#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SV2A	9900	broad.mit.edu	37	1	149884966	149884966	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr1:149884966T>C	ENST00000369146.3	-	2	917	c.427A>G	c.(427-429)Aaa>Gaa	p.K143E	SV2A_ENST00000369145.1_Missense_Mutation_p.K143E	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	143					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	TCTCGTTCTTTCCGTCGTTGT	0.637																																						ENST00000369146.3																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55						c.(427-429)Aaa>Gaa		synaptic vesicle glycoprotein 2A	Levetiracetam(DB01202)						113.0	113.0	113.0					1																	149884966		2203	4300	6503	SO:0001583	missense	9900				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149884966T>C	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.427A>G	1.37:g.149884966T>C	ENSP00000358142:p.Lys143Glu		Somatic				SV2A_ENST00000369145.1_Missense_Mutation_p.K143E	p.K143E	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	WXS	Illumina GAIIx	Phase_I	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		2	917	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		143					D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Missense_Mutation	SNP	ENST00000369146.3	37	c.427A>G	CCDS940.1	.	.	.	.	.	.	.	.	.	.	T	9.659	1.143658	0.21205	.	.	ENSG00000159164	ENST00000369146;ENST00000369145	T;T	0.66995	0.78;-0.24	5.07	5.07	0.68467	Major facilitator superfamily domain, general substrate transporter (1);	0.126562	0.51477	D	0.000089	T	0.29288	0.0729	N	0.25144	0.715	0.58432	D	0.999999	B	0.11235	0.004	B	0.09377	0.004	T	0.23297	-1.0192	10	0.02654	T	1	-13.4933	14.1554	0.65415	0.0:0.0:0.0:1.0	.	143	Q7L0J3	SV2A_HUMAN	E	143	ENSP00000358142:K143E;ENSP00000358141:K143E	ENSP00000358141:K143E	K	-	1	0	SV2A	148151590	0.990000	0.36364	1.000000	0.80357	0.987000	0.75469	1.752000	0.38349	2.128000	0.65567	0.455000	0.32223	AAA		0.637	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			23	45	23	45	---	---	---	---
ZNF648	127665	broad.mit.edu	37	1	182025561	182025561	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr1:182025561C>A	ENST00000339948.3	-	2	1792	c.1585G>T	c.(1585-1587)Gag>Tag	p.E529*		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	529					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						TAGGGCCTCTCTCCGTTGTGC	0.612																																					NSCLC(71;908 1374 5429 20458 35642)	ENST00000339948.3																			0				breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						c.(1585-1587)Gag>Tag		zinc finger protein 648							159.0	125.0	137.0					1																	182025561		2203	4300	6503	SO:0001587	stop_gained	127665				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:182025561C>A	AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"""Zinc fingers, C2H2-type"""	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.1585G>T	1.37:g.182025561C>A	ENSP00000344129:p.Glu529*		Somatic					p.E529*	NM_001009992.1	NP_001009992.1	WXS	Illumina GAIIx	Phase_I	Q5T619	ZN648_HUMAN			2	1792	-			529					B2RP16	Nonsense_Mutation	SNP	ENST00000339948.3	37	c.1585G>T	CCDS30952.1	.	.	.	.	.	.	.	.	.	.	C	38	6.921294	0.97936	.	.	ENSG00000179930	ENST00000339948	.	.	.	2.77	1.81	0.25067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	8.8524	0.35208	0.2254:0.7746:0.0:0.0	.	.	.	.	X	529	.	ENSP00000344129:E529X	E	-	1	0	ZNF648	180292184	0.406000	0.25344	0.988000	0.46212	0.991000	0.79684	1.422000	0.34826	0.672000	0.31204	0.655000	0.94253	GAG		0.612	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	XM_060597		3	29	3	29	---	---	---	---
LCT	3938	broad.mit.edu	37	2	136570301	136570301	+	Silent	SNP	G	G	A			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr2:136570301G>A	ENST00000264162.2	-	7	1943	c.1933C>T	c.(1933-1935)Ctg>Ttg	p.L645L	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	645	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	TGGGTCCTCAGGGTGGCTGGG	0.577																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(1933-1935)Ctg>Ttg		lactase							113.0	98.0	103.0					2																	136570301		2203	4300	6503	SO:0001819	synonymous_variant	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136570301G>A	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.1933C>T	2.37:g.136570301G>A			Somatic					p.L645L	NM_002299.2	NP_002290.2	WXS	Illumina GAIIx	Phase_I	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	7	1943	-			645			4 X approximate repeats.		Q4ZG58	Silent	SNP	ENST00000264162.2	37	c.1933C>T	CCDS2178.1																																																																																				0.577	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		5	80	5	80	---	---	---	---
ILDR1	286676	broad.mit.edu	37	3	121724129	121724129	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr3:121724129C>T	ENST00000344209.5	-	3	467	c.341G>A	c.(340-342)gGg>gAg	p.G114E	ILDR1_ENST00000393631.1_Missense_Mutation_p.G114E|ILDR1_ENST00000462014.1_Missense_Mutation_p.G126E|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000273691.3_Missense_Mutation_p.G114E	NM_001199799.1	NP_001186728.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	114	Ig-like V-type.				positive regulation of peptide hormone secretion (GO:0090277)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-density lipoprotein particle receptor activity (GO:0070506)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GTAATCTACCCCCAGCACGGG	0.642																																						ENST00000273691.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(340-342)gGg>gAg		immunoglobulin-like domain containing receptor 1							39.0	39.0	39.0					3																	121724129		2203	4300	6503	SO:0001583	missense	286676					cytosol|integral to membrane|plasma membrane	receptor activity	g.chr3:121724129C>T	BC044240	CCDS3008.1, CCDS56270.1, CCDS56271.1	3q21.1	2013-10-11			ENSG00000145103	ENSG00000145103			28741	protein-coding gene	gene with protein product		609739	"""deafness, autosomal recessive 42"""	DFNB42		15641023, 21255762	Standard	NM_175924		Approved	MGC50831	uc003ees.3	Q86SU0	OTTHUMG00000159481	ENST00000344209.5:c.341G>A	3.37:g.121724129C>T	ENSP00000345667:p.Gly114Glu		Somatic				ILDR1_ENST00000462014.1_Missense_Mutation_p.G126E|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000344209.5_Missense_Mutation_p.G114E|ILDR1_ENST00000393631.1_Missense_Mutation_p.G114E	p.G114E	NM_175924.3	NP_787120.1	WXS	Illumina GAIIx	Phase_I	Q86SU0	ILDR1_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	3	446	-			114			Ig-like V-type.		Q6ZP61|Q7Z578	Missense_Mutation	SNP	ENST00000344209.5	37	c.341G>A	CCDS56271.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.629436	0.87660	.	.	ENSG00000145103	ENST00000273691;ENST00000344209;ENST00000393631;ENST00000462014	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	5.63	5.63	0.86233	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74951	0.3784	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	T	0.77501	-0.2564	10	0.87932	D	0	-37.0567	17.5361	0.87832	0.0:1.0:0.0:0.0	.	114;114;114;126	Q86SU0-5;Q86SU0;Q86SU0-2;Q86SU0-6	.;ILDR1_HUMAN;.;.	E	114;114;114;126	ENSP00000273691:G114E;ENSP00000345667:G114E;ENSP00000377251:G114E;ENSP00000419414:G126E	ENSP00000273691:G114E	G	-	2	0	ILDR1	123206819	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	7.442000	0.80503	2.802000	0.96397	0.563000	0.77884	GGG		0.642	ILDR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355666.1	NM_175924		3	32	3	32	---	---	---	---
LAMP3	27074	broad.mit.edu	37	3	182853620	182853620	+	Silent	SNP	C	C	T	rs369571047		TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr3:182853620C>T	ENST00000265598.3	-	5	1257	c.1002G>A	c.(1000-1002)ggG>ggA	p.G334G	LAMP3_ENST00000466939.1_Silent_p.G310G	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	334					cell proliferation (GO:0008283)|immune system process (GO:0002376)	alveolar lamellar body membrane (GO:0097233)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			TGAAGGAATGCCCGACTGCTG	0.468																																						ENST00000265598.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28						c.(1000-1002)ggG>ggA		lysosomal-associated membrane protein 3							293.0	279.0	284.0					3																	182853620		2203	4300	6503	SO:0001819	synonymous_variant	27074				cell proliferation	integral to membrane|lysosomal membrane		g.chr3:182853620C>T	AB013924	CCDS3242.1	3q26.3-q27	2011-11-24			ENSG00000078081	ENSG00000078081		"""CD molecules"""	14582	protein-coding gene	gene with protein product		605883				9721848	Standard	NM_014398		Approved	LAMP, TSC403, DC-LAMP, DCLAMP, CD208	uc003flh.4	Q9UQV4	OTTHUMG00000158387	ENST00000265598.3:c.1002G>A	3.37:g.182853620C>T			Somatic				LAMP3_ENST00000466939.1_Silent_p.G310G	p.G334G	NM_014398.3	NP_055213.2	WXS	Illumina GAIIx	Phase_I	Q9UQV4	LAMP3_HUMAN	all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)		5	1257	-	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		334					D3DNS4|O94781|Q8NEC8	Silent	SNP	ENST00000265598.3	37	c.1002G>A	CCDS3242.1																																																																																				0.468	LAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350863.1			5	383	5	383	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126372407	126372407	+	Missense_Mutation	SNP	G	G	C	rs371194603		TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr4:126372407G>C	ENST00000394329.3	+	9	10249	c.10236G>C	c.(10234-10236)caG>caC	p.Q3412H	FAT4_ENST00000335110.5_Missense_Mutation_p.Q1710H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3412	Cadherin 33. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACAGTGTGCAGATCAGTGAAG	0.463																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(10234-10236)caG>caC		FAT atypical cadherin 4		G	HIS/GLN	1,4405	2.1+/-5.4	0,1,2202	166.0	160.0	162.0		10236	3.3	1.0	4		162	0,8600		0,0,4300	no	missense	FAT4	NM_024582.4	24	0,1,6502	CC,CG,GG		0.0,0.0227,0.0077	probably-damaging	3412/4982	126372407	1,13005	2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126372407G>C	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.10236G>C	4.37:g.126372407G>C	ENSP00000377862:p.Gln3412His		Somatic				FAT4_ENST00000335110.5_Missense_Mutation_p.Q1710H	p.Q3412H	NM_024582.4	NP_078858.4	WXS	Illumina GAIIx	Phase_I	Q6V0I7	FAT4_HUMAN			9	10249	+			3412			Cadherin 33.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.10236G>C	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	11.82	1.752441	0.31046	2.27E-4	0.0	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01767	4.65;4.65	5.14	3.27	0.37495	Cadherin (3);Cadherin-like (1);	0.000000	0.32819	U	0.005604	T	0.03959	0.0111	L	0.28192	0.835	0.44789	D	0.997796	P;D;D	0.71674	0.828;0.998;0.998	P;D;D	0.83275	0.576;0.996;0.994	T	0.57057	-0.7876	10	0.46703	T	0.11	.	7.2205	0.25983	0.203:0.1332:0.6638:0.0	.	1710;3412;3412	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	H	3412;1710	ENSP00000377862:Q3412H;ENSP00000335169:Q1710H	ENSP00000335169:Q1710H	Q	+	3	2	FAT4	126591857	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	1.305000	0.33493	1.138000	0.42230	0.561000	0.74099	CAG		0.463	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		83	90	83	90	---	---	---	---
PCDHGB1	56104	broad.mit.edu	37	5	140731932	140731932	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr5:140731932C>T	ENST00000523390.1	+	1	2105	c.2105C>T	c.(2104-2106)gCg>gTg	p.A702V	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_5'Flank|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	702					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTCTCCTCGCGGTGATTCTA	0.617																																						ENST00000523390.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16						c.(2104-2106)gCg>gTg									125.0	136.0	132.0					5																	140731932		2078	4197	6275	SO:0001583	missense	56104							g.chr5:140731932C>T	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.2105C>T	5.37:g.140731932C>T	ENSP00000429273:p.Ala702Val		Somatic				PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.A702V	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2105	+								Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	c.2105C>T	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	9.121	1.008912	0.19199	.	.	ENSG00000254221	ENST00000523390	T	0.16457	2.34	5.68	3.87	0.44632	.	.	.	.	.	T	0.15825	0.0381	M	0.62723	1.935	0.09310	N	1	B;P	0.35908	0.126;0.527	B;B	0.26517	0.065;0.07	T	0.13656	-1.0501	9	0.45353	T	0.12	.	8.4801	0.33038	0.0:0.7259:0.1296:0.1445	.	702;702	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	V	702	ENSP00000429273:A702V	ENSP00000429273:A702V	A	+	2	0	PCDHGB1	140712116	0.502000	0.26107	0.126000	0.21872	0.028000	0.11728	-0.229000	0.09098	1.532000	0.49169	0.655000	0.94253	GCG		0.617	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		8	184	8	184	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100683689	100683689	+	Missense_Mutation	SNP	C	C	T	rs540856466	byFrequency	TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr7:100683689C>T	ENST00000306151.4	+	3	9056	c.8992C>T	c.(8992-8994)Ccg>Tcg	p.P2998S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2998	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGCACCATGCCGGTGGCCAG	0.507													C|||	2	0.000399361	0.0	0.0029	5008	,	,		25028	0.0		0.0	False		,,,				2504	0.0					ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(8992-8994)Ccg>Tcg		mucin 17, cell surface associated							250.0	262.0	258.0					7																	100683689		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683689C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.8992C>T	7.37:g.100683689C>T	ENSP00000302716:p.Pro2998Ser		Somatic					p.P2998S	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	Q685J3	MUC17_HUMAN			3	9056	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2998			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.8992C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0.230	-1.021399	0.02061	.	.	ENSG00000169876	ENST00000306151	T	0.06608	3.28	.	.	.	.	.	.	.	.	T	0.05686	0.0149	N	0.17082	0.46	0.09310	N	1	D	0.57571	0.98	P	0.59424	0.857	T	0.06935	-1.0799	7	0.09084	T	0.74	.	.	.	.	.	2998	Q685J3	MUC17_HUMAN	S	2998	ENSP00000302716:P2998S	ENSP00000302716:P2998S	P	+	1	0	MUC17	100470409	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-4.091000	0.00297	-1.495000	0.01831	-1.492000	0.00969	CCG		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		5	572	5	572	---	---	---	---
PDP1	54704	broad.mit.edu	37	8	94934399	94934399	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr8:94934399T>C	ENST00000297598.4	+	2	381	c.112T>C	c.(112-114)Tac>Cac	p.Y38H	PDP1_ENST00000517764.1_Missense_Mutation_p.Y38H|PDP1_ENST00000396200.3_Missense_Mutation_p.Y63H|PDP1_ENST00000520728.1_Missense_Mutation_p.Y38H	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	38					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						TTCCTCATCGTACATTCCTCA	0.468																																						ENST00000396200.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						c.(187-189)Tac>Cac		pyruvate dehyrogenase phosphatase catalytic subunit 1							175.0	152.0	160.0					8																	94934399		2203	4300	6503	SO:0001583	missense	54704				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity	g.chr8:94934399T>C	AF155661	CCDS6259.1, CCDS55262.1	8q22.1	2012-04-17	2009-06-12	2009-06-12	ENSG00000164951	ENSG00000164951	3.1.3.43	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9279	protein-coding gene	gene with protein product		605993	"""protein phosphatase 2C, magnesium-dependent, catalytic subunit"""	PPM2C		8396421	Standard	NM_001161779		Approved	PDP, PDH	uc003ygf.3	Q9P0J1		ENST00000297598.4:c.112T>C	8.37:g.94934399T>C	ENSP00000297598:p.Tyr38His		Somatic				PDP1_ENST00000297598.4_Missense_Mutation_p.Y38H|PDP1_ENST00000520728.1_Missense_Mutation_p.Y38H|PDP1_ENST00000517764.1_Missense_Mutation_p.Y38H	p.Y63H	NM_001161779.1	NP_001155251.1	WXS	Illumina GAIIx	Phase_I	Q9P0J1	PDP1_HUMAN			3	463	+			38					B3KX71|J3KPU0|Q5U5K1	Missense_Mutation	SNP	ENST00000297598.4	37	c.187T>C	CCDS6259.1	.	.	.	.	.	.	.	.	.	.	T	0.010	-1.794165	0.00617	.	.	ENSG00000164951	ENST00000297598;ENST00000520614;ENST00000520728;ENST00000518107;ENST00000396200;ENST00000518573;ENST00000517764;ENST00000518827;ENST00000521144	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	6.16	5.13	0.70059	.	0.319061	0.28618	N	0.014706	T	0.10594	0.0259	N	0.00538	-1.39	0.19300	N	0.999979	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.23332	-1.0191	10	0.11485	T	0.65	-4.5192	3.3949	0.07302	0.0:0.5298:0.0:0.4702	.	89;38	B4DYX8;Q9P0J1	.;PDP1_HUMAN	H	38;38;38;38;63;38;38;38;38	ENSP00000297598:Y38H;ENSP00000428317:Y38H;ENSP00000379503:Y63H;ENSP00000430380:Y38H	ENSP00000297598:Y38H	Y	+	1	0	PDP1	95003575	0.284000	0.24287	0.016000	0.15963	0.047000	0.14425	2.308000	0.43690	1.205000	0.43262	0.528000	0.53228	TAC		0.468	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378415.2	NM_018444		32	85	32	85	---	---	---	---
KIAA1429	25962	broad.mit.edu	37	8	95538772	95538772	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr8:95538772T>G	ENST00000297591.5	-	8	1775	c.1700A>C	c.(1699-1701)aAa>aCa	p.K567T	KIAA1429_ENST00000437199.1_Missense_Mutation_p.K567T|KIAA1429_ENST00000421249.2_Missense_Mutation_p.K567T	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	567					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			ACCAAGTCTTTTAATCTCTGA	0.418																																						ENST00000297591.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(1699-1701)aAa>aCa		KIAA1429							124.0	123.0	123.0					8																	95538772		2203	4300	6503	SO:0001583	missense	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95538772T>G	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.1700A>C	8.37:g.95538772T>G	ENSP00000297591:p.Lys567Thr		Somatic				KIAA1429_ENST00000437199.1_Missense_Mutation_p.K567T|KIAA1429_ENST00000421249.2_Missense_Mutation_p.K567T	p.K567T	NM_015496.4	NP_056311.2	WXS	Illumina GAIIx	Phase_I	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		8	1775	-	Breast(36;3.29e-05)		567					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	c.1700A>C	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	T	16.07	3.019584	0.54576	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	T;T;T	0.54279	0.59;0.6;0.58	5.95	5.95	0.96441	.	0.051192	0.85682	D	0.000000	T	0.52306	0.1726	L	0.27053	0.805	0.52501	D	0.999955	P;P	0.50528	0.936;0.936	P;P	0.50934	0.654;0.654	T	0.55617	-0.8113	10	0.59425	D	0.04	-24.2699	16.4069	0.83677	0.0:0.0:0.0:1.0	.	567;567	Q69YN4-4;Q69YN4	.;VIR_HUMAN	T	567	ENSP00000297591:K567T;ENSP00000395600:K567T;ENSP00000398390:K567T	ENSP00000297591:K567T	K	-	2	0	KIAA1429	95607948	1.000000	0.71417	1.000000	0.80357	0.493000	0.33554	4.141000	0.58038	2.272000	0.75746	0.460000	0.39030	AAA		0.418	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		202	123	202	123	---	---	---	---
DBH	1621	broad.mit.edu	37	9	136513016	136513016	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr9:136513016G>A	ENST00000393056.2	+	6	1085	c.1073G>A	c.(1072-1074)cGg>cAg	p.R358Q		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	358					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	GCCAAGCTGCGGCGCTTCAAC	0.607																																						ENST00000393056.2																			0				central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(1072-1074)cGg>cAg		dopamine beta-hydroxylase (dopamine beta-monooxygenase)	Dopamine(DB00988)|Vitamin C(DB00126)						113.0	86.0	95.0					9																	136513016		2203	4300	6503	SO:0001583	missense	1621				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	g.chr9:136513016G>A	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.1073G>A	9.37:g.136513016G>A	ENSP00000376776:p.Arg358Gln		Somatic					p.R358Q	NM_000787.3	NP_000778.3	WXS	Illumina GAIIx	Phase_I	P09172	DOPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	6	1085	+			358					Q5T381|Q96AG2	Missense_Mutation	SNP	ENST00000393056.2	37	c.1073G>A	CCDS6977.2	.	.	.	.	.	.	.	.	.	.	G	20.8	4.044620	0.75732	.	.	ENSG00000123454	ENST00000393056	T	0.67523	-0.27	4.95	4.95	0.65309	Copper type II, ascorbate-dependent monooxygenase, N-terminal (1);PHM/PNGase F domain (2);	0.000000	0.85682	D	0.000000	D	0.85767	0.5773	M	0.91090	3.175	0.58432	D	0.999999	D	0.89917	1.0	D	0.79108	0.992	D	0.89456	0.3733	10	0.87932	D	0	-25.9727	18.1753	0.89759	0.0:0.0:1.0:0.0	.	358	P09172	DOPO_HUMAN	Q	358	ENSP00000376776:R358Q	ENSP00000376776:R358Q	R	+	2	0	DBH	135502837	1.000000	0.71417	0.851000	0.33527	0.101000	0.19017	9.071000	0.93980	2.274000	0.75844	0.561000	0.74099	CGG		0.607	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		21	33	21	33	---	---	---	---
RECQL	5965	broad.mit.edu	37	12	21626537	21626537	+	Silent	SNP	T	T	C			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr12:21626537T>C	ENST00000444129.2	-	12	1863	c.1395A>G	c.(1393-1395)gtA>gtG	p.V465V	RECQL_ENST00000421138.2_Silent_p.V465V	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	465					DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						CTGAGTTCCATACTTCATCAA	0.323								Other identified genes with known or suspected DNA repair function																														ENST00000444129.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(1393-1395)gtA>gtG	Other identified genes with known or suspected DNA repair function	RecQ protein-like (DNA helicase Q1-like)							137.0	111.0	120.0					12																	21626537		2202	4299	6501	SO:0001819	synonymous_variant	5965				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding	g.chr12:21626537T>C	D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"""DNA helicase Q1-like"""	600537	"""RecQ protein-like (DNA helicase Q1-like)"""			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.1395A>G	12.37:g.21626537T>C			Somatic				RECQL_ENST00000421138.2_Silent_p.V465V	p.V465V	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	WXS	Illumina GAIIx	Phase_I	P46063	RECQ1_HUMAN			12	1863	-			465					A8K6G2	Silent	SNP	ENST00000444129.2	37	c.1395A>G	CCDS31756.1																																																																																				0.323	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402371.1	NM_002907		4	49	4	49	---	---	---	---
C15orf57	90416	broad.mit.edu	37	15	40855084	40855084	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr15:40855084A>C	ENST00000358005.3	-	2	404	c.131T>G	c.(130-132)gTg>gGg	p.V44G	C15orf57_ENST00000558871.1_Missense_Mutation_p.V44G|C15orf57_ENST00000561011.1_Missense_Mutation_p.V44G|C15orf57_ENST00000560109.1_5'UTR|C15orf57_ENST00000558113.1_Missense_Mutation_p.V44G|C15orf57_ENST00000416810.2_Missense_Mutation_p.V44G|C15orf57_ENST00000559911.1_Missense_Mutation_p.V44G|C15orf57_ENST00000560305.1_Missense_Mutation_p.V44G|C15orf57_ENST00000558750.1_Missense_Mutation_p.V53G	NM_001080791.1|NM_052849.2	NP_001074260.1|NP_443081.1	Q9BV29	CO057_HUMAN	chromosome 15 open reading frame 57	44										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	9						GCAAGAATCCACAAAGGAGTC	0.512																																						ENST00000358005.3																			0				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	9						c.(130-132)gTg>gGg		chromosome 15 open reading frame 57							183.0	177.0	179.0					15																	40855084		2203	4300	6503	SO:0001583	missense	90416							g.chr15:40855084A>C	BC012189	CCDS10060.1, CCDS42022.1, CCDS73706.1	15q15.1	2008-05-30	2008-05-30	2008-05-30	ENSG00000128891	ENSG00000128891			28295	protein-coding gene	gene with protein product			"""coiled-coil domain containing 32"""	CCDC32		12477932	Standard	NM_001080791		Approved	MGC20481	uc001zma.1	Q9BV29	OTTHUMG00000129993	ENST00000358005.3:c.131T>G	15.37:g.40855084A>C	ENSP00000350695:p.Val44Gly		Somatic				C15orf57_ENST00000558113.1_Missense_Mutation_p.V44G|C15orf57_ENST00000416810.2_Missense_Mutation_p.V44G|C15orf57_ENST00000559911.1_Missense_Mutation_p.V44G|C15orf57_ENST00000560109.1_5'UTR|C15orf57_ENST00000560305.1_Missense_Mutation_p.V44G|C15orf57_ENST00000558750.1_Missense_Mutation_p.V53G|C15orf57_ENST00000561011.1_Missense_Mutation_p.V44G|C15orf57_ENST00000558871.1_Missense_Mutation_p.V44G	p.V44G	NM_001080791.1|NM_052849.2	NP_001074260.1|NP_443081.1	WXS	Illumina GAIIx	Phase_I	Q9BV29	CO057_HUMAN			2	404	-			44					A8KAL4|Q86TC4|Q8N788|Q8NAR7	Missense_Mutation	SNP	ENST00000358005.3	37	c.131T>G	CCDS10060.1	.	.	.	.	.	.	.	.	.	.	A	10.31	1.314631	0.23908	.	.	ENSG00000128891	ENST00000358005;ENST00000416810	T	0.45276	0.9	4.92	3.79	0.43588	.	0.729179	0.13713	N	0.367942	T	0.22742	0.0549	N	0.08118	0	0.39122	D	0.961689	B;B;B	0.27416	0.178;0.178;0.078	B;B;B	0.24541	0.054;0.054;0.054	T	0.14727	-1.0462	10	0.66056	D	0.02	-22.3122	8.5492	0.33440	0.8501:0.0:0.1499:0.0	.	44;53;44	Q9BV29;Q9BV29-2;Q9BV29-3	CO057_HUMAN;.;.	G	44;53	ENSP00000350695:V44G	ENSP00000350695:V44G	V	-	2	0	C15orf57	38642376	0.600000	0.26899	0.903000	0.35520	0.295000	0.27426	1.157000	0.31724	1.969000	0.57287	0.454000	0.30748	GTG		0.512	C15orf57-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252259.2	NM_052849		24	233	24	233	---	---	---	---
CAPN3	825	broad.mit.edu	37	15	42681285	42681285	+	Silent	SNP	C	C	T			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr15:42681285C>T	ENST00000397163.3	+	5	1011	c.792C>T	c.(790-792)tgC>tgT	p.C264C	RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000357568.3_Silent_p.C264C|CAPN3_ENST00000356316.3_Silent_p.C177C|CAPN3_ENST00000318023.7_Silent_p.C264C|CAPN3_ENST00000349748.3_Silent_p.C264C	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	264	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		TCATGGGCTGCTCCATTGATG	0.527																																						ENST00000397163.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47						c.(790-792)tgC>tgT		calpain 3, (p94)							82.0	82.0	82.0					15																	42681285		2203	4299	6502	SO:0001819	synonymous_variant	825				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	g.chr15:42681285C>T	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.792C>T	15.37:g.42681285C>T			Somatic				CAPN3_ENST00000357568.3_Silent_p.C264C|CAPN3_ENST00000318023.7_Silent_p.C264C|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Silent_p.C177C|CAPN3_ENST00000349748.3_Silent_p.C264C	p.C264C	NM_000070.2	NP_000061.1	WXS	Illumina GAIIx	Phase_I	P20807	CAN3_HUMAN		GBM - Glioblastoma multiforme(94;7.36e-07)	5	1011	+		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	264			Calpain catalytic.		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Silent	SNP	ENST00000397163.3	37	c.792C>T	CCDS45245.1																																																																																				0.527	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			24	65	24	65	---	---	---	---
KMT2B	9757	broad.mit.edu	37	19	36211883	36211883	+	Missense_Mutation	SNP	G	G	A	rs202218975		TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr19:36211883G>A	ENST00000222270.7	+	3	1634	c.1634G>A	c.(1633-1635)cGa>cAa	p.R545Q	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000341701.1_Intron|KMT2B_ENST00000420124.1_Missense_Mutation_p.R545Q	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	545	Pro-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										ACACCCCGGCGATTTATGGAT	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		8240	0.0		0.001	False		,,,				2504	0.0					ENST00000222270.7																			0											c.(1633-1635)cGa>cAa		lysine (K)-specific methyltransferase 2B							32.0	36.0	35.0					19																	36211883		1925	4134	6059	SO:0001583	missense	9757							g.chr19:36211883G>A	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.1634G>A	19.37:g.36211883G>A	ENSP00000222270:p.Arg545Gln		Somatic				KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.R545Q|KMT2B_ENST00000341701.1_Intron	p.R545Q	NM_014727.1	NP_055542.1	WXS	Illumina GAIIx	Phase_I					3	1634	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.1634G>A	CCDS46055.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	15.38	2.815302	0.50527	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.88586	-2.4;-2.4	4.62	4.62	0.57501	.	0.000000	0.33572	N	0.004776	D	0.88908	0.6565	N	0.14661	0.345	0.45330	D	0.998328	D	0.89917	1.0	D	0.79108	0.992	D	0.88787	0.3275	10	0.34782	T	0.22	.	16.3929	0.83545	0.0:0.0:1.0:0.0	.	545	Q9UMN6	MLL4_HUMAN	Q	545	ENSP00000222270:R545Q;ENSP00000398837:R545Q	ENSP00000222270:R545Q	R	+	2	0	AD000671.1	40903723	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.712000	0.91403	2.400000	0.81607	0.555000	0.69702	CGA		0.587	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		7	8	7	8	---	---	---	---
HLA-DQA2	3118	broad.mit.edu	37	6	32712958	32712958	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr6:32712958delT	ENST00000374940.3	+	2	207	c.105delT	c.(103-105)ggtfs	p.G35fs		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	35	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""""""Insulin(DB00071)"""	CCTCCTATGGTGTGAACTTCT	0.488																																						ENST00000374940.3																			0				endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13						c.(103-105)ggtfs		major histocompatibility complex, class II, DQ alpha 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						207.0	204.0	205.0					6																	32712958		1511	2709	4220	SO:0001589	frameshift_variant	3118				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32712958delT		CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.105delT	6.37:g.32712958delT	ENSP00000364076:p.Gly35fs		Somatic					p.G35fs	NM_020056.4	NP_064440.1	WXS	Illumina GAIIx	Phase_I	P01906	DQA2_HUMAN			2	207	+			35			Alpha-1.		A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Frame_Shift_Del	DEL	ENST00000374940.3	37	c.105delT	CCDS4753.1																																																																																				0.488	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076179.2	NM_020056		7	210	7	210	---	---	---	---
