#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
DNM1P47	100216544	broad.mit.edu	37	15	102292785	102292785	+	RNA	SNP	C	C	G	rs61084368|rs143389223	byFrequency	TCGA-ET-A39J-01A-11D-A19J-08	TCGA-ET-A39J-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d62899a1-d79f-4e88-b8d9-87a175bf7e67	32d1eddb-59f0-4a17-affb-eec3b4f2a652	g.chr15:102292785C>G	ENST00000561463.1	+	0	831									DNM1 pseudogene 47									p.Q125E(1)									TGCTGCTTCTCAGAGCTGCTG	0.602																																						ENST00000561463.1																			1	Substitution - Missense(1)	p.Q125E(1)	kidney(1)																																																0							g.chr15:102292785C>G	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292785C>G														0	831	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.602	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		4	23	0	0	0	0.000248	0	4	23				
SPTA1	6708	broad.mit.edu	37	1	158583510	158583510	+	Splice_Site	SNP	C	C	T			TCGA-ET-A39J-01A-11D-A19J-08	TCGA-ET-A39J-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d62899a1-d79f-4e88-b8d9-87a175bf7e67	32d1eddb-59f0-4a17-affb-eec3b4f2a652	g.chr1:158583510C>T	ENST00000368147.4	-	50	7170		c.e50+1		SPTA1_ENST00000485680.1_5'Flank	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1						actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTTGTTCCTACCTCCCTGGAT	0.493																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.e50+1		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							67.0	66.0	66.0					1																	158583510		1942	4135	6077	SO:0001630	splice_region_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158583510C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6989+1G>A	1.37:g.158583510C>T						SPTA1_ENST00000368147.3_Splice_Site		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			50	7170	-	all_hematologic(112;0.0378)							Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Splice_Site	SNP	ENST00000368147.4	37		CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.965407	0.53507	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2641	0.87081	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SPTA1	156850134	1.000000	0.71417	1.000000	0.80357	0.447000	0.32167	6.900000	0.75687	2.661000	0.90470	0.650000	0.86243	.		0.493	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	Intron	27	43	0	0	0	0.008361	0	27	43				
PHLDB1	23187	broad.mit.edu	37	11	118498713	118498713	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ET-A39J-01A-11D-A19J-08	TCGA-ET-A39J-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d62899a1-d79f-4e88-b8d9-87a175bf7e67	32d1eddb-59f0-4a17-affb-eec3b4f2a652	g.chr11:118498713C>T	ENST00000361417.2	+	7	1585	c.1174C>T	c.(1174-1176)Cga>Tga	p.R392*	PHLDB1_ENST00000356063.5_Nonsense_Mutation_p.R392*	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	392										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CCCTGCTCCCCGAAACAAGAT	0.612																																						ENST00000361417.2																			0				breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46						c.(1174-1176)Cga>Tga		pleckstrin homology-like domain, family B, member 1							95.0	93.0	94.0					11																	118498713		2200	4295	6495	SO:0001587	stop_gained	23187							g.chr11:118498713C>T		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.1174C>T	11.37:g.118498713C>T	ENSP00000354498:p.Arg392*					PHLDB1_ENST00000356063.5_Nonsense_Mutation_p.R392*	p.R392*	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	7	1585	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	392					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Nonsense_Mutation	SNP	ENST00000361417.2	37	c.1174C>T	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	C	40	7.999809	0.98602	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000356063	.	.	.	5.32	5.32	0.75619	.	0.298102	0.31797	N	0.007045	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.5117	13.6152	0.62103	0.0:0.8442:0.1558:0.0	.	.	.	.	X	392;151;392	.	ENSP00000348359:R392X	R	+	1	2	PHLDB1	118003923	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	1.898000	0.39809	2.769000	0.95229	0.563000	0.77884	CGA		0.612	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		7	114	0	0	0	0.001984	0	7	114				
IL1R1	3554	broad.mit.edu	37	2	102792036	102792036	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A39J-01A-11D-A19J-08	TCGA-ET-A39J-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d62899a1-d79f-4e88-b8d9-87a175bf7e67	32d1eddb-59f0-4a17-affb-eec3b4f2a652	g.chr2:102792036C>T	ENST00000410023.1	+	11	1552	c.1234C>T	c.(1234-1236)Cct>Tct	p.P412S	AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000409929.1_Missense_Mutation_p.P381S|IL1R1_ENST00000233946.3_Missense_Mutation_p.P412S|IL1R1_ENST00000409288.1_Missense_Mutation_p.P412S|IL1R1_ENST00000409329.1_Missense_Mutation_p.P412S|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000424272.1_Missense_Mutation_p.P412S			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	412	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|interleukin-1-mediated signaling pathway (GO:0070498)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)|platelet-derived growth factor receptor binding (GO:0005161)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	TAAAGTCTTGCCTGAGGTCTT	0.413																																						ENST00000410023.1																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19						c.(1234-1236)Cct>Tct		interleukin 1 receptor, type I	Anakinra(DB00026)						364.0	331.0	342.0					2																	102792036		2203	4300	6503	SO:0001583	missense	3554				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding	g.chr2:102792036C>T	M27492	CCDS2055.1, CCDS74547.1	2q12	2013-01-29			ENSG00000115594	ENSG00000115594		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5993	protein-coding gene	gene with protein product		147810		IL1R, IL1RA		1833184, 10191101	Standard	XM_005263929		Approved	D2S1473, CD121A	uc002tbr.3	P14778	OTTHUMG00000130783	ENST00000410023.1:c.1234C>T	2.37:g.102792036C>T	ENSP00000386380:p.Pro412Ser					IL1R1_ENST00000233946.3_Missense_Mutation_p.P412S|IL1R1_ENST00000424272.1_Missense_Mutation_p.P412S|IL1R1_ENST00000409288.1_Missense_Mutation_p.P412S|AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000409929.1_Missense_Mutation_p.P381S|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000409329.1_Missense_Mutation_p.P412S	p.P412S			P14778	IL1R1_HUMAN			11	1552	+			412			TIR.		Q587I7	Missense_Mutation	SNP	ENST00000410023.1	37	c.1234C>T	CCDS2055.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.501176	0.85176	.	.	ENSG00000115594	ENST00000409929;ENST00000424272;ENST00000409329;ENST00000428279;ENST00000409288;ENST00000410023;ENST00000233946	T;T;T;T;T;T;T	0.08546	3.08;3.08;3.08;3.08;3.08;3.08;3.08	5.24	5.24	0.73138	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.051428	0.85682	D	0.000000	T	0.37865	0.1019	M	0.89287	3.02	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.41251	-0.9519	10	0.87932	D	0	.	19.1943	0.93681	0.0:1.0:0.0:0.0	.	381;412;412	B8ZZW4;P14778;B8ZZ73	.;IL1R1_HUMAN;.	S	381;412;412;268;412;412;412	ENSP00000386776:P381S;ENSP00000415366:P412S;ENSP00000387131:P412S;ENSP00000410461:P268S;ENSP00000386478:P412S;ENSP00000386380:P412S;ENSP00000233946:P412S	ENSP00000233946:P412S	P	+	1	0	IL1R1	102158468	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.608000	0.67654	2.607000	0.88179	0.563000	0.77884	CCT		0.413	IL1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253299.1			116	193	0	0	0	0.003610	0	116	193				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A39J-01A-11D-A19J-08	TCGA-ET-A39J-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d62899a1-d79f-4e88-b8d9-87a175bf7e67	32d1eddb-59f0-4a17-affb-eec3b4f2a652	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		39	43	0	0	0	0.006230	0	39	43				
ACOT2	10965	broad.mit.edu	37	14	74036497	74036497	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A39J-01A-11D-A19J-08	TCGA-ET-A39J-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d62899a1-d79f-4e88-b8d9-87a175bf7e67	32d1eddb-59f0-4a17-affb-eec3b4f2a652	g.chr14:74036497A>G	ENST00000238651.5	+	1	735	c.553A>G	c.(553-555)Acg>Gcg	p.T185A	ACOT2_ENST00000538782.1_Intron	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	185					acyl-CoA metabolic process (GO:0006637)|long-chain fatty acid metabolic process (GO:0001676)|very long-chain fatty acid metabolic process (GO:0000038)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)	p.T185A(1)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		GCTGTGCCAGACGCGGCACGA	0.736																																						ENST00000238651.5																			1	Substitution - Missense(1)	p.T185A(1)	lung(1)	breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13						c.(553-555)Acg>Gcg		acyl-CoA thioesterase 2							8.0	8.0	8.0					14																	74036497		1966	3905	5871	SO:0001583	missense	10965				acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	mitochondrion	carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding	g.chr14:74036497A>G	AY005822, AK001939	CCDS9816.1	14q24.3	2013-09-20			ENSG00000119673	ENSG00000119673		"""Acyl CoA thioesterases"""	18431	protein-coding gene	gene with protein product	"""mitochondrial acyl-CoA thioesterase 1"""	609972				16103133, 16940157	Standard	NM_006821		Approved	Mte1, ZAP128	uc001xon.5	P49753	OTTHUMG00000171608	ENST00000238651.5:c.553A>G	14.37:g.74036497A>G	ENSP00000238651:p.Thr185Ala					ACOT2_ENST00000538782.1_Intron	p.T185A	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)	1	735	+			185					Q3I5F8|Q53EK4|Q9NUX4	Missense_Mutation	SNP	ENST00000238651.5	37	c.553A>G	CCDS9816.1	.	.	.	.	.	.	.	.	.	.	a	0.005	-2.126007	0.00342	.	.	ENSG00000119673	ENST00000238651	T	0.69040	-0.37	3.38	0.388	0.16264	Acyl-CoA thioester hydrolase/bile acid-CoA amino acid N-acetyltransferase (1);	0.564702	0.18389	N	0.142713	T	0.27765	0.0683	N	0.01081	-1.03	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34104	-0.9842	10	0.02654	T	1	-2.5748	8.7631	0.34687	0.3703:0.0:0.6297:0.0	.	185	P49753	ACOT2_HUMAN	A	185	ENSP00000238651:T185A	ENSP00000238651:T185A	T	+	1	0	ACOT2	73106250	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.502000	0.22594	-0.539000	0.06273	-1.945000	0.00491	ACG		0.736	ACOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414435.1	NM_006821		3	9	0	0	0	0.000248	0	3	9				
PDXDC2P	283970	broad.mit.edu	37	16	70029993	70029993	+	RNA	SNP	G	G	A			TCGA-ET-A39J-01A-11D-A19J-08	TCGA-ET-A39J-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d62899a1-d79f-4e88-b8d9-87a175bf7e67	32d1eddb-59f0-4a17-affb-eec3b4f2a652	g.chr16:70029993G>A	ENST00000531894.1	-	0	1783					NR_003610.1		Q6P474	PDXD2_HUMAN	pyridoxal-dependent decarboxylase domain containing 2, pseudogene						carboxylic acid metabolic process (GO:0019752)		carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)										ACTCGCATGGGCATGTCACTG	0.582																																						ENST00000532298.1																			0				breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1)	13						c.(97-99)tgC>tgT																																								0							g.chr16:70029993G>A			16q22.1	2014-03-20	2010-09-02	2010-09-02	ENSG00000196696	ENSG00000196696			27559	pseudogene	pseudogene			"""pyridoxal-dependent decarboxylase domain containing 2"""	PDXDC2			Standard	NR_003610		Approved	DKFZp761H1120	uc010vlq.1	Q6P474	OTTHUMG00000167595		16.37:g.70029993G>A						PDXDC2P_ENST00000531894.1_RNA|RP11-419C5.2_ENST00000325845.7_5'UTR	p.C33C							1	98	-								A8K9Z5	Silent	SNP	ENST00000531894.1	37	c.99C>T																																																																																					0.582	PDXDC2P-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000395258.1			7	8	0	0	0	0.001984	0	7	8				
CALHM2	51063	broad.mit.edu	37	10	105209325	105209325	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A39J-01A-11D-A19J-08	TCGA-ET-A39J-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d62899a1-d79f-4e88-b8d9-87a175bf7e67	32d1eddb-59f0-4a17-affb-eec3b4f2a652	g.chr10:105209325C>G	ENST00000260743.5	-	3	897	c.374G>C	c.(373-375)gGt>gCt	p.G125A	RP11-225H22.7_ENST00000608063.1_RNA|CALHM2_ENST00000369788.3_Missense_Mutation_p.G125A|CALHM2_ENST00000393235.1_Missense_Mutation_p.G125A|CALHM2_ENST00000494180.1_5'Flank	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	125					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						ATAAGCCTCACCACGCAGCAG	0.612																																						ENST00000393235.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						c.(373-375)gGt>gCt		calcium homeostasis modulator 2							92.0	77.0	82.0					10																	105209325		2203	4300	6503	SO:0001583	missense	51063					integral to membrane		g.chr10:105209325C>G	BC000039	CCDS7549.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000138172	ENSG00000138172			23493	protein-coding gene	gene with protein product		612235	"""family with sequence similarity 26, member B"""	FAM26B		18585350	Standard	NM_015916		Approved		uc001kxa.3	Q9HA72	OTTHUMG00000018990	ENST00000260743.5:c.374G>C	10.37:g.105209325C>G	ENSP00000260743:p.Gly125Ala					CALHM2_ENST00000369788.3_Missense_Mutation_p.G125A|CALHM2_ENST00000260743.5_Missense_Mutation_p.G125A	p.G125A			Q9HA72	CAHM2_HUMAN			3	1571	-			125					D3DR94|O95893|Q6ZUV9	Missense_Mutation	SNP	ENST00000260743.5	37	c.374G>C	CCDS7549.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.835497	0.91117	.	.	ENSG00000138172	ENST00000369788;ENST00000260743;ENST00000393235	T;T;T	0.34072	1.38;1.38;1.38	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.63141	0.2486	M	0.77103	2.36	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.91635	0.999;0.999;0.986	T	0.63404	-0.6645	10	0.42905	T	0.14	-34.8506	18.9703	0.92712	0.0:1.0:0.0:0.0	.	125;125;125	Q9HA72-2;Q9HA72-3;Q9HA72	.;.;CAHM2_HUMAN	A	125	ENSP00000358803:G125A;ENSP00000260743:G125A;ENSP00000376927:G125A	ENSP00000260743:G125A	G	-	2	0	CALHM2	105199315	1.000000	0.71417	0.462000	0.27118	0.996000	0.88848	6.994000	0.76251	2.474000	0.83562	0.561000	0.74099	GGT		0.612	CALHM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050159.1	NM_015916		23	43	0	0	0	0.002780	0	23	43				
HAUS3	79441	broad.mit.edu	37	4	2241959	2241959	+	Missense_Mutation	SNP	G	G	C			TCGA-ET-A39J-01A-11D-A19J-08	TCGA-ET-A39J-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d62899a1-d79f-4e88-b8d9-87a175bf7e67	32d1eddb-59f0-4a17-affb-eec3b4f2a652	g.chr4:2241959G>C	ENST00000243706.4	-	2	944	c.715C>G	c.(715-717)Caa>Gaa	p.Q239E	HAUS3_ENST00000443786.2_Missense_Mutation_p.Q239E|HAUS3_ENST00000506763.1_Missense_Mutation_p.Q239E|POLN_ENST00000511885.2_Intron|POLN_ENST00000515357.1_Intron	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	239					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TCTAAAAGTTGAAAATTGTCT	0.373																																						ENST00000243706.4																			0				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(715-717)Caa>Gaa		HAUS augmin-like complex, subunit 3							61.0	61.0	61.0					4																	2241959		2203	4298	6501	SO:0001583	missense	79441				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr4:2241959G>C	AF040964	CCDS33941.1	4p16.3	2013-10-11	2009-04-20	2009-04-20	ENSG00000214367	ENSG00000214367		"""HAUS augmin-like complex subunits"""	28719	protein-coding gene	gene with protein product		613430	"""chromosome 4 open reading frame 15"""	C4orf15		19427217, 19812674	Standard	NM_024511		Approved	MGC4701, IT1, dgt3	uc003ges.1	Q68CZ6		ENST00000243706.4:c.715C>G	4.37:g.2241959G>C	ENSP00000243706:p.Gln239Glu					POLN_ENST00000515357.1_Intron|POLN_ENST00000511885.2_Intron|HAUS3_ENST00000506763.1_Missense_Mutation_p.Q239E|HAUS3_ENST00000443786.2_Missense_Mutation_p.Q239E	p.Q239E	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN			2	944	-			239					B4DF64|O43606|Q8TAZ5|Q9BTJ9	Missense_Mutation	SNP	ENST00000243706.4	37	c.715C>G	CCDS33941.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.630464	0.46944	.	.	ENSG00000214367	ENST00000506763;ENST00000243706;ENST00000443786	T;T	0.42900	0.96;0.96	5.29	5.29	0.74685	.	0.073993	0.56097	U	0.000033	T	0.43344	0.1243	L	0.56396	1.775	0.48395	D	0.99964	P;P	0.42078	0.77;0.77	B;B	0.41691	0.364;0.237	T	0.30679	-0.9970	10	0.33940	T	0.23	-21.1387	15.4864	0.75571	0.0:0.1386:0.8614:0.0	.	239;239	B4DF64;Q68CZ6	.;HAUS3_HUMAN	E	239	ENSP00000243706:Q239E;ENSP00000392903:Q239E	ENSP00000243706:Q239E	Q	-	1	0	HAUS3	2211757	1.000000	0.71417	0.998000	0.56505	0.924000	0.55760	6.260000	0.72502	2.612000	0.88384	0.655000	0.94253	CAA		0.373	HAUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357446.1	NM_024511		12	25	0	0	0	0.000978	0	12	25				
SLC26A6	65010	broad.mit.edu	37	3	48668079	48668079	+	Silent	SNP	A	A	G			TCGA-ET-A39J-01A-11D-A19J-08	TCGA-ET-A39J-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d62899a1-d79f-4e88-b8d9-87a175bf7e67	32d1eddb-59f0-4a17-affb-eec3b4f2a652	g.chr3:48668079A>G	ENST00000395550.2	-	10	1256	c.1209T>C	c.(1207-1209)tcT>tcC	p.S403S	SLC26A6_ENST00000455886.2_Silent_p.S367S|SLC26A6_ENST00000383733.3_Silent_p.S403S|SLC26A6_ENST00000358747.6_Silent_p.S382S|SLC26A6_ENST00000337000.8_Silent_p.S296S|SLC26A6_ENST00000482282.1_5'Flank|SLC26A6_ENST00000420764.2_Silent_p.S403S			Q9BXS9	S26A6_HUMAN	solute carrier family 26 (anion exchanger), member 6	403					angiotensin-activated signaling pathway (GO:0038166)|anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular response to cAMP (GO:0071320)|cellular response to fructose stimulus (GO:0071332)|cellular response to interferon-gamma (GO:0071346)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|epithelial fluid transport (GO:0042045)|formate transport (GO:0015724)|intestinal absorption (GO:0050892)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|mannitol transport (GO:0015797)|oxalate transport (GO:0019532)|oxalic acid secretion (GO:0046724)|positive regulation of dipeptide transmembrane transport (GO:2001150)|protein kinase C signaling (GO:0070528)|regulation of intracellular pH (GO:0051453)|sperm capacitation (GO:0048240)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transepithelial chloride transport (GO:0030321)|transepithelial transport (GO:0070633)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|chloride channel complex (GO:0034707)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle membrane (GO:0012506)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|chloride transmembrane transporter activity (GO:0015108)|efflux transmembrane transporter activity (GO:0015562)|formate efflux transmembrane transporter activity (GO:0015660)|formate transmembrane transporter activity (GO:0015499)|formate uptake transmembrane transporter activity (GO:0015659)|oxalate transmembrane transporter activity (GO:0019531)|PDZ domain binding (GO:0030165)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)		SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		CCAGGCTCCGAGACATAGAGC	0.617																																					NSCLC(13;369 479 28271 30152 44026)	ENST00000358747.6																		SLC26A6/PRKAR2A(2)	0				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19						c.(1144-1146)tcT>tcC		solute carrier family 26 (anion exchanger), member 6							38.0	43.0	42.0					3																	48668079		1997	4166	6163	SO:0001819	synonymous_variant	65010							g.chr3:48668079A>G	AF279265	CCDS43087.1, CCDS46824.1, CCDS46825.1, CCDS46826.1, CCDS63627.1, CCDS63628.1	3p21.31	2013-08-05	2013-07-18		ENSG00000225697	ENSG00000225697		"""Solute carriers"""	14472	protein-coding gene	gene with protein product	"""pendrin-like protein 1"", ""pendrin L1"", ""sulfate anion transporter"", ""anion transporter 1"""	610068	"""solute carrier family 26, member 6"""			11087667, 11247665	Standard	NM_022911		Approved	DKFZp586E1422		Q9BXS9	OTTHUMG00000186381	ENST00000395550.2:c.1209T>C	3.37:g.48668079A>G						SLC26A6_ENST00000395550.2_Silent_p.S403S|SLC26A6_ENST00000383733.3_Silent_p.S403S|SLC26A6_ENST00000420764.2_Silent_p.S403S|SLC26A6_ENST00000455886.2_Silent_p.S367S|SLC26A6_ENST00000337000.8_Silent_p.S296S	p.S382S	NM_001040454.1	NP_001035544.1				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)	9	1396	-								B4DMZ1|Q548A7|Q96Q90|Q9NQU1	Silent	SNP	ENST00000395550.2	37	c.1146T>C	CCDS43087.1																																																																																				0.617	SLC26A6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345040.1	NM_022911		2	2	0	0	0	0.004672	0	2	2				
ACOT2	10965	broad.mit.edu	37	14	74036498	74036498	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A39J-01A-11D-A19J-08	TCGA-ET-A39J-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d62899a1-d79f-4e88-b8d9-87a175bf7e67	32d1eddb-59f0-4a17-affb-eec3b4f2a652	g.chr14:74036498C>T	ENST00000238651.5	+	1	736	c.554C>T	c.(553-555)aCg>aTg	p.T185M	ACOT2_ENST00000538782.1_Intron	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	185					acyl-CoA metabolic process (GO:0006637)|long-chain fatty acid metabolic process (GO:0001676)|very long-chain fatty acid metabolic process (GO:0000038)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		CTGTGCCAGACGCGGCACGAG	0.736																																						ENST00000238651.5																			0				breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13						c.(553-555)aCg>aTg		acyl-CoA thioesterase 2							8.0	8.0	8.0					14																	74036498		1964	3898	5862	SO:0001583	missense	10965				acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	mitochondrion	carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding	g.chr14:74036498C>T	AY005822, AK001939	CCDS9816.1	14q24.3	2013-09-20			ENSG00000119673	ENSG00000119673		"""Acyl CoA thioesterases"""	18431	protein-coding gene	gene with protein product	"""mitochondrial acyl-CoA thioesterase 1"""	609972				16103133, 16940157	Standard	NM_006821		Approved	Mte1, ZAP128	uc001xon.5	P49753	OTTHUMG00000171608	ENST00000238651.5:c.554C>T	14.37:g.74036498C>T	ENSP00000238651:p.Thr185Met					ACOT2_ENST00000538782.1_Intron	p.T185M	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)	1	736	+			185					Q3I5F8|Q53EK4|Q9NUX4	Missense_Mutation	SNP	ENST00000238651.5	37	c.554C>T	CCDS9816.1	.	.	.	.	.	.	.	.	.	.	c	7.075	0.568989	0.13560	.	.	ENSG00000119673	ENST00000238651	T	0.70869	-0.52	3.38	1.44	0.22558	Acyl-CoA thioester hydrolase/bile acid-CoA amino acid N-acetyltransferase (1);	0.564702	0.18389	N	0.142713	T	0.67116	0.2859	M	0.61703	1.905	0.09310	N	1	P	0.40619	0.724	B	0.42062	0.374	T	0.60449	-0.7261	10	0.62326	D	0.03	-2.5748	9.7895	0.40697	0.0:0.8124:0.0:0.1876	.	185	P49753	ACOT2_HUMAN	M	185	ENSP00000238651:T185M	ENSP00000238651:T185M	T	+	2	0	ACOT2	73106251	0.000000	0.05858	0.012000	0.15200	0.002000	0.02628	0.072000	0.14617	0.533000	0.28675	-0.642000	0.03964	ACG		0.736	ACOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414435.1	NM_006821		3	9	0	0	0	0.000248	0	3	9				
FUT4	2526	broad.mit.edu	37	11	94278321	94278321	+	Missense_Mutation	SNP	A	A	C			TCGA-ET-A39J-01A-11D-A19J-08	TCGA-ET-A39J-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d62899a1-d79f-4e88-b8d9-87a175bf7e67	32d1eddb-59f0-4a17-affb-eec3b4f2a652	g.chr11:94278321A>C	ENST00000358752.2	+	1	1305	c.1022A>C	c.(1021-1023)gAc>gCc	p.D341A	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_002033.3	NP_002024.1	P22083	FUT4_HUMAN	fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)	341					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	cell periphery (GO:0071944)|cell surface (GO:0009986)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CACCCCGGCGACCCGCCCTCA	0.662																																						ENST00000358752.2																			0				central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(1021-1023)gAc>gCc		fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)							12.0	14.0	13.0					11																	94278321		2189	4276	6465	SO:0001583	missense	2526				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	alpha(1,3)-fucosyltransferase activity	g.chr11:94278321A>C		CCDS8301.1	11q21	2013-02-26			ENSG00000196371	ENSG00000196371		"""CD molecules"", ""Fucosyltransferases"""	4015	protein-coding gene	gene with protein product	"""ELAM ligand fucosyltransferase"", ""galactoside 3-L-fucosyltransferase"""	104230		CD15, FCT3A, ELFT		1702034	Standard	NM_002033		Approved	FUC-TIV	uc001pez.3	P22083	OTTHUMG00000167795	ENST00000358752.2:c.1022A>C	11.37:g.94278321A>C	ENSP00000351602:p.Asp341Ala						p.D341A	NM_002033.3	NP_002024.1	P22083	FUT4_HUMAN			1	1305	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	341					B2RMS0	Missense_Mutation	SNP	ENST00000358752.2	37	c.1022A>C	CCDS8301.1	.	.	.	.	.	.	.	.	.	.	a	8.359	0.832612	0.16820	.	.	ENSG00000196371	ENST00000358752	T	0.23147	1.92	4.74	4.74	0.60224	.	0.630507	0.14495	U	0.316129	T	0.20820	0.0501	L	0.31664	0.95	0.09310	N	1	B	0.19706	0.038	B	0.21708	0.036	T	0.12811	-1.0533	10	0.34782	T	0.22	.	12.4686	0.55773	1.0:0.0:0.0:0.0	.	341	P22083	FUT4_HUMAN	A	341	ENSP00000351602:D341A	ENSP00000351602:D341A	D	+	2	0	FUT4	93917969	0.003000	0.15002	0.034000	0.17996	0.211000	0.24417	0.682000	0.25335	1.884000	0.54569	0.454000	0.30748	GAC		0.662	FUT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396327.2	NM_002033		4	11	0	0	0	0.001984	0	4	11				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-ET-A39J-01A-11D-A19J-08	TCGA-ET-A39J-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d62899a1-d79f-4e88-b8d9-87a175bf7e67	32d1eddb-59f0-4a17-affb-eec3b4f2a652	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR	p.K152E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		4	72	0	0	0	0.001168	0	4	72				
DYNLL1	8655	broad.mit.edu	37	12	120934286	120934286	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A39J-01A-11D-A19J-08	TCGA-ET-A39J-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d62899a1-d79f-4e88-b8d9-87a175bf7e67	32d1eddb-59f0-4a17-affb-eec3b4f2a652	g.chr12:120934286C>T	ENST00000392509.2	+	2	323	c.62C>T	c.(61-63)tCg>tTg	p.S21L	DYNLL1_ENST00000548214.1_Missense_Mutation_p.S21L|DYNLL1-AS1_ENST00000500741.2_RNA|DYNLL1_ENST00000548342.1_Missense_Mutation_p.S21L|DYNLL1_ENST00000242577.6_Missense_Mutation_p.S21L|DYNLL1_ENST00000552870.1_Missense_Mutation_p.S21L|DYNLL1_ENST00000550178.1_Missense_Mutation_p.S21L|DYNLL1_ENST00000392508.2_Missense_Mutation_p.S21L|DYNLL1_ENST00000550845.1_Missense_Mutation_p.S21L|DYNLL1_ENST00000549989.1_Missense_Mutation_p.S21L	NM_001037494.1	NP_001032583.1	P63167	DYL1_HUMAN	dynein, light chain, LC8-type 1	21					actin cytoskeleton organization (GO:0030036)|anatomical structure morphogenesis (GO:0009653)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic process (GO:0006915)|female gamete generation (GO:0007292)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	motor activity (GO:0003774)|nitric-oxide synthase regulator activity (GO:0030235)					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAACAGGACTCGGTGGAGTGC	0.557																																						ENST00000550845.1																			0											c.(61-63)tCg>tTg		dynein, light chain, LC8-type 1							112.0	109.0	110.0					12																	120934286		2203	4300	6503	SO:0001583	missense	8655				actin cytoskeleton organization|activation of pro-apoptotic gene products|anatomical structure morphogenesis|female gamete generation|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|microtubule-based process|negative regulation of phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	centrosome|cytoplasmic dynein complex|cytosol|microtubule|mitochondrion|nucleus|plasma membrane	motor activity|protein binding	g.chr12:120934286C>T	U32944	CCDS9200.1	12q24.23	2013-05-30	2005-11-25	2005-11-25	ENSG00000088986	ENSG00000088986		"""Cytoplasmic dyneins"""	15476	protein-coding gene	gene with protein product		601562	"""dynein, cytoplasmic, light polypeptide 1"""	DNCL1		8628263, 8864115, 16260502	Standard	NM_001037494		Approved	hdlc1, DLC1, PIN, LC8, DLC8	uc001tym.3	P63167	OTTHUMG00000169368	ENST00000392509.2:c.62C>T	12.37:g.120934286C>T	ENSP00000376297:p.Ser21Leu					DYNLL1_ENST00000548214.1_Missense_Mutation_p.S21L|DYNLL1_ENST00000242577.6_Missense_Mutation_p.S21L|DYNLL1_ENST00000552870.1_Missense_Mutation_p.S21L|DYNLL1_ENST00000550178.1_Missense_Mutation_p.S21L|DYNLL1_ENST00000549989.1_Missense_Mutation_p.S21L|DYNLL1_ENST00000392508.2_Missense_Mutation_p.S21L|DYNLL1_ENST00000392509.2_Missense_Mutation_p.S21L|DYNLL1_ENST00000548342.1_Missense_Mutation_p.S21L	p.S21L			P63167	DYL1_HUMAN			2	186	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		21					Q15701	Missense_Mutation	SNP	ENST00000392509.2	37	c.62C>T	CCDS9200.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562635	0.86335	.	.	ENSG00000088986	ENST00000392509;ENST00000549649;ENST00000548342;ENST00000242577;ENST00000548214;ENST00000392508;ENST00000550178;ENST00000550845;ENST00000549989;ENST00000552870	.	.	.	5.4	5.4	0.78164	.	0.054542	0.64402	D	0.000001	T	0.59046	0.2165	.	.	.	0.47094	D	0.999317	B	0.02656	0.0	B	0.10450	0.005	T	0.55231	-0.8173	8	0.56958	D	0.05	.	19.6014	0.95563	0.0:1.0:0.0:0.0	.	21	P63167	DYL1_HUMAN	L	21	.	ENSP00000242577:S21L	S	+	2	0	DYNLL1	119418669	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.362000	0.79507	2.713000	0.92767	0.549000	0.68633	TCG		0.557	DYNLL1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403709.1	NM_003746		33	67	0	0	0	0.002836	0	33	67				
PADI6	353238	broad.mit.edu	37	1	17721722	17721723	+	RNA	DEL	GA	GA	-	rs147310450|rs141096512|rs58784721	byFrequency	TCGA-ET-A39J-01A-11D-A19J-08	TCGA-ET-A39J-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d62899a1-d79f-4e88-b8d9-87a175bf7e67	32d1eddb-59f0-4a17-affb-eec3b4f2a652	g.chr1:17721722_17721723delGA	ENST00000434762.2	+	0	1545							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	tttgttttttgagagtcttgct	0.485														1607	0.320887	0.3389	0.366	5008	,	,		16526	0.1716		0.3738	False		,,,				2504	0.364					ENST00000434762.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29								peptidyl arginine deiminase, type VI	L-Citrulline(DB00155)																																					353238				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17721722_17721723delGA	AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"""Peptidyl arginine deiminases"""	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17721724_17721725delGA										Q6TGC4	PADI6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	0	1545	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)						Q330K5|Q70SX3	RNA	DEL	ENST00000434762.2	37																																																																																						0.485	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421		7	4						7	4	---	---	---	---
RRP36	88745	broad.mit.edu	37	6	42989414	42989419	+	In_Frame_Del	DEL	GCCGGG	GCCGGG	-	rs200886831|rs551189349|rs199544375		TCGA-ET-A39J-01A-11D-A19J-08	TCGA-ET-A39J-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d62899a1-d79f-4e88-b8d9-87a175bf7e67	32d1eddb-59f0-4a17-affb-eec3b4f2a652	g.chr6:42989414_42989419delGCCGGG	ENST00000244496.5	+	1	32_37	c.22_27delGCCGGG	c.(22-27)gccgggdel	p.AG14del		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	14					ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A8_G9delAG(2)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TAACTAccgcgccggggccggggccg	0.777																																						ENST00000244496.5																			2	Deletion - In frame(2)	p.A8_G9delAG(2)	prostate(1)|central_nervous_system(1)	NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						c.(22-27)del		ribosomal RNA processing 36 homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	88745				ribosomal small subunit biogenesis|rRNA processing	nucleolus		g.chr6:42989414_42989419delGCCGGG	BC011933	CCDS34453.1	6p21.1	2010-07-06	2010-07-06	2010-07-06	ENSG00000124541	ENSG00000124541			21374	protein-coding gene	gene with protein product		613475	"""chromosome 6 open reading frame 153"""	C6orf153		20038530	Standard	NM_033112		Approved	dJ20C7.4	uc003otp.1	Q96EU6	OTTHUMG00000014715	ENST00000244496.5:c.22_27delGCCGGG	6.37:g.42989420_42989425delGCCGGG	ENSP00000244496:p.Ala14_Gly15del						p.AG14del	NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN			1	32_37	+			14					Q9BRF6|Q9P0C8	In_Frame_Del	DEL	ENST00000244496.5	37	c.22_27delGCCGGG	CCDS34453.1																																																																																				0.777	RRP36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040572.1	NM_033112		5	4						5	4	---	---	---	---
FABP5P3	220832	broad.mit.edu	37	7	152140120	152140121	+	RNA	INS	-	-	T	rs369275156|rs112177366		TCGA-ET-A39J-01A-11D-A19J-08	TCGA-ET-A39J-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d62899a1-d79f-4e88-b8d9-87a175bf7e67	32d1eddb-59f0-4a17-affb-eec3b4f2a652	g.chr7:152140120_152140121insT	ENST00000477993.1	+	0	875_876					NR_002935.1		A8MUU1	FB5L3_HUMAN	fatty acid binding protein 5 pseudogene 3								lipid binding (GO:0008289)|transporter activity (GO:0005215)										CTGTTTCTTTCTTTTTTTTTTC	0.327																																						ENST00000477993.1																			0																																																			0							g.chr7:152140120_152140121insT			7q36.1	2010-10-12	2010-10-12	2010-10-12	ENSG00000241735	ENSG00000241735			22573	pseudogene	pseudogene			"""fatty acid binding protein 5-like 3"", ""fatty acid binding protein 5-like 3 (pseudogene)"""	FABP5L3			Standard	NR_002935		Approved	TCAG_1781704	uc003wlb.3	A8MUU1	OTTHUMG00000157257		7.37:g.152140130_152140130dupT								NR_002935.1						0	875_876	+									RNA	INS	ENST00000477993.1	37																																																																																						0.327	FABP5P3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000348208.1	NR_002935		2	4						2	4	---	---	---	---
EMG1	10436	broad.mit.edu	37	12	7080212	7080213	+	Splice_Site	INS	-	-	C	rs11428482|rs374779752|rs17857448		TCGA-ET-A39J-01A-11D-A19J-08	TCGA-ET-A39J-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d62899a1-d79f-4e88-b8d9-87a175bf7e67	32d1eddb-59f0-4a17-affb-eec3b4f2a652	g.chr12:7080212_7080213insC	ENST00000261406.6	+	2	267_268	c.124_125insC	c.(124-126)ttt>tCtt	p.F42fs	PHB2_ENST00000544134.1_5'Flank|EMG1_ENST00000546220.1_3'UTR|PHB2_ENST00000399433.2_5'Flank|PHB2_ENST00000546111.1_5'Flank|PHB2_ENST00000440277.1_5'Flank|PHB2_ENST00000535923.1_5'Flank|PHB2_ENST00000542912.1_5'Flank	NM_006331.7	NP_006322.4			EMG1 N1-specific pseudouridine methyltransferase																		GAGGCCGTAGTTTATTGTGGTG	0.569																																						ENST00000546220.1																			0													EMG1 N1-specific pseudouridine methyltransferase				3746,4		1873,0,2						5.4	1.0		dbSNP_120	28	7902,2		3951,0,1	no	frameshift	EMG1	NM_006331.7		5824,0,3	A1A1,A1R,RR		0.0253,0.1067,0.0515				11648,6				SO:0001630	splice_region_variant	10436				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding	g.chr12:7080212_7080213insC	U72514	CCDS73430.1	12p13	2013-05-22	2013-05-22			ENSG00000126749			16912	protein-coding gene	gene with protein product		611531	"""EMG1 nucleolar protein homolog (S. cerevisiae)"""			9074930, 11935223, 19463982	Standard	NM_006331		Approved	C2F, NEP1, Grcc2f	uc001qsh.4	Q92979		ENST00000261406.6:c.124-1->C	12.37:g.7080212_7080213insC						U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA				Q92979	NEP1_HUMAN			0	157_158	+									RNA	INS	ENST00000261406.6	37																																																																																						0.569	EMG1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006331	Frame_Shift_Ins	9	7						9	7	---	---	---	---
SPTB	6710	broad.mit.edu	37	14	65266617	65266617	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ET-A39J-01A-11D-A19J-08	TCGA-ET-A39J-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d62899a1-d79f-4e88-b8d9-87a175bf7e67	32d1eddb-59f0-4a17-affb-eec3b4f2a652	g.chr14:65266617delA	ENST00000389721.5	-	8	944	c.912delT	c.(910-912)attfs	p.I304fs	SPTB_ENST00000556626.1_Frame_Shift_Del_p.I304fs|SPTB_ENST00000542895.1_Frame_Shift_Del_p.I304fs|SPTB_ENST00000389722.3_Frame_Shift_Del_p.I304fs|SPTB_ENST00000389720.3_Frame_Shift_Del_p.I304fs	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	304					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGTACTTTTCAATCATCTTCT	0.498											OREG0022735	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(910-912)atfs		spectrin, beta, erythrocytic							157.0	140.0	146.0					14																	65266617		2203	4300	6503	SO:0001589	frameshift_variant	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65266617delA		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.912delT	14.37:g.65266617delA	ENSP00000374371:p.Ile304fs		OREG0022735	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1082	SPTB_ENST00000389720.3_Frame_Shift_Del_p.I304fs|SPTB_ENST00000542895.1_Frame_Shift_Del_p.I304fs|SPTB_ENST00000389721.5_Frame_Shift_Del_p.I304fs|SPTB_ENST00000556626.1_Frame_Shift_Del_p.I304fs	p.I304fs	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	8	965	-		all_lung(585;4.15e-09)	304					Q15510|Q15519	Frame_Shift_Del	DEL	ENST00000389721.5	37	c.912delT	CCDS32100.1																																																																																				0.498	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			39	89						39	89	---	---	---	---
FRG1B	284802	broad.mit.edu	37	20	29625899	29625900	+	Frame_Shift_Ins	INS	-	-	AT	rs201509828		TCGA-ET-A39J-01A-11D-A19J-08	TCGA-ET-A39J-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d62899a1-d79f-4e88-b8d9-87a175bf7e67	32d1eddb-59f0-4a17-affb-eec3b4f2a652	g.chr20:29625899_29625900insAT	ENST00000278882.3	+	5	523_524	c.143_144insAT	c.(142-147)aaatatfs	p.KY48fs	FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.KY48fs|FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.KY53fs			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	48										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTATGGAAAATATCTTGGTA	0.342																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(142-144)atafs																																						SO:0001589	frameshift_variant	0							g.chr20:29625899_29625900insAT			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.146_147dupAT	20.37:g.29625902_29625903dupAT	ENSP00000278882:p.Lys48fs					FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.I48fs|FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.I53fs	p.I48fs							5	523_524	+								C4AME5	Frame_Shift_Ins	INS	ENST00000278882.3	37	c.143_144insAT																																																																																					0.342	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		10	150						10	150	---	---	---	---
