#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
GLIPR1L1	256710	broad.mit.edu	37	12	75741494	75741494	+	Silent	SNP	C	C	T	rs534996290		TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr12:75741494C>T	ENST00000378695.4	+	3	603	c.513C>T	c.(511-513)taC>taT	p.Y171Y	CAPS2_ENST00000442339.2_Intron|GLIPR1L1_ENST00000312442.2_Silent_p.Y171Y			Q6UWM5	GPRL1_HUMAN	GLI pathogenesis-related 1 like 1	171	SCP.				binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)|sperm connecting piece (GO:0097224)				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						TATGCAACTACGGACCTGCGT	0.358													C|||	1	0.000199681	0.0008	0.0	5008	,	,		12715	0.0		0.0	False		,,,				2504	0.0					ENST00000312442.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						c.(511-513)taC>taT		GLI pathogenesis-related 1 like 1							126.0	120.0	122.0					12																	75741494		2203	4300	6503	SO:0001819	synonymous_variant	256710					extracellular region		g.chr12:75741494C>T	BC014603	CCDS9009.1	12q21.1	2014-06-03				ENSG00000173401			28392	protein-coding gene	gene with protein product		610395				12477932	Standard	NM_152779		Approved	MGC26856	uc001sxn.3	Q6UWM5	OTTHUMG00000169755	ENST00000378695.4:c.513C>T	12.37:g.75741494C>T						GLIPR1L1_ENST00000378695.4_Silent_p.Y171Y|CAPS2_ENST00000442339.2_Intron	p.Y171Y	NM_152779.2	NP_689992.1	Q6UWM5	GPRL1_HUMAN			3	559	+			171					Q96L06	Silent	SNP	ENST00000378695.4	37	c.513C>T																																																																																					0.358	GLIPR1L1-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000405714.1	NM_152779		4	169	0	0	0	1	0	4	169				
UGT2A3	79799	broad.mit.edu	37	4	69795658	69795658	+	Missense_Mutation	SNP	T	T	G			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr4:69795658T>G	ENST00000251566.4	-	6	1487	c.1457A>C	c.(1456-1458)cAc>cCc	p.H486P	UGT2A3_ENST00000420231.2_Missense_Mutation_p.H197P	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	486					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TATAGAGTAGTGCTGGAACCA	0.453																																						ENST00000251566.4																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(1456-1458)cAc>cCc		UDP glucuronosyltransferase 2 family, polypeptide A3							70.0	71.0	71.0					4																	69795658		2203	4300	6503	SO:0001583	missense	79799					integral to membrane	glucuronosyltransferase activity	g.chr4:69795658T>G		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.1457A>C	4.37:g.69795658T>G	ENSP00000251566:p.His486Pro					UGT2A3_ENST00000420231.2_Missense_Mutation_p.H197P	p.H486P	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN			6	1487	-			486					Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	c.1457A>C	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	T	8.934	0.964114	0.18583	.	.	ENSG00000135220	ENST00000251566;ENST00000420231	T;T	0.59502	0.26;0.26	2.22	2.22	0.28083	.	0.210963	0.42053	D	0.000768	T	0.46964	0.1420	L	0.27053	0.805	0.31489	N	0.666235	B	0.32939	0.391	B	0.41510	0.359	T	0.56823	-0.7915	10	0.87932	D	0	.	7.9616	0.30074	0.0:0.0:0.0:1.0	.	486	Q6UWM9	UD2A3_HUMAN	P	486;197	ENSP00000251566:H486P;ENSP00000440115:H197P	ENSP00000251566:H486P	H	-	2	0	UGT2A3	69830247	1.000000	0.71417	0.519000	0.27824	0.008000	0.06430	6.678000	0.74508	1.027000	0.39758	0.402000	0.26972	CAC		0.453	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743		9	117	0	0	0	1	0	9	117				
SLC20A1	6574	broad.mit.edu	37	2	113418740	113418740	+	Silent	SNP	A	A	G	rs545904103		TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr2:113418740A>G	ENST00000272542.3	+	10	2354	c.1815A>G	c.(1813-1815)gcA>gcG	p.A605A		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	605					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						TTGAACTGGCATCTGCCCTCA	0.403																																						ENST00000272542.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						c.(1813-1815)gcA>gcG		solute carrier family 20 (phosphate transporter), member 1							145.0	127.0	133.0					2																	113418740		2203	4300	6503	SO:0001819	synonymous_variant	6574				phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	g.chr2:113418740A>G		CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"""Solute carriers"""	10946	protein-coding gene	gene with protein product	"""gibbon ape leukemia virus receptor 1"""	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.1815A>G	2.37:g.113418740A>G							p.A605A	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN			10	2354	+			605					Q08344|Q6DHX8|Q9UQ82	Silent	SNP	ENST00000272542.3	37	c.1815A>G	CCDS2099.1																																																																																				0.403	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254086.2	NM_005415		11	79	0	0	0	1	0	11	79				
ZBTB34	403341	broad.mit.edu	37	9	129642336	129642336	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr9:129642336G>A	ENST00000373452.2	+	1	710	c.646G>A	c.(646-648)Gag>Aag	p.E216K	ZBTB34_ENST00000319119.4_Missense_Mutation_p.E220K			Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	216					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						GATTCAGATAGAGGGAGACCA	0.577																																						ENST00000319119.4																			0				endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						c.(658-660)Gag>Aag		zinc finger and BTB domain containing 34							64.0	71.0	68.0					9																	129642336		2013	4155	6168	SO:0001583	missense	403341				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:129642336G>A	DQ227306	CCDS48023.1	9q33.3	2013-01-08			ENSG00000177125	ENSG00000177125		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31446	protein-coding gene	gene with protein product		611692				16718364	Standard	NM_001099270		Approved	KIAA1993, MGC24652, ZNF918	uc004bqm.4	Q8NCN2	OTTHUMG00000020694	ENST00000373452.2:c.646G>A	9.37:g.129642336G>A	ENSP00000362551:p.Glu216Lys					ZBTB34_ENST00000373452.2_Missense_Mutation_p.E216K	p.E220K	NM_001099270.1	NP_001092740.1	Q8NCN2	ZBT34_HUMAN			2	743	+			216					Q38IA7|Q5VYE9	Missense_Mutation	SNP	ENST00000373452.2	37	c.658G>A	CCDS48023.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.283465	0.80803	.	.	ENSG00000177125	ENST00000319119;ENST00000373452	T;T	0.09073	3.02;3.03	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.16385	0.0394	L	0.27053	0.805	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.10359	-1.0633	10	0.08381	T	0.77	.	19.8339	0.96646	0.0:0.0:1.0:0.0	.	216	Q8NCN2	ZBT34_HUMAN	K	220;216	ENSP00000317534:E220K;ENSP00000362551:E216K	ENSP00000317534:E220K	E	+	1	0	ZBTB34	128682157	1.000000	0.71417	0.989000	0.46669	0.997000	0.91878	9.092000	0.94157	2.751000	0.94390	0.655000	0.94253	GAG		0.577	ZBTB34-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001099270		8	61	0	0	0	1	0	8	61				
RELN	5649	broad.mit.edu	37	7	103216050	103216050	+	Silent	SNP	G	G	A			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr7:103216050G>A	ENST00000428762.1	-	29	4407	c.4248C>T	c.(4246-4248)tgC>tgT	p.C1416C	RELN_ENST00000343529.5_Silent_p.C1416C|RELN_ENST00000424685.2_Silent_p.C1416C	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1416	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CATGGCCACTGCAGTAACTGG	0.463																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(4246-4248)tgC>tgT		reelin							149.0	122.0	131.0					7																	103216050		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103216050G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.4248C>T	7.37:g.103216050G>A						RELN_ENST00000343529.5_Silent_p.C1416C|RELN_ENST00000424685.2_Silent_p.C1416C	p.C1416C	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	29	4407	-			1416			EGF-like 3.		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.4248C>T	CCDS47680.1																																																																																				0.463	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		4	96	0	0	0	1	0	4	96				
INTS7	25896	broad.mit.edu	37	1	212118272	212118272	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr1:212118272T>A	ENST00000366994.3	-	19	2559	c.2455A>T	c.(2455-2457)Att>Ttt	p.I819F	INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_Missense_Mutation_p.I799F|INTS7_ENST00000366993.3_Missense_Mutation_p.I805F|INTS7_ENST00000440600.2_Missense_Mutation_p.I770F	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	819					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		TGGACAGCAATGGGCTCTGCA	0.507																																						ENST00000366994.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(2455-2457)Att>Ttt		integrator complex subunit 7							87.0	81.0	83.0					1																	212118272		2203	4300	6503	SO:0001583	missense	25896				snRNA processing	integrator complex	protein binding	g.chr1:212118272T>A	AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.2455A>T	1.37:g.212118272T>A	ENSP00000355961:p.Ile819Phe					INTS7_ENST00000366993.3_Missense_Mutation_p.I805F|INTS7_ENST00000440600.2_Missense_Mutation_p.I770F|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_Missense_Mutation_p.I799F	p.I819F	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	19	2559	-			819					B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Missense_Mutation	SNP	ENST00000366994.3	37	c.2455A>T	CCDS1501.1	.	.	.	.	.	.	.	.	.	.	T	29.3	4.997326	0.93167	.	.	ENSG00000143493	ENST00000366994;ENST00000366993;ENST00000366992;ENST00000440600	T;T;T;T	0.56941	0.46;0.43;0.47;0.46	5.49	5.49	0.81192	.	0.046134	0.85682	D	0.000000	T	0.68403	0.2997	L	0.53249	1.67	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.78314	0.986;0.986;0.986;0.991	T	0.71586	-0.4548	10	0.87932	D	0	-20.4816	15.5835	0.76465	0.0:0.0:0.0:1.0	.	770;799;805;819	B4DLZ6;Q9NVH2-3;Q9NVH2-2;Q9NVH2	.;.;.;INT7_HUMAN	F	819;805;799;770	ENSP00000355961:I819F;ENSP00000355960:I805F;ENSP00000355959:I799F;ENSP00000388908:I770F	ENSP00000355959:I799F	I	-	1	0	INTS7	210184895	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.593000	0.61034	2.090000	0.63153	0.533000	0.62120	ATT		0.507	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434		10	96	0	0	0	1	0	10	96				
RRAD	6236	broad.mit.edu	37	16	66956055	66956055	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr16:66956055C>T	ENST00000299759.6	-	5	1101	c.851G>A	c.(850-852)cGc>cAc	p.R284H	RRAD_ENST00000420652.1_Missense_Mutation_p.R284H			P55042	RAD_HUMAN	Ras-related associated with diabetes	284	Calmodulin-binding.				small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		AGCTACGATGCGGCCCAAGAA	0.612																																						ENST00000299759.6																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(850-852)cGc>cAc		Ras-related associated with diabetes							84.0	69.0	74.0					16																	66956055		2200	4300	6500	SO:0001583	missense	6236				small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr16:66956055C>T	L24564	CCDS10824.1	16q22	2014-05-09			ENSG00000166592	ENSG00000166592			10446	protein-coding gene	gene with protein product		179503				7859947	Standard	NM_004165		Approved	REM3, RAD	uc002eqo.2	P55042	OTTHUMG00000137511	ENST00000299759.6:c.851G>A	16.37:g.66956055C>T	ENSP00000299759:p.Arg284His					RRAD_ENST00000420652.1_Missense_Mutation_p.R284H	p.R284H			P55042	RAD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)	5	1101	-		Ovarian(137;0.192)	284			Calmodulin-binding.		Q96F39	Missense_Mutation	SNP	ENST00000299759.6	37	c.851G>A	CCDS10824.1	.	.	.	.	.	.	.	.	.	.	C	32	5.128202	0.94473	.	.	ENSG00000166592	ENST00000420652;ENST00000299759	T;T	0.67523	-0.27;-0.27	5.93	5.93	0.95920	.	0.046453	0.85682	D	0.000000	T	0.77287	0.4108	M	0.62723	1.935	0.58432	D	0.999994	D	0.76494	0.999	D	0.63033	0.91	T	0.78107	-0.2333	10	0.62326	D	0.03	.	13.5161	0.61541	0.0:0.929:0.0:0.071	.	284	P55042	RAD_HUMAN	H	284	ENSP00000388744:R284H;ENSP00000299759:R284H	ENSP00000299759:R284H	R	-	2	0	RRAD	65513556	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	3.794000	0.55492	2.802000	0.96397	0.561000	0.74099	CGC		0.612	RRAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268830.1	NM_004165		4	53	0	0	0	1	0	4	53				
UBA2	10054	broad.mit.edu	37	19	34957913	34957913	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr19:34957913T>A	ENST00000246548.4	+	16	1805	c.1735T>A	c.(1735-1737)Tcc>Acc	p.S579T	UBA2_ENST00000439527.2_Missense_Mutation_p.S483T|UBA2_ENST00000592791.1_Missense_Mutation_p.S105T	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	579					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SUMO activating enzyme complex (GO:0031510)	ATP binding (GO:0005524)|enzyme activator activity (GO:0008047)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SUMO activating enzyme activity (GO:0019948)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GCCCTCCACCTCCACAGGTGA	0.463																																						ENST00000439527.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(1447-1449)Tcc>Acc		ubiquitin-like modifier activating enzyme 2							54.0	47.0	49.0					19																	34957913		2203	4300	6503	SO:0001583	missense	10054				protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity	g.chr19:34957913T>A	BC003153	CCDS12439.1	19q13.11	2008-02-05	2007-11-30	2007-11-30		ENSG00000126261		"""Ubiquitin-like modifier activating enzymes"""	30661	protein-coding gene	gene with protein product	"""UBA2, ubiquitin-activating enzyme E1 homolog (yeast)"""	613295	"""SUMO1 activating enzyme subunit 2"""	SAE2		10187858, 9920803	Standard	NM_005499		Approved	FLJ13058, HRIHFB2115, ARX	uc002nvk.3	Q9UBT2		ENST00000246548.4:c.1735T>A	19.37:g.34957913T>A	ENSP00000246548:p.Ser579Thr					UBA2_ENST00000246548.4_Missense_Mutation_p.S579T|UBA2_ENST00000592791.1_Missense_Mutation_p.S105T	p.S483T			Q9UBT2	SAE2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.211)		16	1945	+	Esophageal squamous(110;0.162)		579					B3KWB9|O95605|Q59H87|Q6IBP6|Q9NTJ1|Q9UED2	Missense_Mutation	SNP	ENST00000246548.4	37	c.1447T>A	CCDS12439.1	.	.	.	.	.	.	.	.	.	.	T	19.03	3.747072	0.69418	.	.	ENSG00000126261	ENST00000246548;ENST00000439527	T;T	0.58797	0.31;1.47	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.39627	0.1085	N	0.16478	0.41	0.80722	D	1	B	0.27450	0.179	B	0.22386	0.039	T	0.27088	-1.0084	10	0.16896	T	0.51	-7.7963	14.4907	0.67649	0.0:0.0:0.0:1.0	.	579	Q9UBT2	SAE2_HUMAN	T	579;483	ENSP00000246548:S579T;ENSP00000437484:S483T	ENSP00000246548:S579T	S	+	1	0	UBA2	39649753	1.000000	0.71417	0.996000	0.52242	0.875000	0.50365	7.067000	0.76741	2.126000	0.65437	0.455000	0.32223	TCC		0.463	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459257.3	NM_005499		3	27	0	0	0	1	0	3	27				
THPO	7066	broad.mit.edu	37	3	184093747	184093747	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr3:184093747C>T	ENST00000204615.7	-	3	284	c.70G>A	c.(70-72)Gct>Act	p.A24T	THPO_ENST00000445696.2_Missense_Mutation_p.A24T|THPO_ENST00000421442.2_Missense_Mutation_p.A24T|EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000477594.1_5'Flank	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	24					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|myeloid cell differentiation (GO:0030099)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|thrombopoietin-mediated signaling pathway (GO:0038163)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCAGGAGGAGCCGGGCTGGAC	0.507																																						ENST00000204615.7																			0				NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16						c.(70-72)Gct>Act		thrombopoietin							113.0	103.0	107.0					3																	184093747		2203	4300	6503	SO:0001583	missense	7066				cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity	g.chr3:184093747C>T		CCDS3265.1, CCDS54693.1	3q27	2014-01-30	2008-07-31		ENSG00000090534	ENSG00000090534		"""Endogenous ligands"""	11795	protein-coding gene	gene with protein product	"""prepro-thrombopoietin"", ""megakaryocyte stimulating factor"", ""myeloproliferative leukemia virus oncogene ligand"", ""megakaryocyte growth and development factor"", ""MPL ligand"", ""megakaryocyte colony-stimulating factor"", ""c-mpl ligand"", ""thrombopoietin nirs variant 1"""	600044		MGDF		8202154	Standard	XM_006713738		Approved	TPO, MPLLG	uc003fol.1	P40225	OTTHUMG00000156745	ENST00000204615.7:c.70G>A	3.37:g.184093747C>T	ENSP00000204615:p.Ala24Thr					THPO_ENST00000421442.2_Missense_Mutation_p.A24T|THPO_ENST00000445696.2_Missense_Mutation_p.A24T|EIF2B5_ENST00000444495.1_Intron	p.A24T	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		3	284	-	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		24					A1L3Y0|B7ZLR8|B9EGA8|Q13020|Q15790|Q15791|Q15792	Missense_Mutation	SNP	ENST00000204615.7	37	c.70G>A	CCDS3265.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719829	0.68844	.	.	ENSG00000090534	ENST00000204615;ENST00000445696;ENST00000421442;ENST00000353488	T;T;T	0.50548	0.74;0.74;0.74	4.19	4.19	0.49359	Erythropoietin/thrombopoeitin, conserved site (1);Four-helical cytokine, core (1);	0.505548	0.16754	N	0.200929	T	0.50616	0.1626	N	0.19112	0.55	0.28248	N	0.925393	P;P;P;D;P;P	0.67145	0.943;0.59;0.643;0.996;0.932;0.945	P;B;B;D;P;P	0.73708	0.591;0.201;0.303;0.981;0.558;0.685	T	0.39702	-0.9601	10	0.34782	T	0.22	-1.3724	11.8723	0.52527	0.0:1.0:0.0:0.0	.	24;24;24;24;24;24	Q5FBX4;P40225-3;Q5FBX8;F8W6L1;P40225-2;P40225	.;.;.;.;.;TPO_HUMAN	T	24	ENSP00000204615:A24T;ENSP00000410763:A24T;ENSP00000411704:A24T	ENSP00000204615:A24T	A	-	1	0	THPO	185576441	0.957000	0.32711	0.996000	0.52242	0.984000	0.73092	2.104000	0.41815	2.157000	0.67596	0.467000	0.42956	GCT		0.507	THPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345554.1	NM_000460		4	74	0	0	0	1	0	4	74				
PKHD1L1	93035	broad.mit.edu	37	8	110457474	110457474	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr8:110457474G>C	ENST00000378402.5	+	38	5480	c.5376G>C	c.(5374-5376)gaG>gaC	p.E1792D		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1792	IPT/TIG 10.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GAGCAATAGAGGTTAATGAAA	0.423										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(5374-5376)gaG>gaC		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							122.0	116.0	118.0					8																	110457474		1943	4152	6095	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110457474G>C	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.5376G>C	8.37:g.110457474G>C	ENSP00000367655:p.Glu1792Asp	HNSCC(38;0.096)					p.E1792D	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		38	5480	+			1792			IPT/TIG 10.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.5376G>C	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	0.490	-0.875587	0.02550	.	.	ENSG00000205038	ENST00000378402	T	0.76968	-1.06	6.03	-4.37	0.03633	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.616117	0.16447	N	0.214046	T	0.30262	0.0759	N	0.00308	-1.67	0.09310	N	0.999995	B	0.02656	0.0	B	0.06405	0.002	T	0.49273	-0.8957	10	0.09084	T	0.74	.	2.2252	0.03982	0.1058:0.1957:0.3367:0.3619	.	1792	Q86WI1	PKHL1_HUMAN	D	1792	ENSP00000367655:E1792D	ENSP00000367655:E1792D	E	+	3	2	PKHD1L1	110526650	0.000000	0.05858	0.285000	0.24819	0.266000	0.26442	-1.285000	0.02791	-1.042000	0.03262	-0.266000	0.10368	GAG		0.423	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		9	90	0	0	0	1	0	9	90				
ZNF311	282890	broad.mit.edu	37	6	28963010	28963010	+	Missense_Mutation	SNP	G	G	A	rs551114761		TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr6:28963010G>A	ENST00000377179.3	-	7	2281	c.1769C>T	c.(1768-1770)aCg>aTg	p.T590M	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	590					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						ACGGAAGGACGTGCCACACTC	0.488																																						ENST00000377179.3																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						c.(1768-1770)aCg>aTg		zinc finger protein 311							135.0	118.0	124.0					6																	28963010		1511	2709	4220	SO:0001583	missense	282890				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:28963010G>A	AL833166	CCDS34357.1	6p21.33	2013-01-08			ENSG00000197935	ENSG00000197935		"""Zinc fingers, C2H2-type"", ""-"""	13847	protein-coding gene	gene with protein product							Standard	XM_006715067		Approved		uc003nlu.2	Q5JNZ3	OTTHUMG00000031292	ENST00000377179.3:c.1769C>T	6.37:g.28963010G>A	ENSP00000366384:p.Thr590Met					ZNF311_ENST00000483450.1_5'UTR	p.T590M	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN			7	2281	-			590					A2BFK5|B0S7Y4|Q92971	Missense_Mutation	SNP	ENST00000377179.3	37	c.1769C>T	CCDS34357.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.831719	0.32421	.	.	ENSG00000197935	ENST00000377179;ENST00000535083	T	0.18016	2.24	3.79	-3.18	0.05186	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01523	0.0049	N	0.03253	-0.375	0.09310	N	1	B	0.25743	0.133	B	0.19946	0.027	T	0.43798	-0.9369	9	0.66056	D	0.02	0.0071	0.5879	0.00723	0.3942:0.1329:0.2353:0.2377	.	590	Q5JNZ3	ZN311_HUMAN	M	590;498	ENSP00000366384:T590M	ENSP00000366384:T590M	T	-	2	0	ZNF311	29070989	0.036000	0.19791	0.001000	0.08648	0.610000	0.37248	1.406000	0.34646	-0.510000	0.06523	-0.941000	0.02677	ACG		0.488	ZNF311-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076631.3	XM_212581		9	110	0	0	0	1	0	9	110				
OR6C2	341416	broad.mit.edu	37	12	55846632	55846632	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr12:55846632T>C	ENST00000322678.1	+	1	635	c.635T>C	c.(634-636)gTg>gCg	p.V212A	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	212					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						CTAGTTTGTGTGATTCTGTCC	0.408																																						ENST00000322678.1																			0				kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						c.(634-636)gTg>gCg		olfactory receptor, family 6, subfamily C, member 2							176.0	166.0	170.0					12																	55846632		2203	4300	6503	SO:0001583	missense	341416				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55846632T>C	AF179766	CCDS31824.1	12q13.2	2012-08-09				ENSG00000179695		"""GPCR / Class A : Olfactory receptors"""	15436	protein-coding gene	gene with protein product							Standard	NM_054105		Approved	OR6C67	uc001sgz.1	Q9NZP2	OTTHUMG00000169957	ENST00000322678.1:c.635T>C	12.37:g.55846632T>C	ENSP00000323606:p.Val212Ala					RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	p.V212A	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN			1	635	+			212						Missense_Mutation	SNP	ENST00000322678.1	37	c.635T>C	CCDS31824.1	.	.	.	.	.	.	.	.	.	.	T	18.49	3.635111	0.67130	.	.	ENSG00000179695	ENST00000322678	T	0.00198	8.57	5.42	5.42	0.78866	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000058	T	0.00695	0.0023	M	0.88512	2.96	0.09310	N	0.999999	D	0.89917	1.0	D	0.77557	0.99	T	0.36187	-0.9758	10	0.87932	D	0	.	14.4208	0.67183	0.0:0.0:0.0:1.0	.	212	Q9NZP2	OR6C2_HUMAN	A	212	ENSP00000323606:V212A	ENSP00000323606:V212A	V	+	2	0	OR6C2	54132899	0.000000	0.05858	0.385000	0.26158	0.057000	0.15508	0.075000	0.14686	2.275000	0.75901	0.496000	0.49642	GTG		0.408	OR6C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406676.1	NM_054105		44	178	0	0	0	1	0	44	178				
OGDH	4967	broad.mit.edu	37	7	44737090	44737090	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr7:44737090G>A	ENST00000222673.5	+	16	2215	c.2173G>A	c.(2173-2175)Gtg>Atg	p.V725M	OGDH_ENST00000449767.1_Missense_Mutation_p.V721M|OGDH_ENST00000543843.1_Missense_Mutation_p.V676M|OGDH_ENST00000447398.1_Missense_Mutation_p.V736M|OGDH_ENST00000444676.1_Missense_Mutation_p.V740M|OGDH_ENST00000439616.2_Missense_Mutation_p.V575M	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	725					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	TGAGTACGGCGTGCTGGGTGA	0.592																																						ENST00000222673.5																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36						c.(2173-2175)Gtg>Atg		oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	NADH(DB00157)						89.0	87.0	88.0					7																	44737090		2203	4300	6503	SO:0001583	missense	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44737090G>A	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.2173G>A	7.37:g.44737090G>A	ENSP00000222673:p.Val725Met					OGDH_ENST00000447398.1_Missense_Mutation_p.V736M|OGDH_ENST00000439616.2_Missense_Mutation_p.V575M|OGDH_ENST00000449767.1_Missense_Mutation_p.V721M|OGDH_ENST00000543843.1_Missense_Mutation_p.V676M|OGDH_ENST00000444676.1_Missense_Mutation_p.V740M	p.V725M	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN			16	2215	+			725					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	ENST00000222673.5	37	c.2173G>A	CCDS34627.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.856341	0.91355	.	.	ENSG00000105953	ENST00000439616;ENST00000449767;ENST00000447398;ENST00000444676;ENST00000222673;ENST00000543843	D;D;D;D;D;D	0.91180	-2.8;-2.8;-2.8;-2.8;-2.8;-2.8	4.99	4.99	0.66335	Transketolase-like, pyrimidine-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.96516	0.8863	M	0.93106	3.38	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.997;0.999;0.999;0.999;0.999	D	0.97354	0.9965	10	0.87932	D	0	-45.3373	18.0568	0.89365	0.0:0.0:1.0:0.0	.	520;575;721;736;627;725	B4E3E9;E9PFG7;E9PBM1;E9PDF2;A2VCT2;Q02218	.;.;.;.;.;ODO1_HUMAN	M	575;721;736;740;725;676	ENSP00000398576:V575M;ENSP00000392878:V721M;ENSP00000388183:V736M;ENSP00000414662:V740M;ENSP00000222673:V725M;ENSP00000443821:V676M	ENSP00000222673:V725M	V	+	1	0	OGDH	44703615	1.000000	0.71417	0.993000	0.49108	0.984000	0.73092	9.657000	0.98554	2.588000	0.87417	0.555000	0.69702	GTG		0.592	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			26	64	0	0	0	1	0	26	64				
ZNF462	58499	broad.mit.edu	37	9	109692929	109692929	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr9:109692929G>A	ENST00000277225.5	+	4	6260	c.5971G>A	c.(5971-5973)Gtc>Atc	p.V1991I	ZNF462_ENST00000441147.2_Missense_Mutation_p.V836I|ZNF462_ENST00000497489.1_3'UTR|ZNF462_ENST00000542028.1_5'Flank|ZNF462_ENST00000457913.1_Missense_Mutation_p.V1991I			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1991					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CCGAAAGCACGTCCAGTATGG	0.498																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(5971-5973)Gtc>Atc		zinc finger protein 462							148.0	123.0	132.0					9																	109692929		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109692929G>A	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.5971G>A	9.37:g.109692929G>A	ENSP00000277225:p.Val1991Ile					ZNF462_ENST00000441147.2_Missense_Mutation_p.V836I|ZNF462_ENST00000457913.1_Missense_Mutation_p.V1991I|ZNF462_ENST00000497489.1_3'UTR	p.V1991I			Q96JM2	ZN462_HUMAN			4	6260	+			1991					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.5971G>A	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	G	34	5.311652	0.95655	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147	T;T;T;T	0.05855	3.38;3.77;3.87;3.92	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.17789	0.0427	L	0.32530	0.975	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.72625	0.978;0.969	T	0.00756	-1.1579	10	0.56958	D	0.05	-17.4723	19.2748	0.94027	0.0:0.0:1.0:0.0	.	1991;1991	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	I	1991;1991;874;836	ENSP00000277225:V1991I;ENSP00000414570:V1991I;ENSP00000363818:V874I;ENSP00000397306:V836I	ENSP00000277225:V1991I	V	+	1	0	ZNF462	108732750	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.402000	0.97298	2.558000	0.86282	0.655000	0.94253	GTC		0.498	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		4	67	0	0	0	1	0	4	67				
STC1	6781	broad.mit.edu	37	8	23702537	23702537	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr8:23702537C>A	ENST00000290271.2	-	4	773	c.490G>T	c.(490-492)Gtc>Ttc	p.V164F	STC1_ENST00000524323.1_Missense_Mutation_p.V95F	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	164					bone development (GO:0060348)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cAMP (GO:0071320)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hypoxia (GO:0071456)|chondrocyte proliferation (GO:0035988)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endothelial cell morphogenesis (GO:0001886)|growth plate cartilage axis specification (GO:0003421)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of renal phosphate excretion (GO:1903403)|ossification (GO:0001503)|positive regulation of calcium ion import (GO:0090280)|regulation of anion transport (GO:0044070)|regulation of cardiac muscle cell contraction (GO:0086004)|response to vitamin D (GO:0033280)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.V164L(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		AGGCTTCGGACAAGTCTGTTA	0.522																																						ENST00000290271.2																			1	Substitution - Missense(1)	p.V164L(1)	lung(1)	breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						c.(490-492)Gtc>Ttc		stanniocalcin 1							120.0	110.0	114.0					8																	23702537		2203	4300	6503	SO:0001583	missense	6781				cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity	g.chr8:23702537C>A		CCDS6043.1	8p22-p12	2008-06-23			ENSG00000159167	ENSG00000159167			11373	protein-coding gene	gene with protein product		601185		STC		9480753	Standard	NM_003155		Approved		uc003xdw.1	P52823	OTTHUMG00000097853	ENST00000290271.2:c.490G>T	8.37:g.23702537C>A	ENSP00000290271:p.Val164Phe					STC1_ENST00000524323.1_Missense_Mutation_p.V95F	p.V164F	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)	4	773	-		Prostate(55;0.055)|Breast(100;0.116)	164					B4DN22|Q71UE5	Missense_Mutation	SNP	ENST00000290271.2	37	c.490G>T	CCDS6043.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.884175	0.72410	.	.	ENSG00000159167	ENST00000290271;ENST00000540277;ENST00000524323	.	.	.	6.16	0.367	0.16140	.	0.315253	0.35349	N	0.003274	T	0.42921	0.1224	L	0.42245	1.32	0.37819	D	0.928319	B	0.26577	0.153	B	0.23275	0.045	T	0.25433	-1.0132	9	0.66056	D	0.02	-15.5655	6.1791	0.20461	0.0:0.4748:0.1201:0.4051	.	164	P52823	STC1_HUMAN	F	164;95;95	.	ENSP00000290271:V164F	V	-	1	0	STC1	23758482	0.778000	0.28640	0.424000	0.26647	0.940000	0.58332	1.155000	0.31700	-0.211000	0.10124	-0.143000	0.13931	GTC		0.522	STC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215143.1			7	111	1	0	5.18039e-06	1	5.33055e-06	7	111				
OR10H1	26539	broad.mit.edu	37	19	15918425	15918425	+	Silent	SNP	G	G	A			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr19:15918425G>A	ENST00000334920.2	-	1	511	c.423C>T	c.(421-423)tgC>tgT	p.C141C		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						CCAGGCAGGCGCAGCCCCGCG	0.647																																						ENST00000334920.2																			0				cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						c.(421-423)tgC>tgT		olfactory receptor, family 10, subfamily H, member 1							89.0	74.0	79.0					19																	15918425		2203	4300	6503	SO:0001819	synonymous_variant	26539				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15918425G>A	AC004510	CCDS12335.1	19p13.1	2012-08-09				ENSG00000186723		"""GPCR / Class A : Olfactory receptors"""	8172	protein-coding gene	gene with protein product							Standard	NM_013940		Approved		uc002nbq.2	Q9Y4A9		ENST00000334920.2:c.423C>T	19.37:g.15918425G>A							p.C141C	NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN			1	511	-			141					Q6IFQ2|Q96R59	Silent	SNP	ENST00000334920.2	37	c.423C>T	CCDS12335.1																																																																																				0.647	OR10H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460364.1			10	94	0	0	0	1	0	10	94				
PKHD1	5314	broad.mit.edu	37	6	51824709	51824709	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr6:51824709A>T	ENST00000371117.3	-	36	6142	c.5867T>A	c.(5866-5868)cTg>cAg	p.L1956Q	PKHD1_ENST00000340994.4_Missense_Mutation_p.L1956Q	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1956	G8 1. {ECO:0000255|PROSITE- ProRule:PRU00817}.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTTAGTGTCCAGCAGAAGCAA	0.458											OREG0017492	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(5866-5868)cTg>cAg		polycystic kidney and hepatic disease 1 (autosomal recessive)							192.0	171.0	178.0					6																	51824709		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51824709A>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.5867T>A	6.37:g.51824709A>T	ENSP00000360158:p.Leu1956Gln		OREG0017492	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	980	PKHD1_ENST00000340994.4_Missense_Mutation_p.L1956Q	p.L1956Q	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			36	6142	-	Lung NSC(77;0.0605)		1956			G8 1.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.5867T>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	A	15.47	2.844240	0.51164	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.90788	-2.73;-2.73	5.69	5.69	0.88448	G8 domain (2);	0.102905	0.40222	N	0.001145	D	0.95695	0.8600	M	0.91818	3.245	0.35410	D	0.792386	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97529	1.0078	10	0.87932	D	0	.	15.1232	0.72460	1.0:0.0:0.0:0.0	.	1956;1956	P08F94-2;P08F94	.;PKHD1_HUMAN	Q	1956	ENSP00000360158:L1956Q;ENSP00000341097:L1956Q	ENSP00000341097:L1956Q	L	-	2	0	PKHD1	51932668	0.999000	0.42202	0.944000	0.38274	0.290000	0.27261	6.151000	0.71806	2.162000	0.67917	0.533000	0.62120	CTG		0.458	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		6	183	0	0	0	1	0	6	183				
NECAP2	55707	broad.mit.edu	37	1	16767279	16767279	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr1:16767279C>G	ENST00000337132.5	+	1	113	c.23C>G	c.(22-24)tCg>tGg	p.S8W	NECAP2_ENST00000406746.1_Missense_Mutation_p.S8W|NECAP2_ENST00000486390.1_3'UTR|NECAP2_ENST00000443980.2_Missense_Mutation_p.S8W|NECAP2_ENST00000504551.2_Missense_Mutation_p.S8W|NECAP2_ENST00000457722.2_Intron	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2	8					endocytosis (GO:0006897)|protein transport (GO:0015031)	clathrin vesicle coat (GO:0030125)|coated pit (GO:0005905)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GGGTACGAGTCGGTGCTCTGT	0.652											OREG0013136	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000337132.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(22-24)tCg>tGg		NECAP endocytosis associated 2							137.0	110.0	119.0					1																	16767279		2203	4300	6503	SO:0001583	missense	55707				endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane		g.chr1:16767279C>G	AK021938	CCDS173.1, CCDS44066.1, CCDS44067.1	1p36.13	2008-02-05			ENSG00000157191	ENSG00000157191			25528	protein-coding gene	gene with protein product		611624				14555962, 15494011	Standard	NM_001145277		Approved	FLJ10420	uc001ayq.3	Q9NVZ3	OTTHUMG00000002313	ENST00000337132.5:c.23C>G	1.37:g.16767279C>G	ENSP00000338746:p.Ser8Trp		OREG0013136	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	712	NECAP2_ENST00000443980.2_Missense_Mutation_p.S8W|NECAP2_ENST00000457722.2_Intron|NECAP2_ENST00000406746.1_Missense_Mutation_p.S8W|NECAP2_ENST00000504551.2_Missense_Mutation_p.S8W|NECAP2_ENST00000486390.1_3'UTR	p.S8W	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)	1	113	+		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	8					B4DY19|E9PGQ8|Q5VSU4|Q5VSU5|Q9H7L1|Q9H8L1	Missense_Mutation	SNP	ENST00000337132.5	37	c.23C>G	CCDS173.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.872894	0.72180	.	.	ENSG00000157191	ENST00000337132;ENST00000504551;ENST00000406746;ENST00000263498;ENST00000443980;ENST00000492095	T;T;T;T;T	0.46819	0.86;1.34;0.86;0.86;0.86	5.74	5.74	0.90152	.	0.066293	0.64402	D	0.000005	T	0.74574	0.3734	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.76069	-0.3094	10	0.38643	T	0.18	-14.0913	17.4128	0.87491	0.0:1.0:0.0:0.0	.	8;8	Q9NVZ3-2;Q9NVZ3	.;NECP2_HUMAN	W	8	ENSP00000338746:S8W;ENSP00000424509:S8W;ENSP00000383925:S8W;ENSP00000391942:S8W;ENSP00000427620:S8W	ENSP00000263498:S8W	S	+	2	0	NECAP2	16639866	1.000000	0.71417	0.987000	0.45799	0.075000	0.17131	6.669000	0.74462	2.712000	0.92718	0.561000	0.74099	TCG		0.652	NECAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006680.2	NM_018090		14	33	0	0	0	1	0	14	33				
CLCA1	1179	broad.mit.edu	37	1	86959231	86959231	+	Silent	SNP	A	A	T			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr1:86959231A>T	ENST00000234701.3	+	11	1980	c.1629A>T	c.(1627-1629)gtA>gtT	p.V543V	CLCA1_ENST00000394711.1_Silent_p.V543V			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	543					calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GTGGCTTTGTAGTGGACAAAA	0.443																																						ENST00000234701.3																			0				NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1627-1629)gtA>gtT		chloride channel accessory 1							116.0	103.0	107.0					1																	86959231		2203	4300	6503	SO:0001819	synonymous_variant	1179				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	g.chr1:86959231A>T		CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"""chloride channel, calcium activated, family member 1"", ""chloride channel regulator 1"""			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.1629A>T	1.37:g.86959231A>T						CLCA1_ENST00000394711.1_Silent_p.V543V	p.V543V			A8K7I4	CLCA1_HUMAN		all cancers(265;0.0249)|Epithelial(280;0.0476)	11	1980	+		Lung NSC(277;0.239)	543					B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Silent	SNP	ENST00000234701.3	37	c.1629A>T	CCDS709.1																																																																																				0.443	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285		16	23	0	0	0	1	0	16	23				
OR9G1	390174	broad.mit.edu	37	11	56468348	56468348	+	Missense_Mutation	SNP	C	C	T	rs543443299		TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr11:56468348C>T	ENST00000312153.1	+	1	485	c.485C>T	c.(484-486)aCg>aTg	p.T162M		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						ACCAAGAAAACGTTTTCCTTT	0.448													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21535	0.0		0.0	False		,,,				2504	0.0					ENST00000312153.1																			0				breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(484-486)aCg>aTg		olfactory receptor, family 9, subfamily G, member 1							170.0	162.0	165.0					11																	56468348		2201	4296	6497	SO:0001583	missense	390174							g.chr11:56468348C>T	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.485C>T	11.37:g.56468348C>T	ENSP00000309012:p.Thr162Met						p.T162M	NM_001005213.1	NP_001005213.1					1	485	+								Q6IEU9|Q8NGQ0	Missense_Mutation	SNP	ENST00000312153.1	37	c.485C>T	CCDS31536.1	.	.	.	.	.	.	.	.	.	.	C	7.085	0.571029	0.13623	.	.	ENSG00000174914	ENST00000312153	T	0.00265	8.39	4.52	1.18	0.20946	GPCR, rhodopsin-like superfamily (1);	0.242889	0.29565	N	0.011796	T	0.00300	0.0009	L	0.42245	1.32	0.09310	N	1	D	0.76494	0.999	D	0.72338	0.977	T	0.54846	-0.8232	10	0.23891	T	0.37	-1.4606	8.2429	0.31671	0.0:0.5193:0.0:0.4807	.	162	Q8NH87	OR9G1_HUMAN	M	162	ENSP00000309012:T162M	ENSP00000309012:T162M	T	+	2	0	OR9G1	56224924	0.000000	0.05858	0.006000	0.13384	0.107000	0.19398	-1.086000	0.03386	0.115000	0.18071	-0.242000	0.12053	ACG		0.448	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		5	156	0	0	0	1	0	5	156				
ZP4	57829	broad.mit.edu	37	1	238050813	238050813	+	Missense_Mutation	SNP	C	C	T	rs141095443	byFrequency	TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr1:238050813C>T	ENST00000366570.4	-	5	760	c.602G>A	c.(601-603)cGg>cAg	p.R201Q	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	201	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GGTCACGTTCCGAGACACAGC	0.532													C|||	4	0.000798722	0.0023	0.0014	5008	,	,		22801	0.0		0.0	False		,,,				2504	0.0				NSCLC(166;160 2029 11600 18754 19936)	ENST00000366570.4																			0				breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(601-603)cGg>cAg		zona pellucida glycoprotein 4		C	GLN/ARG	16,4390	22.3+/-47.3	0,16,2187	140.0	124.0	129.0		602	2.8	0.9	1	dbSNP_134	129	0,8600		0,0,4300	yes	missense	ZP4	NM_021186.3	43	0,16,6487	TT,TC,CC		0.0,0.3631,0.123	possibly-damaging	201/541	238050813	16,12990	2203	4300	6503	SO:0001583	missense	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238050813C>T	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.602G>A	1.37:g.238050813C>T	ENSP00000355529:p.Arg201Gln					RP11-193H5.1_ENST00000450451.1_RNA	p.R201Q	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	760	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	201			ZP.		B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	c.602G>A	CCDS1615.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	13.30	2.195848	0.38806	0.003631	0.0	ENSG00000116996	ENST00000366570	D	0.82526	-1.62	4.86	2.81	0.32909	Zona pellucida sperm-binding protein (3);	0.149436	0.41500	D	0.000866	T	0.76378	0.3979	L	0.56396	1.775	0.28751	N	0.90145	B	0.32128	0.357	B	0.34301	0.179	T	0.67768	-0.5585	10	0.40728	T	0.16	-18.2754	4.76	0.13102	0.0:0.4404:0.0:0.5596	.	201	Q12836	ZP4_HUMAN	Q	201	ENSP00000355529:R201Q	ENSP00000355529:R201Q	R	-	2	0	ZP4	236117436	0.000000	0.05858	0.891000	0.34965	0.787000	0.44495	-0.322000	0.08007	0.458000	0.26988	0.655000	0.94253	CGG		0.532	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			21	77	0	0	0	1	0	21	77				
GHR	2690	broad.mit.edu	37	5	42718951	42718951	+	Missense_Mutation	SNP	G	G	A	rs371198233		TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr5:42718951G>A	ENST00000230882.4	+	10	1532	c.1342G>A	c.(1342-1344)Gtt>Att	p.V448I	GHR_ENST00000357703.3_Missense_Mutation_p.V426I|GHR_ENST00000537449.1_Missense_Mutation_p.V261I	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	448					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GCAGCCCAGTGTTATCCAAGC	0.448																																						ENST00000230882.4																			0				NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(1342-1344)Gtt>Att		growth hormone receptor	Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						71.0	64.0	66.0					5																	42718951		2203	4300	6503	SO:0001583	missense	2690				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding	g.chr5:42718951G>A		CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"""Fibronectin type III domain containing"""	4263	protein-coding gene	gene with protein product	"""growth hormone binding protein"""	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.1342G>A	5.37:g.42718951G>A	ENSP00000230882:p.Val448Ile					GHR_ENST00000537449.1_Missense_Mutation_p.V261I|GHR_ENST00000357703.3_Missense_Mutation_p.V426I	p.V448I	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN			10	1532	+		Myeloproliferative disorder(839;0.00878)	448					Q9HCX2	Missense_Mutation	SNP	ENST00000230882.4	37	c.1342G>A	CCDS3940.1	.	.	.	.	.	.	.	.	.	.	G	4.238	0.043106	0.08196	.	.	ENSG00000112964	ENST00000230882;ENST00000357703;ENST00000537449	D;D;T	0.84298	-1.83;-1.71;-0.71	6.0	3.25	0.37280	.	0.826297	0.11129	N	0.596582	T	0.77818	0.4187	L	0.39633	1.23	0.09310	N	1	B	0.12013	0.005	B	0.17979	0.02	T	0.60005	-0.7347	10	0.19590	T	0.45	-4.2202	8.7403	0.34554	0.3166:0.0:0.6834:0.0	.	448	P10912	GHR_HUMAN	I	448;426;261	ENSP00000230882:V448I;ENSP00000350335:V426I;ENSP00000442206:V261I	ENSP00000230882:V448I	V	+	1	0	GHR	42754708	0.001000	0.12720	0.001000	0.08648	0.661000	0.39034	0.830000	0.27462	0.423000	0.26033	0.591000	0.81541	GTT		0.448	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211605.2	NM_000163		22	66	0	0	0	1	0	22	66				
MGA	23269	broad.mit.edu	37	15	42005362	42005362	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr15:42005362C>T	ENST00000570161.1	+	8	3098	c.3098C>T	c.(3097-3099)aCt>aTt	p.T1033I	MGA_ENST00000566586.1_Missense_Mutation_p.T1033I|MGA_ENST00000545763.1_Missense_Mutation_p.T1033I|MGA_ENST00000389936.4_Missense_Mutation_p.T1033I|MGA_ENST00000219905.7_Missense_Mutation_p.T1033I			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCCCTCAAAACTAAACCTATC	0.448																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(3097-3099)aCt>aTt		MGA, MAX dimerization protein							134.0	129.0	131.0					15																	42005362		1934	4128	6062	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42005362C>T	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.3098C>T	15.37:g.42005362C>T	ENSP00000457035:p.Thr1033Ile					MGA_ENST00000570161.1_Missense_Mutation_p.T1033I|MGA_ENST00000545763.1_Missense_Mutation_p.T1033I|MGA_ENST00000389936.4_Missense_Mutation_p.T1033I|MGA_ENST00000566586.1_Missense_Mutation_p.T1033I	p.T1033I	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	9	3279	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	1033					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.3098C>T	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898176	0.72639	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	T;T;T	0.18338	2.22;2.22;2.22	5.86	4.95	0.65309	.	0.422389	0.26421	N	0.024461	T	0.20292	0.0488	L	0.27053	0.805	0.26986	N	0.96525	P;D	0.69078	0.462;0.997	B;P	0.59115	0.103;0.852	T	0.08953	-1.0697	10	0.87932	D	0	.	4.9655	0.14089	0.2725:0.5415:0.1133:0.0727	.	1033;1033	F5H7K2;E7ENI0	.;.	I	1033	ENSP00000219905:T1033I;ENSP00000374586:T1033I;ENSP00000442467:T1033I	ENSP00000219905:T1033I	T	+	2	0	MGA	39792654	0.989000	0.36119	1.000000	0.80357	0.992000	0.81027	0.494000	0.22467	1.488000	0.48433	0.655000	0.94253	ACT		0.448	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		27	122	0	0	0	1	0	27	122				
CTNND1	1500	broad.mit.edu	37	11	57564168	57564168	+	Silent	SNP	T	T	C			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr11:57564168T>C	ENST00000399050.4	+	6	1196	c.660T>C	c.(658-660)ggT>ggC	p.G220G	CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000529526.1_Silent_p.G166G|CTNND1_ENST00000360682.6_Silent_p.G220G|CTNND1_ENST00000361796.4_Silent_p.G220G|CTNND1_ENST00000532844.1_Silent_p.G166G|CTNND1_ENST00000524630.1_Silent_p.G220G|CTNND1_ENST00000426142.2_Silent_p.G119G|CTNND1_ENST00000529873.1_Silent_p.G166G|CTNND1_ENST00000399039.4_Silent_p.G220G|CTNND1_ENST00000530748.1_Silent_p.G166G|CTNND1_ENST00000530094.1_Silent_p.G119G|CTNND1_ENST00000532649.1_Silent_p.G166G|CTNND1_ENST00000526938.1_Silent_p.G220G|CTNND1_ENST00000532463.1_Silent_p.G119G|CTNND1_ENST00000529986.1_Silent_p.G119G|CTNND1_ENST00000361391.6_Silent_p.G220G|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000526357.1_Silent_p.G166G|CTNND1_ENST00000528621.1_Silent_p.G166G|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000358694.6_Silent_p.G220G|CTNND1_ENST00000534579.1_Silent_p.G166G|CTNND1_ENST00000428599.2_Silent_p.G220G|CTNND1_ENST00000529919.1_Silent_p.G220G|CTNND1_ENST00000415361.2_Silent_p.G119G|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000361332.4_Silent_p.G220G|CTNND1_ENST00000532245.1_Silent_p.G119G|CTNND1_ENST00000528232.1_Silent_p.G119G|CTNND1_ENST00000532787.1_Silent_p.G119G	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	220					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				ATGAAGATGGTTATCCAGGTG	0.562																																						ENST00000524630.1																			0				breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45						c.(658-660)ggT>ggC		catenin (cadherin-associated protein), delta 1							107.0	114.0	112.0					11																	57564168		2164	4265	6429	SO:0001819	synonymous_variant	1500				adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding	g.chr11:57564168T>C	AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.660T>C	11.37:g.57564168T>C						CTNND1_ENST00000526357.1_Silent_p.G166G|CTNND1_ENST00000399039.4_Silent_p.G220G|CTNND1_ENST00000530094.1_Silent_p.G119G|CTNND1_ENST00000428599.2_Silent_p.G220G|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000532463.1_Silent_p.G119G|CTNND1_ENST00000526938.1_Silent_p.G220G|CTNND1_ENST00000534579.1_Silent_p.G166G|CTNND1_ENST00000415361.2_Silent_p.G119G|CTNND1_ENST00000361391.6_Silent_p.G220G|CTNND1_ENST00000361332.4_Silent_p.G220G|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000532245.1_Silent_p.G119G|CTNND1_ENST00000528232.1_Silent_p.G119G|CTNND1_ENST00000426142.2_Silent_p.G119G|CTNND1_ENST00000361796.4_Silent_p.G220G|CTNND1_ENST00000529986.1_Silent_p.G119G|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000360682.6_Silent_p.G220G|CTNND1_ENST00000358694.6_Silent_p.G220G|CTNND1_ENST00000529873.1_Silent_p.G166G|CTNND1_ENST00000399050.4_Silent_p.G220G|CTNND1_ENST00000532787.1_Silent_p.G119G|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000529526.1_Silent_p.G166G|CTNND1_ENST00000530748.1_Silent_p.G166G|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000532649.1_Silent_p.G166G|CTNND1_ENST00000532844.1_Silent_p.G166G|CTNND1_ENST00000528621.1_Silent_p.G166G|CTNND1_ENST00000529919.1_Silent_p.G220G	p.G220G			O60716	CTND1_HUMAN			6	1173	+		all_epithelial(135;0.155)	220					A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Silent	SNP	ENST00000399050.4	37	c.660T>C	CCDS44604.1																																																																																				0.562	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1	NM_001331		33	109	0	0	0	1	0	33	109				
CYP4F11	57834	broad.mit.edu	37	19	16038092	16038092	+	De_novo_Start_OutOfFrame	SNP	G	G	A	rs145564844		TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr19:16038092G>A	ENST00000591841.1	-	0	739				CYP4F11_ENST00000326742.8_Missense_Mutation_p.T152M|CYP4F11_ENST00000402119.4_Missense_Mutation_p.T152M|CYP4F11_ENST00000248041.8_Missense_Mutation_p.T152M					cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GAAGGCAGGCGTCAACATCCG	0.552													.|||	1	0.000199681	0.0008	0.0	5008	,	,		20863	0.0		0.0	False		,,,				2504	0.0					ENST00000326742.7																			0				NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						c.(454-456)aCg>aTg		cytochrome P450, family 4, subfamily F, polypeptide 11		G	MET/THR,MET/THR	3,4403	6.2+/-15.9	0,3,2200	93.0	89.0	90.0		455,455	2.6	1.0	19	dbSNP_134	90	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CYP4F11	NM_001128932.1,NM_021187.3	81,81	0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308	possibly-damaging,possibly-damaging	152/525,152/525	16038092	4,13002	2203	4300	6503			57834				inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr19:16038092G>A	AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"""Cytochrome P450s"""	13265	protein-coding gene	gene with protein product		611517	"""cytochrome P450, subfamily IVF, polypeptide 11"""			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000591841.1:c.-399C>T	19.37:g.16038092G>A						CYP4F11_ENST00000402119.3_Missense_Mutation_p.T152M|CYP4F11_ENST00000248041.7_Missense_Mutation_p.T152M	p.T152M			Q9HBI6	CP4FB_HUMAN			4	456	-			152						Missense_Mutation	SNP	ENST00000591841.1	37	c.455C>T		.	.	.	.	.	.	.	.	.	.	g	12.10	1.835308	0.32421	6.81E-4	1.16E-4	ENSG00000171903	ENST00000402119;ENST00000248041;ENST00000326742	T;T;T	0.70631	-0.5;-0.5;-0.5	2.57	2.57	0.30868	.	0.000000	0.64402	U	0.000001	D	0.88040	0.6330	H	0.98276	4.19	0.54753	D	0.999988	D;D	0.71674	0.995;0.998	D;P	0.64687	0.928;0.906	D	0.90633	0.4568	10	0.72032	D	0.01	.	10.8988	0.47038	0.0:0.0:1.0:0.0	.	152;152	F8W978;Q9HBI6	.;CP4FB_HUMAN	M	152	ENSP00000384588:T152M;ENSP00000248041:T152M;ENSP00000319859:T152M	ENSP00000248041:T152M	T	-	2	0	CYP4F11	15899092	1.000000	0.71417	0.995000	0.50966	0.022000	0.10575	6.365000	0.73090	1.435000	0.47434	0.298000	0.19748	ACG		0.552	CYP4F11-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460384.2	NM_021187		15	133	0	0	0	1	0	15	133				
COL7A1	1294	broad.mit.edu	37	3	48602392	48602392	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr3:48602392T>C	ENST00000328333.8	-	117	8749	c.8642A>G	c.(8641-8643)gAt>gGt	p.D2881G	UCN2_ENST00000273610.3_5'Flank|COL7A1_ENST00000470076.1_5'UTR|COL7A1_ENST00000454817.1_Missense_Mutation_p.D2849G	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2881	BPTI/Kunitz inhibitor. {ECO:0000255|PROSITE-ProRule:PRU00031}.|Nonhelical region (NC2).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGAGCCCTCATCCAGTGGCAG	0.612																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(8641-8643)gAt>gGt		collagen, type VII, alpha 1							73.0	74.0	74.0					3																	48602392		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48602392T>C	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.8642A>G	3.37:g.48602392T>C	ENSP00000332371:p.Asp2881Gly					COL7A1_ENST00000470076.1_5'UTR|COL7A1_ENST00000454817.1_Missense_Mutation_p.D2849G	p.D2881G	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	117	8749	-			2881			BPTI/Kunitz inhibitor.|Nonhelical region (NC2).		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.8642A>G	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	T	12.26	1.885505	0.33255	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	T;T	0.61040	0.14;0.14	5.25	5.25	0.73442	Proteinase inhibitor I2, Kunitz metazoa (5);	0.144445	0.30742	N	0.008976	T	0.75034	0.3795	M	0.81179	2.53	0.39309	D	0.965045	D	0.76494	0.999	D	0.72338	0.977	T	0.76266	-0.3022	10	0.31617	T	0.26	.	13.996	0.64402	0.0:0.0:0.0:1.0	.	2881	Q02388	CO7A1_HUMAN	G	2881;2849	ENSP00000332371:D2881G;ENSP00000412569:D2849G	ENSP00000332371:D2881G	D	-	2	0	COL7A1	48577396	1.000000	0.71417	0.998000	0.56505	0.761000	0.43186	4.325000	0.59234	2.000000	0.58554	0.383000	0.25322	GAT		0.612	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		4	81	0	0	0	1	0	4	81				
B9D1	27077	broad.mit.edu	37	17	19251097	19251097	+	Splice_Site	SNP	C	C	T			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr17:19251097C>T	ENST00000261499.4	-	4	484	c.341G>A	c.(340-342)cGg>cAg	p.R114Q	B9D1_ENST00000477478.2_Splice_Site_p.G90S|B9D1_ENST00000268841.6_Splice_Site_p.R114Q|B9D1_ENST00000461069.2_Splice_Site_p.R114Q|B9D1_ENST00000575403.1_Splice_Site_p.G90S|B9D1_ENST00000395615.1_Splice_Site_p.R114Q|B9D1_ENST00000395616.3_Splice_Site_p.R114Q	NM_015681.3	NP_056496.1	Q9UPM9	B9D1_HUMAN	B9 protein domain 1	114	B9. {ECO:0000255|PROSITE- ProRule:PRU00713}.				camera-type eye development (GO:0043010)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|in utero embryonic development (GO:0001701)|neuroepithelial cell differentiation (GO:0060563)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)|vasculature development (GO:0001944)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)	hedgehog receptor activity (GO:0008158)			large_intestine(3)|urinary_tract(1)	4	all_cancers(12;2.04e-05)|all_epithelial(12;0.000806)|Hepatocellular(7;0.00345)|Breast(13;0.143)					GAGGACCTACCGGCCAGGTGA	0.587																																						ENST00000477478.2																			0				large_intestine(3)|urinary_tract(1)	4						c.e4+1		B9 protein domain 1							81.0	55.0	64.0					17																	19251097		2203	4300	6503	SO:0001630	splice_region_variant	27077				cilium assembly	centrosome|microtubule basal body	protein binding	g.chr17:19251097C>T	BC002944	CCDS11205.1, CCDS58528.1	17p11.2	2014-09-17			ENSG00000108641	ENSG00000108641			24123	protein-coding gene	gene with protein product	"""endothelial precursor protein B9"""	614144				21493627	Standard	NM_015681		Approved	B9, EPPB9, MKS9	uc010vyr.2	Q9UPM9	OTTHUMG00000059586	ENST00000261499.4:c.341+1G>A	17.37:g.19251097C>T						B9D1_ENST00000268841.6_Splice_Site_p.R114_splice|B9D1_ENST00000575403.1_Splice_Site_p.G90_splice|B9D1_ENST00000461069.2_Splice_Site_p.R114_splice|B9D1_ENST00000395616.3_Splice_Site_p.R114_splice|B9D1_ENST00000395615.1_Splice_Site_p.R114_splice|B9D1_ENST00000261499.4_Splice_Site_p.R114_splice	p.G90_splice			Q9UPM9	B9D1_HUMAN			4	601	-	all_cancers(12;2.04e-05)|all_epithelial(12;0.000806)|Hepatocellular(7;0.00345)|Breast(13;0.143)		0			B9.		Q9BU22	Splice_Site	SNP	ENST00000261499.4	37	c.268_splice	CCDS11205.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.998423	0.54147	.	.	ENSG00000108641	ENST00000395615;ENST00000261499;ENST00000395616;ENST00000268841;ENST00000440841	T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4	5.43	5.43	0.79202	.	0.222293	0.45867	D	0.000324	T	0.50667	0.1629	L	0.29908	0.895	0.47819	D	0.999524	B	0.24823	0.112	B	0.18561	0.022	T	0.45673	-0.9245	9	.	.	.	.	10.2721	0.43489	0.0:0.9094:0.0:0.0906	.	114	Q9UPM9	B9D1_HUMAN	Q	114;114;114;114;105	ENSP00000378977:R114Q;ENSP00000261499:R114Q;ENSP00000378978:R114Q;ENSP00000268841:R114Q;ENSP00000410835:R105Q	.	R	-	2	0	B9D1	19191690	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.943000	0.56621	2.536000	0.85505	0.561000	0.74099	CGG		0.587	B9D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132494.1	NM_015681	Missense_Mutation	8	32	0	0	0	1	0	8	32				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			45	70	0	0	0	1	0	45	70				
AKNA	80709	broad.mit.edu	37	9	117106023	117106023	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr9:117106023C>G	ENST00000307564.4	-	19	3883	c.3722G>C	c.(3721-3723)tGt>tCt	p.C1241S	AKNA_ENST00000374075.5_Missense_Mutation_p.C1160S|AKNA_ENST00000223791.3_Missense_Mutation_p.C701S|AKNA_ENST00000374079.4_Missense_Mutation_p.C186S|AKNA_ENST00000374088.3_Missense_Mutation_p.C1241S|AKNA_ENST00000492875.1_5'UTR	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1241					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GCAGTGGGGACAGGAGACTGT	0.587																																						ENST00000307564.4																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						c.(3721-3723)tGt>tCt		AT-hook transcription factor							87.0	83.0	84.0					9																	117106023		2203	4300	6503	SO:0001583	missense	80709				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:117106023C>G	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.3722G>C	9.37:g.117106023C>G	ENSP00000303769:p.Cys1241Ser					AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000374075.5_Missense_Mutation_p.C1160S|AKNA_ENST00000374079.4_Missense_Mutation_p.C186S|AKNA_ENST00000374088.3_Missense_Mutation_p.C1241S|AKNA_ENST00000223791.3_Missense_Mutation_p.C701S	p.C1241S	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN			19	3883	-			1241					Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	ENST00000307564.4	37	c.3722G>C	CCDS6805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.85|15.85	2.953693|2.953693	0.53293|0.53293	.|.	.|.	ENSG00000106948|ENSG00000106948	ENST00000307564;ENST00000374079;ENST00000374088;ENST00000223791;ENST00000374075|ENST00000320310	T;T;T;T;T|.	0.53206|.	0.93;1.02;0.93;0.63;0.88|.	4.06|4.06	4.06|4.06	0.47325|0.47325	.|.	0.000000|.	0.64402|.	D|.	0.000009|.	T|T	0.66636|0.66636	0.2809|0.2809	M|M	0.71581|0.71581	2.175|2.175	0.36497|0.36497	D|D	0.8688|0.8688	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.994;0.998|.	T|T	0.70561|0.70561	-0.4838|-0.4838	10|6	0.66056|0.36615	D|T	0.02|0.2	-10.3868|-10.3868	12.1362|12.1362	0.53972|0.53972	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1241;1160|.	Q7Z591;Q7Z591-2|.	AKNA_HUMAN;.|.	S|L	1241;186;1241;701;1160|252	ENSP00000303769:C1241S;ENSP00000363192:C186S;ENSP00000363201:C1241S;ENSP00000223791:C701S;ENSP00000363188:C1160S|.	ENSP00000223791:C701S|ENSP00000314538:V252L	C|V	-|-	2|1	0|0	AKNA|AKNA	116145844|116145844	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.367000|0.367000	0.29736|0.29736	2.974000|2.974000	0.49272|0.49272	2.568000|2.568000	0.86640|0.86640	0.650000|0.650000	0.86243|0.86243	TGT|GTC		0.587	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		6	57	0	0	0	1	0	6	57				
MDH1B	130752	broad.mit.edu	37	2	207621661	207621661	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr2:207621661A>G	ENST00000374412.3	-	4	649	c.374T>C	c.(373-375)cTg>cCg	p.L125P	MDH1B_ENST00000449792.1_Missense_Mutation_p.L27P|MDH1B_ENST00000392214.2_Missense_Mutation_p.L125P|MDH1B_ENST00000454776.2_Missense_Mutation_p.L125P	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	125					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		GCAAGTTTTCAGGGCTTCTTC	0.428																																					Pancreas(76;29 1355 28675 37177 51207)	ENST00000374412.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34						c.(373-375)cTg>cCg		malate dehydrogenase 1B, NAD (soluble)							115.0	105.0	109.0					2																	207621661		2203	4300	6503	SO:0001583	missense	130752				carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity	g.chr2:207621661A>G		CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.374T>C	2.37:g.207621661A>G	ENSP00000363533:p.Leu125Pro					MDH1B_ENST00000392214.2_Missense_Mutation_p.L125P|MDH1B_ENST00000454776.2_Missense_Mutation_p.L125P|MDH1B_ENST00000449792.1_Missense_Mutation_p.L27P	p.L125P	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)	4	649	-			125					A8K8M1|Q53TK9|Q8IV51	Missense_Mutation	SNP	ENST00000374412.3	37	c.374T>C	CCDS33365.1	.	.	.	.	.	.	.	.	.	.	A	11.82	1.753793	0.31046	.	.	ENSG00000138400	ENST00000374412;ENST00000449792;ENST00000454776;ENST00000392214	T;T;T;T	0.61392	0.11;0.81;0.11;0.11	6.08	-0.973	0.10297	.	0.849924	0.10644	N	0.650714	T	0.46776	0.1410	L	0.56769	1.78	0.09310	N	0.999994	B;B	0.31274	0.317;0.212	B;B	0.30572	0.117;0.055	T	0.46610	-0.9179	10	0.72032	D	0.01	-1.3419	2.9275	0.05788	0.4757:0.2441:0.0621:0.2182	.	125;125	Q5I0G3-2;Q5I0G3	.;MDH1B_HUMAN	P	125;27;125;125	ENSP00000363533:L125P;ENSP00000416577:L27P;ENSP00000389916:L125P;ENSP00000376049:L125P	ENSP00000363533:L125P	L	-	2	0	MDH1B	207329906	0.000000	0.05858	0.003000	0.11579	0.017000	0.09413	0.111000	0.15458	-0.072000	0.12864	0.533000	0.62120	CTG		0.428	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2	NM_001039845		16	89	0	0	0	1	0	16	89				
EIF4A1	1973	broad.mit.edu	37	17	7476160	7476160	+	Start_Codon_SNP	SNP	A	A	C			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr17:7476160A>C	ENST00000293831.8	+	1	17	c.1A>C	c.(1-3)Atg>Ctg	p.M1L	SNORA48_ENST00000386847.1_RNA|EIF4A1_ENST00000577269.1_Start_Codon_SNP_p.M1L|SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000380512.5_5'UTR|EIF4A1_ENST00000582746.1_Start_Codon_SNP_p.M1L	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	1					cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						TCTAAGGATCATGTCTGCGAG	0.627																																					Melanoma(120;278 1668 15796 27423 46368)	ENST00000293831.8																			0				NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						c.(1-3)Atg>Ctg		eukaryotic translation initiation factor 4A1							115.0	118.0	117.0					17																	7476160		2203	4300	6503	SO:0001582	initiator_codon_variant	1973				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity	g.chr17:7476160A>C	D13748	CCDS11113.1, CCDS58511.1	17p13	2012-02-23	2010-02-10		ENSG00000161960	ENSG00000161960		"""DEAD-boxes"""	3282	protein-coding gene	gene with protein product		602641	"""eukaryotic translation initiation factor 4A, isoform 1"""	EIF4A		8493113, 9790779	Standard	NM_001416		Approved	DDX2A, EIF-4A		P60842	OTTHUMG00000108149	ENST00000293831.8:c.1A>C	17.37:g.7476160A>C	ENSP00000293831:p.Met1Leu					EIF4A1_ENST00000582746.1_Start_Codon_SNP_p.M1L|SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000577269.1_Start_Codon_SNP_p.M1L|EIF4A1_ENST00000380512.5_5'UTR	p.M1L	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN			1	17	+			1					B2R6L8|D3DTP9|J3QLC4|P04765|Q5U018|Q61516	Translation_Start_Site	SNP	ENST00000293831.8	37	c.1A>C	CCDS11113.1	.	.	.	.	.	.	.	.	.	.	A	16.92	3.256104	0.59321	.	.	ENSG00000161960	ENST00000293831	T	0.22539	1.95	5.01	5.01	0.66863	.	.	.	.	.	T	0.18964	0.0455	.	.	.	0.80722	D	1	B;B;B	0.12630	0.002;0.006;0.004	B;B;B	0.10450	0.003;0.005;0.002	T	0.03202	-1.1061	8	0.87932	D	0	-35.7219	11.0276	0.47753	1.0:0.0:0.0:0.0	.	1;1;1	A8K7F6;A8K088;P60842	.;.;IF4A1_HUMAN	L	1	ENSP00000293831:M1L	ENSP00000293831:M1L	M	+	1	0	EIF4A1	7416884	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.278000	0.58946	2.096000	0.63516	0.528000	0.53228	ATG		0.627	EIF4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226952.6	NM_001416	Missense_Mutation	29	211	0	0	0	1	0	29	211				
SCN4A	6329	broad.mit.edu	37	17	62045570	62045570	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr17:62045570C>T	ENST00000435607.1	-	6	925	c.849G>A	c.(847-849)tgG>tgA	p.W283*	SCN4A_ENST00000578147.1_Nonsense_Mutation_p.W283*	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	283					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACGGCGGGGGCCAGCGCACAC	0.547																																						ENST00000578147.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(847-849)tgG>tgA		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						157.0	161.0	160.0					17																	62045570		2177	4278	6455	SO:0001587	stop_gained	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62045570C>T	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.849G>A	17.37:g.62045570C>T	ENSP00000396320:p.Trp283*					SCN4A_ENST00000435607.1_Nonsense_Mutation_p.W283*	p.W283*			P35499	SCN4A_HUMAN			6	925	-			283					Q15478|Q16447|Q7Z6B1	Nonsense_Mutation	SNP	ENST00000435607.1	37	c.849G>A	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	C	38	6.804615	0.97849	.	.	ENSG00000007314	ENST00000435607	.	.	.	5.21	5.21	0.72293	.	0.245745	0.45361	D	0.000375	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.9347	0.89009	0.0:1.0:0.0:0.0	.	.	.	.	X	283	.	ENSP00000396320:W283X	W	-	3	0	SCN4A	59399302	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	4.422000	0.59854	2.717000	0.92951	0.655000	0.94253	TGG		0.547	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		6	140	0	0	0	1	0	6	140				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		4	47	0	0	0	1	0	4	47				
CENPE	1062	broad.mit.edu	37	4	104066385	104066385	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr4:104066385T>C	ENST00000265148.3	-	32	4768	c.4679A>G	c.(4678-4680)aAg>aGg	p.K1560R	CENPE_ENST00000380026.3_Missense_Mutation_p.K1535R	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1560					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGCTGAATCCTTGGCTTTGCG	0.333																																						ENST00000265148.3																			0				NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.(4678-4680)aAg>aGg		centromere protein E, 312kDa							139.0	127.0	131.0					4																	104066385		2203	4298	6501	SO:0001583	missense	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104066385T>C	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.4679A>G	4.37:g.104066385T>C	ENSP00000265148:p.Lys1560Arg					CENPE_ENST00000380026.3_Missense_Mutation_p.K1535R	p.K1560R	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	32	4768	-			1560					A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	c.4679A>G	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	T	8.116	0.779842	0.16120	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.70631	-0.4;-0.5	4.34	3.16	0.36331	.	.	.	.	.	T	0.70168	0.3193	L	0.39397	1.21	0.09310	N	1	D;D	0.63880	0.986;0.993	P;P	0.58520	0.793;0.84	T	0.56715	-0.7933	9	0.37606	T	0.19	.	5.7077	0.17917	0.0:0.2119:0.0:0.7881	.	1535;1560	Q02224-3;Q02224	.;CENPE_HUMAN	R	1560;1560;1535	ENSP00000265148:K1560R;ENSP00000369365:K1535R	ENSP00000265148:K1560R	K	-	2	0	CENPE	104285834	0.001000	0.12720	0.002000	0.10522	0.018000	0.09664	-0.001000	0.12947	0.707000	0.31934	0.448000	0.29417	AAG		0.333	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				20	78	0	0	0	1	0	20	78				
ATR	545	broad.mit.edu	37	3	142281276	142281276	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr3:142281276T>C	ENST00000350721.4	-	4	1089	c.968A>G	c.(967-969)gAa>gGa	p.E323G	ATR_ENST00000383101.3_Missense_Mutation_p.E323G	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	323					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						ACAGAGTTTTTCCAGCAGCAT	0.368								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(967-969)gAa>gGa	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							80.0	86.0	84.0					3																	142281276		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142281276T>C	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.968A>G	3.37:g.142281276T>C	ENSP00000343741:p.Glu323Gly					ATR_ENST00000383101.3_Missense_Mutation_p.E323G	p.E323G	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			4	1089	-			323					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.968A>G	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.998346	0.74818	.	.	ENSG00000175054	ENST00000350721;ENST00000383101;ENST00000515149	T;T	0.66638	-0.22;-0.22	5.24	5.24	0.73138	Armadillo-like helical (1);Armadillo-type fold (1);	0.109676	0.64402	D	0.000011	T	0.73094	0.3543	L	0.29908	0.895	0.30661	N	0.75435	D	0.76494	0.999	D	0.80764	0.994	T	0.75323	-0.3358	10	0.87932	D	0	-12.4333	15.1229	0.72460	0.0:0.0:0.0:1.0	.	323	Q13535	ATR_HUMAN	G	323;323;4	ENSP00000343741:E323G;ENSP00000372581:E323G	ENSP00000343741:E323G	E	-	2	0	ATR	143763966	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.552000	0.60747	1.978000	0.57642	0.482000	0.46254	GAA		0.368	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		12	114	0	0	0	1	0	12	114				
FCN3	8547	broad.mit.edu	37	1	27697141	27697141	+	Missense_Mutation	SNP	C	C	T	rs200179996		TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr1:27697141C>T	ENST00000270879.4	-	7	609	c.604G>A	c.(604-606)Ggt>Agt	p.G202S	FCN3_ENST00000354982.2_Missense_Mutation_p.G191S	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3	202	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TCTACCTCACCGAGGAGGCGG	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		18996	0.001		0.0	False		,,,				2504	0.0					ENST00000270879.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7						c.(604-606)Ggt>Agt		ficolin (collagen/fibrinogen domain containing) 3							133.0	133.0	133.0					1																	27697141		2203	4300	6503	SO:0001583	missense	8547				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding	g.chr1:27697141C>T	D88587	CCDS300.1, CCDS301.1	1p36.11	2014-09-17	2013-09-12		ENSG00000142748	ENSG00000142748		"""Fibrinogen C domain containing"""	3625	protein-coding gene	gene with protein product	"""Hakata antigen"""	604973	"""ficolin (collagen/fibrinogen domain-containing) 3 (Hakata antigen)"""			9694814, 10330454	Standard	NM_003665		Approved	FCNH, HAKA1	uc001boa.3	O75636	OTTHUMG00000005722	ENST00000270879.4:c.604G>A	1.37:g.27697141C>T	ENSP00000270879:p.Gly202Ser					FCN3_ENST00000354982.2_Missense_Mutation_p.G191S	p.G202S	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	7	609	-		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	202			Fibrinogen C-terminal.		Q6IBJ5|Q8WW86	Missense_Mutation	SNP	ENST00000270879.4	37	c.604G>A	CCDS300.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	11.23	1.578434	0.28180	.	.	ENSG00000142748	ENST00000270879;ENST00000354982;ENST00000498393	T;T	0.18960	2.18;2.18	4.62	0.448	0.16614	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.48286	D	0.000186	T	0.06462	0.0166	N	0.04387	-0.21	0.09310	N	1	P;P	0.46578	0.805;0.88	B;B	0.39840	0.298;0.311	T	0.34329	-0.9833	10	0.12103	T	0.63	.	4.9767	0.14144	0.1513:0.5846:0.0:0.2642	.	191;202	Q6UXM4;O75636	.;FCN3_HUMAN	S	202;191;80	ENSP00000270879:G202S;ENSP00000347077:G191S	ENSP00000270879:G202S	G	-	1	0	FCN3	27569728	0.000000	0.05858	0.019000	0.16419	0.051000	0.14879	0.087000	0.14958	0.247000	0.21414	0.558000	0.71614	GGT		0.577	FCN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000015667.1			5	100	0	0	0	1	0	5	100				
SLC4A5	57835	broad.mit.edu	37	2	74477594	74477594	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr2:74477594G>A	ENST00000377634.4	-	17	1928	c.1529C>T	c.(1528-1530)cCa>cTa	p.P510L	SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.P510L|SLC4A5_ENST00000346834.4_Missense_Mutation_p.P510L|SLC4A5_ENST00000357822.5_Missense_Mutation_p.P510L|SLC4A5_ENST00000359484.4_Missense_Mutation_p.P446L|SLC4A5_ENST00000358683.4_Missense_Mutation_p.P446L|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000394019.2_Missense_Mutation_p.P510L|SLC4A5_ENST00000377632.1_Missense_Mutation_p.P510L					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GAAGTCACTTGGGAACCAGGG	0.527											OREG0014716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000394019.2																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1528-1530)cCa>cTa		solute carrier family 4 (sodium bicarbonate cotransporter), member 5							185.0	174.0	178.0					2																	74477594		2203	4300	6503	SO:0001583	missense	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74477594G>A	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.1529C>T	2.37:g.74477594G>A	ENSP00000366861:p.Pro510Leu		OREG0014716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1153	SLC4A5_ENST00000359484.4_Missense_Mutation_p.P446L|SLC4A5_ENST00000357822.5_Missense_Mutation_p.P510L|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000358683.4_Missense_Mutation_p.P446L|SLC4A5_ENST00000346834.4_Missense_Mutation_p.P510L|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.P510L|SLC4A5_ENST00000377632.1_Missense_Mutation_p.P510L|SLC4A5_ENST00000377634.4_Missense_Mutation_p.P510L	p.P510L	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN			17	1926	-			510						Missense_Mutation	SNP	ENST00000377634.4	37	c.1529C>T	CCDS1936.1	.	.	.	.	.	.	.	.	.	.	G	4.551	0.102225	0.08731	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000423644;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634;ENST00000425249	T;T;T;T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	5.54	-0.0926	0.13656	Bicarbonate transporter, C-terminal (1);	0.582590	0.19781	N	0.106207	T	0.48466	0.1501	N	0.04636	-0.2	0.44635	D	0.997617	B;B;B;B;B	0.06786	0.0;0.001;0.0;0.0;0.0	B;B;B;B;B	0.12156	0.001;0.007;0.003;0.003;0.002	T	0.37934	-0.9684	10	0.06236	T	0.91	.	9.0447	0.36338	0.4809:0.0:0.5191:0.0	.	510;510;446;510;510	Q9BY07-4;E7EQT3;Q9BY07-7;Q9BY07;Q9BY07-3	.;.;.;S4A5_HUMAN;.	L	510;510;510;446;510;446;510;510;510;510	ENSP00000377587:P510L;ENSP00000251768:P510L;ENSP00000352461:P446L;ENSP00000395804:P510L;ENSP00000351513:P446L;ENSP00000350475:P510L;ENSP00000366859:P510L;ENSP00000366861:P510L;ENSP00000405678:P510L	ENSP00000251768:P510L	P	-	2	0	SLC4A5	74331102	0.891000	0.30450	0.950000	0.38849	0.999000	0.98932	1.314000	0.33597	-0.195000	0.10382	0.655000	0.94253	CCA		0.527	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			12	166	0	0	0	1	0	12	166				
ABCC10	89845	broad.mit.edu	37	6	43415432	43415432	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr6:43415432G>A	ENST00000372530.4	+	18	3931	c.3716G>A	c.(3715-3717)gGc>gAc	p.G1239D	ABCC10_ENST00000244533.3_Missense_Mutation_p.G1211D	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1239					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	CTGGGCACCGGCTGGCTGACC	0.632																																						ENST00000244533.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(3631-3633)gGc>gAc		ATP-binding cassette, sub-family C (CFTR/MRP), member 10							145.0	172.0	163.0					6																	43415432		2203	4298	6501	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43415432G>A	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.3716G>A	6.37:g.43415432G>A	ENSP00000361608:p.Gly1239Asp					ABCC10_ENST00000372530.4_Missense_Mutation_p.G1239D	p.G1211D	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		16	3991	+	all_lung(25;0.00536)		1239					Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.3632G>A	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	G	9.049	0.991602	0.18966	.	.	ENSG00000124574	ENST00000372530;ENST00000244533	D;D	0.90900	-2.74;-2.75	5.61	4.74	0.60224	.	0.479972	0.23496	N	0.047559	T	0.60327	0.2260	N	0.12746	0.255	0.34207	D	0.673873	B;B	0.11235	0.001;0.004	B;B	0.10450	0.005;0.004	T	0.51458	-0.8703	10	0.02654	T	1	-22.9541	5.3476	0.16018	0.2734:0.0:0.7266:0.0	.	1211;1239	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	D	1239;1211	ENSP00000361608:G1239D;ENSP00000244533:G1211D	ENSP00000244533:G1211D	G	+	2	0	ABCC10	43523410	0.921000	0.31238	0.967000	0.41034	0.517000	0.34286	1.539000	0.36104	2.641000	0.89580	0.591000	0.81541	GGC		0.632	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		6	357	0	0	0	1	0	6	357				
RNF43	54894	broad.mit.edu	37	17	56440939	56440939	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr17:56440939C>T	ENST00000584437.1	-	3	2353	c.398G>A	c.(397-399)gGa>gAa	p.G133E	BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Missense_Mutation_p.G6E|RNF43_ENST00000583753.1_Missense_Mutation_p.G92E|RNF43_ENST00000577625.1_Missense_Mutation_p.G6E|RNF43_ENST00000577716.1_Missense_Mutation_p.G133E|RNF43_ENST00000407977.2_Missense_Mutation_p.G133E|RNF43_ENST00000500597.2_Missense_Mutation_p.G92E			Q68DV7	RNF43_HUMAN	ring finger protein 43	133					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGCACTGGCTCCTCGCTCACC	0.612																																						ENST00000584437.1																			0				NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(397-399)gGa>gAa		ring finger protein 43							85.0	79.0	81.0					17																	56440939		2203	4300	6503	SO:0001583	missense	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56440939C>T		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.398G>A	17.37:g.56440939C>T	ENSP00000463069:p.Gly133Glu					BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000407977.2_Missense_Mutation_p.G133E|RNF43_ENST00000581868.1_Missense_Mutation_p.G6E|RNF43_ENST00000500597.2_Missense_Mutation_p.G92E|RNF43_ENST00000577625.1_Missense_Mutation_p.G6E|RNF43_ENST00000583753.1_Missense_Mutation_p.G92E|RNF43_ENST00000577716.1_Missense_Mutation_p.G133E	p.G133E			Q68DV7	RNF43_HUMAN			3	2353	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		133					A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	c.398G>A	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	C	34	5.342228	0.95783	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.17370	2.28;2.41	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.34424	0.0897	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.04840	-1.0923	10	0.87932	D	0	-6.1508	17.7398	0.88404	0.0:1.0:0.0:0.0	.	92;133;133	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	E	133;92	ENSP00000385328:G133E;ENSP00000441969:G92E	ENSP00000385328:G133E	G	-	2	0	RNF43	53795938	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.995000	0.76257	2.531000	0.85337	0.591000	0.81541	GGA		0.612	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		6	133	0	0	0	1	0	6	133				
C15orf39	56905	broad.mit.edu	37	15	75498581	75498581	+	Silent	SNP	G	G	A			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr15:75498581G>A	ENST00000360639.2	+	2	512	c.192G>A	c.(190-192)gcG>gcA	p.A64A	C15orf39_ENST00000394987.4_Silent_p.A64A|C15orf39_ENST00000567617.1_Silent_p.A64A			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	64						cytoplasm (GO:0005737)		p.A64A(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						AGCAGTTGGCGTCCTGGACCC	0.597																																						ENST00000360639.2																			1	Substitution - coding silent(1)	p.A64A(1)	endometrium(1)	autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						c.(190-192)gcG>gcA		chromosome 15 open reading frame 39							112.0	71.0	85.0					15																	75498581		2197	4295	6492	SO:0001819	synonymous_variant	56905							g.chr15:75498581G>A	AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 38~Name Same As HGNC:28782"""				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.192G>A	15.37:g.75498581G>A						C15orf39_ENST00000394987.4_Silent_p.A64A|C15orf39_ENST00000567617.1_Silent_p.A64A	p.A64A			Q6ZRI6	CO039_HUMAN			2	512	+			64					B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Silent	SNP	ENST00000360639.2	37	c.192G>A	CCDS10276.1																																																																																				0.597	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492		7	33	0	0	0	1	0	7	33				
ADH1A	124	broad.mit.edu	37	4	100208068	100208068	+	Silent	SNP	T	T	C			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr4:100208068T>C	ENST00000209668.2	-	3	311	c.198A>G	c.(196-198)ttA>ttG	p.L66L	ADH1A_ENST00000511656.1_5'UTR|RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	66					alcohol metabolic process (GO:0006066)|drug metabolic process (GO:0017144)|ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Ethanol(DB00898)|Fomepizole(DB01213)	CCTCATGGCCTAAAATCACAG	0.498																																						ENST00000209668.2																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25						c.(196-198)ttA>ttG		alcohol dehydrogenase 1A (class I), alpha polypeptide	Fomepizole(DB01213)|NADH(DB00157)						190.0	173.0	179.0					4																	100208068		2203	4300	6503	SO:0001819	synonymous_variant	124				ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding	g.chr4:100208068T>C	M12963	CCDS3648.1	4q23	2009-12-04			ENSG00000187758	ENSG00000187758	1.1.1.1	"""Alcohol dehydrogenases"""	249	protein-coding gene	gene with protein product		103700		ADH1		3006456	Standard	NM_000667		Approved		uc003hur.2	P07327	OTTHUMG00000131026	ENST00000209668.2:c.198A>G	4.37:g.100208068T>C						RP11-696N14.1_ENST00000500358.2_RNA|ADH1A_ENST00000511656.1_5'UTR	p.L66L	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	3	311	-			66					A8K3E3|Q17R68	Silent	SNP	ENST00000209668.2	37	c.198A>G	CCDS3648.1																																																																																				0.498	ADH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253669.1	NM_000667		4	220	0	0	0	1	0	4	220				
CYP2D6	1565	broad.mit.edu	37	22	42523567	42523567	+	Missense_Mutation	SNP	T	T	C	rs61736517	byFrequency	TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr22:42523567T>C	ENST00000360608.5	-	7	1169	c.1055A>G	c.(1054-1056)cAc>cGc	p.H352R	NDUFA6-AS1_ENST00000417327.1_RNA|CYP2D6_ENST00000389970.3_Missense_Mutation_p.H352R|NDUFA6-AS1_ENST00000434834.1_RNA|CYP2D6_ENST00000359033.4_Missense_Mutation_p.H301R|NDUFA6-AS1_ENST00000451451.1_RNA|NDUFA6-AS1_ENST00000595777.1_RNA|NDUFA6-AS1_ENST00000610250.1_RNA|NDUFA6-AS1_ENST00000536447.2_RNA|NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000600968.1_RNA|NDUFA6-AS1_ENST00000416037.2_RNA	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	352					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	GTAGGGCATGTGAGCCTGGTC	0.592																																						ENST00000360608.5																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1054-1056)cAc>cGc		cytochrome P450, family 2, subfamily D, polypeptide 6							99.0	76.0	84.0					22																	42523567		2203	4300	6503	SO:0001583	missense	1565						electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	g.chr22:42523567T>C	M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"""Cytochrome P450s"""	2625	protein-coding gene	gene with protein product		124030	"""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6"", ""cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2"", ""cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2"", ""cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2"", ""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"""	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.1055A>G	22.37:g.42523567T>C	ENSP00000353820:p.His352Arg					NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000416037.1_RNA|CYP2D6_ENST00000389970.3_Missense_Mutation_p.H352R|CYP2D6_ENST00000359033.4_Missense_Mutation_p.H301R	p.H352R	NM_000106.5	NP_000097.3	Q6NWU0	Q6NWU0_HUMAN			7	1169	-			352					Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Missense_Mutation	SNP	ENST00000360608.5	37	c.1055A>G	CCDS46721.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.874767	0.00542	.	.	ENSG00000100197	ENST00000360608;ENST00000389970;ENST00000413640;ENST00000359033;ENST00000542856	T;T;T	0.78003	-1.14;-1.14;5.16	4.93	-5.98	0.02220	.	0.762168	0.12266	N	0.484237	T	0.44371	0.1290	N	0.03209	-0.39	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.49799	-0.8901	10	0.02654	T	1	.	9.7516	0.40478	0.0989:0.2372:0.0:0.6639	.	352;301;352	C1ID54;Q6NXU8;Q6NWU0	.;.;.	R	352;352;298;301;301	ENSP00000353820:H352R;ENSP00000374620:H352R;ENSP00000351927:H301R	ENSP00000351927:H301R	H	-	2	0	CYP2D6	40853511	0.000000	0.05858	0.010000	0.14722	0.037000	0.13140	-0.542000	0.06091	-1.267000	0.02443	-1.442000	0.01069	CAC		0.592	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1			6	52	0	0	0	1	0	6	52				
UGT2B17	7367	broad.mit.edu	37	4	69403357	69403357	+	Nonsense_Mutation	SNP	T	T	A			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr4:69403357T>A	ENST00000317746.2	-	6	1621	c.1579A>T	c.(1579-1581)Aag>Tag	p.K527*		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	527					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30					Losartan(DB00678)	TCCCTTTTCTTCTTCTTTCCT	0.408																																					Melanoma(18;649 833 28984 37818 38500)	ENST00000317746.2																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						c.(1579-1581)Aag>Tag		UDP glucuronosyltransferase 2 family, polypeptide B17							85.0	82.0	83.0					4																	69403357		2118	4015	6133	SO:0001587	stop_gained	7367				steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69403357T>A	U59209	CCDS3523.1	4q13	2008-02-05	2005-07-20		ENSG00000197888	ENSG00000197888		"""UDP glucuronosyltransferases"""	12547	protein-coding gene	gene with protein product		601903	"""UDP glycosyltransferase 2 family, polypeptide B17"""			8798464	Standard	NM_001077		Approved		uc021xov.1	O75795	OTTHUMG00000129305	ENST00000317746.2:c.1579A>T	4.37:g.69403357T>A	ENSP00000320401:p.Lys527*						p.K527*	NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN			6	1621	-			527						Nonsense_Mutation	SNP	ENST00000317746.2	37	c.1579A>T	CCDS3523.1	.	.	.	.	.	.	.	.	.	.	T	17.23	3.337419	0.60963	.	.	ENSG00000197888	ENST00000317746	.	.	.	2.85	-1.56	0.08532	.	0.564547	0.15409	U	0.263906	.	.	.	.	.	.	0.09310	N	0.999991	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.762	0.08607	0.0:0.2597:0.1935:0.5467	.	.	.	.	X	527	.	ENSP00000320401:K527X	K	-	1	0	UGT2B17	69085952	0.000000	0.05858	0.038000	0.18304	0.173000	0.22820	-0.449000	0.06812	-0.037000	0.13646	0.164000	0.16699	AAG		0.408	UGT2B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251436.1	NM_001077		34	77	0	0	0	1	0	34	77				
MIER2	54531	broad.mit.edu	37	19	307470	307470	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr19:307470G>A	ENST00000264819.4	-	13	1275	c.1265C>T	c.(1264-1266)cCg>cTg	p.P422L	CTD-3113P16.5_ENST00000591533.1_RNA	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	422					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.P422L(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCGAGGACGGGAGTCCATC	0.662																																						ENST00000264819.4																			1	Substitution - Missense(1)	p.P422L(1)	endometrium(1)	endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1264-1266)cCg>cTg		mesoderm induction early response 1, family member 2							13.0	15.0	15.0					19																	307470		2202	4296	6498	SO:0001583	missense	54531				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr19:307470G>A	AB033019	CCDS32855.1	19p13.3	2008-02-05	2006-04-20	2006-04-20		ENSG00000105556			29210	protein-coding gene	gene with protein product			"""KIAA1193"""	KIAA1193		10574462	Standard	NM_017550		Approved		uc002lok.1	Q8N344		ENST00000264819.4:c.1265C>T	19.37:g.307470G>A	ENSP00000264819:p.Pro422Leu						p.P422L	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	13	1275	-		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)	422					Q9ULM7	Missense_Mutation	SNP	ENST00000264819.4	37	c.1265C>T	CCDS32855.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.373497	0.24857	.	.	ENSG00000105556	ENST00000264819	T	0.14766	2.48	3.66	0.207	0.15214	.	1.298600	0.05895	N	0.629008	T	0.07007	0.0178	N	0.08118	0	0.09310	N	1	B	0.27068	0.167	B	0.11329	0.006	T	0.36841	-0.9731	10	0.45353	T	0.12	-15.2333	7.0404	0.25017	0.3001:0.0:0.6999:0.0	.	422	Q8N344	MIER2_HUMAN	L	422	ENSP00000264819:P422L	ENSP00000264819:P422L	P	-	2	0	MIER2	258470	0.285000	0.24296	0.002000	0.10522	0.005000	0.04900	0.802000	0.27069	0.039000	0.15632	-0.251000	0.11542	CCG		0.662	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451784.1	XM_041843		4	11	0	0	0	1	0	4	11				
CEP83	51134	broad.mit.edu	37	12	94805603	94805603	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr12:94805603T>A	ENST00000397809.5	-	4	743	c.194A>T	c.(193-195)aAg>aTg	p.K65M	CCDC41_ENST00000397807.2_Missense_Mutation_p.K32M|CCDC41_ENST00000547575.1_Missense_Mutation_p.K65M|CCDC41_ENST00000339839.5_Missense_Mutation_p.K65M	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN		57					cilium assembly (GO:0042384)|protein localization to centrosome (GO:0071539)|vesicle docking (GO:0048278)	centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|Golgi apparatus (GO:0005794)				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						ATTTTGTAACTTTACATGTTC	0.318																																						ENST00000397809.5																			0				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						c.(193-195)aAg>aTg		coiled-coil domain containing 41							93.0	81.0	85.0					12																	94805603		1802	4070	5872	SO:0001583	missense	51134							g.chr12:94805603T>A																												ENST00000397809.5:c.194A>T	12.37:g.94805603T>A	ENSP00000380911:p.Lys65Met					CCDC41_ENST00000397807.2_Missense_Mutation_p.K32M|CCDC41_ENST00000547575.1_Missense_Mutation_p.K65M|CCDC41_ENST00000339839.5_Missense_Mutation_p.K65M	p.K65M	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN			4	743	-			57					A4FVB1|Q08AP1	Missense_Mutation	SNP	ENST00000397809.5	37	c.194A>T	CCDS41820.1	.	.	.	.	.	.	.	.	.	.	T	15.59	2.879841	0.51801	.	.	ENSG00000173588	ENST00000339839;ENST00000397809;ENST00000397807;ENST00000547575	T;T;T;T	0.64085	0.63;0.63;0.66;-0.08	4.86	4.86	0.63082	.	.	.	.	.	T	0.76169	0.3950	M	0.62723	1.935	0.39184	D	0.962833	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.98;0.999	T	0.80441	-0.1381	9	0.72032	D	0.01	-6.5828	14.4105	0.67113	0.0:0.0:0.0:1.0	.	65;32;57	F8VYN8;Q9Y592-2;Q9Y592	.;.;CCD41_HUMAN	M	65;65;32;65	ENSP00000344655:K65M;ENSP00000380911:K65M;ENSP00000380909:K32M;ENSP00000448913:K65M	ENSP00000344655:K65M	K	-	2	0	CCDC41	93329734	1.000000	0.71417	0.723000	0.30687	0.481000	0.33189	2.195000	0.42677	1.942000	0.56320	0.533000	0.62120	AAG		0.318	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408147.3			13	96	0	0	0	1	0	13	96				
DAAM1	23002	broad.mit.edu	37	14	59798010	59798010	+	Silent	SNP	C	C	A			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr14:59798010C>A	ENST00000395125.1	+	13	1667	c.1644C>A	c.(1642-1644)ctC>ctA	p.L548L	DAAM1_ENST00000351081.1_Silent_p.L548L|DAAM1_ENST00000360909.3_Silent_p.L548L	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	548	FH1.|Pro-rich.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CTGGATCTCTCCTTCCTCCCC	0.637																																						ENST00000395125.1																			0				breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(1642-1644)ctC>ctA		dishevelled associated activator of morphogenesis 1							73.0	75.0	74.0					14																	59798010		2203	4300	6503	SO:0001819	synonymous_variant	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59798010C>A	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.1644C>A	14.37:g.59798010C>A						DAAM1_ENST00000351081.1_Silent_p.L548L|DAAM1_ENST00000360909.3_Silent_p.L548L	p.L548L	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	13	1667	+			548			FH1.|Pro-rich.		Q86U34|Q8N1Z8|Q8TB39	Silent	SNP	ENST00000395125.1	37	c.1644C>A	CCDS9737.1																																																																																				0.637	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		39	43	1	0	3.54909e-21	1	3.76098e-21	39	43				
CAPZA3	93661	broad.mit.edu	37	12	18891211	18891211	+	Silent	SNP	T	T	A			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr12:18891211T>A	ENST00000317658.3	+	1	167	c.9T>A	c.(7-9)ctT>ctA	p.L3L	PLCZ1_ENST00000435379.1_5'Flank|PLCZ1_ENST00000266505.7_5'Flank|PLCZ1_ENST00000447925.2_5'Flank|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000539875.1_5'Flank	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	3					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cortical cytoskeleton (GO:0030863)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|nucleus (GO:0005634)|WASH complex (GO:0071203)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				ACATGACACTTAGCGTGCTGA	0.443																																						ENST00000317658.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19						c.(7-9)ctT>ctA		capping protein (actin filament) muscle Z-line, alpha 3							81.0	79.0	80.0					12																	18891211		2203	4299	6502	SO:0001819	synonymous_variant	93661				actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding	g.chr12:18891211T>A	AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938			24205	protein-coding gene	gene with protein product		608722				12029070	Standard	NM_033328		Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001	ENST00000317658.3:c.9T>A	12.37:g.18891211T>A							p.L3L	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN			1	167	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)	3					Q969J0	Silent	SNP	ENST00000317658.3	37	c.9T>A	CCDS8681.1																																																																																				0.443	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401902.1	NM_033328		22	89	0	0	0	1	0	22	89				
TNFSF14	8740	broad.mit.edu	37	19	6665024	6665024	+	Silent	SNP	C	C	T			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr19:6665024C>T	ENST00000599359.1	-	5	1017	c.636G>A	c.(634-636)ggG>ggA	p.G212G	TNFSF14_ENST00000245912.3_Silent_p.G176G|TNFSF14_ENST00000326176.9_Silent_p.G176G			O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	212					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of T cell chemotaxis (GO:0010820)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|receptor binding (GO:0005102)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						CCACCTTCTCCCCAGCCTCCA	0.627																																						ENST00000326176.9																			0				breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						c.(526-528)ggG>ggA		tumor necrosis factor (ligand) superfamily, member 14							133.0	112.0	119.0					19																	6665024		2203	4300	6503	SO:0001819	synonymous_variant	0				cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding	g.chr19:6665024C>T	AF036581	CCDS12171.1, CCDS45939.1	19p13.3	2008-02-05				ENSG00000125735		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11930	protein-coding gene	gene with protein product		604520				9462508	Standard	NM_172014		Approved	LIGHT, LTg, HVEM-L, CD258	uc002mfk.2	O43557		ENST00000599359.1:c.636G>A	19.37:g.6665024C>T						TNFSF14_ENST00000599359.1_Silent_p.G212G|TNFSF14_ENST00000245912.3_Silent_p.G176G	p.G176G	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN			5	909	-			212					A8K7M2|C9J5H4|O75476|Q6FHA1|Q8WVF8|Q96LD2	Silent	SNP	ENST00000599359.1	37	c.528G>A	CCDS12171.1																																																																																				0.627	TNFSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457863.1			6	85	0	0	0	1	0	6	85				
MYO1C	4641	broad.mit.edu	37	17	1384090	1384090	+	Silent	SNP	G	G	T			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr17:1384090G>T	ENST00000575158.1	-	6	788	c.612C>A	c.(610-612)atC>atA	p.I204I	MYO1C_ENST00000573198.1_5'UTR|MYO1C_ENST00000438665.2_Silent_p.I220I|MYO1C_ENST00000361007.2_Silent_p.I204I|MYO1C_ENST00000545534.2_Silent_p.I215I|MYO1C_ENST00000359786.5_Silent_p.I239I			Q12965	MYO1E_HUMAN	myosin IC	211	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCTGGTAGAAGATGTGGAAGT	0.607																																						ENST00000359786.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(715-717)atC>atA		myosin IC							97.0	95.0	95.0					17																	1384090		2203	4300	6503	SO:0001819	synonymous_variant	4641				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:1384090G>T	X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"""Myosins / Myosin superfamily : Class I"""	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.612C>A	17.37:g.1384090G>T						MYO1C_ENST00000545534.2_Silent_p.I215I|MYO1C_ENST00000438665.2_Silent_p.I220I|MYO1C_ENST00000575158.1_Silent_p.I204I|MYO1C_ENST00000361007.2_Silent_p.I204I|MYO1C_ENST00000573198.1_5'UTR	p.I239I	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	6	1041	-			239			Myosin head-like.		Q14778	Silent	SNP	ENST00000575158.1	37	c.717C>A	CCDS11003.1																																																																																				0.607	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438694.2			29	79	1	0	2.65835e-16	1	2.77563e-16	29	79				
TTF1	7270	broad.mit.edu	37	9	135251350	135251350	+	Silent	SNP	G	G	A	rs199752397		TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr9:135251350G>A	ENST00000334270.2	-	11	2709	c.2670C>T	c.(2668-2670)caC>caT	p.H890H	TTF1_ENST00000461970.1_5'UTR	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	890					chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		aattacaggcgtgagccatgc	0.493													g|||	0	0.0	0.0	0.0	5008	,	,		19658	0.0		0.0	False		,,,				2504	0.0					ENST00000334270.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(2668-2670)caC>caT		transcription termination factor, RNA polymerase I							52.0	50.0	51.0					9																	135251350		2203	4300	6503	SO:0001819	synonymous_variant	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135251350G>A	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.2670C>T	9.37:g.135251350G>A						TTF1_ENST00000461970.1_5'UTR	p.H890H	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	11	2709	-		Myeloproliferative disorder(178;0.204)	890					A1L160|Q4VXF3|Q58EY2|Q6P5T5	Silent	SNP	ENST00000334270.2	37	c.2670C>T	CCDS6948.1																																																																																				0.493	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		4	50	0	0	0	1	0	4	50				
NOTCH2NL	388677	broad.mit.edu	37	1	145273385	145273385	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr1:145273385G>A	ENST00000369340.3	+	4	683	c.239G>A	c.(238-240)gGc>gAc	p.G80D	NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.G80D|RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.G80D|NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.G80D			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	80	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.G80D(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						CTGAATGGCGGCACATGCCAT	0.532																																						ENST00000369340.3																			2	Substitution - Missense(2)	p.G80D(2)	prostate(2)	NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(238-240)gGc>gAc		notch 2 N-terminal like							402.0	370.0	381.0					1																	145273385		2203	4300	6503	SO:0001583	missense	388677				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding	g.chr1:145273385G>A		CCDS72880.1	1q21.2	2010-06-24	2010-06-24		ENSG00000213240	ENSG00000213240			31862	protein-coding gene	gene with protein product			"""Notch homolog 2 (Drosophila) N-terminal like"""			14673143	Standard	NM_203458		Approved	N2N	uc001emn.4	Q7Z3S9	OTTHUMG00000013754	ENST00000369340.3:c.239G>A	1.37:g.145273385G>A	ENSP00000358346:p.Gly80Asp					RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.G80D|NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.G80D|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.G80D	p.G80D			Q7Z3S9	NT2NL_HUMAN			4	683	+			80			EGF-like 3.		Q5BKT8|Q5VTG9|Q5XG84|Q6P192|Q8NC23|Q8WUQ9|Q96FY1	Missense_Mutation	SNP	ENST00000369340.3	37	c.239G>A	CCDS909.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.834089	0.50951	.	.	ENSG00000213240	ENST00000362074;ENST00000344859;ENST00000369340	D;D;D	0.97480	-4.4;-4.4;-4.4	2.75	2.75	0.32379	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.98216	0.9410	M	0.90145	3.09	0.38396	D	0.945546	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98847	1.0757	9	0.87932	D	0	.	11.2552	0.49050	0.0:0.0:1.0:0.0	.	80;80	Q7Z3S9-2;Q7Z3S9	.;NT2NL_HUMAN	D	80	ENSP00000354929:G80D;ENSP00000344557:G80D;ENSP00000358346:G80D	ENSP00000344557:G80D	G	+	2	0	NOTCH2NL	143984742	1.000000	0.71417	0.997000	0.53966	0.256000	0.26092	8.043000	0.89432	1.532000	0.49169	0.394000	0.25966	GGC		0.532	NOTCH2NL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038546.1	NM_203458		6	386	0	0	0	1	0	6	386				
ATP8B3	148229	broad.mit.edu	37	19	1791999	1791999	+	Splice_Site	SNP	C	C	G			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr19:1791999C>G	ENST00000310127.6	-	19	2429		c.e19+1		ATP8B3_ENST00000539485.1_Missense_Mutation_p.V731L|ATP8B3_ENST00000525591.1_Missense_Mutation_p.V684L	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3						binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGTTGTACACCTGTTGCAGG	0.687																																						ENST00000539485.1																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23						c.(2191-2193)Gtg>Ctg		ATPase, aminophospholipid transporter, class I, type 8B, member 3							14.0	15.0	15.0					19																	1791999		1912	4086	5998	SO:0001630	splice_region_variant	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1791999C>G	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.2190+1G>C	19.37:g.1791999C>G						ATP8B3_ENST00000310127.6_Splice_Site|ATP8B3_ENST00000525591.1_Missense_Mutation_p.V684L	p.V731L			O60423	AT8B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	19	2424	-		Hepatocellular(1079;0.137)	730					Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	37	c.2191G>C	CCDS45901.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.026|0.026	-1.369497|-1.369497	0.01225|0.01225	.|.	.|.	ENSG00000130270|ENSG00000130270	ENST00000310127|ENST00000539485;ENST00000525591	.|T;T	.|0.80653	.|-1.4;-1.4	4.58|4.58	-5.1|-5.1	0.02911|0.02911	.|.	.|0.744172	.|0.12517	.|N	.|0.461995	.|T	.|0.60011	.|0.2236	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999993|0.999993	.|B	.|0.15719	.|0.014	.|B	.|0.17098	.|0.017	.|T	.|0.48055	.|-0.9068	.|9	.|0.16896	.|T	.|0.51	.|.	8.9451|8.9451	0.35753|0.35753	0.1054:0.27:0.5546:0.0699|0.1054:0.27:0.5546:0.0699	.|.	.|684	.|Q7Z485	.|.	.|L	-1|731;684	.|ENSP00000443574:V731L;ENSP00000437115:V684L	.|ENSP00000437115:V684L	.|V	-|-	.|1	.|0	ATP8B3|ATP8B3	1742999|1742999	0.000000|0.000000	0.05858|0.05858	0.440000|0.440000	0.26846|0.26846	0.011000|0.011000	0.07611|0.07611	-0.740000|-0.740000	0.04861|0.04861	-0.677000|-0.677000	0.05231|0.05231	-0.321000|-0.321000	0.08615|0.08615	.|GTG		0.687	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813	Intron	5	7	0	0	0	1	0	5	7				
DIRC2	84925	broad.mit.edu	37	3	122578991	122578991	+	Silent	SNP	A	A	G			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr3:122578991A>G	ENST00000261038.5	+	7	1478	c.1080A>G	c.(1078-1080)tcA>tcG	p.S360S		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	360					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		CTACACTGTCATCCACGTGGT	0.378																																						ENST00000261038.5																			0				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18						c.(1078-1080)tcA>tcG		disrupted in renal carcinoma 2							138.0	127.0	131.0					3																	122578991		2203	4300	6503	SO:0001819	synonymous_variant	84925				transport	integral to membrane		g.chr3:122578991A>G	AK027690	CCDS3018.1	3q21.1	2013-05-22			ENSG00000138463	ENSG00000138463		"""Solute carriers"""	16628	protein-coding gene	gene with protein product	"""renal cell carcinoma 4"", ""disrupted in renal cancer protein 2"""	602773				11912179	Standard	NM_032839		Approved	FLJ14784, RCC4	uc003efw.4	Q96SL1	OTTHUMG00000159553	ENST00000261038.5:c.1080A>G	3.37:g.122578991A>G							p.S360S	NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN		GBM - Glioblastoma multiforme(114;0.0614)	7	1478	+			360					A8K561|Q8NBX9	Silent	SNP	ENST00000261038.5	37	c.1080A>G	CCDS3018.1																																																																																				0.378	DIRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356180.2	NM_032839		41	85	0	0	0	1	0	41	85				
TNK2	10188	broad.mit.edu	37	3	195605334	195605334	+	Missense_Mutation	SNP	G	G	A	rs141404332	byFrequency	TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr3:195605334G>A	ENST00000333602.6	-	8	1761	c.1144C>T	c.(1144-1146)Cgg>Tgg	p.R382W	TNK2_ENST00000468819.1_5'Flank|TNK2_ENST00000428187.1_Missense_Mutation_p.R414W|TNK2_ENST00000316664.3_Missense_Mutation_p.R382W|TNK2_ENST00000381916.2_Missense_Mutation_p.R445W|TNK2_ENST00000392400.1_Missense_Mutation_p.R382W	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	382	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.			Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)	p.R445W(2)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	AGGAAGTCCCGCAGGGCCACA	0.652													G|||	3	0.000599042	0.0	0.0	5008	,	,		18849	0.003		0.0	False		,,,				2504	0.0					ENST00000333602.6																			2	Substitution - Missense(2)	p.R445W(2)	stomach(2)	central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(1144-1146)Cgg>Tgg		tyrosine kinase, non-receptor, 2	Adenosine triphosphate(DB00171)	G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	83.0	85.0	84.0		1333,1144	3.0	1.0	3	dbSNP_134	84	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	TNK2	NM_001010938.1,NM_005781.4	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	445/1087,382/1039	195605334	1,13005	2203	4300	6503	SO:0001583	missense	10188				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr3:195605334G>A	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"""activated Cdc42-associated kinase 1"""	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.1144C>T	3.37:g.195605334G>A	ENSP00000329425:p.Arg382Trp					TNK2_ENST00000381916.2_Missense_Mutation_p.R445W|TNK2_ENST00000392400.1_Missense_Mutation_p.R382W|TNK2_ENST00000428187.1_Missense_Mutation_p.R414W|TNK2_ENST00000316664.3_Missense_Mutation_p.R382W	p.R382W	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	8	1761	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	382	Missing (in Ref. 4; AAH08884).		Protein kinase.		Q6ZMQ0|Q8N6U7|Q96H59	Missense_Mutation	SNP	ENST00000333602.6	37	c.1144C>T	CCDS33928.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	14.82	2.649947	0.47362	0.0	1.16E-4	ENSG00000061938	ENST00000333602;ENST00000381916;ENST00000428187;ENST00000392400;ENST00000316664	T;T;T;T;T	0.62639	0.01;0.01;0.01;0.01;0.01	4.86	3.03	0.35002	Src homology-3 domain (1);Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.78285	0.4259	M	0.83223	2.63	0.46416	D	0.999038	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.975;0.997;0.994;0.992	T	0.78175	-0.2306	10	0.45353	T	0.12	.	12.1577	0.54087	0.0:0.0:0.5517:0.4483	.	258;382;445;414	Q59FX1;Q07912;Q07912-3;C9J1X3	.;ACK1_HUMAN;.;.	W	382;445;414;382;382	ENSP00000329425:R382W;ENSP00000371341:R445W;ENSP00000392546:R414W;ENSP00000376201:R382W;ENSP00000323216:R382W	ENSP00000323216:R382W	R	-	1	2	TNK2	197089731	0.731000	0.28111	0.964000	0.40570	0.391000	0.30476	1.049000	0.30392	0.622000	0.30249	0.655000	0.94253	CGG		0.652	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		4	117	0	0	0	1	0	4	117				
PDE7A	5150	broad.mit.edu	37	8	66695041	66695041	+	Missense_Mutation	SNP	G	G	A	rs61736484	byFrequency	TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr8:66695041G>A	ENST00000401827.3	-	2	619	c.176C>T	c.(175-177)aCt>aTt	p.T59I	PDE7A_ENST00000379419.4_Missense_Mutation_p.T33I|PDE7A_ENST00000396642.3_Missense_Mutation_p.T59I	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	59					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	GTATAATGCAGTCTGATCAGA	0.289																																						ENST00000401827.3																			0				large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10						c.(175-177)aCt>aTt		phosphodiesterase 7A	Dyphylline(DB00651)|Ketotifen(DB00920)						49.0	49.0	49.0					8																	66695041		2203	4297	6500	SO:0001583	missense	5150					cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr8:66695041G>A	L12052	CCDS34901.1, CCDS56538.1	8q13	2008-03-18				ENSG00000205268	3.1.4.17	"""Phosphodiesterases"""	8791	protein-coding gene	gene with protein product		171885				8389765, 9521885	Standard	NM_001242318		Approved	HCP1	uc003xvq.3	Q13946		ENST00000401827.3:c.176C>T	8.37:g.66695041G>A	ENSP00000385632:p.Thr59Ile					PDE7A_ENST00000379419.4_Missense_Mutation_p.T33I|PDE7A_ENST00000396642.3_Missense_Mutation_p.T59I	p.T59I	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		2	619	-			59					A0AVH6|A8K436|A8K9G5|O15380|Q96T72	Missense_Mutation	SNP	ENST00000401827.3	37	c.176C>T	CCDS56538.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.571260	0.86542	.	.	ENSG00000205268	ENST00000401827;ENST00000379419;ENST00000396642;ENST00000523253	T;T;T;T	0.78003	-1.14;-0.4;-1.14;0.65	5.54	5.54	0.83059	.	0.665359	0.15169	N	0.276755	D	0.86108	0.5854	L	0.50333	1.59	0.50313	D	0.999866	D;D;D	0.76494	0.997;0.992;0.999	D;P;D	0.80764	0.991;0.858;0.994	D	0.86003	0.1496	10	0.72032	D	0.01	.	18.256	0.90020	0.0:0.0:1.0:0.0	.	59;59;33	Q13946-3;Q13946;Q13946-2	.;PDE7A_HUMAN;.	I	59;33;59;33	ENSP00000385632:T59I;ENSP00000368730:T33I;ENSP00000379881:T59I;ENSP00000430262:T33I	ENSP00000368730:T33I	T	-	2	0	PDE7A	66857595	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.143000	0.71756	2.610000	0.88304	0.555000	0.69702	ACT		0.289	PDE7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378905.1			5	40	0	0	0	1	0	5	40				
SLC35A3	23443	broad.mit.edu	37	1	100480866	100480866	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr1:100480866G>A	ENST00000370155.3	+	6	1035	c.643G>A	c.(643-645)Gga>Aga	p.G215R	SLC35A3_ENST00000370156.3_3'UTR|SLC35A3_ENST00000465289.1_Intron|SLC35A3_ENST00000370153.1_Missense_Mutation_p.G257R|SLC35A3_ENST00000427993.2_Missense_Mutation_p.G215R	NM_012243.1	NP_036375.1	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3	215					transmembrane transport (GO:0055085)|UDP-N-acetylglucosamine metabolic process (GO:0006047)|UDP-N-acetylglucosamine transport (GO:0015788)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sugar:proton symporter activity (GO:0005351)|UDP-N-acetylglucosamine transmembrane transporter activity (GO:0005462)			biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		AGGTTTCTTTGGAAGTATATT	0.303																																					Ovarian(7;298 356 944 2149 6911)	ENST00000370155.3																			0				biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11						c.(643-645)Gga>Aga		solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3							70.0	75.0	73.0					1																	100480866		2201	4299	6500	SO:0001583	missense	23443				UDP-N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity	g.chr1:100480866G>A	AB021981	CCDS762.1, CCDS60204.1, CCDS60205.1	1p21	2013-05-22			ENSG00000117620	ENSG00000117620		"""Solute carriers"""	11023	protein-coding gene	gene with protein product		605632	"""solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member 3"""			10393322	Standard	NM_001271685		Approved		uc001dsr.2	Q9Y2D2	OTTHUMG00000010805	ENST00000370155.3:c.643G>A	1.37:g.100480866G>A	ENSP00000359174:p.Gly215Arg					SLC35A3_ENST00000370156.3_3'UTR|SLC35A3_ENST00000427993.2_Missense_Mutation_p.G215R|SLC35A3_ENST00000370153.1_Missense_Mutation_p.G257R|SLC35A3_ENST00000465289.1_Intron	p.G215R	NM_012243.1	NP_036375.1	Q9Y2D2	S35A3_HUMAN		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)	6	1035	+		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)	215					A8K3F8|D3DT54|Q68CR2|Q9BSB7	Missense_Mutation	SNP	ENST00000370155.3	37	c.643G>A	CCDS762.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.946028	0.92593	.	.	ENSG00000117620	ENST00000370155;ENST00000427993;ENST00000370153;ENST00000422078	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.28	5.28	0.74379	.	0.094982	0.64402	D	0.000001	T	0.78723	0.4328	H	0.95114	3.625	0.80722	D	1	D;D	0.69078	0.995;0.997	D;D	0.71414	0.954;0.973	D	0.84949	0.0870	10	0.72032	D	0.01	-18.0897	18.882	0.92358	0.0:0.0:1.0:0.0	.	256;215	Q9Y2D2-2;Q9Y2D2	.;S35A3_HUMAN	R	215;215;257;215	ENSP00000359174:G215R;ENSP00000414947:G215R;ENSP00000359172:G257R;ENSP00000401679:G215R	ENSP00000359172:G257R	G	+	1	0	SLC35A3	100253454	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.362000	0.73077	2.630000	0.89119	0.655000	0.94253	GGA		0.303	SLC35A3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000029783.1	NM_012243		25	22	0	0	0	1	0	25	22				
PRKDC	5591	broad.mit.edu	37	8	48852241	48852241	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr8:48852241G>A	ENST00000314191.2	-	11	1039	c.983C>T	c.(982-984)gCg>gTg	p.A328V	PRKDC_ENST00000338368.3_Missense_Mutation_p.A328V|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	328					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)	TGCATTTTTCGCCACCATATT	0.294								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.(982-984)gCg>gTg	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							61.0	55.0	57.0					8																	48852241		1828	4077	5905	SO:0001583	missense	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.chr8:48852241G>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.983C>T	8.37:g.48852241G>A	ENSP00000313420:p.Ala328Val					PRKDC_ENST00000338368.3_Missense_Mutation_p.A328V|PRKDC_ENST00000523565.1_5'UTR	p.A328V	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			11	1039	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	328					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.983C>T		.	.	.	.	.	.	.	.	.	.	G	18.57	3.652055	0.67472	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.67523	0.9;-0.27	5.73	5.73	0.89815	Armadillo-type fold (1);	0.063559	0.64402	D	0.000008	T	0.60038	0.2238	.	.	.	0.80722	D	1	P;P;P	0.44816	0.84;0.844;0.752	B;B;B	0.36845	0.234;0.118;0.118	T	0.61252	-0.7100	9	0.36615	T	0.2	.	19.8869	0.96915	0.0:0.0:1.0:0.0	.	328;328;328	P78527-2;E7EUY0;P78527	.;.;PRKDC_HUMAN	V	328	ENSP00000313420:A328V;ENSP00000345182:A328V	ENSP00000313420:A328V	A	-	2	0	PRKDC	49014794	1.000000	0.71417	0.965000	0.40720	0.916000	0.54674	9.272000	0.95707	2.693000	0.91896	0.655000	0.94253	GCG		0.294	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		10	50	0	0	0	1	0	10	50				
CACNA1S	779	broad.mit.edu	37	1	201010635	201010635	+	Silent	SNP	G	G	A			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr1:201010635G>A	ENST00000362061.3	-	41	5357	c.5131C>T	c.(5131-5133)Ctg>Ttg	p.L1711L	CACNA1S_ENST00000367338.3_Silent_p.L1692L|RP11-168O16.2_ENST00000415359.1_RNA	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1711					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GACTGACCCAGGACCCTGCAG	0.557																																						ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(5131-5133)Ctg>Ttg		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						65.0	59.0	61.0					1																	201010635		2203	4300	6503	SO:0001819	synonymous_variant	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201010635G>A	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.5131C>T	1.37:g.201010635G>A						RP11-168O16.2_ENST00000415359.1_RNA|CACNA1S_ENST00000367338.3_Silent_p.L1692L	p.L1711L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			41	5357	-			1711					A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	c.5131C>T	CCDS1407.1																																																																																				0.557	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		9	31	0	0	0	1	0	9	31				
COL6A3	1293	broad.mit.edu	37	2	238280668	238280668	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr2:238280668C>T	ENST00000295550.4	-	9	4444	c.3992G>A	c.(3991-3993)cGc>cAc	p.R1331H	COL6A3_ENST00000346358.4_Missense_Mutation_p.R1131H|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1125H|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1130H|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1125H|COL6A3_ENST00000472056.1_Missense_Mutation_p.R724H|COL6A3_ENST00000392004.3_Missense_Mutation_p.R1125H|COL6A3_ENST00000392003.2_Missense_Mutation_p.R924H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1331	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTCTTCAATGCGGCTCCCCAG	0.632																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(3991-3993)cGc>cAc		collagen, type VI, alpha 3							32.0	31.0	32.0					2																	238280668		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238280668C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3992G>A	2.37:g.238280668C>T	ENSP00000295550:p.Arg1331His					COL6A3_ENST00000409809.1_Missense_Mutation_p.R1125H|COL6A3_ENST00000392003.2_Missense_Mutation_p.R924H|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1125H|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1130H|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1131H|COL6A3_ENST00000392004.3_Missense_Mutation_p.R1125H|COL6A3_ENST00000472056.1_Missense_Mutation_p.R724H	p.R1331H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	9	4444	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1331			Nonhelical region.|VWFA 7.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.3992G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	33	5.228028	0.95173	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	T;T;T;T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23;0.23;0.23;0.23	5.84	5.84	0.93424	von Willebrand factor, type A (3);	0.000000	0.53938	D	0.000053	D	0.85305	0.5666	H	0.96748	3.875	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.89189	0.3549	10	0.66056	D	0.02	.	20.1346	0.98019	0.0:1.0:0.0:0.0	.	724;924;1125;1125;1331	E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;CO6A3_HUMAN	H	1331;1130;1125;724;1125;1131;1125;924	ENSP00000295550:R1331H;ENSP00000315609:R1130H;ENSP00000315873:R1125H;ENSP00000418285:R724H;ENSP00000386844:R1125H;ENSP00000295546:R1131H;ENSP00000375861:R1125H;ENSP00000375860:R924H	ENSP00000295550:R1331H	R	-	2	0	COL6A3	237945407	1.000000	0.71417	0.983000	0.44433	0.690000	0.40134	6.024000	0.70857	2.765000	0.95021	0.655000	0.94253	CGC		0.632	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		11	46	0	0	0	1	0	11	46				
FUBP1	8880	broad.mit.edu	37	1	78426109	78426111	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr1:78426109_78426111delAGG	ENST00000370768.2	-	15	1495_1497	c.1414_1416delCCT	c.(1414-1416)cctdel	p.P472del	FUBP1_ENST00000436586.2_In_Frame_Del_p.P493del|FUBP1_ENST00000370767.1_In_Frame_Del_p.P472del	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	472	Pro-rich.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CTGGAGGCCCAGGAGGTCCATGG	0.542			"""F, N"""		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"""F, N"""	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(1414-1416)del		far upstream element (FUSE) binding protein 1																																				SO:0001651	inframe_deletion	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78426109_78426111delAGG	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.1414_1416delCCT	1.37:g.78426112_78426114delAGG	ENSP00000359804:p.Pro472del					FUBP1_ENST00000370768.2_In_Frame_Del_p.P472del|FUBP1_ENST00000436586.2_In_Frame_Del_p.P493del	p.P472del			Q96AE4	FUBP1_HUMAN			15	1501_1503	-			472			Pro-rich.		Q12828	In_Frame_Del	DEL	ENST00000370768.2	37	c.1414_1416delCCT	CCDS683.1																																																																																				0.542	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		12	9						12	9	---	---	---	---
FUBP1	8880	broad.mit.edu	37	1	78430386	78430386	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr1:78430386delA	ENST00000370768.2	-	10	863	c.782delT	c.(781-783)ttcfs	p.F261fs	FUBP1_ENST00000436586.2_Frame_Shift_Del_p.F282fs|FUBP1_ENST00000370767.1_Frame_Shift_Del_p.F261fs	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	261					positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						AACTTCTCTGAAACCGCCTTG	0.348			"""F, N"""		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"""F, N"""	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(781-783)tcfs		far upstream element (FUSE) binding protein 1							144.0	145.0	145.0					1																	78430386		2203	4300	6503	SO:0001589	frameshift_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78430386delA	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.782delT	1.37:g.78430386delA	ENSP00000359804:p.Phe261fs					FUBP1_ENST00000370768.2_Frame_Shift_Del_p.F261fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.F282fs	p.F261fs			Q96AE4	FUBP1_HUMAN			10	869	-			261					Q12828	Frame_Shift_Del	DEL	ENST00000370768.2	37	c.782delT	CCDS683.1																																																																																				0.348	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		17	108						17	108	---	---	---	---
NTRK1	4914	broad.mit.edu	37	1	156844179	156844181	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr1:156844179_156844181delCTT	ENST00000524377.1	+	9	1223_1225	c.1182_1184delCTT	c.(1180-1185)tccttc>tcc	p.F395del	NTRK1_ENST00000368196.3_Intron|NTRK1_ENST00000392302.2_Intron|NTRK1_ENST00000358660.3_Intron	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	395					activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	CTGCAGTCTCCTTCTCGCCGGTG	0.601			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																												ENST00000524377.1				Dom	yes		1	1q21-q22	4914	T	"""neurotrophic tyrosine kinase, receptor, type 1"""			E	"""TPM3, TPR, TFG"""		papillary thyroid		0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74						c.(1180-1185)tcc>tc		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)		,,	1,4265		0,1,2132					,,	4.8	1.0			176	6,8246		3,0,4123	no	coding,intron,intron	NTRK1	NM_002529.3,NM_001012331.1,NM_001007792.1	,,	3,1,6255	A1A1,A1R,RR		0.0727,0.0234,0.0559	,,	,,		7,12511				SO:0001651	inframe_deletion	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156844179_156844181delCTT	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.1182_1184delCTT	1.37:g.156844179_156844181delCTT	ENSP00000431418:p.Phe395del	TSP Lung(10;0.080)				NTRK1_ENST00000392302.2_Intron|NTRK1_ENST00000368196.3_Intron|NTRK1_ENST00000358660.3_Intron	p.SF394del	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN			9	1223_1225	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		394					B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	In_Frame_Del	DEL	ENST00000524377.1	37	c.1182_1184delCTT	CCDS1161.1																																																																																				0.601	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		12	195						12	195	---	---	---	---
ATP1B1	481	broad.mit.edu	37	1	169100780	169100784	+	Frame_Shift_Del	DEL	AAGTT	AAGTT	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr1:169100780_169100784delAAGTT	ENST00000367816.1	+	7	1428_1432	c.899_903delAAGTT	c.(898-903)gaagttfs	p.EV300fs	ATP1B1_ENST00000367813.3_Frame_Shift_Del_p.EV292fs|ATP1B1_ENST00000367815.4_Frame_Shift_Del_p.EV300fs|ATP1B1_ENST00000499679.3_Frame_Shift_Del_p.EV244fs			P05026	AT1B1_HUMAN	ATPase, Na+/K+ transporting, beta 1 polypeptide	300	immunoglobulin-like.				blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of calcium:sodium antiporter activity (GO:1903281)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein localization to plasma membrane (GO:0072659)|protein stabilization (GO:0050821)|protein transport into plasma membrane raft (GO:0044861)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression (GO:0010468)|relaxation of cardiac muscle (GO:0055119)|response to hypoxia (GO:0001666)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|vesicle (GO:0031982)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|MHC class II protein complex binding (GO:0023026)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14	all_hematologic(923;0.208)					GTAAAAATTGAAGTTAAGAGCTGAT	0.371																																						ENST00000367816.1																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14						c.(898-903)gfs		ATPase, Na+/K+ transporting, beta 1 polypeptide																																				SO:0001589	frameshift_variant	481				ATP biosynthetic process|blood coagulation|leukocyte migration	sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity	g.chr1:169100780_169100784delAAGTT	U16799	CCDS1276.1	1q24.2	2012-10-22			ENSG00000143153	ENSG00000143153		"""ATPases / P-type"""	804	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit beta-1"", ""sodium pump subunit beta-1"", ""sodium-potassium ATPase subunit beta 1 (non-catalytic)"""	182330		ATP1B			Standard	NM_001677		Approved		uc001gfr.1	P05026	OTTHUMG00000034590	ENST00000367816.1:c.899_903delAAGTT	1.37:g.169100780_169100784delAAGTT	ENSP00000356790:p.Glu300fs					ATP1B1_ENST00000367815.3_Frame_Shift_Del_p.EV300fs|ATP1B1_ENST00000367813.3_Frame_Shift_Del_p.EV292fs|ATP1B1_ENST00000499679.3_Frame_Shift_Del_p.EV244fs	p.EV300fs			P05026	AT1B1_HUMAN			7	1428_1432	+	all_hematologic(923;0.208)		300					Q5TGZ3	Frame_Shift_Del	DEL	ENST00000367816.1	37	c.899_903delAAGTT	CCDS1276.1																																																																																				0.371	ATP1B1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083696.1			11	97						11	97	---	---	---	---
SYT2	127833	broad.mit.edu	37	1	202568405	202568407	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr1:202568405_202568407delTCT	ENST00000367267.1	-	8	1184_1186	c.992_994delAGA	c.(991-996)aagacc>acc	p.K331del	SYT2_ENST00000367268.4_In_Frame_Del_p.K331del	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	331	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000250}.				neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	GGGTTCAGGGTCTTCTTCTTCAC	0.542																																						ENST00000367267.1																			0				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29						c.(991-996)acc>a		synaptotagmin II	Botulinum Toxin Type B(DB00042)																																			SO:0001651	inframe_deletion	127833				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:202568405_202568407delTCT	AK090672	CCDS1427.1	1q32.1	2013-01-21			ENSG00000143858	ENSG00000143858		"""Synaptotagmins"""	11510	protein-coding gene	gene with protein product		600104				7749232	Standard	NM_177402		Approved		uc010pqb.2	Q8N9I0	OTTHUMG00000041388	ENST00000367267.1:c.992_994delAGA	1.37:g.202568411_202568413delTCT	ENSP00000356236:p.Lys331del					SYT2_ENST00000367268.4_In_Frame_Del_p.KT331del	p.KT331del	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.169)		8	1184_1186	-			331			C2 2.|Phospholipid binding (By similarity).		Q496K5|Q8NBE5	In_Frame_Del	DEL	ENST00000367267.1	37	c.992_994delAGA	CCDS1427.1																																																																																				0.542	SYT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099157.1	NM_177402		10	133						10	133	---	---	---	---
ANKAR	150709	broad.mit.edu	37	2	190541787	190541788	+	Frame_Shift_Del	DEL	AA	AA	-	rs141582205	byFrequency	TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr2:190541787_190541788delAA	ENST00000520309.1	+	2	659_660	c.571_572delAA	c.(571-573)aaafs	p.K191fs	ANKAR_ENST00000431575.2_Frame_Shift_Del_p.K120fs|ANKAR_ENST00000438402.2_Frame_Shift_Del_p.K191fs|ANKAR_ENST00000281412.6_5'UTR|ANKAR_ENST00000461516.1_Intron|ANKAR_ENST00000313581.4_Frame_Shift_Del_p.K191fs	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	191						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TCAAACAAATAAAGACATTTTT	0.351																																						ENST00000520309.1																			0				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(571-573)afs		ankyrin and armadillo repeat containing																																				SO:0001589	frameshift_variant	150709					integral to membrane	binding	g.chr2:190541787_190541788delAA	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.571_572delAA	2.37:g.190541787_190541788delAA	ENSP00000427882:p.Lys191fs					ANKAR_ENST00000281412.6_5'UTR|ANKAR_ENST00000313581.4_Frame_Shift_Del_p.K191fs|ANKAR_ENST00000438402.2_Frame_Shift_Del_p.K191fs|ANKAR_ENST00000431575.2_Frame_Shift_Del_p.K120fs|ANKAR_ENST00000461516.1_Intron	p.K191fs	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		2	659_660	+			191					Q3ZCS6|Q4G0M2|Q6ZU02	Frame_Shift_Del	DEL	ENST00000520309.1	37	c.571_572delAA	CCDS33351.2																																																																																				0.351	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		15	66						15	66	---	---	---	---
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	RNA	DEL	AGC	AGC	-	rs76272937|rs74800608|rs375843790|rs74185804|rs202010288	byFrequency	TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr3:12046124_12046126delAGC	ENST00000432424.2	+	0	245_247							Q92777	SYN2_HUMAN	synapsin II						neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764														5004	0.999201	0.9992	1.0	5008	,	,		2724	1.0		0.999	False		,,,				2504	0.998					ENST00000432424.2																			0				breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18								synapsin II																																						6854				neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity	g.chr3:12046124_12046126delAGC		CCDS74900.1, CCDS74901.1	3p25.2	2013-09-20			ENSG00000157152	ENSG00000157152			11495	protein-coding gene	gene with protein product		600755				8530057	Standard	XM_006713311		Approved	SYNII, SYNIIa, SYNIIb	uc003bwm.3	Q92777	OTTHUMG00000155335		3.37:g.12046124_12046126delAGC										Q86VA8	Q86VA8_HUMAN			0	245_247	+								A8MY98	RNA	DEL	ENST00000432424.2	37																																																																																						0.764	SYN2-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000339528.3	NM_133625		5	8						5	8	---	---	---	---
ARL6	84100	broad.mit.edu	37	3	97486990	97486992	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr3:97486990_97486992delGAA	ENST00000463745.1	+	2	516_518	c.39_41delGAA	c.(37-42)ctgaag>ctg	p.K16del	ARL6_ENST00000496713.1_3'UTR|ARL6_ENST00000394206.1_In_Frame_Del_p.K16del|ARL6_ENST00000335979.2_In_Frame_Del_p.K16del	NM_001278293.1	NP_001265222.1	Q9H0F7	ARL6_HUMAN	ADP-ribosylation factor-like 6	16					cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|fat cell differentiation (GO:0045444)|melanosome transport (GO:0032402)|protein polymerization (GO:0051258)|protein targeting to membrane (GO:0006612)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	axonemal microtubule (GO:0005879)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane coat (GO:0030117)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)			large_intestine(1)|lung(4)	5		Lung NSC(201;0.0193)|Prostate(884;0.174)		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)		TGCTTGGCCTGAAGAAGAAGGAG	0.35																																						ENST00000463745.1																			0				large_intestine(1)|lung(4)	5						c.(37-42)ctg>ct		ADP-ribosylation factor-like 6																																				SO:0001651	inframe_deletion	84100				cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway	axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body	GTP binding|metal ion binding|phospholipid binding|protein binding	g.chr3:97486990_97486992delGAA	BC024239	CCDS2928.1	3q11.2	2014-05-09			ENSG00000113966	ENSG00000113966		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	13210	protein-coding gene	gene with protein product		608845		BBS3		15258860, 15314642, 21282186	Standard	NM_032146		Approved	RP55	uc003drv.3	Q9H0F7	OTTHUMG00000159189	ENST00000463745.1:c.39_41delGAA	3.37:g.97486996_97486998delGAA	ENSP00000419619:p.Lys16del					ARL6_ENST00000496713.1_3'UTR|ARL6_ENST00000335979.2_In_Frame_Del_p.LK13del|ARL6_ENST00000394206.1_In_Frame_Del_p.LK13del	p.LK13del	NM_001278293.1	NP_001265222.1	Q9H0F7	ARL6_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)	2	516_518	+		Lung NSC(201;0.0193)|Prostate(884;0.174)	13					A8KA93|D3DN31	In_Frame_Del	DEL	ENST00000463745.1	37	c.39_41delGAA	CCDS2928.1																																																																																				0.350	ARL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353756.1	NM_032146		10	168						10	168	---	---	---	---
TRMT10C	54931	broad.mit.edu	37	3	101283849	101283851	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr3:101283849_101283851delAAG	ENST00000309922.6	+	2	378_380	c.224_226delAAG	c.(223-228)caagaa>caa	p.E77del		NM_017819.2	NP_060289.2	Q7L0Y3	MRRP1_HUMAN	tRNA methyltransferase 10 homolog C (S. cerevisiae)	77					mitochondrial RNA 5'-end processing (GO:0000964)|tRNA processing (GO:0008033)	mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)										TCTAGTGTGCAAGAAGAATGTGT	0.419																																						ENST00000309922.6																			0											c.(223-228)caa>c		tRNA methyltransferase 10 homolog C (S. cerevisiae)																																				SO:0001651	inframe_deletion	54931							g.chr3:101283849_101283851delAAG	AK000439	CCDS43122.1	3q12.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000174173	ENSG00000174173			26022	protein-coding gene	gene with protein product	"""mitochondrial RNase P subunit 1"""	615423	"""RNA (guanine-9-) methyltransferase domain containing 1"""	RG9MTD1		18984158	Standard	NM_017819		Approved	FLJ20432, MRPP1	uc003duz.4	Q7L0Y3	OTTHUMG00000159114	ENST00000309922.6:c.224_226delAAG	3.37:g.101283852_101283854delAAG	ENSP00000312356:p.Glu77del						p.QE75del	NM_017819.2	NP_060289.2					2	378_380	+								Q9NRG5|Q9NX54|Q9Y596	In_Frame_Del	DEL	ENST00000309922.6	37	c.224_226delAAG	CCDS43122.1																																																																																				0.419	TRMT10C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353400.2	NM_017819		24	140						24	140	---	---	---	---
RP11-93K22.13	0	broad.mit.edu	37	3	129814807	129814807	+	lincRNA	DEL	G	G	-	rs71158106	byFrequency	TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr3:129814807delG	ENST00000514010.1	-	0	0				AC083906.2_ENST00000578837.1_RNA|ALG1L2_ENST00000507643.1_RNA																							CACTCCCCTCGGGGGGTGTTG	0.607														857	0.171126	0.2088	0.1628	5008	,	,		17216	0.003		0.2932	False		,,,				2504	0.1738					ENST00000507643.1																			0																																																			0				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr3:129814807delG																													3.37:g.129814807delG										C9J202	AG1L2_HUMAN			0	456	+									RNA	DEL	ENST00000514010.1	37																																																																																						0.607	RP11-93K22.13-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000358040.1			2	4						2	4	---	---	---	---
CPA3	1359	broad.mit.edu	37	3	148582959	148582960	+	5'Flank	INS	-	-	A	rs143382113		TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr3:148582959_148582960insA	ENST00000296046.3	+	0	0				RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)						angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TCTCCAGCTGGAAAAAAAAAAC	0.436																																						ENST00000488190.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr3:148582959_148582960insA		CCDS3138.1	3q24	2012-02-10			ENSG00000163751	ENSG00000163751	3.4.17.1		2298	protein-coding gene	gene with protein product	"""mast cell carboxypeptidase A"", ""tissue carboxypeptidase A"""	114851					Standard	NM_001870		Approved		uc003ewm.3	P15088	OTTHUMG00000159526		3.37:g.148582969_148582969dupA	Exception_encountered													0	304	-								Q96E94	RNA	INS	ENST00000296046.3	37		CCDS3138.1																																																																																				0.436	CPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355974.1	NM_001870		4	6						4	6	---	---	---	---
ATP13A5	344905	broad.mit.edu	37	3	193002701	193002702	+	Splice_Site	DEL	AC	AC	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr3:193002701_193002702delAC	ENST00000342358.4	-	27	3344		c.e27+1		ATP13A5_ENST00000495496.1_Splice_Site	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5							integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TTATATACTTACAGTTTGTATA	0.396																																						ENST00000342358.4																			0				NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.e27+1		ATPase type 13A5																																				SO:0001630	splice_region_variant	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193002701_193002702delAC	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.3226+1GT>-	3.37:g.193002701_193002702delAC						ATP13A5_ENST00000495496.1_Splice_Site		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	27	3344	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)							Q6UWS4|Q6ZWL0	Splice_Site	DEL	ENST00000342358.4	37		CCDS33914.1																																																																																				0.396	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505	Intron	11	42						11	42	---	---	---	---
GP5	2814	broad.mit.edu	37	3	194117609	194117609	+	Frame_Shift_Del	DEL	C	C	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr3:194117609delC	ENST00000401815.1	-	1	1474	c.1403delG	c.(1402-1404)ggtfs	p.G468fs	GP5_ENST00000323007.3_Frame_Shift_Del_p.G468fs			P40197	GPV_HUMAN	glycoprotein V (platelet)	468	LRRCT.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|negative regulation of platelet activation (GO:0010544)|platelet activation (GO:0030168)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		CTCCGCGTCACCCCCCGGCAG	0.781																																						ENST00000401815.1																			0				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35						c.(1402-1404)gtfs		glycoprotein V (platelet)							7.0	9.0	8.0					3																	194117609		1957	3911	5868	SO:0001589	frameshift_variant	2814				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane		g.chr3:194117609delC	L11238	CCDS3307.1	3q29	2008-02-01			ENSG00000178732	ENSG00000178732		"""CD molecules"""	4443	protein-coding gene	gene with protein product		173511				7690959	Standard	NM_004488		Approved	CD42d	uc003ftv.1	P40197	OTTHUMG00000150345	ENST00000401815.1:c.1403delG	3.37:g.194117609delC	ENSP00000383931:p.Gly468fs					GP5_ENST00000323007.3_Frame_Shift_Del_p.G468fs	p.G468fs			P40197	GPV_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)	1	1474	-	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	468			LRRCT.		D1MER9	Frame_Shift_Del	DEL	ENST00000401815.1	37	c.1403delG	CCDS3307.1																																																																																				0.781	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317710.1	NM_004488		7	24						7	24	---	---	---	---
SDHAP1	255812	broad.mit.edu	37	3	195711343	195711344	+	RNA	INS	-	-	T	rs200252504	byFrequency	TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr3:195711343_195711344insT	ENST00000427841.1	-	0	585					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		AAAGACTTCTCTGTGAGCTTTG	0.381													|||unknown(ALL_OTHER_Ns)	3992	0.797125	0.888	0.8112	5008	,	,		14038	0.8571		0.6809	False		,,,				2504	0.7219				Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195711343_195711344insT	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195711344_195711344dupT								NR_003264.2						0	585	-									RNA	INS	ENST00000427841.1	37																																																																																						0.381	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			2	4						2	4	---	---	---	---
RIOK2	55781	broad.mit.edu	37	5	96503256	96503258	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr5:96503256_96503258delCTC	ENST00000283109.3	-	8	1378_1380	c.1310_1312delGAG	c.(1309-1314)ggagtc>gtc	p.G437del	CTD-2215E18.1_ENST00000509481.1_Intron|RIOK2_ENST00000508447.1_In_Frame_Del_p.G437del	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	437	Protein kinase.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		CCAGCAGGGACTCCTCCTTGAAC	0.419																																						ENST00000283109.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23						c.(1309-1314)gtc>g		RIO kinase 2																																				SO:0001651	inframe_deletion	55781						ATP binding|protein serine/threonine kinase activity	g.chr5:96503256_96503258delCTC	AK002021	CCDS4089.1, CCDS54884.1	5q14	2012-12-10	2012-12-10		ENSG00000058729	ENSG00000058729			18999	protein-coding gene	gene with protein product			"""RIO kinase 2 (yeast)"""				Standard	NM_018343		Approved	FLJ11159	uc003kmz.3	Q9BVS4	OTTHUMG00000128723	ENST00000283109.3:c.1310_1312delGAG	5.37:g.96503259_96503261delCTC	ENSP00000283109:p.Gly437del					CTD-2215E18.1_ENST00000509481.1_Intron|RIOK2_ENST00000508447.1_In_Frame_Del_p.GV437del	p.GV437del	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN		COAD - Colon adenocarcinoma(37;0.0657)	8	1378_1380	-		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)	437			Protein kinase.		D6RDI3|Q9NUT0	In_Frame_Del	DEL	ENST00000283109.3	37	c.1310_1312delGAG	CCDS4089.1																																																																																				0.419	RIOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250628.1	NM_018343		7	174						7	174	---	---	---	---
PCDHB13	56123	broad.mit.edu	37	5	140595357	140595359	+	In_Frame_Del	DEL	CAA	CAA	-	rs568642398		TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr5:140595357_140595359delCAA	ENST00000341948.4	+	1	1849_1851	c.1662_1664delCAA	c.(1660-1665)gccaac>gcc	p.N555del		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	555	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTGGACGCCAACGACAACTCG	0.719																																						ENST00000341948.4																			0				NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66						c.(1660-1665)gcc>gc																																						SO:0001651	inframe_deletion	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140595357_140595359delCAA	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1662_1664delCAA	5.37:g.140595357_140595359delCAA	ENSP00000345491:p.Asn555del						p.AN554del	NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1849_1851	+			554			Cadherin 5.		A8K9V6	In_Frame_Del	DEL	ENST00000341948.4	37	c.1662_1664delCAA	CCDS4255.1																																																																																				0.719	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		19	102						19	102	---	---	---	---
GSTA3	2940	broad.mit.edu	37	6	52764820	52764822	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr6:52764820_52764822delAGA	ENST00000211122.3	-	5	389_391	c.324_326delTCT	c.(322-327)cttctg>ctg	p.108_109LL>L	GSTA3_ENST00000370968.1_In_Frame_Del_p.58_59LL>L	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN	glutathione S-transferase alpha 3	108	GST C-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	ACATAAGGGCAGAAGAAGGATCA	0.389																																						ENST00000211122.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10						c.(322-327)ctg>ct		glutathione S-transferase alpha 3	Glutathione(DB00143)																																			SO:0001651	inframe_deletion	2940				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52764820_52764822delAGA	AF020919	CCDS4947.1	6p12.2	2012-06-21	2008-11-26		ENSG00000174156	ENSG00000174156	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4628	protein-coding gene	gene with protein product		605449	"""glutathione S-transferase A3"""			8307579, 9480897	Standard	NM_000847		Approved		uc003pbb.3	Q16772	OTTHUMG00000014865	ENST00000211122.3:c.324_326delTCT	6.37:g.52764823_52764825delAGA	ENSP00000211122:p.Leu109del					GSTA3_ENST00000370968.1_In_Frame_Del_p.LL58del	p.LL108del	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN			5	389_391	-	Lung NSC(77;0.0912)		108			GST C-terminal.		O43468|Q068V6|Q8WWA8|Q9H415	In_Frame_Del	DEL	ENST00000211122.3	37	c.324_326delTCT	CCDS4947.1																																																																																				0.389	GSTA3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040933.1			9	217						9	217	---	---	---	---
COL12A1	1303	broad.mit.edu	37	6	75875253	75875255	+	In_Frame_Del	DEL	CTC	CTC	-	rs376514006		TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr6:75875253_75875255delCTC	ENST00000322507.8	-	14	3260_3262	c.2951_2953delGAG	c.(2950-2955)ggagaa>gaa	p.G984del	COL12A1_ENST00000416123.2_In_Frame_Del_p.G984del|COL12A1_ENST00000483888.2_In_Frame_Del_p.G984del|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	984	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GTCAAAGGTTCTCCTTCTCCACT	0.429																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(2950-2955)gaa>g		collagen, type XII, alpha 1																																				SO:0001651	inframe_deletion	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75875253_75875255delCTC	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.2951_2953delGAG	6.37:g.75875253_75875255delCTC	ENSP00000325146:p.Gly984del					COL12A1_ENST00000416123.2_In_Frame_Del_p.GE984del|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_In_Frame_Del_p.GE984del	p.GE984del	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			14	3260_3262	-			984			Fibronectin type-III 6.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	In_Frame_Del	DEL	ENST00000322507.8	37	c.2951_2953delGAG	CCDS43482.1																																																																																				0.429	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		34	127						34	127	---	---	---	---
DLX6	1750	broad.mit.edu	37	7	96635420	96635421	+	In_Frame_Ins	INS	-	-	GCC	rs527616759|rs570498188|rs559903070|rs374304439	byFrequency	TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr7:96635420_96635421insGCC	ENST00000518156.2	+	1	561_562	c.131_132insGCC	c.(130-135)cagccg>caGCCgccg	p.53_54insP	DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS1_ENST00000431497.2_RNA|DLX6_ENST00000555308.1_5'Flank|DLX6-AS2_ENST00000606174.1_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000437331.2_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	0					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					caacagcaacagccgccgccgc	0.698														532	0.10623	0.0076	0.0893	5008	,	,		7133	0.0685		0.1948	False		,,,				2504	0.1994					ENST00000518156.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12						c.(130-132)ccc>cGCCcc		distal-less homeobox 6																																				SO:0001652	inframe_insertion	1750				nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:96635420_96635421insGCC		CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"""Homeoboxes / ANTP class : NKL subclass"""	2919	protein-coding gene	gene with protein product		600030	"""distal-less homeo box 6"""			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.156_158dupGCC	7.37:g.96635427_96635429dupGCC	ENSP00000428480:p.Pro54_Pro55dup					DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000430404.2_RNA	p.43_44insR			P56179	DLX6_HUMAN			1	561_562	+	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		0					A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	In_Frame_Ins	INS	ENST00000518156.2	37	c.131_132insGCC	CCDS47647.2																																																																																				0.698	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334373.4	NM_005222		2	4						2	4	---	---	---	---
ZNF467	168544	broad.mit.edu	37	7	149473220	149473222	+	5'Flank	DEL	CTT	CTT	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr7:149473220_149473222delCTT	ENST00000302017.3	-	0	0				ZNF467_ENST00000484747.1_5'Flank|SSPO_ENST00000378016.2_RNA	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AAGGGTCCTCCTTCTGCCGCATG	0.675																																						ENST00000378016.2																			0													SCO-spondin																																				SO:0001631	upstream_gene_variant	23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149473220_149473222delCTT	BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444		"""Zinc fingers, C2H2-type"""	23154	protein-coding gene	gene with protein product		614040				12426389	Standard	NM_207336		Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883		7.37:g.149473220_149473222delCTT	Exception_encountered									A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	50	+	Melanoma(164;0.165)|Ovarian(565;0.177)								RNA	DEL	ENST00000302017.3	37		CCDS5899.1																																																																																				0.675	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349833.1	NM_207336		9	19						9	19	---	---	---	---
EFR3A	23167	broad.mit.edu	37	8	132968029	132968031	+	In_Frame_Del	DEL	CTT	CTT	-	rs370171637		TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr8:132968029_132968031delCTT	ENST00000254624.5	+	7	878_880	c.653_655delCTT	c.(652-657)ccttct>cct	p.S220del	EFR3A_ENST00000334503.4_In_Frame_Del_p.S220del|EFR3A_ENST00000519656.1_In_Frame_Del_p.S184del	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	220						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			ATAGGCCCTCCTTCTTCTCCTTC	0.355																																						ENST00000254624.5																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35						c.(652-657)cct>c		EFR3 homolog A (S. cerevisiae)				11,4253		5,1,2126						5.6	1.0			124	13,8241		6,1,4120	no	coding	EFR3A	NM_015137.4		11,2,6246	A1A1,A1R,RR		0.1575,0.258,0.1917				24,12494				SO:0001651	inframe_deletion	23167					plasma membrane	binding	g.chr8:132968029_132968031delCTT	D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.653_655delCTT	8.37:g.132968032_132968034delCTT	ENSP00000254624:p.Ser220del					EFR3A_ENST00000334503.4_In_Frame_Del_p.PS218del|EFR3A_ENST00000519656.1_In_Frame_Del_p.PS182del	p.PS218del	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)		7	878_880	+	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		218					A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	In_Frame_Del	DEL	ENST00000254624.5	37	c.653_655delCTT	CCDS34942.2																																																																																				0.355	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137		12	147						12	147	---	---	---	---
LOC100132077	100132077	broad.mit.edu	37	9	97097144	97097144	+	lincRNA	DEL	T	T	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr9:97097144delT	ENST00000454869.1	+	0	513					NR_033937.1																						CAAGTTATAAttttttttttt	0.498																																						ENST00000454869.1																			0																																																			0							g.chr9:97097144delT																													9.37:g.97097144delT								NR_033937.1						0	513	+									RNA	DEL	ENST00000454869.1	37																																																																																						0.498	RP11-307E17.8-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000053177.1			3	5						3	5	---	---	---	---
CCDC3	83643	broad.mit.edu	37	10	12940560	12940562	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr10:12940560_12940562delCTT	ENST00000378825.3	-	3	793_795	c.667_669delAAG	c.(667-669)aagdel	p.K223del	CCDC3_ENST00000378839.1_In_Frame_Del_p.K98del	NM_031455.3	NP_113643.1	Q9BQI4	CCDC3_HUMAN	coiled-coil domain containing 3	223						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			ACCTCTTGACCTTCTTCACTCGC	0.631																																						ENST00000378839.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11						c.(292-294)del		coiled-coil domain containing 3																																				SO:0001651	inframe_deletion	83643					endoplasmic reticulum|extracellular region		g.chr10:12940560_12940562delCTT	BC051334	CCDS7093.1, CCDS60484.1	10p14	2004-02-13			ENSG00000151468	ENSG00000151468			23813	protein-coding gene	gene with protein product							Standard	NM_031455		Approved	DKFZp761F241	uc001ilq.1	Q9BQI4	OTTHUMG00000017689	ENST00000378825.3:c.667_669delAAG	10.37:g.12940563_12940565delCTT	ENSP00000368102:p.Lys223del					CCDC3_ENST00000378825.3_In_Frame_Del_p.K223del	p.K98del			Q9BQI4	CCDC3_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.163)		7	1244_1246	-		Ovarian(717;0.0822)	223					Q5VYV8|Q5VYV9	In_Frame_Del	DEL	ENST00000378825.3	37	c.292_294delAAG	CCDS7093.1																																																																																				0.631	CCDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046829.1	NM_031455		32	185						32	185	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	16989236	16989237	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr10:16989236_16989237delAA	ENST00000377833.4	-	36	5404_5405	c.5339_5340delTT	c.(5338-5340)tttfs	p.F1780fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1780	CUB 12. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGATTTACATAAAAGACAGCTG	0.446																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(5338-5340)tfs		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)																																			SO:0001589	frameshift_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16989236_16989237delAA	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.5339_5340delTT	10.37:g.16989238_16989239delAA	ENSP00000367064:p.Phe1780fs						p.F1780fs	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			36	5404_5405	-			1780			CUB 12.		B0YIZ4|Q5VTA6|Q96RU9	Frame_Shift_Del	DEL	ENST00000377833.4	37	c.5339_5340delTT	CCDS7113.1																																																																																				0.446	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		17	87						17	87	---	---	---	---
CCDC88B	283234	broad.mit.edu	37	11	64119066	64119068	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr11:64119066_64119068delAGG	ENST00000356786.5	+	18	3121_3123	c.3077_3079delAGG	c.(3076-3081)caggag>cag	p.E1027del	CCDC88B_ENST00000359902.2_In_Frame_Del_p.E179del|CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1027						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAGCGGGCGCAGGAGCACAGCAG	0.68																																						ENST00000356786.5																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(3076-3081)cag>c		coiled-coil domain containing 88B																																				SO:0001651	inframe_deletion	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64119066_64119068delAGG	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.3077_3079delAGG	11.37:g.64119066_64119068delAGG	ENSP00000349238:p.Glu1027del					CCDC88B_ENST00000359902.2_In_Frame_Del_p.QE178del|CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR	p.QE1026del	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN			18	3121_3123	+			1026					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	In_Frame_Del	DEL	ENST00000356786.5	37	c.3077_3079delAGG	CCDS8072.2																																																																																				0.680	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		3	6						3	6	---	---	---	---
KIAA1551	55196	broad.mit.edu	37	12	32136666	32136668	+	In_Frame_Del	DEL	CTT	CTT	-	rs539844931|rs149470712		TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr12:32136666_32136668delCTT	ENST00000312561.4	+	4	3191_3193	c.2777_2779delCTT	c.(2776-2781)ccttct>cct	p.S927del	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	927																	CCACAGAAACCTTCTCTACCCAA	0.374																																						ENST00000312561.4																			0											c.(2776-2781)cct>c		KIAA1551																																				SO:0001651	inframe_deletion	55196							g.chr12:32136666_32136668delCTT	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.2777_2779delCTT	12.37:g.32136666_32136668delCTT	ENSP00000310338:p.Ser927del					KIAA1551_ENST00000535596.1_Intron	p.PS926del	NM_018169.3	NP_060639.3					4	3191_3193	+								B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	In_Frame_Del	DEL	ENST00000312561.4	37	c.2777_2779delCTT	CCDS8725.2																																																																																				0.374	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		19	67						19	67	---	---	---	---
ATF1	466	broad.mit.edu	37	12	51213443	51213445	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr12:51213443_51213445delAAG	ENST00000262053.3	+	7	719_721	c.697_699delAAG	c.(697-699)aagdel	p.K235del	ATF1_ENST00000539132.1_In_Frame_Del_p.K100del	NM_005171.4	NP_005162.1	P18846	ATF1_HUMAN	activating transcription factor 1	235	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular protein complex assembly (GO:0043623)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to cobalt ion (GO:0032025)|response to organic cyclic compound (GO:0014070)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/ATF1(347)|FUS/ATF1(4)	breast(1)|large_intestine(1)|ovary(2)	4					Pseudoephedrine(DB00852)	ATGTCGCAGAAAGAAGAAAGAAT	0.305			T	"""EWSR1, FUS"""	"""malignant melanoma of soft parts , angiomatoid fibrous histiocytoma """																																	ENST00000262053.3				Dom	yes		12	12q13	466	T	activating transcription factor 1			"""E, M"""	"""EWSR1, FUS"""		"""malignant melanoma of soft parts , angiomatoid fibrous histiocytoma """	EWSR1/ATF1(347)|FUS/ATF1(4)	0				breast(1)|large_intestine(1)|ovary(2)	4						c.(697-699)del		activating transcription factor 1																																				SO:0001651	inframe_deletion	466				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway			g.chr12:51213443_51213445delAAG	BC029619	CCDS8803.1	12q13	2014-05-13			ENSG00000123268	ENSG00000123268		"""basic leucine zipper proteins"""	783	protein-coding gene	gene with protein product		123803				8401579	Standard	NM_005171		Approved	TREB36	uc001rww.4	P18846		ENST00000262053.3:c.697_699delAAG	12.37:g.51213446_51213448delAAG	ENSP00000262053:p.Lys235del					ATF1_ENST00000539132.1_In_Frame_Del_p.K100del	p.K235del	NM_005171.4	NP_005162.1	P18846	ATF1_HUMAN			7	719_721	+			235					B4DRF9|P25168|Q9H4A8	In_Frame_Del	DEL	ENST00000262053.3	37	c.697_699delAAG	CCDS8803.1																																																																																				0.305	ATF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404285.1	NM_005171		8	101						8	101	---	---	---	---
PSME1	5720	broad.mit.edu	37	14	24606348	24606351	+	Splice_Site	DEL	ACAG	ACAG	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr14:24606348_24606351delACAG	ENST00000206451.6	+	3	177		c.e3-1		RP11-468E2.5_ENST00000558478.1_lincRNA|PSME1_ENST00000470718.1_Splice_Site|PSME1_ENST00000559123.1_Splice_Site|EMC9_ENST00000558200.1_5'Flank|PSME1_ENST00000561435.1_Splice_Site|PSME1_ENST00000382708.3_Splice_Site	NM_001281528.1|NM_006263.2	NP_001268457.1|NP_006254.1	Q06323	PSME1_HUMAN	proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome activator complex (GO:0008537)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(265;0.00831)		CACCTCACACACAGACAGAGAACC	0.574																																						ENST00000382708.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.e3-1		proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)																																				SO:0001630	splice_region_variant	5720				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|proteasome activator complex		g.chr14:24606348_24606351delACAG		CCDS9612.1, CCDS41930.1, CCDS61415.1	14q11.2	2008-08-29			ENSG00000092010	ENSG00000092010		"""Proteasome (prosome, macropain) subunits"""	9568	protein-coding gene	gene with protein product		600654				8269930	Standard	NM_006263		Approved	IFI5111, PA28alpha	uc001wmh.3	Q06323	OTTHUMG00000028795	ENST00000206451.6:c.73-1ACAG>-	14.37:g.24606352_24606355delACAG						PSME1_ENST00000206451.6_Splice_Site|PSME1_ENST00000470718.1_Splice_Site|PSME1_ENST00000561435.1_Splice_Site|PSME1_ENST00000559123.1_Splice_Site		NM_176783.1	NP_788955.1	Q06323	PSME1_HUMAN		GBM - Glioblastoma multiforme(265;0.00831)	3	135	+								A6NJG9|H0YNE3|Q6IBM2|Q9UEF4	Splice_Site	DEL	ENST00000206451.6	37		CCDS9612.1																																																																																				0.574	PSME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071910.2	NM_006263	Intron	11	259						11	259	---	---	---	---
YLPM1	56252	broad.mit.edu	37	14	75265962	75265963	+	Frame_Shift_Del	DEL	CA	CA	-	rs371578628		TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr14:75265962_75265963delCA	ENST00000325680.7	+	5	4086_4087	c.3962_3963delCA	c.(3961-3963)tcafs	p.S1321fs	YLPM1_ENST00000238571.3_Frame_Shift_Del_p.S1126fs|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1126					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GAACAAGAATCACAGTTTCGTG	0.446																																						ENST00000325680.7																			0				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(3961-3963)tfs		YLP motif containing 1																																				SO:0001589	frameshift_variant	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75265962_75265963delCA	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000325680.7:c.3962_3963delCA	14.37:g.75265964_75265965delCA	ENSP00000324463:p.Ser1321fs					YLPM1_ENST00000238571.3_Frame_Shift_Del_p.S1126fs|YLPM1_ENST00000552421.1_Intron	p.S1321fs	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	5	4086_4087	+			1126					P49752|Q96I64|Q9P1V7	Frame_Shift_Del	DEL	ENST00000325680.7	37	c.3962_3963delCA	CCDS45135.1																																																																																				0.446	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404451.1	NM_019589		8	76						8	76	---	---	---	---
RTF1	23168	broad.mit.edu	37	15	41749919	41749920	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr15:41749919_41749920delAG	ENST00000389629.4	+	4	519_520	c.507_508delAG	c.(505-510)tcagacfs	p.D170fs		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	170	Ser-rich.				DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		GTTCAGATTCAGACTCTTCCTC	0.485																																						ENST00000389629.4																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18						c.(505-510)tcacfs		Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	23168				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding	g.chr15:41749919_41749920delAG	D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"""KIAA0252"""	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.507_508delAG	15.37:g.41749919_41749920delAG	ENSP00000374280:p.Asp170fs						p.SD169fs	NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)	4	519_520	+		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)	169			Ser-rich.		Q96BX6	Frame_Shift_Del	DEL	ENST00000389629.4	37	c.507_508delAG	CCDS32200.2																																																																																				0.485	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258111.1	NM_015138		54	157						54	157	---	---	---	---
TPM1	7168	broad.mit.edu	37	15	63335041	63335043	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr15:63335041_63335043delAAG	ENST00000403994.3	+	1	93_95	c.13_15delAAG	c.(13-15)aagdel	p.K7del	TPM1_ENST00000559556.1_In_Frame_Del_p.K7del|TPM1_ENST00000288398.6_In_Frame_Del_p.K7del|TPM1_ENST00000559397.1_In_Frame_Del_p.K7del|TPM1_ENST00000357980.4_In_Frame_Del_p.K7del|TPM1_ENST00000560445.1_In_Frame_Del_p.K7del|TPM1_ENST00000267996.7_In_Frame_Del_p.K7del|TPM1_ENST00000358278.3_In_Frame_Del_p.K7del	NM_001018005.1	NP_001018005.1	P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	7					cardiac muscle contraction (GO:0060048)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|negative regulation of cell migration (GO:0030336)|positive regulation of ATPase activity (GO:0032781)|positive regulation of cell adhesion (GO:0045785)|positive regulation of heart rate by epinephrine (GO:0003065)|positive regulation of stress fiber assembly (GO:0051496)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|ruffle organization (GO:0031529)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|wound healing (GO:0042060)	bleb (GO:0032059)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|muscle thin filament tropomyosin (GO:0005862)|ruffle membrane (GO:0032587)|sarcomere (GO:0030017)|stress fiber (GO:0001725)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(1)|large_intestine(1)|lung(2)	4						GGACGCCATCAAGAAGAAGATGC	0.69																																						ENST00000357980.4																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(13-15)del		tropomyosin 1 (alpha)																																				SO:0001651	inframe_deletion	7168				cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle	g.chr15:63335041_63335043delAAG	AB209041	CCDS10181.1, CCDS32262.1, CCDS32263.1, CCDS32264.1, CCDS45273.1, CCDS58368.1, CCDS58369.1	15q22.1	2014-09-17			ENSG00000140416	ENSG00000140416		"""Tropomyosins"""	12010	protein-coding gene	gene with protein product		191010	"""chromosome 15 open reading frame 13"", ""cardiomyopathy, hypertrophic 3"""	C15orf13, CMH3		10343096, 8205619	Standard	XM_005254637		Approved		uc002all.3	P09493	OTTHUMG00000132803	ENST00000403994.3:c.13_15delAAG	15.37:g.63335047_63335049delAAG	ENSP00000385107:p.Lys7del					TPM1_ENST00000288398.6_In_Frame_Del_p.K7del|TPM1_ENST00000267996.7_In_Frame_Del_p.K7del|TPM1_ENST00000559556.1_In_Frame_Del_p.K7del|TPM1_ENST00000559397.1_In_Frame_Del_p.K7del|TPM1_ENST00000560445.1_In_Frame_Del_p.K7del|TPM1_ENST00000403994.3_In_Frame_Del_p.K7del|TPM1_ENST00000358278.3_In_Frame_Del_p.K7del	p.K7del			P09493	TPM1_HUMAN			1	92_94	+			7					B7Z5T7|D9YZV2|D9YZV3|D9YZV8|P09494|P10469|Q6DV89|Q6DV90|Q7Z6L8|Q86W64|Q96IK2|Q9UCI1|Q9UCI2|Q9UCY9|Q9Y427	In_Frame_Del	DEL	ENST00000403994.3	37	c.13_15delAAG	CCDS45273.1																																																																																				0.690	TPM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000417083.2	NM_001018004		7	35						7	35	---	---	---	---
ADCY9	115	broad.mit.edu	37	16	4164385	4164387	+	In_Frame_Del	DEL	CTC	CTC	-	rs369684993		TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr16:4164385_4164387delCTC	ENST00000294016.3	-	2	1595_1597	c.1057_1059delGAG	c.(1057-1059)gagdel	p.E353del		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	353					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						AATTCTCACTCTCCTCATCTCCC	0.478																																						ENST00000294016.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1057-1059)del		adenylate cyclase 9																																				SO:0001651	inframe_deletion	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4164385_4164387delCTC	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.1057_1059delGAG	16.37:g.4164388_4164390delCTC	ENSP00000294016:p.Glu353del						p.E353del	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN			2	1595_1597	-			353					A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	In_Frame_Del	DEL	ENST00000294016.3	37	c.1057_1059delGAG	CCDS32382.1																																																																																				0.478	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			44	128						44	128	---	---	---	---
TXNDC11	51061	broad.mit.edu	37	16	11773509	11773512	+	Frame_Shift_Del	DEL	TCTC	TCTC	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr16:11773509_11773512delTCTC	ENST00000356957.3	-	13	2604_2607	c.2497_2500delGAGA	c.(2497-2502)gagatcfs	p.EI833fs	TXNDC11_ENST00000570917.1_5'UTR|TXNDC11_ENST00000283033.5_Frame_Shift_Del_p.EI806fs			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	833					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						AGTTTCTGGATCTCTCTCTCCAAG	0.588																																						ENST00000356957.3																			0				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(2497-2502)tcfs		thioredoxin domain containing 11																																				SO:0001589	frameshift_variant	51061				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane		g.chr16:11773509_11773512delTCTC	BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"""EF-hand binding protein 1"""					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.2497_2500delGAGA	16.37:g.11773513_11773516delTCTC	ENSP00000349439:p.Glu833fs					TXNDC11_ENST00000283033.5_Frame_Shift_Del_p.EI806fs|TXNDC11_ENST00000570917.1_5'UTR	p.EI833fs			Q6PKC3	TXD11_HUMAN			13	2604_2607	-			833					O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Frame_Shift_Del	DEL	ENST00000356957.3	37	c.2497_2500delGAGA																																																																																					0.588	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000437057.1	NM_015914		16	77						16	77	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578275	7578277	+	In_Frame_Del	DEL	GAG	GAG	-	rs587778718		TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr17:7578275_7578277delGAG	ENST00000269305.4	-	6	761_763	c.572_574delCTC	c.(571-576)cctcag>cag	p.P191del	TP53_ENST00000420246.2_In_Frame_Del_p.P191del|TP53_ENST00000413465.2_In_Frame_Del_p.P191del|TP53_ENST00000445888.2_In_Frame_Del_p.P191del|TP53_ENST00000359597.4_In_Frame_Del_p.P191del|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_In_Frame_Del_p.P191del	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	191	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q192*(83)|p.0?(8)|p.P191del(7)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.P191L(2)|p.P191R(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*56(1)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191H(1)|p.P191P(1)|p.P191_Q192delPQ(1)|p.D186_P191delDGLAPP(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192fs*56(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATAAGATGCTGAGGAGGGGCCAG	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		156	Substitution - Nonsense(95)|Deletion - In frame(23)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(6)|Unknown(6)|Substitution - Missense(6)|Insertion - Frameshift(2)|Complex - frameshift(1)|Substitution - coding silent(1)	p.Q192*(83)|p.0?(8)|p.P191del(7)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.P191L(2)|p.P191R(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*56(1)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191H(1)|p.P191P(1)|p.P191_Q192delPQ(1)|p.D186_P191delDGLAPP(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192fs*56(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(1)	breast(27)|ovary(21)|urinary_tract(15)|lung(13)|upper_aerodigestive_tract(12)|large_intestine(9)|skin(9)|oesophagus(8)|biliary_tract(7)|haematopoietic_and_lymphoid_tissue(6)|kidney(6)|stomach(5)|liver(5)|bone(4)|central_nervous_system(3)|pancreas(2)|cervix(1)|endometrium(1)|eye(1)|prostate(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CD972478	TP53	D		c.(571-576)cag>c	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001651	inframe_deletion	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578275_7578277delGAG	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.572_574delCTC	17.37:g.7578278_7578280delGAG	ENSP00000269305:p.Pro191del	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_In_Frame_Del_p.PQ191del|TP53_ENST00000455263.2_In_Frame_Del_p.PQ191del|TP53_ENST00000445888.2_In_Frame_Del_p.PQ191del|TP53_ENST00000269305.4_In_Frame_Del_p.PQ191del|TP53_ENST00000413465.2_In_Frame_Del_p.PQ191del	p.PQ191del	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	704_706	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	191		P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	In_Frame_Del	DEL	ENST00000269305.4	37	c.572_574delCTC	CCDS11118.1																																																																																				0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		11	60						11	60	---	---	---	---
CTD-2532D12.4	0	broad.mit.edu	37	17	71739904	71739904	+	lincRNA	DEL	T	T	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr17:71739904delT	ENST00000583854.1	+	0	166																											ctttccctcctccccttcctc	0.532																																						ENST00000583854.1																			0																																																			0							g.chr17:71739904delT																													17.37:g.71739904delT														0	166	+									RNA	DEL	ENST00000583854.1	37																																																																																						0.532	CTD-2532D12.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000442072.1			2	4						2	4	---	---	---	---
CEP192	55125	broad.mit.edu	37	18	13095576	13095578	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr18:13095576_13095578delCTC	ENST00000325971.8	+	33	6134_6136	c.4541_4543delCTC	c.(4540-4545)tctcct>tct	p.P1515del	CEP192_ENST00000430049.2_In_Frame_Del_p.P1636del|CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000506447.1_In_Frame_Del_p.P2111del			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1515					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CCTCAGGGTTCTCCTCTTCTCTC	0.512																																						ENST00000506447.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6328-6333)tct>t		centrosomal protein 192kDa																																				SO:0001651	inframe_deletion	55125							g.chr18:13095576_13095578delCTC	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.4541_4543delCTC	18.37:g.13095579_13095581delCTC	ENSP00000317156:p.Pro1515del					CEP192_ENST00000325971.8_In_Frame_Del_p.SP1514del|CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_In_Frame_Del_p.SP1635del	p.SP2110del	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			35	6409_6411	+			1705					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	In_Frame_Del	DEL	ENST00000325971.8	37	c.6329_6331delCTC																																																																																					0.512	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		36	182						36	182	---	---	---	---
AP3D1	8943	broad.mit.edu	37	19	2111786	2111788	+	In_Frame_Del	DEL	CTT	CTT	-	rs376574497		TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr19:2111786_2111788delCTT	ENST00000345016.5	-	23	2872_2874	c.2641_2643delAAG	c.(2641-2643)aagdel	p.K881del	AP3D1_ENST00000350812.6_In_Frame_Del_p.K712del|AP3D1_ENST00000355272.6_In_Frame_Del_p.K943del|AP3D1_ENST00000356926.4_In_Frame_Del_p.K840del	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	881	Lys-rich.				anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		tccgctcctccttctccttcctg	0.616																																						ENST00000355272.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(2827-2829)del		adaptor-related protein complex 3, delta 1 subunit																																				SO:0001651	inframe_deletion	8943				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity	g.chr19:2111786_2111788delCTT	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.2641_2643delAAG	19.37:g.2111786_2111788delCTT	ENSP00000344055:p.Lys881del					AP3D1_ENST00000356926.4_In_Frame_Del_p.K840del|AP3D1_ENST00000350812.6_In_Frame_Del_p.K712del|AP3D1_ENST00000345016.5_In_Frame_Del_p.K881del	p.K943del	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	25	3033_3035	-		Hepatocellular(1079;0.137)	883					O00202|O75262|Q59HF5|Q96G11|Q9H3C6	In_Frame_Del	DEL	ENST00000345016.5	37	c.2827_2829delAAG	CCDS42459.1																																																																																				0.616	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1			12	24						12	24	---	---	---	---
CTC-260E6.6	0	broad.mit.edu	37	19	20262850	20262850	+	RNA	DEL	T	T	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr19:20262850delT	ENST00000590606.1	-	0	0				CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA																							TTCttttttcttttttttttt	0.468																																						ENST00000593655.1																			0																																																			0							g.chr19:20262850delT																													19.37:g.20262850delT						CTC-260E6.6_ENST00000586657.1_RNA								0	337	-									RNA	DEL	ENST00000590606.1	37																																																																																						0.468	CTC-260E6.6-005	KNOWN	basic	antisense	antisense	OTTHUMT00000452859.1			2	4						2	4	---	---	---	---
CTC-513N18.6	0	broad.mit.edu	37	19	20635101	20635102	+	lincRNA	INS	-	-	T			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr19:20635101_20635102insT	ENST00000598131.1	+	0	256																											ACAGGTAGGTGTTTTTTTTGCT	0.416																																						ENST00000598131.1																			0																																																			0							g.chr19:20635101_20635102insT																													19.37:g.20635109_20635109dupT														0	256	+									RNA	INS	ENST00000598131.1	37																																																																																						0.416	CTC-513N18.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000463072.1			4	9						4	9	---	---	---	---
CIC	23152	broad.mit.edu	37	19	42796461	42796462	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr19:42796461_42796462delTG	ENST00000575354.2	+	13	3058_3059	c.3018_3019delTG	c.(3016-3021)tatgtgfs	p.V1007fs	CIC_ENST00000572681.2_Frame_Shift_Del_p.V1916fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.V1007fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1007	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.V1007fs*28(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GAATCACCTATGTGCAGTCAGC	0.649			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		1	Deletion - Frameshift(1)	p.V1007fs*28(1)	ovary(1)	autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(5743-5748)tatgfs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42796461_42796462delTG	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.3018_3019delTG	19.37:g.42796463_42796464delTG	ENSP00000458663:p.Val1007fs					CIC_ENST00000575354.2_Frame_Shift_Del_p.YV1006fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.YV1006fs	p.YV1915fs			Q96RK0	CIC_HUMAN			14	5813_5814	+		Prostate(69;0.00682)	1006					Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.5745_5746delTG	CCDS12601.1																																																																																				0.649	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			36	48						36	48	---	---	---	---
ZNF468	90333	broad.mit.edu	37	19	53345269	53345272	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr19:53345269_53345272delTCTT	ENST00000595646.1	-	4	395_398	c.275_278delAAGA	c.(274-279)aaagacfs	p.KD92fs	ZNF468_ENST00000243639.4_3'UTR|ZNF468_ENST00000390651.4_Frame_Shift_Del_p.KD39fs|ZNF468_ENST00000396409.4_Frame_Shift_Del_p.KD39fs|ZNF28_ENST00000594602.1_Intron			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	92					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		GCCATGAATGTCTTTCTCAATTTC	0.436																																						ENST00000595646.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23						c.(274-279)acfs		zinc finger protein 468																																				SO:0001589	frameshift_variant	90333				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53345269_53345272delTCTT	AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"""Zinc fingers, C2H2-type"", ""-"""	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.275_278delAAGA	19.37:g.53345269_53345272delTCTT	ENSP00000470381:p.Lys92fs					ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000396409.4_Frame_Shift_Del_p.KD39fs|ZNF468_ENST00000243639.4_3'UTR|ZNF468_ENST00000390651.4_Frame_Shift_Del_p.KD39fs	p.KD92fs			Q5VIY5	ZN468_HUMAN		GBM - Glioblastoma multiforme(134;0.0358)	4	395_398	-			92					A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Frame_Shift_Del	DEL	ENST00000595646.1	37	c.275_278delAAGA	CCDS33094.1																																																																																				0.436	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463098.1	NM_001008801		19	173						19	173	---	---	---	---
NCOA5	57727	broad.mit.edu	37	20	44691371	44691373	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr20:44691371_44691373delGAG	ENST00000290231.6	-	8	1470_1472	c.1306_1308delCTC	c.(1306-1308)ctcdel	p.L436del		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	436					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TGAAGAGGCTGAGGATTTTGGCC	0.586																																						ENST00000290231.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(1306-1308)del		nuclear receptor coactivator 5																																				SO:0001651	inframe_deletion	57727				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding	g.chr20:44691371_44691373delGAG		CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"""coactivator independent of AF-2"""					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.1306_1308delCTC	20.37:g.44691371_44691373delGAG	ENSP00000290231:p.Leu436del						p.L436del	NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN			8	1470_1472	-		Myeloproliferative disorder(115;0.0122)	436					B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	In_Frame_Del	DEL	ENST00000290231.6	37	c.1306_1308delCTC	CCDS13392.1																																																																																				0.586	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079559.1	NM_020967		9	202						9	202	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11085863	11085864	+	RNA	INS	-	-	C			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr21:11085863_11085864insC	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		catcaccaccaccaccatcacc	0.579																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11085863_11085864insC	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11085865_11085865dupC												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.579	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		3	5						3	5	---	---	---	---
MKL1	57591	broad.mit.edu	37	22	40807847	40807848	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr22:40807847_40807848delTG	ENST00000355630.3	-	15	2932_2933	c.2342_2343delCA	c.(2341-2343)acafs	p.T781fs	MKL1_ENST00000407029.1_Frame_Shift_Del_p.T781fs|MKL1_ENST00000402042.1_Frame_Shift_Del_p.T731fs|MKL1_ENST00000396617.3_Frame_Shift_Del_p.DS784fs	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	781	Pro-rich.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						ACCCACAGACTGTCTTCGGGGA	0.589			T	RBM15	acute megakaryocytic leukemia																																	ENST00000396617.3				Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						c.(2350-2355)gagtfs		megakaryoblastic leukemia (translocation) 1																																				SO:0001589	frameshift_variant	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40807847_40807848delTG	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.2342_2343delCA	22.37:g.40807847_40807848delTG	ENSP00000347847:p.Thr781fs					MKL1_ENST00000355630.3_Frame_Shift_Del_p.T781fs|MKL1_ENST00000402042.1_Frame_Shift_Del_p.T731fs|MKL1_ENST00000407029.1_Frame_Shift_Del_p.T781fs	p.DS784fs			Q969V6	MKL1_HUMAN			15	2942_2943	-			0			Pro-rich.		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Frame_Shift_Del	DEL	ENST00000355630.3	37	c.2352_2353delCA	CCDS14003.1																																																																																				0.589	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		10	292						10	292	---	---	---	---
LAMP2	3920	broad.mit.edu	37	X	119580172	119580173	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chrX:119580172_119580173delAA	ENST00000200639.4	-	6	987_988	c.851_852delTT	c.(850-852)tttfs	p.F284fs	LAMP2_ENST00000538785.1_Frame_Shift_Del_p.F173fs|LAMP2_ENST00000540603.1_Frame_Shift_Del_p.F237fs|LAMP2_ENST00000371335.4_Frame_Shift_Del_p.F284fs|LAMP2_ENST00000434600.2_Frame_Shift_Del_p.F284fs			P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	284	Second lumenal domain.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	enzyme binding (GO:0019899)			endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						CAGCAAAGACAAAGTCTAGATA	0.411																																						ENST00000371335.4																			0				endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						c.(850-852)tfs		lysosomal-associated membrane protein 2																																				SO:0001589	frameshift_variant	0				platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane		g.chrX:119580172_119580173delAA	X77196	CCDS14599.1, CCDS14600.1, CCDS48159.1	Xq24-q25	2014-09-17			ENSG00000005893	ENSG00000005893		"""CD molecules"""	6501	protein-coding gene	gene with protein product		309060					Standard	NM_002294		Approved	CD107b	uc004ess.4	P13473	OTTHUMG00000022301	ENST00000200639.4:c.851_852delTT	X.37:g.119580172_119580173delAA	ENSP00000200639:p.Phe284fs					LAMP2_ENST00000434600.2_Frame_Shift_Del_p.F284fs|LAMP2_ENST00000200639.4_Frame_Shift_Del_p.F284fs|LAMP2_ENST00000538785.1_Frame_Shift_Del_p.F173fs|LAMP2_ENST00000540603.1_Frame_Shift_Del_p.F237fs	p.F284fs	NM_013995.2	NP_054701.1	P13473	LAMP2_HUMAN			6	987_988	-			284			Second lumenal domain.		A8K4X5|D3DTF0|Q16641|Q6Q3G8|Q96J30|Q99534|Q9UD93	Frame_Shift_Del	DEL	ENST00000200639.4	37	c.851_852delTT	CCDS14599.1																																																																																				0.411	LAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058099.1			19	103						19	103	---	---	---	---
ACTRT1	139741	broad.mit.edu	37	X	127185177	127185180	+	Frame_Shift_Del	DEL	ATCT	ATCT	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chrX:127185177_127185180delATCT	ENST00000371124.3	-	1	1202_1205	c.1006_1009delAGAT	c.(1006-1011)agatgcfs	p.RC336fs		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	336						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						GCAGAGAAGCATCTATCAGGAGAA	0.52																																						ENST00000371124.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						c.(1006-1011)gcfs		actin-related protein T1																																				SO:0001589	frameshift_variant	139741					cytoplasm|cytoskeleton		g.chrX:127185177_127185180delATCT	AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.1006_1009delAGAT	X.37:g.127185177_127185180delATCT	ENSP00000360165:p.Arg336fs						p.RC336fs	NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN			1	1202_1205	-			336					Q6X7C1|Q96L10	Frame_Shift_Del	DEL	ENST00000371124.3	37	c.1006_1009delAGAT	CCDS14611.1																																																																																				0.520	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289		27	44						27	44	---	---	---	---
