.46885|.	0.53|.	T|.	0.20538|.	-1.0272|.	9|.	0.72032|.	D|.	0.01|.	-1.9559|-1.9559	9.7848|9.7848	0.40670|0.40670	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	841|.	Q6NX52|.	.|.	W|C	841|913;880;928	ENSP00000367394:R841W|.	ENSP00000367394:R841W|.	R|X	+|+	1|3	2|0	ARHGEF1|ARHGEF1	47102778|47102778	1.000000|1.000000	0.71417|0.71417	0.956000|0.956000	0.39512|0.39512	0.417000|0.417000	0.31264|0.31264	2.019000|2.019000	0.41001|0.41001	1.624000|1.624000	0.50355|0.50355	0.397000|0.397000	0.26171|0.26171	AGG|TGA		0.657	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	NM_199002		9	21	0	0	0	0.000978159	0	9	21				
SIRPA	140885	broad.mit.edu	37	20	1902248	1902248	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr20:1902248T>G	ENST00000358771.4	+	3	796	c.644T>G	c.(643-645)gTg>gGg	p.V215G	SIRPA_ENST00000356025.3_Missense_Mutation_p.V215G|SIRPA_ENST00000400068.3_Missense_Mutation_p.V215G	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	215	Ig-like C1-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		ACAGCCAAGGTGGTGCTGACC	0.572																																					GBM(155;1668 1920 5945 42733 48121)	ENST00000358771.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.(643-645)gTg>gGg		signal-regulatory protein alpha							105.0	92.0	96.0					20																	1902248		2203	4300	6503	SO:0001583	missense	140885				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	g.chr20:1902248T>G	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	9662	protein-coding gene	gene with protein product		602461	"""protein tyrosine phosphatase, non-receptor type substrate 1"""	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.644T>G	20.37:g.1902248T>G	ENSP00000351621:p.Val215Gly					SIRPA_ENST00000400068.3_Missense_Mutation_p.V215G|SIRPA_ENST00000356025.3_Missense_Mutation_p.V215G	p.V215G	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN		Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)	3	796	+			215			Ig-like C1-type 1.		A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	c.644T>G	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	T	13.62	2.291044	0.40494	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.03772	3.81;3.81;3.81	4.86	4.86	0.63082	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.118971	0.37437	N	0.002087	T	0.26159	0.0638	M	0.90977	3.165	0.48395	D	0.999643	D;P;D	0.71674	0.988;0.913;0.998	D;D;D	0.85130	0.995;0.935;0.997	T	0.04165	-1.0972	10	0.87932	D	0	.	11.0842	0.48078	0.0:0.0:0.0:1.0	.	195;215;215	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	G	215	ENSP00000382941:V215G;ENSP00000348307:V215G;ENSP00000351621:V215G	ENSP00000348307:V215G	V	+	2	0	SIRPA	1850248	0.994000	0.37717	0.265000	0.24526	0.129000	0.20672	2.575000	0.46025	2.195000	0.70347	0.529000	0.55759	GTG		0.572	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		7	103	0	0	0	0.000157383	0	7	103				
PHF10	55274	broad.mit.edu	37	6	170114863	170114863	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr6:170114863G>C	ENST00000339209.4	-	7	892	c.769C>G	c.(769-771)Ctc>Gtc	p.L257V	PHF10_ENST00000464779.1_5'Flank|PHF10_ENST00000366780.4_Missense_Mutation_p.L255V	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	257	SAY.				nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	npBAF complex (GO:0071564)	zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		CCGGGGATGAGAGCCACTGGG	0.418																																						ENST00000339209.4																			0				endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14						c.(769-771)Ctc>Gtc		PHD finger protein 10							177.0	173.0	174.0					6																	170114863		2203	4300	6503	SO:0001583	missense	55274				nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding	g.chr6:170114863G>C	AF338735	CCDS5308.2, CCDS5309.2	6q27	2014-05-13			ENSG00000130024	ENSG00000130024		"""Zinc fingers, PHD-type"""	18250	protein-coding gene	gene with protein product		613069				11827455	Standard	NM_018288		Approved	FLJ10975, XAP135, BAF45a	uc011egy.2	Q8WUB8	OTTHUMG00000016058	ENST00000339209.4:c.769C>G	6.37:g.170114863G>C	ENSP00000341805:p.Leu257Val					PHF10_ENST00000366780.4_Missense_Mutation_p.L255V	p.L257V	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)	7	892	-		Breast(66;5.08e-05)|Ovarian(120;0.208)	257			SAY.		Q2YDA3|Q53HG8|Q9BXD2|Q9NV26	Missense_Mutation	SNP	ENST00000339209.4	37	c.769C>G	CCDS5308.2	.	.	.	.	.	.	.	.	.	.	G	16.45	3.127358	0.56721	.	.	ENSG00000130024	ENST00000366780;ENST00000339209	D;D	0.91295	-2.82;-2.78	5.62	5.62	0.85841	.	0.116963	0.56097	D	0.000021	D	0.87010	0.6071	L	0.43757	1.38	0.80722	D	1	P;P;P	0.50369	0.778;0.577;0.934	B;B;P	0.45099	0.262;0.281;0.469	D	0.87766	0.2602	10	0.52906	T	0.07	-16.1579	18.9992	0.92826	0.0:0.0:1.0:0.0	.	169;255;257	Q5T069;Q8WUB8-2;Q8WUB8	.;.;PHF10_HUMAN	V	255;257	ENSP00000355743:L255V;ENSP00000341805:L257V	ENSP00000341805:L257V	L	-	1	0	PHF10	169856788	1.000000	0.71417	0.992000	0.48379	0.999000	0.98932	5.999000	0.70665	2.795000	0.96236	0.655000	0.94253	CTC		0.418	PHF10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346732.1	NM_018288		14	169	0	0	0	0.000308642	0	14	169				
CCR9	10803	broad.mit.edu	37	3	45942472	45942472	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr3:45942472G>T	ENST00000357632.2	+	3	372	c.192G>T	c.(190-192)ttG>ttT	p.L64F	Y_RNA_ENST00000364765.1_RNA|CCR9_ENST00000395963.2_Missense_Mutation_p.L52F|LZTFL1_ENST00000536047.1_Intron|CCR9_ENST00000355983.2_Missense_Mutation_p.L52F|LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000422395.1_Missense_Mutation_p.W93L	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	64					cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		TGGGTGCCTTGGGCAACAGTC	0.473																																						ENST00000357632.2																			0				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20						c.(190-192)ttG>ttT		chemokine (C-C motif) receptor 9							228.0	189.0	202.0					3																	45942472		2203	4300	6503	SO:0001583	missense	10803				cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane		g.chr3:45942472G>T	AJ132337	CCDS2732.1, CCDS2733.1	3p21.31	2012-09-20			ENSG00000173585	ENSG00000173585		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1610	protein-coding gene	gene with protein product		604738		GPR28		10229797	Standard	NM_006641		Approved	GPR-9-6, CDw199	uc003coz.2	P51686	OTTHUMG00000133450	ENST00000357632.2:c.192G>T	3.37:g.45942472G>T	ENSP00000350256:p.Leu64Phe					LZTFL1_ENST00000536047.1_Intron|CCR9_ENST00000355983.2_Missense_Mutation_p.L52F|LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000422395.1_Missense_Mutation_p.W93L|CCR9_ENST00000395963.2_Missense_Mutation_p.L52F	p.L64F	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)	3	372	+			64					Q4VBM3|Q549E0|Q9UQQ6	Missense_Mutation	SNP	ENST00000357632.2	37	c.192G>T	CCDS2732.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.884|2.884	-0.231218|-0.231218	0.05983|0.05983	.|.	.|.	ENSG00000173585|ENSG00000173585	ENST00000357632;ENST00000395963;ENST00000355983|ENST00000422395	T;T;T|.	0.41400|.	1.0;1.0;1.0|.	5.14|5.14	4.14|4.14	0.48551|0.48551	.|.	0.729179|.	0.12855|.	N|.	0.433571|.	T|T	0.49115|0.49115	0.1538|0.1538	L|L	0.41492|0.41492	1.28|1.28	0.38349|0.38349	D|D	0.944281|0.944281	B|.	0.33135|.	0.399|.	B|.	0.40228|.	0.323|.	T|T	0.56619|0.56619	-0.7949|-0.7949	10|6	0.72032|0.87932	D|D	0.01|0	.|.	5.103|5.103	0.14770|0.14770	0.1654:0.0:0.6392:0.1954|0.1654:0.0:0.6392:0.1954	.|.	64|.	P51686|.	CCR9_HUMAN|.	F|L	64;52;52|93	ENSP00000350256:L64F;ENSP00000379292:L52F;ENSP00000348260:L52F|.	ENSP00000348260:L52F|ENSP00000393267:W93L	L|W	+|+	3|2	2|0	CCR9|CCR9	45917476|45917476	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.004000|0.004000	0.04260|0.04260	1.054000|1.054000	0.30455|0.30455	2.392000|2.392000	0.81423|0.81423	0.563000|0.563000	0.77884|0.77884	TTG|TGG		0.473	CCR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257323.2			9	175	1	0	0.000673444	0.000673444	0.00821029	9	175				
ZNF28	7576	broad.mit.edu	37	19	53304661	53304661	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr19:53304661G>A	ENST00000457749.2	-	4	556	c.437C>T	c.(436-438)tCg>tTg	p.S146L	ZNF28_ENST00000594602.1_3'UTR|ZNF28_ENST00000414252.2_Missense_Mutation_p.S93L|ZNF28_ENST00000360272.4_Missense_Mutation_p.S93L|ZNF28_ENST00000438150.2_Missense_Mutation_p.S93L	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	146					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		AGGCAGATGCGAATGAAAGCT	0.398																																						ENST00000438150.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(277-279)tCg>tTg		zinc finger protein 28							231.0	220.0	224.0					19																	53304661		2203	4300	6503	SO:0001583	missense	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53304661G>A	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.437C>T	19.37:g.53304661G>A	ENSP00000397693:p.Ser146Leu					ZNF28_ENST00000457749.2_Missense_Mutation_p.S146L|ZNF28_ENST00000414252.2_Missense_Mutation_p.S93L|ZNF28_ENST00000594602.1_3'UTR|ZNF28_ENST00000360272.4_Missense_Mutation_p.S93L	p.S93L			P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	2	1171	-			146					A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	c.278C>T	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	3.684	-0.064980	0.07273	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783	T;T;T;T;T	0.09817	2.94;3.14;2.94;2.94;2.97	0.762	-0.575	0.11734	.	.	.	.	.	T	0.11793	0.0287	M	0.73962	2.25	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.34477	-0.9827	9	0.62326	D	0.03	.	2.94	0.05826	0.0:0.3034:0.392:0.3046	.	146	P17035	ZNF28_HUMAN	L	93;146;93;93;93	ENSP00000412143:S93L;ENSP00000397693:S146L;ENSP00000353410:S93L;ENSP00000444965:S93L;ENSP00000375661:S93L	ENSP00000353410:S93L	S	-	2	0	ZNF28	57996473	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.956000	0.03865	-0.137000	0.11455	-0.873000	0.02984	TCG		0.398	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		17	319	0	0	0	0.00074312	0	17	319				
DST	667	broad.mit.edu	37	6	56468037	56468037	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr6:56468037G>A	ENST00000361203.3	-	38	10497	c.10490C>T	c.(10489-10491)aCg>aTg	p.T3497M	DST_ENST00000312431.6_Missense_Mutation_p.T3497M|DST_ENST00000370769.4_Missense_Mutation_p.T3497M|DST_ENST00000370754.5_Missense_Mutation_p.T3675M|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.T3171M|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron			Q03001	DYST_HUMAN	dystonin	3497					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GATCTGTTTCGTTCTTTCTGA	0.388																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(11023-11025)aCg>aTg		dystonin							23.0	22.0	22.0					6																	56468037		875	1991	2866	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56468037G>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.10490C>T	6.37:g.56468037G>A	ENSP00000354508:p.Thr3497Met					DST_ENST00000370769.4_Missense_Mutation_p.T3497M|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Missense_Mutation_p.T3497M|DST_ENST00000446842.2_Missense_Mutation_p.T3171M|DST_ENST00000312431.6_Missense_Mutation_p.T3497M	p.T3675M			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		41	11023	-	Lung NSC(77;0.103)		3497					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.11024C>T		.	.	.	.	.	.	.	.	.	.	G	5.562	0.288489	0.10513	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203	T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7	5.67	-5.96	0.02234	.	0.929381	0.08948	N	0.870498	T	0.08758	0.0217	.	.	.	0.23298	N	0.997954	.	.	.	.	.	.	T	0.24764	-1.0151	6	0.21540	T	0.41	.	2.4435	0.04500	0.2464:0.2421:0.3911:0.1204	.	.	.	.	M	3675;3497;3171;3497;3497	ENSP00000359790:T3675M;ENSP00000359805:T3497M;ENSP00000393645:T3171M;ENSP00000307959:T3497M;ENSP00000354508:T3497M	ENSP00000307959:T3497M	T	-	2	0	DST	56575996	0.645000	0.27286	0.067000	0.19924	0.297000	0.27493	-0.114000	0.10757	-0.463000	0.06973	-1.320000	0.01293	ACG		0.388	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		14	13	0	0	0	0.000219431	0	14	13				
OR5H14	403273	broad.mit.edu	37	3	97868263	97868263	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr3:97868263T>C	ENST00000437310.1	+	1	94	c.34T>C	c.(34-36)Ttt>Ctt	p.F12L	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	12						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GCTGACAGAGTTTGTTCTCAC	0.393																																						ENST00000437310.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(34-36)Ttt>Ctt		olfactory receptor, family 5, subfamily H, member 14							48.0	51.0	50.0					3																	97868263		2201	4275	6476	SO:0001583	missense	403273				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97868263T>C		CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"""GPCR / Class A : Olfactory receptors"""	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.34T>C	3.37:g.97868263T>C	ENSP00000401706:p.Phe12Leu						p.F12L	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN			1	94	+			12					B9EH15	Missense_Mutation	SNP	ENST00000437310.1	37	c.34T>C	CCDS33798.1	.	.	.	.	.	.	.	.	.	.	T	12.84	2.058176	0.36277	.	.	ENSG00000236032	ENST00000437310	T	0.04454	3.62	2.49	1.27	0.21489	.	0.000000	0.43416	D	0.000563	T	0.07863	0.0197	M	0.80422	2.495	0.09310	N	1	B	0.23735	0.09	B	0.27076	0.076	T	0.21042	-1.0257	10	0.72032	D	0.01	.	5.6353	0.17534	0.0:0.1524:0.0:0.8476	.	12	A6NHG9	O5H14_HUMAN	L	12	ENSP00000401706:F12L	ENSP00000401706:F12L	F	+	1	0	OR5H14	99350953	0.817000	0.29147	0.367000	0.25926	0.426000	0.31534	1.939000	0.40213	0.198000	0.20407	0.164000	0.16699	TTT		0.393	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			9	126	0	0	0	0.000442599	0	9	126				
CDH4	1002	broad.mit.edu	37	20	60448792	60448792	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr20:60448792G>A	ENST00000360469.5	+	7	974	c.886G>A	c.(886-888)Gtg>Atg	p.V296M	CDH4_ENST00000543233.1_Missense_Mutation_p.V222M	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	296	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			AGGCACCTACGTGATGACCGT	0.662																																						ENST00000360469.5																			0				NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(886-888)Gtg>Atg		cadherin 4, type 1, R-cadherin (retinal)							109.0	87.0	94.0					20																	60448792		2203	4300	6503	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60448792G>A	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.886G>A	20.37:g.60448792G>A	ENSP00000353656:p.Val296Met					CDH4_ENST00000543233.1_Missense_Mutation_p.V222M	p.V296M	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		7	974	+			296			Cadherin 2.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.886G>A	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.895727	0.91962	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.68765	-0.35;-0.35	5.01	5.01	0.66863	Cadherin (4);Cadherin-like (1);	0.062014	0.64402	D	0.000004	D	0.87297	0.6142	H	0.96269	3.795	0.80722	D	1	D	0.76494	0.999	D	0.65684	0.937	D	0.91740	0.5403	9	.	.	.	.	18.3781	0.90441	0.0:0.0:1.0:0.0	.	296	P55283	CADH4_HUMAN	M	296;204;222	ENSP00000353656:V296M;ENSP00000443301:V222M	.	V	+	1	0	CDH4	59882187	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.681000	0.84073	2.330000	0.79161	0.650000	0.86243	GTG		0.662	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		33	66	0	0	0	0.000692331	0	33	66				
EP400	57634	broad.mit.edu	37	12	132547138	132547138	+	Silent	SNP	A	A	G	rs111782215|rs561398509	byFrequency	TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr12:132547138A>G	ENST00000333577.4	+	48	8443	c.8334A>G	c.(8332-8334)caA>caG	p.Q2778Q	EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000332482.4_Silent_p.Q2705Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2778	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2741Q(3)|p.Q2742Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcaacagcagcagc	0.602													G|||	74	0.0147764	0.028	0.0086	5008	,	,		14914	0.0079		0.0119	False		,,,				2504	0.0112					ENST00000333577.4																			4	Substitution - coding silent(4)	p.Q2741Q(3)|p.Q2742Q(1)	prostate(2)|endometrium(1)|kidney(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8332-8334)caA>caG		E1A binding protein p400							48.0	40.0	43.0					12																	132547138		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547138A>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8334A>G	12.37:g.132547138A>G						EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389562.2_Silent_p.Q2741Q	p.Q2778Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8443	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2778			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8334A>G																																																																																					0.602	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		3	53	0	0	0	0.00024832	0	3	53				
TCERG1L	256536	broad.mit.edu	37	10	132915191	132915191	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr10:132915191T>A	ENST00000368642.4	-	9	1351	c.1266A>T	c.(1264-1266)gaA>gaT	p.E422D		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	422										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		TCCCGCAGCCTTCGGTCCTTC	0.567																																						ENST00000368642.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1264-1266)gaA>gaT		transcription elongation regulator 1-like							73.0	60.0	65.0					10																	132915191		2203	4299	6502	SO:0001583	missense	256536							g.chr10:132915191T>A	AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.1266A>T	10.37:g.132915191T>A	ENSP00000357631:p.Glu422Asp						p.E422D	NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)	9	1351	-		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)	422					Q5VWI2|Q86XM8	Missense_Mutation	SNP	ENST00000368642.4	37	c.1266A>T	CCDS7662.2	.	.	.	.	.	.	.	.	.	.	T	11.21	1.570713	0.28003	.	.	ENSG00000176769	ENST00000368642	T	0.24151	1.87	4.18	1.6	0.23607	.	0.076480	0.51477	D	0.000090	T	0.14570	0.0352	L	0.32530	0.975	0.37551	D	0.918709	P	0.43750	0.816	B	0.35813	0.211	T	0.12502	-1.0545	10	0.33141	T	0.24	.	7.8956	0.29704	0.0:0.0:0.42:0.58	.	422	Q5VWI1	TCRGL_HUMAN	D	422	ENSP00000357631:E422D	ENSP00000357631:E422D	E	-	3	2	TCERG1L	132805181	1.000000	0.71417	0.237000	0.24090	0.017000	0.09413	2.064000	0.41432	0.123000	0.18342	0.528000	0.53228	GAA		0.567	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091619.2	NM_174937		6	18	0	0	0	3.59834e-05	0	6	18				
MYOM1	8736	broad.mit.edu	37	18	3135567	3135567	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr18:3135567C>A	ENST00000356443.4	-	15	2520	c.2187G>T	c.(2185-2187)gtG>gtT	p.V729V	MYOM1_ENST00000400569.3_Silent_p.V729V|MYOM1_ENST00000261606.7_Silent_p.V729V	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	729	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CTACCACAGTCACCTCCGTTG	0.458																																						ENST00000356443.4																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(2185-2187)gtG>gtT		myomesin 1							42.0	44.0	43.0					18																	3135567		1917	4126	6043	SO:0001819	synonymous_variant	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3135567C>A	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.2187G>T	18.37:g.3135567C>A						MYOM1_ENST00000261606.7_Silent_p.V729V|MYOM1_ENST00000400569.3_Silent_p.V729V	p.V729V	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN			15	2520	-			729			Fibronectin type-III 2.		Q14BD6|Q6H969|Q6ZUU0	Silent	SNP	ENST00000356443.4	37	c.2187G>T	CCDS45824.1																																																																																				0.458	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		14	15	1	0	1.15088e-07	0.000422831	1.46545e-06	14	15				
AMBRA1	55626	broad.mit.edu	37	11	46569829	46569829	+	Missense_Mutation	SNP	T	T	A	rs17854361		TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr11:46569829T>A	ENST00000458649.2	-	2	520	c.102A>T	c.(100-102)gaA>gaT	p.E34D	AMBRA1_ENST00000533727.1_Missense_Mutation_p.E34D|AMBRA1_ENST00000314845.3_Missense_Mutation_p.E34D|AMBRA1_ENST00000528950.1_Missense_Mutation_p.E34D|AMBRA1_ENST00000298834.3_Missense_Mutation_p.E34D|AMBRA1_ENST00000534300.1_Missense_Mutation_p.E34D|AMBRA1_ENST00000426438.1_Missense_Mutation_p.E34D			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	34					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GGGTTTTATCTTCTACCAGCT	0.512																																						ENST00000458649.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39						c.(100-102)gaA>gaT		autophagy/beclin-1 regulator 1							194.0	204.0	201.0					11																	46569829		2201	4299	6500	SO:0001583	missense	55626				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		g.chr11:46569829T>A	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.102A>T	11.37:g.46569829T>A	ENSP00000415327:p.Glu34Asp					AMBRA1_ENST00000426438.1_Missense_Mutation_p.E34D|AMBRA1_ENST00000534300.1_Missense_Mutation_p.E34D|AMBRA1_ENST00000533727.1_Missense_Mutation_p.E34D|AMBRA1_ENST00000528950.1_Missense_Mutation_p.E34D|AMBRA1_ENST00000298834.3_Missense_Mutation_p.E34D|AMBRA1_ENST00000314845.3_Missense_Mutation_p.E34D	p.E34D			Q9C0C7	AMRA1_HUMAN		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	2	520	-			34					A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	ENST00000458649.2	37	c.102A>T		.	.	.	.	.	.	.	.	.	.	T	18.34	3.601818	0.66445	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000314823;ENST00000458649;ENST00000528950	T;T;T;T;T;T;T	0.71341	-0.4;-0.56;-0.29;-0.42;-0.29;-0.4;-0.42	6.08	3.4	0.38934	.	0.000000	0.85682	D	0.000000	T	0.70369	0.3216	N	0.25957	0.775	0.47862	D	0.99953	D;D;D;D;D;D	0.67145	0.994;0.996;0.996;0.996;0.996;0.996	D;D;D;D;D;D	0.76071	0.97;0.987;0.987;0.987;0.987;0.987	T	0.68473	-0.5399	10	0.46703	T	0.11	.	6.5834	0.22607	0.0:0.4362:0.0:0.5638	.	34;34;34;34;34;34	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	D	34	ENSP00000318313:E34D;ENSP00000433372:E34D;ENSP00000431926:E34D;ENSP00000410899:E34D;ENSP00000298834:E34D;ENSP00000415327:E34D;ENSP00000433945:E34D	ENSP00000298834:E34D	E	-	3	2	AMBRA1	46526405	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.775000	0.38584	0.917000	0.36895	0.482000	0.46254	GAA		0.512	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749		15	427	0	0	0	0.000308642	0	15	427				
TLL2	7093	broad.mit.edu	37	10	98138802	98138802	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr10:98138802C>T	ENST00000357947.3	-	17	2467	c.2242G>A	c.(2242-2244)Gtc>Atc	p.V748I		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	748	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		AAGGTGTTGACGCACTCATGC	0.552																																						ENST00000357947.3																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58						c.(2242-2244)Gtc>Atc		tolloid-like 2							194.0	155.0	168.0					10																	98138802		2203	4300	6503	SO:0001583	missense	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98138802C>T	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.2242G>A	10.37:g.98138802C>T	ENSP00000350630:p.Val748Ile						p.V748I	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	17	2467	-		Colorectal(252;0.0846)	748			EGF-like 2; calcium-binding (Potential).		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	ENST00000357947.3	37	c.2242G>A	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	C	7.503	0.653162	0.14580	.	.	ENSG00000095587	ENST00000357947	D	0.95656	-3.77	4.78	1.95	0.26073	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.782162	0.10700	N	0.644165	D	0.86920	0.6049	N	0.10618	0.005	0.27108	N	0.962445	B	0.06786	0.001	B	0.09377	0.004	T	0.76266	-0.3022	10	0.18276	T	0.48	.	7.5715	0.27911	0.0:0.6583:0.0:0.3417	.	748	Q9Y6L7	TLL2_HUMAN	I	748	ENSP00000350630:V748I	ENSP00000350630:V748I	V	-	1	0	TLL2	98128792	0.001000	0.12720	0.996000	0.52242	0.125000	0.20455	-0.181000	0.09740	0.741000	0.32674	0.561000	0.74099	GTC		0.552	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			15	134	0	0	0	0.000308642	0	15	134				
S100A10	6281	broad.mit.edu	37	1	151958729	151958729	+	Splice_Site	SNP	T	T	C			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr1:151958729T>C	ENST00000368811.3	-	2	639		c.e2-2		S100A10_ENST00000368809.1_Splice_Site|S100A10_ENST00000478574.1_Splice_Site	NM_002966.2	NP_002957.1	P60903	S10AA_HUMAN	S100 calcium binding protein A10						cellular response to acid chemical (GO:0071229)|establishment of protein localization to plasma membrane (GO:0090002)|membrane budding (GO:0006900)|membrane raft assembly (GO:0001765)|positive regulation of binding (GO:0051099)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein heterotetramerization (GO:0051290)	extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|protein homodimerization activity (GO:0042803)			breast(1)|kidney(1)|lung(2)|ovary(2)	6	Melanoma(130;0.0648)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CGTTGAAGCCTATTAAAGGAT	0.333																																						ENST00000368811.3																			0				breast(1)|kidney(1)|lung(2)|ovary(2)	6						c.e2-2		S100 calcium binding protein A10							142.0	135.0	137.0					1																	151958729		2203	4300	6503	SO:0001630	splice_region_variant	6281				signal transduction		calcium ion binding|receptor binding	g.chr1:151958729T>C	BC015973	CCDS1008.1	1q21	2012-04-04	2006-09-11		ENSG00000197747	ENSG00000197747		"""S100 calcium binding proteins"""	10487	protein-coding gene	gene with protein product	"""annexin II tetramer (AIIt) p11 subunit"""	114085	"""S100 calcium-binding protein A10 (annexin II ligand, calpactin I, light polypeptide (p11))"", ""S100 calcium binding protein A10 (annexin II ligand, calpactin I, light polypeptide (p11))"""	ANX2LG, CAL1L		8276421	Standard	NM_002966		Approved	P11, 42C, CLP11	uc001ezl.3	P60903	OTTHUMG00000013068	ENST00000368811.3:c.21-2A>G	1.37:g.151958729T>C						S100A10_ENST00000478574.1_Splice_Site|S100A10_ENST00000368809.1_Splice_Site		NM_002966.2	NP_002957.1	P60903	S10AA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		2	639	-	Melanoma(130;0.0648)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)							A8K4V8|P08206|Q5T1C5	Splice_Site	SNP	ENST00000368811.3	37		CCDS1008.1																																																																																				0.333	S100A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036673.1	NM_002966	Intron	3	148	0	0	0	0.000602214	0	3	148				
DGKB	1607	broad.mit.edu	37	7	14378185	14378185	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr7:14378185T>C	ENST00000403951.2	-	23	2499	c.2080A>G	c.(2080-2082)Agg>Ggg	p.R694G	DGKB_ENST00000258767.5_Missense_Mutation_p.R694G|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Missense_Mutation_p.R694G|DGKB_ENST00000407950.1_Missense_Mutation_p.R686G|DGKB_ENST00000444700.2_Missense_Mutation_p.R675G|DGKB_ENST00000406247.3_Missense_Mutation_p.R694G|DGKB_ENST00000402815.1_Missense_Mutation_p.R693G			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	694					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						ACGGTGGTCCTTTTGTCAGAC	0.393																																						ENST00000403951.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(2080-2082)Agg>Ggg		diacylglycerol kinase, beta 90kDa	Phosphatidylserine(DB00144)						191.0	176.0	180.0					7																	14378185		1849	4092	5941	SO:0001583	missense	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14378185T>C	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.2080A>G	7.37:g.14378185T>C	ENSP00000385780:p.Arg694Gly					DGKB_ENST00000258767.5_Missense_Mutation_p.R694G|DGKB_ENST00000444700.2_Missense_Mutation_p.R675G|DGKB_ENST00000402815.1_Missense_Mutation_p.R693G|DGKB_ENST00000407950.1_Missense_Mutation_p.R686G|DGKB_ENST00000399322.3_Missense_Mutation_p.R694G|DGKB_ENST00000406247.3_Missense_Mutation_p.R694G|DGKB_ENST00000403963.1_5'UTR	p.R694G			Q9Y6T7	DGKB_HUMAN			23	2499	-			694					A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	c.2080A>G	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	T	14.22	2.468955	0.43839	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	T;T;T;T;T;T;T	0.79940	-1.23;-1.23;-1.23;-1.23;-1.23;-1.23;-1.32	5.5	5.5	0.81552	Diacylglycerol kinase, accessory domain (2);	0.167730	0.45606	D	0.000345	T	0.68063	0.2960	N	0.14661	0.345	0.47737	D	0.999501	B;B;B;B	0.09022	0.0;0.001;0.001;0.002	B;B;B;B	0.12156	0.002;0.003;0.003;0.007	T	0.63010	-0.6732	10	0.32370	T	0.25	.	15.6097	0.76707	0.0:0.0:0.0:1.0	.	693;675;694;694	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	G	694;694;694;693;686;675;694	ENSP00000385780:R694G;ENSP00000382260:R694G;ENSP00000258767:R694G;ENSP00000384909:R693G;ENSP00000385031:R686G;ENSP00000388451:R675G;ENSP00000386066:R694G	ENSP00000258767:R694G	R	-	1	2	DGKB	14344710	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.160000	0.58164	2.079000	0.62486	0.528000	0.53228	AGG		0.393	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		4	178	0	0	0	0.00024832	0	4	178				
OR5R1	219479	broad.mit.edu	37	11	56185184	56185184	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr11:56185184G>C	ENST00000312253.1	-	1	524	c.525C>G	c.(523-525)aaC>aaG	p.N175K		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					AATAGAAATGGTTAATTAAGT	0.433																																						ENST00000312253.1																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(523-525)aaC>aaG		olfactory receptor, family 5, subfamily R, member 1							105.0	99.0	101.0					11																	56185184		2201	4296	6497	SO:0001583	missense	219479				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56185184G>C	AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"""GPCR / Class A : Olfactory receptors"""	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.525C>G	11.37:g.56185184G>C	ENSP00000308595:p.Asn175Lys						p.N175K	NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN			1	524	-	Esophageal squamous(21;0.00448)		175						Missense_Mutation	SNP	ENST00000312253.1	37	c.525C>G	CCDS31530.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.739153	0.30774	.	.	ENSG00000174942	ENST00000312253	T	0.00115	8.71	5.91	-6.89	0.01660	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00356	0.0011	M	0.76002	2.32	0.18873	N	0.999985	D	0.89917	1.0	D	0.77004	0.989	T	0.03453	-1.1035	9	0.54805	T	0.06	-17.04	11.3071	0.49342	0.576:0.0:0.3414:0.0827	.	175	Q8NH85	OR5R1_HUMAN	K	175	ENSP00000308595:N175K	ENSP00000308595:N175K	N	-	3	2	OR5R1	55941760	0.006000	0.16342	0.543000	0.28128	0.070000	0.16714	-0.529000	0.06186	-1.005000	0.03417	-0.986000	0.02555	AAC		0.433	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1	NM_001004744		20	98	0	0	0	0.000295444	0	20	98				
ASH1L	55870	broad.mit.edu	37	1	155307999	155308000	+	Frame_Shift_Ins	INS	-	-	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr1:155307999_155308000insT	ENST00000368346.3	-	27	9337_9338	c.8698_8699insA	c.(8698-8700)acafs	p.T2900fs	ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.T2895fs			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2900					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.T2895fs*44(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ACTTTCCTCTGTTTTTTTTTCA	0.52																																						ENST00000368346.3																			1	Deletion - Frameshift(1)	p.T2895fs*44(1)	large_intestine(1)	autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(8698-8700)agafs		ash1 (absent, small, or homeotic)-like (Drosophila)																																				SO:0001589	frameshift_variant	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155307999_155308000insT	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.8699dupA	1.37:g.155308008_155308008dupT	ENSP00000357330:p.Thr2900fs					ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.R2895fs	p.R2900fs			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		27	9337_9338	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		2900					Q59GP1|Q5T714|Q5T715|Q9P2C7	Frame_Shift_Ins	INS	ENST00000368346.3	37	c.8698_8699insA																																																																																					0.520	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		7	155						7	155	---	---	---	---
POM121C	100101267	broad.mit.edu	37	7	75053866	75053867	+	Frame_Shift_Ins	INS	-	-	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr7:75053866_75053867insT	ENST00000257665.5	-	9	1538_1539	c.1539_1540insA	c.(1537-1542)ctagacfs	p.D514fs	POM121C_ENST00000473168.1_5'UTR|POM121C_ENST00000453279.2_Frame_Shift_Ins_p.D272fs			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	514	Pore side. {ECO:0000255}.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						TTCTCTAAGTCTAGGTCCTCGG	0.51																																						ENST00000453279.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(811-816)ctacttfs		POM121 transmembrane nucleoporin C																																				SO:0001589	frameshift_variant	100101267				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding	g.chr7:75053866_75053867insT		CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"""POM121 membrane glycoprotein C"""			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238	ENST00000257665.5:c.1540dupA	7.37:g.75053867_75053867dupT	ENSP00000257665:p.Asp514fs					POM121C_ENST00000257665.5_Frame_Shift_Ins_p.L514fs|POM121C_ENST00000473168.1_5'UTR	p.L272fs	NM_001099415.1	NP_001092885.1	A8CG34	P121C_HUMAN			11	1677_1678	-			514			Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.		O75115|Q9Y2N3|Q9Y4S7	Frame_Shift_Ins	INS	ENST00000257665.5	37	c.813_814insA																																																																																					0.510	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	NM_001099415		102	194						102	194	---	---	---	---
