#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
CROCCP2	84809	broad.mit.edu	37	1	16946393	16946393	+	lincRNA	SNP	G	G	A			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr1:16946393G>A	ENST00000412962.1	-	0	1126				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											TCCTGCTGCAGGGCAGCAATC	0.662																																						ENST00000412962.1																			0																																																			84809							g.chr1:16946393G>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946393G>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	1126	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.662	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		3	22	3	22	---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152328894	152328894	+	Missense_Mutation	SNP	A	A	T			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr1:152328894A>T	ENST00000388718.5	-	3	1440	c.1368T>A	c.(1366-1368)caT>caA	p.H456Q	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	456	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGTAGACTCATGCTGGCCAC	0.493																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(1366-1368)caT>caA		filaggrin family member 2							188.0	181.0	183.0					1																	152328894		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152328894A>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.1368T>A	1.37:g.152328894A>T	ENSP00000373370:p.His456Gln		Somatic				FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.H456Q	NM_001014342.2	NP_001014364.1	WXS	Illumina GAIIx	Phase_I	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1440	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		456			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.1368T>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	A	9.785	1.176370	0.21704	.	.	ENSG00000143520	ENST00000388718	T	0.26518	1.73	3.36	-2.0	0.07433	.	.	.	.	.	T	0.05044	0.0135	L	0.46157	1.445	0.09310	N	1	B	0.34290	0.447	B	0.29440	0.102	T	0.38134	-0.9675	9	0.13470	T	0.59	.	5.5191	0.16923	0.3277:0.5125:0.1597:0.0	.	456	Q5D862	FILA2_HUMAN	Q	456	ENSP00000373370:H456Q	ENSP00000373370:H456Q	H	-	3	2	FLG2	150595518	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-1.343000	0.02642	-0.514000	0.06488	0.459000	0.35465	CAT		0.493	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		4	154	4	154	---	---	---	---
SWT1	54823	broad.mit.edu	37	1	185159704	185159704	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr1:185159704G>T	ENST00000367500.4	+	10	1618	c.1453G>T	c.(1453-1455)Gat>Tat	p.D485Y	SWT1_ENST00000367501.3_Missense_Mutation_p.D485Y	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	485	PINc.									breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						TGAGAACAATGATGATCGAGT	0.363																																						ENST00000367500.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						c.(1453-1455)Gat>Tat		SWT1 RNA endoribonuclease homolog (S. cerevisiae)							173.0	154.0	160.0					1																	185159704		2203	4300	6503	SO:0001583	missense	54823							g.chr1:185159704G>T	AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.1453G>T	1.37:g.185159704G>T	ENSP00000356470:p.Asp485Tyr		Somatic				SWT1_ENST00000367501.3_Missense_Mutation_p.D485Y	p.D485Y	NM_017673.6	NP_060143.4	WXS	Illumina GAIIx	Phase_I	Q5T5J6	SWT1_HUMAN			10	1618	+			485			PINc.		Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	ENST00000367500.4	37	c.1453G>T	CCDS1367.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.263229	0.80358	.	.	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.81163	-1.46;-1.46	5.65	5.65	0.86999	Nucleotide binding protein, PINc (1);	0.000000	0.85682	D	0.000000	D	0.92551	0.7634	M	0.93594	3.435	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.94051	0.7318	10	0.87932	D	0	.	17.9094	0.88929	0.0:0.0:1.0:0.0	.	485	Q5T5J6	SWT1_HUMAN	Y	485	ENSP00000356471:D485Y;ENSP00000356470:D485Y	ENSP00000356470:D485Y	D	+	1	0	SWT1	183426327	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.205000	0.77881	2.649000	0.89929	0.655000	0.94253	GAT		0.363	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673		10	30	10	30	---	---	---	---
SPAG16	79582	broad.mit.edu	37	2	215274874	215274874	+	Silent	SNP	A	A	G			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr2:215274874A>G	ENST00000331683.5	+	16	1826	c.1731A>G	c.(1729-1731)ttA>ttG	p.L577L	VWC2L_ENST00000427124.1_5'Flank|AC107218.3_ENST00000412896.1_RNA|AC107218.3_ENST00000437883.1_RNA|SPAG16_ENST00000374309.3_Silent_p.L483L|VWC2L_ENST00000312504.5_5'Flank	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	577					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GTCGAGTTTTAGCTCAGGCAA	0.413																																						ENST00000331683.5																			0				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56						c.(1729-1731)ttA>ttG		sperm associated antigen 16							79.0	76.0	77.0					2																	215274874		2203	4300	6503	SO:0001819	synonymous_variant	79582				cilium assembly	cilium axoneme|flagellar axoneme		g.chr2:215274874A>G	AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.1731A>G	2.37:g.215274874A>G			Somatic				AC107218.3_ENST00000412896.1_RNA|SPAG16_ENST00000374309.3_Silent_p.L483L|AC107218.3_ENST00000437883.1_RNA	p.L577L	NM_024532.4	NP_078808.3	WXS	Illumina GAIIx	Phase_I	Q8N0X2	SPG16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)	16	1826	+		Renal(323;0.00461)	577					Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Silent	SNP	ENST00000331683.5	37	c.1731A>G	CCDS2396.1																																																																																				0.413	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532		3	48	3	48	---	---	---	---
ST3GAL6	10402	broad.mit.edu	37	3	98487336	98487336	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr3:98487336G>T	ENST00000483910.1	+	2	341	c.52G>T	c.(52-54)Gta>Tta	p.V18L	ST3GAL6_ENST00000468553.1_Missense_Mutation_p.V18L|ST3GAL6_ENST00000265261.6_5'UTR|ST3GAL6_ENST00000394162.1_Missense_Mutation_p.V18L|ST3GAL6_ENST00000462152.1_Intron	NM_001271146.1	NP_001258075.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	18					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|cellular response to interleukin-6 (GO:0071354)|glycolipid metabolic process (GO:0006664)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,3-sialyltransferase activity (GO:0052798)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						CCTCTATTATGTACTGCATTG	0.398																																						ENST00000394162.1																			0				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						c.(52-54)Gta>Tta		ST3 beta-galactoside alpha-2,3-sialyltransferase 6							253.0	233.0	239.0					3																	98487336		2203	4300	6503	SO:0001583	missense	10402				amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity	g.chr3:98487336G>T	AF119391	CCDS2933.1, CCDS59452.1, CCDS74968.1	3q12.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000064225	ENSG00000064225		"""Sialyltransferases"""	18080	protein-coding gene	gene with protein product		607156	"""sialyltransferase 10 (alpha-2,3-sialyltransferase VI)"""	SIAT10		10206952	Standard	NM_006100		Approved	ST3GALVI	uc010hpd.4	Q9Y274	OTTHUMG00000159047	ENST00000483910.1:c.52G>T	3.37:g.98487336G>T	ENSP00000417376:p.Val18Leu		Somatic				ST3GAL6_ENST00000265261.6_5'UTR|ST3GAL6_ENST00000462152.1_Intron|ST3GAL6_ENST00000483910.1_Missense_Mutation_p.V18L|ST3GAL6_ENST00000468553.1_Missense_Mutation_p.V18L	p.V18L	NM_001271145.1|NM_006100.3	NP_001258074.1|NP_006091.1	WXS	Illumina GAIIx	Phase_I	Q9Y274	SIA10_HUMAN			3	519	+			18					B2RCH2|B3KMI1|D3DN39|F8W6U0	Missense_Mutation	SNP	ENST00000483910.1	37	c.52G>T	CCDS2933.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.702759	0.48307	.	.	ENSG00000064225	ENST00000483910;ENST00000460774;ENST00000497008;ENST00000486334;ENST00000394162;ENST00000468553;ENST00000485391;ENST00000492254	T;T;T;T	0.50813	0.89;0.88;0.89;0.73	6.06	5.18	0.71444	.	0.361557	0.24398	N	0.038872	T	0.32224	0.0822	L	0.27053	0.805	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.09377	0.004;0.004	T	0.08743	-1.0707	10	0.15066	T	0.55	-6.9906	11.645	0.51255	0.083:0.0:0.917:0.0	.	41;18	C9J480;Q9Y274	.;SIA10_HUMAN	L	18;18;18;18;18;18;18;41	ENSP00000417376:V18L;ENSP00000418896:V18L;ENSP00000377717:V18L;ENSP00000417201:V41L	ENSP00000377717:V18L	V	+	1	0	ST3GAL6	99970026	0.971000	0.33674	0.996000	0.52242	0.981000	0.71138	1.666000	0.37460	2.882000	0.98803	0.655000	0.94253	GTA		0.398	ST3GAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353013.2	NM_006100		41	88	41	88	---	---	---	---
SPATA5	166378	broad.mit.edu	37	4	123848881	123848881	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr4:123848881G>C	ENST00000274008.4	+	2	325	c.256G>C	c.(256-258)Gtg>Ctg	p.V86L	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	86					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						AGGTCGACCAGTGTTGCTTAC	0.343																																						ENST00000274008.4																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(256-258)Gtg>Ctg		spermatogenesis associated 5							133.0	130.0	131.0					4																	123848881		2203	4300	6503	SO:0001583	missense	166378				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	g.chr4:123848881G>C	AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"""ATPases / AAA-type"""	18119	protein-coding gene	gene with protein product	"""ATPase family gene 2 homolog (S. cerevisiae)"""	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.256G>C	4.37:g.123848881G>C	ENSP00000274008:p.Val86Leu		Somatic				SPATA5_ENST00000422835.2_3'UTR	p.V86L	NM_145207.2	NP_660208.2	WXS	Illumina GAIIx	Phase_I	Q8NB90	SPAT5_HUMAN			2	325	+								C9JT97|Q86XW1|Q8NI20|Q8TDL7	Missense_Mutation	SNP	ENST00000274008.4	37	c.256G>C	CCDS3730.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.611871	0.66558	.	.	ENSG00000145375	ENST00000274008	D	0.87334	-2.24	4.38	4.38	0.52667	Aspartate decarboxylase-like fold (1);	0.000000	0.64402	D	0.000001	D	0.88112	0.6349	L	0.59436	1.845	0.45867	D	0.998721	D;D	0.61697	0.982;0.99	B;P	0.49301	0.401;0.606	D	0.89810	0.3981	10	0.72032	D	0.01	-15.0092	15.7091	0.77609	0.0:0.0:1.0:0.0	.	86;86	Q8NB90;Q8NB90-3	SPAT5_HUMAN;.	L	86	ENSP00000274008:V86L	ENSP00000274008:V86L	V	+	1	0	SPATA5	124068331	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.828000	0.69307	2.459000	0.83118	0.655000	0.94253	GTG		0.343	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2	NM_145207		34	55	34	55	---	---	---	---
GCNT2	2651	broad.mit.edu	37	6	10556756	10556756	+	Intron	SNP	C	C	T			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr6:10556756C>T	ENST00000379597.3	+	1	1481				GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000316170.3_Nonsense_Mutation_p.Q34*			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)						maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TCCAAGCTTCCAAAGGCTAAA	0.373																																						ENST00000316170.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12						c.(100-102)Caa>Taa		glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)							98.0	98.0	98.0					6																	10556756		2203	4300	6503	SO:0001627	intron_variant	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10556756C>T	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.925+26687C>T	6.37:g.10556756C>T			Somatic				GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000379597.3_Intron	p.Q34*	NM_001491.2	NP_001482.1	WXS	Illumina GAIIx	Phase_I	Q8N0V5	GNT2A_HUMAN		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	1	517	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	35						Nonsense_Mutation	SNP	ENST00000379597.3	37	c.100C>T	CCDS34338.1	.	.	.	.	.	.	.	.	.	.	C	41	9.059488	0.99051	.	.	ENSG00000111846	ENST00000316170	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	17.669	0.88211	0.0:1.0:0.0:0.0	.	.	.	.	X	34	.	ENSP00000314844:Q34X	Q	+	1	0	GCNT2	10664742	1.000000	0.71417	0.981000	0.43875	0.935000	0.57460	2.868000	0.48436	2.576000	0.86940	0.655000	0.94253	CAA		0.373	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		36	70	36	70	---	---	---	---
CNR1	1268	broad.mit.edu	37	6	88853757	88853757	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr6:88853757G>A	ENST00000537554.1	-	2	4799	c.1237C>T	c.(1237-1239)Ccc>Tcc	p.P413S	CNR1_ENST00000468898.1_Missense_Mutation_p.P380S|CNR1_ENST00000549716.1_Missense_Mutation_p.P352S|CNR1_ENST00000369501.2_Missense_Mutation_p.P413S|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000369499.2_Missense_Mutation_p.P413S|CNR1_ENST00000428600.2_Missense_Mutation_p.P413S|CNR1_ENST00000535130.1_Missense_Mutation_p.P413S|CNR1_ENST00000549890.1_Missense_Mutation_p.P413S	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	413					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TCACAAGAGGGAAACATGCTC	0.562																																						ENST00000537554.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37						c.(1237-1239)Ccc>Tcc		cannabinoid receptor 1 (brain)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)						163.0	147.0	152.0					6																	88853757		2203	4300	6503	SO:0001583	missense	1268				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	g.chr6:88853757G>A	AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"""GPCR / Class A : Cannabinoid receptors"""	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.1237C>T	6.37:g.88853757G>A	ENSP00000441046:p.Pro413Ser		Somatic				CNR1_ENST00000549716.1_Missense_Mutation_p.P352S|CNR1_ENST00000428600.2_Missense_Mutation_p.P413S|CNR1_ENST00000535130.1_Missense_Mutation_p.P413S|CNR1_ENST00000369499.2_Missense_Mutation_p.P413S|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000468898.1_Missense_Mutation_p.P380S|CNR1_ENST00000369501.2_Missense_Mutation_p.P413S|CNR1_ENST00000549890.1_Missense_Mutation_p.P413S	p.P413S	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	WXS	Illumina GAIIx	Phase_I	P21554	CNR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.15)	2	4799	-		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	413					B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Missense_Mutation	SNP	ENST00000537554.1	37	c.1237C>T	CCDS5015.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.078093	0.00375	.	.	ENSG00000118432	ENST00000369501;ENST00000535130;ENST00000537554;ENST00000369499;ENST00000549890;ENST00000468898;ENST00000428600;ENST00000549716	T;T;T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27;1.27;1.27;1.27	5.94	5.07	0.68467	.	0.125415	0.53938	D	0.000051	T	0.09423	0.0232	N	0.19112	0.55	0.52099	D	0.999947	B;B	0.24426	0.103;0.008	B;B	0.25140	0.058;0.003	T	0.08310	-1.0728	10	0.02654	T	1	.	15.1709	0.72872	0.0675:0.0:0.9325:0.0	.	380;413	P21554-3;P21554	.;CNR1_HUMAN	S	413;413;413;413;413;380;413;352	ENSP00000358513:P413S;ENSP00000442689:P413S;ENSP00000441046:P413S;ENSP00000358511:P413S;ENSP00000446819:P413S;ENSP00000420188:P380S;ENSP00000412192:P413S;ENSP00000449549:P352S	ENSP00000358511:P413S	P	-	1	0	CNR1	88910476	1.000000	0.71417	1.000000	0.80357	0.015000	0.08874	6.421000	0.73353	1.518000	0.48934	-0.140000	0.14226	CCC		0.562	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2			33	75	33	75	---	---	---	---
PRKDC	5591	broad.mit.edu	37	8	48776073	48776073	+	Silent	SNP	C	C	A			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr8:48776073C>A	ENST00000314191.2	-	43	5690	c.5634G>T	c.(5632-5634)gtG>gtT	p.V1878V	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.V1878V	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1879					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GAGAATACATCACGTCTAGAA	0.333								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(5632-5634)gtG>gtT	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							168.0	166.0	166.0					8																	48776073		1847	4091	5938	SO:0001819	synonymous_variant	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48776073C>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.5634G>T	8.37:g.48776073C>A			Somatic				PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.V1878V	p.V1878V	NM_006904.6	NP_008835.5	WXS	Illumina GAIIx	Phase_I	P78527	PRKDC_HUMAN			43	5690	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	1879					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	ENST00000314191.2	37	c.5634G>T																																																																																					0.333	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		35	70	35	70	---	---	---	---
ASB6	140459	broad.mit.edu	37	9	132401543	132401543	+	Missense_Mutation	SNP	C	C	T	rs372239131		TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr9:132401543C>T	ENST00000277458.4	-	4	614	c.449G>A	c.(448-450)cGc>cAc	p.R150H	ASB6_ENST00000450050.2_Missense_Mutation_p.R71H|ASB6_ENST00000277459.4_Intron|RP11-483H20.4_ENST00000455074.1_RNA	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	150					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				GCAGGGCAGGCGCTCAGGCTC	0.652																																						ENST00000277458.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15						c.(448-450)cGc>cAc		ankyrin repeat and SOCS box containing 6		C	HIS/ARG,HIS/ARG,	0,4406		0,0,2203	66.0	68.0	67.0		449,449,	5.3	1.0	9		67	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,intron	ASB6	NM_001202403.1,NM_017873.3,NM_177999.2	29,29,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,	150/393,150/422,	132401543	1,13005	2203	4300	6503	SO:0001583	missense	140459				intracellular signal transduction	cytoplasm		g.chr9:132401543C>T		CCDS6924.1, CCDS6925.1, CCDS75919.1	9q34.13	2013-01-10	2011-01-25		ENSG00000148331	ENSG00000148331		"""Ankyrin repeat domain containing"""	17181	protein-coding gene	gene with protein product		615051	"""ankyrin repeat and SOCS box-containing 6"""				Standard	NM_017873		Approved		uc004byf.2	Q9NWX5	OTTHUMG00000020787	ENST00000277458.4:c.449G>A	9.37:g.132401543C>T	ENSP00000277458:p.Arg150His		Somatic				ASB6_ENST00000450050.2_Missense_Mutation_p.R71H|ASB6_ENST00000277459.4_Intron	p.R150H	NM_017873.3	NP_060343.1	WXS	Illumina GAIIx	Phase_I	Q9NWX5	ASB6_HUMAN			4	614	-		Ovarian(14;0.00556)	150					Q5SZB7|Q9BV15	Missense_Mutation	SNP	ENST00000277458.4	37	c.449G>A	CCDS6924.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.568431	0.86439	0.0	1.16E-4	ENSG00000148331	ENST00000277458;ENST00000450050	T;T	0.62639	0.01;0.01	5.3	5.3	0.74995	Ankyrin repeat-containing domain (4);	0.049176	0.85682	D	0.000000	T	0.56485	0.1988	N	0.02142	-0.665	0.53005	D	0.999962	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.99;0.99;0.984	T	0.66224	-0.5977	10	0.25751	T	0.34	-41.7797	17.942	0.89028	0.0:1.0:0.0:0.0	.	71;150;150	B4DRC4;A8K9U2;Q9NWX5	.;.;ASB6_HUMAN	H	150;71	ENSP00000277458:R150H;ENSP00000416172:R71H	ENSP00000277458:R150H	R	-	2	0	ASB6	131441364	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.696000	0.68287	2.464000	0.83262	0.561000	0.74099	CGC		0.652	ASB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054594.1	NM_017873		25	69	25	69	---	---	---	---
ATM	472	broad.mit.edu	37	11	108199783	108199783	+	Silent	SNP	T	T	C			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr11:108199783T>C	ENST00000452508.2	+	50	7314	c.7125T>C	c.(7123-7125)agT>agC	p.S2375S	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Silent_p.S2375S			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2375	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	ATGGAGAAAGTAGTGATGAGC	0.323			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(7123-7125)agT>agC	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							67.0	71.0	69.0					11																	108199783		2201	4298	6499	SO:0001819	synonymous_variant	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108199783T>C	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.7125T>C	11.37:g.108199783T>C		TSP Lung(14;0.12)	Somatic				ATM_ENST00000452508.2_Silent_p.S2375S|C11orf65_ENST00000525729.1_Intron	p.S2375S	NM_000051.3	NP_000042	WXS	Illumina GAIIx	Phase_I	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	49	7510	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2375			FAT.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Silent	SNP	ENST00000452508.2	37	c.7125T>C	CCDS31669.1																																																																																				0.323	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		17	27	17	27	---	---	---	---
CUL4A	8451	broad.mit.edu	37	13	113887612	113887612	+	Missense_Mutation	SNP	A	A	C			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr13:113887612A>C	ENST00000375440.4	+	6	718	c.634A>C	c.(634-636)Agc>Cgc	p.S212R	CUL4A_ENST00000375441.3_Missense_Mutation_p.S112R|CUL4A_ENST00000451881.1_Missense_Mutation_p.S112R|CUL4A_ENST00000326335.4_Missense_Mutation_p.S112R	NM_001008895.1	NP_001008895.1	Q13619	CUL4A_HUMAN	cullin 4A	212					cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|regulation of nucleotide-excision repair (GO:2000819)|regulation of protein metabolic process (GO:0051246)|somatic stem cell maintenance (GO:0035019)|viral process (GO:0016032)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			CGTGGACCGGAGCCTGTTGCG	0.542																																						ENST00000451881.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17						c.(334-336)Agc>Cgc		cullin 4A							77.0	70.0	72.0					13																	113887612		2203	4300	6503	SO:0001583	missense	8451				cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr13:113887612A>C	U58090	CCDS9533.1, CCDS41908.1, CCDS73604.1	13q34	2011-05-24			ENSG00000139842	ENSG00000139842			2554	protein-coding gene	gene with protein product		603137				8681378	Standard	NM_001008895		Approved		uc021rmv.1	Q13619	OTTHUMG00000017384	ENST00000375440.4:c.634A>C	13.37:g.113887612A>C	ENSP00000364589:p.Ser212Arg		Somatic				CUL4A_ENST00000375441.3_Missense_Mutation_p.S112R|CUL4A_ENST00000326335.4_Missense_Mutation_p.S112R|CUL4A_ENST00000375440.4_Missense_Mutation_p.S212R	p.S112R	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	WXS	Illumina GAIIx	Phase_I	Q13619	CUL4A_HUMAN	all cancers(43;0.112)		6	583	+	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	212					A2A2W2|O75834|Q589T6|Q5TC62|Q6UP08|Q9UP17	Missense_Mutation	SNP	ENST00000375440.4	37	c.334A>C	CCDS41908.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.592169	0.86953	.	.	ENSG00000139842	ENST00000375441;ENST00000451881;ENST00000326335;ENST00000375440	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	4.5	4.5	0.54988	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.78868	0.4351	M	0.69463	2.115	0.80722	D	1	B;B	0.33022	0.394;0.221	B;B	0.41946	0.371;0.265	T	0.75172	-0.3411	10	0.21014	T	0.42	-30.1722	14.1231	0.65203	1.0:0.0:0.0:0.0	.	212;212	Q13619;A8MSH7	CUL4A_HUMAN;.	R	112;112;112;212	ENSP00000364590:S112R;ENSP00000389118:S112R;ENSP00000322132:S112R;ENSP00000364589:S212R	ENSP00000322132:S112R	S	+	1	0	CUL4A	112935613	1.000000	0.71417	0.922000	0.36590	0.991000	0.79684	9.042000	0.93793	1.781000	0.52344	0.459000	0.35465	AGC		0.542	CUL4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045888.3	NM_003589		13	41	13	41	---	---	---	---
LAIR1	3903	broad.mit.edu	37	19	54872560	54872560	+	Nonsense_Mutation	SNP	C	C	T			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr19:54872560C>T	ENST00000391742.2	-	3	479	c.327G>A	c.(325-327)tgG>tgA	p.W109*	LAIR1_ENST00000313038.6_Nonsense_Mutation_p.W102*|LAIR1_ENST00000434277.2_Nonsense_Mutation_p.W108*|LAIR1_ENST00000391743.3_Nonsense_Mutation_p.W91*|LAIR1_ENST00000463489.1_Intron|LAIR1_ENST00000474878.1_Nonsense_Mutation_p.W108*|LAIR1_ENST00000348231.4_Nonsense_Mutation_p.W109*			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	109	Ig-like C2-type.				immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		TCTGCTCAGACCATTTAGGGG	0.557																																						ENST00000391743.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26						c.(271-273)tgG>tgA		leukocyte-associated immunoglobulin-like receptor 1							131.0	125.0	128.0					19																	54872560		2203	4300	6503	SO:0001587	stop_gained	3903					integral to membrane|plasma membrane	protein binding|receptor activity	g.chr19:54872560C>T	AF013249	CCDS12891.1, CCDS12892.1, CCDS74448.1, CCDS74449.1, CCDS74450.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167613	ENSG00000167613		"""Leukocyte-associated Ig like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6477	protein-coding gene	gene with protein product		602992	"""leukocyte-associated Ig-like receptor 1"""			9285412	Standard	XM_005258924		Approved	CD305	uc002qfk.1	Q6GTX8	OTTHUMG00000065545	ENST00000391742.2:c.327G>A	19.37:g.54872560C>T	ENSP00000375622:p.Trp109*		Somatic				LAIR1_ENST00000434277.2_Nonsense_Mutation_p.W108*|LAIR1_ENST00000391742.2_Nonsense_Mutation_p.W109*|LAIR1_ENST00000313038.6_Nonsense_Mutation_p.W102*|LAIR1_ENST00000463489.1_Intron|LAIR1_ENST00000474878.1_Nonsense_Mutation_p.W108*|LAIR1_ENST00000348231.4_Nonsense_Mutation_p.W109*	p.W91*			WXS	Illumina GAIIx	Phase_I	Q6GTX8	LAIR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0573)	2	553	-	Ovarian(34;0.19)		109			Ig-like C2-type.			Nonsense_Mutation	SNP	ENST00000391742.2	37	c.273G>A	CCDS12891.1	.	.	.	.	.	.	.	.	.	.	.	14.11	2.437406	0.43224	.	.	ENSG00000167613	ENST00000391743;ENST00000391742;ENST00000434277;ENST00000348231;ENST00000313038;ENST00000474878	.	.	.	3.01	0.819	0.18785	.	0.182519	0.27289	N	0.020057	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.4557	0.16590	0.2305:0.5457:0.2238:0.0	.	.	.	.	X	91;109;108;109;102;108	.	ENSP00000319204:W102X	W	-	3	0	LAIR1	59564372	0.642000	0.27260	0.070000	0.20053	0.107000	0.19398	0.274000	0.18680	0.316000	0.23135	0.644000	0.83932	TGG		0.557	LAIR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140506.1			32	95	32	95	---	---	---	---
NLRP9	338321	broad.mit.edu	37	19	56223890	56223890	+	Silent	SNP	C	C	A			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr19:56223890C>A	ENST00000332836.2	-	7	2595	c.2568G>T	c.(2566-2568)ggG>ggT	p.G856G	CTD-2611O12.7_ENST00000597680.1_RNA	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	856						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TCTTCAGTTTCCCATTGCAAA	0.448																																						ENST00000332836.2																			0				NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74						c.(2566-2568)ggG>ggT		NLR family, pyrin domain containing 9							99.0	91.0	94.0					19																	56223890		2200	4293	6493	SO:0001819	synonymous_variant	338321					cytoplasm	ATP binding	g.chr19:56223890C>A	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.2568G>T	19.37:g.56223890C>A			Somatic					p.G856G	NM_176820.2	NP_789790.2	WXS	Illumina GAIIx	Phase_I	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	7	2595	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	856					B2RN12|Q86W27	Silent	SNP	ENST00000332836.2	37	c.2568G>T	CCDS12934.1																																																																																				0.448	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		10	25	10	25	---	---	---	---
DIDO1	11083	broad.mit.edu	37	20	61541166	61541166	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr20:61541166T>C	ENST00000266070.4	-	4	1371	c.1046A>G	c.(1045-1047)gAt>gGt	p.D349G	DIDO1_ENST00000370371.4_Missense_Mutation_p.D349G|DIDO1_ENST00000266071.5_Missense_Mutation_p.D349G|DIDO1_ENST00000395340.1_Missense_Mutation_p.D349G|DIDO1_ENST00000395343.1_Missense_Mutation_p.D349G|DIDO1_ENST00000370366.1_Missense_Mutation_p.D349G|DIDO1_ENST00000370368.1_Missense_Mutation_p.D349G|DIDO1_ENST00000395335.2_Missense_Mutation_p.D349G|DIDO1_ENST00000354665.4_Missense_Mutation_p.D349G	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	349					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					ACTTGTACAATCGGTGCCATC	0.463																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(1045-1047)gAt>gGt		death inducer-obliterator 1							205.0	185.0	192.0					20																	61541166		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61541166T>C	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.1046A>G	20.37:g.61541166T>C	ENSP00000266070:p.Asp349Gly		Somatic				DIDO1_ENST00000370368.1_Missense_Mutation_p.D349G|DIDO1_ENST00000395335.2_Missense_Mutation_p.D349G|DIDO1_ENST00000266071.5_Missense_Mutation_p.D349G|DIDO1_ENST00000354665.4_Missense_Mutation_p.D349G|DIDO1_ENST00000370371.4_Missense_Mutation_p.D349G|DIDO1_ENST00000370366.1_Missense_Mutation_p.D349G|DIDO1_ENST00000395343.1_Missense_Mutation_p.D349G|DIDO1_ENST00000395340.1_Missense_Mutation_p.D349G	p.D349G	NM_033081.2	NP_149072.2	WXS	Illumina GAIIx	Phase_I	Q9BTC0	DIDO1_HUMAN			4	1371	-	Breast(26;5.68e-08)		349					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.1046A>G	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	T	11.19	1.564815	0.27915	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335;ENST00000370371;ENST00000370368;ENST00000354665;ENST00000370366;ENST00000266071	T;T;T;T;T;T;T;T;T	0.19394	2.99;2.99;2.63;2.63;2.15;2.15;2.15;2.15;2.15	5.35	4.22	0.49857	.	0.156070	0.29508	N	0.011958	T	0.19208	0.0461	L	0.57536	1.79	0.09310	N	0.999998	P;B;P;P	0.43826	0.818;0.452;0.573;0.666	B;B;B;B	0.36567	0.228;0.164;0.202;0.162	T	0.09952	-1.0651	10	0.29301	T	0.29	-20.1485	11.2771	0.49174	0.0:0.0:0.1529:0.8471	.	349;349;349;349	Q9BTC0-2;Q9BTC0-3;Q9BTC0-1;Q9BTC0	.;.;.;DIDO1_HUMAN	G	349	ENSP00000266070:D349G;ENSP00000378752:D349G;ENSP00000378749:D349G;ENSP00000378744:D349G;ENSP00000359397:D349G;ENSP00000359394:D349G;ENSP00000346692:D349G;ENSP00000359391:D349G;ENSP00000266071:D349G	ENSP00000266070:D349G	D	-	2	0	DIDO1	61011611	0.981000	0.34729	0.168000	0.22838	0.022000	0.10575	3.455000	0.52993	0.939000	0.37446	0.454000	0.30748	GAT		0.463	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		30	68	30	68	---	---	---	---
ALAS2	212	broad.mit.edu	37	X	55039950	55039950	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chrX:55039950G>T	ENST00000330807.5	-	10	1706	c.1569C>A	c.(1567-1569)caC>caA	p.H523Q	ALAS2_ENST00000396198.3_Missense_Mutation_p.H510Q|ALAS2_ENST00000335854.4_Missense_Mutation_p.H486Q|ALAS2_ENST00000498636.1_Intron	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	523					cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	GAGGGCTGTGGTGGGGGGAGG	0.572																																						ENST00000330807.5																			0				central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						c.(1567-1569)caC>caA		aminolevulinate, delta-, synthase 2	Glycine(DB00145)						57.0	48.0	51.0					X																	55039950		2203	4300	6503	SO:0001583	missense	212				cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chrX:55039950G>T		CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"""sideroblastic/hypochromic anemia"""	301300	"""aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"""	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.1569C>A	X.37:g.55039950G>T	ENSP00000332369:p.His523Gln		Somatic				ALAS2_ENST00000498636.1_Intron|ALAS2_ENST00000396198.3_Missense_Mutation_p.H510Q|ALAS2_ENST00000335854.4_Missense_Mutation_p.H486Q	p.H523Q	NM_000032.4	NP_000023.2	WXS	Illumina GAIIx	Phase_I	P22557	HEM0_HUMAN			10	1706	-			523					A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Missense_Mutation	SNP	ENST00000330807.5	37	c.1569C>A	CCDS14366.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.880685	0.51801	.	.	ENSG00000158578	ENST00000330807;ENST00000396198;ENST00000335854	D;D;D	0.90324	-2.65;-2.65;-2.65	5.39	3.62	0.41486	Aminotransferase, class I/classII (1);Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.096119	0.64402	D	0.000001	D	0.92322	0.7564	L	0.55834	1.745	0.50039	D	0.999843	D;D;D	0.63880	0.958;0.992;0.993	D;D;D	0.69142	0.913;0.949;0.962	D	0.89226	0.3574	10	0.29301	T	0.29	-23.0971	10.4925	0.44758	0.1666:0.0:0.8334:0.0	.	486;510;523	A8K6C4;Q5JZF5;P22557	.;.;HEM0_HUMAN	Q	523;510;486	ENSP00000332369:H523Q;ENSP00000379501:H510Q;ENSP00000337131:H486Q	ENSP00000332369:H523Q	H	-	3	2	ALAS2	55056675	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.984000	0.49353	0.581000	0.29539	0.538000	0.68166	CAC		0.572	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056843.3	NM_000032		12	7	12	7	---	---	---	---
CYP2J2	1573	broad.mit.edu	37	1	60377936	60377936	+	Frame_Shift_Del	DEL	T	T	-			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr1:60377936delT	ENST00000371204.3	-	3	464	c.421delA	c.(421-423)actfs	p.T141fs	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	141					arachidonic acid metabolic process (GO:0019369)|epoxygenase P450 pathway (GO:0019373)|icosanoid metabolic process (GO:0006690)|linoleic acid metabolic process (GO:0043651)|regulation of heart contraction (GO:0008016)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	arachidonic acid 11,12-epoxygenase activity (GO:0008405)|arachidonic acid 14,15-epoxygenase activity (GO:0008404)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|linoleic acid epoxygenase activity (GO:0071614)			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)				Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228)	GCTGTCAGAGTGAACCTTCTT	0.418																																						ENST00000371204.3																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26						c.(421-423)actfs		cytochrome P450, family 2, subfamily J, polypeptide 2							200.0	169.0	179.0					1																	60377936		2203	4300	6503	SO:0001589	frameshift_variant	1573				epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity	g.chr1:60377936delT	BC032594	CCDS613.1	1p31.3-p31.2	2008-02-05	2003-01-14		ENSG00000134716	ENSG00000134716		"""Cytochrome P450s"""	2634	protein-coding gene	gene with protein product		601258	"""cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2"""			9570962	Standard	NM_000775		Approved		uc001czq.3	P51589	OTTHUMG00000008991	ENST00000371204.3:c.421delA	1.37:g.60377936delT	ENSP00000360247:p.Thr141fs		Somatic				CYP2J2_ENST00000492633.1_5'UTR	p.T141fs	NM_000775.2	NP_000766.2	WXS	Illumina GAIIx	Phase_I	P51589	CP2J2_HUMAN			3	464	-	all_cancers(7;0.000396)		141					B2RD33|Q8TF13	Frame_Shift_Del	DEL	ENST00000371204.3	37	c.421delA	CCDS613.1																																																																																				0.418	CYP2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024940.1	NM_000775		9	124	9	124	---	---	---	---
