#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
TPCN2	219931	broad.mit.edu	37	11	68830447	68830447	+	Silent	SNP	G	G	A	rs576860218	byFrequency	TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr11:68830447G>A	ENST00000294309.3	+	6	743	c.642G>A	c.(640-642)ccG>ccA	p.P214P	TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Silent_p.P214P	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	214					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGTCGCTGCCGGAAATGGCCA	0.647													g|||	2	0.000399361	0.0	0.0014	5008	,	,		16754	0.0		0.0	False		,,,				2504	0.001					ENST00000294309.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(640-642)ccG>ccA		two pore segment channel 2							84.0	82.0	83.0					11																	68830447		2200	4294	6494	SO:0001819	synonymous_variant	219931				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity	g.chr11:68830447G>A	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"""Voltage-gated ion channels / Two-pore channels"""	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.642G>A	11.37:g.68830447G>A						TPCN2_ENST00000542467.1_Silent_p.P214P|TPCN2_ENST00000442692.2_3'UTR	p.P214P	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		6	743	+			214					Q9NT82	Silent	SNP	ENST00000294309.3	37	c.642G>A	CCDS8189.1																																																																																				0.647	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075		4	159	0	0	0	0.009096	0	4	159				
POTEC	388468	broad.mit.edu	37	18	14542921	14542921	+	Silent	SNP	G	G	A			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr18:14542921G>A	ENST00000358970.5	-	1	224	c.225C>T	c.(223-225)agC>agT	p.S75S	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	75								p.S75S(1)|p.S75R(1)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGCTCGTGCCGCTCCCCCTGC	0.567																																						ENST00000358970.5																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.S75S(1)|p.S75R(1)	lung(1)|kidney(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(223-225)agC>agT		POTE ankyrin domain family, member C							43.0	53.0	50.0					18																	14542921		692	1591	2283	SO:0001819	synonymous_variant	388468							g.chr18:14542921G>A	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.225C>T	18.37:g.14542921G>A						POTEC_ENST00000389891.4_5'UTR	p.S75S	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			1	224	-			75						Silent	SNP	ENST00000358970.5	37	c.225C>T	CCDS45835.1																																																																																				0.567	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		113	234	0	0	0	0.048971	0	113	234				
ZNF814	730051	broad.mit.edu	37	19	58385748	58385748	+	Missense_Mutation	SNP	G	G	A	rs145250945		TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr19:58385748G>A	ENST00000435989.2	-	3	1244	c.1010C>T	c.(1009-1011)gCt>gTt	p.A337V	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	337					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A337V(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ACTGAAGCTAGCATATTTGCT	0.353																																						ENST00000435989.2																			2	Substitution - Missense(2)	p.A337V(2)	prostate(2)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1009-1011)gCt>gTt		zinc finger protein 814							58.0	51.0	53.0					19																	58385748		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385748G>A		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1010C>T	19.37:g.58385748G>A	ENSP00000410545:p.Ala337Val					ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron	p.A337V	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	1244	-			337					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1010C>T	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	3.777	-0.046344	0.07407	.	.	ENSG00000204514	ENST00000435989	T	0.15372	2.43	2.11	-4.21	0.03812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07728	0.0194	N	0.21142	0.635	0.09310	N	1	B	0.32781	0.384	B	0.18561	0.022	T	0.05649	-1.0872	9	0.66056	D	0.02	.	3.5015	0.07674	0.0936:0.1206:0.3016:0.4843	.	337	B7Z6K7	ZN814_HUMAN	V	337	ENSP00000410545:A337V	ENSP00000410545:A337V	A	-	2	0	ZNF814	63077560	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.230000	0.01207	-3.525000	0.00147	-3.867000	0.00017	GCT		0.353	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		3	13	0	0	0	0.004672	0	3	13				
ZNF652	22834	broad.mit.edu	37	17	47375973	47375973	+	Silent	SNP	C	C	A			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr17:47375973C>A	ENST00000362063.2	-	6	1941	c.1623G>T	c.(1621-1623)cgG>cgT	p.R541R	ZNF652_ENST00000430262.2_Silent_p.R541R	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	541	Mediates interaction with CBFA2T3.|Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			gggggatgggccgagggGGAA	0.597																																						ENST00000362063.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(1621-1623)cgG>cgT		zinc finger protein 652							60.0	65.0	63.0					17																	47375973		2203	4300	6503	SO:0001819	synonymous_variant	22834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr17:47375973C>A	AB023141	CCDS32677.1	17q21.32	2013-01-08				ENSG00000198740		"""Zinc fingers, C2H2-type"""	29147	protein-coding gene	gene with protein product		613907				10231032	Standard	NM_014897		Approved	KIAA0924	uc002iow.3	Q9Y2D9		ENST00000362063.2:c.1623G>T	17.37:g.47375973C>A						ZNF652_ENST00000430262.2_Silent_p.R541R	p.R541R	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)		6	1941	-	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		541			Mediates interaction with CBFA2T3.|Pro-rich.		A4QPD9|Q5H9Q0	Silent	SNP	ENST00000362063.2	37	c.1623G>T	CCDS32677.1																																																																																				0.597	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364524.1	NM_014897		22	30	1	0	1.36565e-18	0.076483	1.58291e-18	22	30				
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	C	rs121913233		TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""	"""infrequent sarcomas, rare other types"""		256	Substitution - Missense(256)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117.0	102.0	107.0					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)				HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R	p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	369	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		61	100	0	0	0	0.048971	0	61	100				
HRCT1	646962	broad.mit.edu	37	9	35906344	35906344	+	Silent	SNP	G	G	A	rs374590028		TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr9:35906344G>A	ENST00000354323.2	+	1	156	c.60G>A	c.(58-60)gcG>gcA	p.A20A		NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	20						integral component of membrane (GO:0016021)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						CTGCTGTGGCGGTCctgctgc	0.657																																						ENST00000354323.2																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						c.(58-60)gcG>gcA		histidine rich carboxyl terminus 1		G		0,4396		0,0,2198	21.0	25.0	24.0		60	-8.3	0.0	9		24	1,8597		0,1,4298	no	coding-synonymous	HRCT1	NM_001039792.1		0,1,6496	AA,AG,GG		0.0116,0.0,0.0077		20/116	35906344	1,12993	2198	4299	6497	SO:0001819	synonymous_variant	646962					integral to membrane		g.chr9:35906344G>A		CCDS35012.1	9p13.3	2008-09-30			ENSG00000196196	ENSG00000196196			33872	protein-coding gene	gene with protein product						12975309	Standard	NM_001039792		Approved	LGLL338, PRO537, UNQ338	uc003zyr.1	Q6UXD1	OTTHUMG00000154146	ENST00000354323.2:c.60G>A	9.37:g.35906344G>A							p.A20A	NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN			1	156	+			20					B7ZBJ1	Silent	SNP	ENST00000354323.2	37	c.60G>A	CCDS35012.1																																																																																				0.657	HRCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334099.1	NM_001039792		3	16	0	0	0	0.004672	0	3	16				
PAX5	5079	broad.mit.edu	37	9	36923382	36923382	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr9:36923382G>A	ENST00000358127.4	-	7	954	c.880C>T	c.(880-882)Cca>Tca	p.P294S	PAX5_ENST00000446742.1_Missense_Mutation_p.P228S|PAX5_ENST00000520281.1_Missense_Mutation_p.P251S|PAX5_ENST00000523241.1_Intron|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000377852.2_Missense_Mutation_p.P294S|PAX5_ENST00000377853.2_Missense_Mutation_p.P294S|PAX5_ENST00000522003.1_Missense_Mutation_p.P186S|PAX5_ENST00000414447.1_Missense_Mutation_p.P251S|PAX5_ENST00000523145.1_Missense_Mutation_p.P186S|PAX5_ENST00000377847.2_Missense_Mutation_p.P294S	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	294					humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	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)	p.?(23)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		TGCGGGCCTGGCACACTGCTC	0.622			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""																																	ENST00000358127.4				Dom	yes		9	9p13	5079	"""T, Mis, D, F, S"""	paired box gene 5 (B-cell lineage specific activator protein)			L	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""		"""NHL, ALL, B-ALL"""	PAX5/JAK2(18)	23	Unknown(23)	p.?(23)	haematopoietic_and_lymphoid_tissue(23)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171						c.(880-882)Cca>Tca		paired box 5							56.0	60.0	59.0					9																	36923382		2203	4300	6503	SO:0001583	missense	5079				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr9:36923382G>A		CCDS6607.1, CCDS65039.1, CCDS65040.1, CCDS65041.1, CCDS65042.1, CCDS65043.1, CCDS65044.1, CCDS65045.1, CCDS65046.1, CCDS65047.1, CCDS65048.1	9p13.2	2011-06-20	2007-07-12		ENSG00000196092	ENSG00000196092		"""Paired boxes"", ""Homeoboxes / PRD class"""	8619	protein-coding gene	gene with protein product	"""B-cell lineage specific activator"""	167414	"""paired box gene 5 (B-cell lineage specific activator protein)"", ""paired box gene 5 (B-cell lineage specific activator)"""			1516825, 8431641	Standard	NM_016734		Approved	BSAP	uc003zzo.1	Q02548	OTTHUMG00000019907	ENST00000358127.4:c.880C>T	9.37:g.36923382G>A	ENSP00000350844:p.Pro294Ser					PAX5_ENST00000377847.2_Missense_Mutation_p.P294S|PAX5_ENST00000377852.2_Missense_Mutation_p.P294S|PAX5_ENST00000377853.2_Missense_Mutation_p.P294S|PAX5_ENST00000523241.1_Intron|PAX5_ENST00000523145.1_Missense_Mutation_p.P186S|PAX5_ENST00000522003.1_Missense_Mutation_p.P186S|PAX5_ENST00000414447.1_Missense_Mutation_p.P251S|PAX5_ENST00000520281.1_Missense_Mutation_p.P251S|PAX5_ENST00000446742.1_Missense_Mutation_p.P228S|PAX5_ENST00000520154.1_Intron	p.P294S	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN		GBM - Glioblastoma multiforme(29;0.0108)	7	954	-		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)	294					A3QVP6|A3QVP7|A3QVP8|C0KTF6|C0KTF7|C0KTF8|C0KTF9|C0KTG0|O75933|Q5SFM2|Q6S728|Q6S729|Q6S730|Q6S731|Q6S732	Missense_Mutation	SNP	ENST00000358127.4	37	c.880C>T	CCDS6607.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.493717	0.26774	.	.	ENSG00000196092	ENST00000358127;ENST00000377849;ENST00000377853;ENST00000377852;ENST00000520281;ENST00000446742;ENST00000522003;ENST00000523145;ENST00000414447;ENST00000377847;ENST00000524340	T;T;D;T;D;T;D;T;D;T	0.97303	1.71;1.71;-3.96;1.71;-3.61;1.71;-2.15;1.71;-4.33;1.71	5.93	5.93	0.95920	.	0.312513	0.35466	N	0.003198	D	0.96288	0.8789	N	0.17674	0.51	0.46113	D	0.998873	B;B;P;B;D;B;B;B	0.71674	0.004;0.051;0.843;0.002;0.998;0.004;0.004;0.004	B;B;B;B;D;B;B;B	0.70016	0.004;0.027;0.388;0.001;0.967;0.004;0.004;0.004	D	0.93155	0.6553	10	0.07644	T	0.81	.	19.1082	0.93305	0.0:0.0:1.0:0.0	.	251;251;228;294;121;294;294;294	C0KTF8;C0KTF7;C0KTF9;C0KTF6;C0KTE2;Q6S730;Q6S731;Q02548	.;.;.;.;.;.;.;PAX5_HUMAN	S	294;205;294;294;251;228;186;186;251;294;121	ENSP00000350844:P294S;ENSP00000367084:P294S;ENSP00000367083:P294S;ENSP00000430773:P251S;ENSP00000404687:P228S;ENSP00000429359:P186S;ENSP00000429197:P186S;ENSP00000412188:P251S;ENSP00000367078:P294S;ENSP00000429404:P121S	ENSP00000350844:P294S	P	-	1	0	PAX5	36913382	1.000000	0.71417	0.992000	0.48379	0.980000	0.70556	5.026000	0.64103	2.805000	0.96524	0.655000	0.94253	CCA		0.622	PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052433.1			4	152	0	0	0	0.009096	0	4	152				
MUC16	94025	broad.mit.edu	37	19	9049457	9049457	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr19:9049457G>C	ENST00000397910.4	-	5	32377	c.32174C>G	c.(32173-32175)cCa>cGa	p.P10725R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10727	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTCATAATTGGAATAGCTGA	0.443																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(32173-32175)cCa>cGa		mucin 16, cell surface associated							239.0	211.0	220.0					19																	9049457		1915	4137	6052	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9049457G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.32174C>G	19.37:g.9049457G>C	ENSP00000381008:p.Pro10725Arg						p.P10725R	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	32377	-			10727			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.32174C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	4.879	0.163394	0.09287	.	.	ENSG00000181143	ENST00000397910	T	0.03242	4.0	3.18	2.1	0.27182	.	.	.	.	.	T	0.07954	0.0199	L	0.36672	1.1	.	.	.	D	0.69078	0.997	P	0.62184	0.899	T	0.18618	-1.0331	8	0.87932	D	0	.	6.6459	0.22934	0.1363:0.0:0.8637:0.0	.	10725	B5ME49	.	R	10725	ENSP00000381008:P10725R	ENSP00000381008:P10725R	P	-	2	0	MUC16	8910457	0.031000	0.19500	0.001000	0.08648	0.043000	0.13939	1.433000	0.34947	0.862000	0.35528	0.479000	0.44913	CCA		0.443	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		159	215	0	0	0	0.048971	0	159	215				
CROCCP2	84809	broad.mit.edu	37	1	16946434	16946434	+	lincRNA	SNP	C	C	T	rs367060	byFrequency	TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr1:16946434C>T	ENST00000412962.1	-	0	1085				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CTCAGCCTTCCGCCGGGCCAG	0.672													.|||	253	0.0505192	0.115	0.0533	5008	,	,		65734	0.0119		0.0437	False		,,,				2504	0.0082					ENST00000412962.1																			0																																																			0							g.chr1:16946434C>T	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946434C>T														0	1085	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		7	30	0	0	0	0.038147	0	7	30				
PIK3C2A	5286	broad.mit.edu	37	11	17144297	17144297	+	Silent	SNP	A	A	G			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr11:17144297A>G	ENST00000265970.7	-	13	2462	c.2463T>C	c.(2461-2463)ccT>ccC	p.P821P	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Silent_p.P441P	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	821	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00041, ECO:0000255|PROSITE- ProRule:PRU00880}.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						TAACTGTTCCAGGAACAGAAT	0.313																																						ENST00000265970.7																			0				central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(2461-2463)ccT>ccC		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	Phosphatidylserine(DB00144)						82.0	82.0	82.0					11																	17144297		2200	4290	6490	SO:0001819	synonymous_variant	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17144297A>G	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.2463T>C	11.37:g.17144297A>G						PIK3C2A_ENST00000540361.1_Silent_p.P441P|PIK3C2A_ENST00000531428.1_Intron	p.P821P	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN			13	2462	-			821					B0LPH2|B4E2G4|Q14CQ9	Silent	SNP	ENST00000265970.7	37	c.2463T>C	CCDS7824.1																																																																																				0.313	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		7	75	0	0	0	0.029380	0	7	75				
STK10	6793	broad.mit.edu	37	5	171517329	171517329	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr5:171517329C>T	ENST00000176763.5	-	10	1935	c.1592G>A	c.(1591-1593)cGc>cAc	p.R531H	STK10_ENST00000517775.1_5'Flank	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	531					cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)	p.R531H(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CACAAATTTGCGTGTCCGCTT	0.502																																						ENST00000176763.5																			1	Substitution - Missense(1)	p.R531H(1)	kidney(1)	breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47						c.(1591-1593)cGc>cAc		serine/threonine kinase 10							249.0	227.0	235.0					5																	171517329		2203	4300	6503	SO:0001583	missense	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171517329C>T	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.1592G>A	5.37:g.171517329C>T	ENSP00000176763:p.Arg531His						p.R531H	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		10	1935	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	531					A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	ENST00000176763.5	37	c.1592G>A	CCDS34290.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.749574	0.89753	.	.	ENSG00000072786	ENST00000176763;ENST00000545839	D	0.82619	-1.63	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	D	0.91499	0.7316	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92997	0.6420	10	0.87932	D	0	.	14.9322	0.70923	0.0:1.0:0.0:0.0	.	531	O94804	STK10_HUMAN	H	531	ENSP00000176763:R531H	ENSP00000176763:R531H	R	-	2	0	STK10	171449934	0.999000	0.42202	0.993000	0.49108	0.911000	0.54048	7.770000	0.85390	2.122000	0.65172	0.455000	0.32223	CGC		0.502	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		5	324	0	0	0	0.029380	0	5	324				
PRKD1	5587	broad.mit.edu	37	14	30066788	30066788	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr14:30066788G>C	ENST00000331968.5	-	16	2572	c.2343C>G	c.(2341-2343)ttC>ttG	p.F781L	PRKD1_ENST00000415220.2_Missense_Mutation_p.F789L	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	781	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CATTAAATGGGAATGTGCCGC	0.438																																						ENST00000331968.5																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78						c.(2341-2343)ttC>ttG		protein kinase D1							153.0	143.0	146.0					14																	30066788		2203	4300	6503	SO:0001583	missense	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30066788G>C		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2343C>G	14.37:g.30066788G>C	ENSP00000333568:p.Phe781Leu					PRKD1_ENST00000415220.2_Missense_Mutation_p.F789L	p.F781L	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	16	2572	-	Hepatocellular(127;0.0604)		781			Protein kinase.		A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	c.2343C>G	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175349	0.78564	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	D;D	0.81659	-1.52;-1.52	5.62	1.91	0.25777	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.68311	0.2987	N	0.02721	-0.515	0.58432	D	0.999999	P	0.41159	0.74	P	0.52758	0.708	T	0.68250	-0.5458	10	0.46703	T	0.11	-26.8609	9.1712	0.37083	0.4272:0.0:0.5728:0.0	.	781	Q15139	KPCD1_HUMAN	L	781;789	ENSP00000333568:F781L;ENSP00000390535:F789L	ENSP00000333568:F781L	F	-	3	2	PRKD1	29136539	0.996000	0.38824	1.000000	0.80357	0.985000	0.73830	0.477000	0.22196	0.647000	0.30713	0.650000	0.86243	TTC		0.438	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		75	79	0	0	0	0.048971	0	75	79				
BMS1P20	96610	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G	rs369741558		TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1				BMS1 pseudogene 20																		CAGATCAAGAAAGCACTCTGA	0.498																																						ENST00000426066.1																			0																																																			0							g.chr22:22664186A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664186A>G								NR_027293.1						0	709	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.498	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	100	0	0	0	0.009096	0	4	100				
MUC5B	727897	broad.mit.edu	37	11	1275535	1275535	+	Missense_Mutation	SNP	A	A	T			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr11:1275535A>T	ENST00000529681.1	+	34	15489	c.15431A>T	c.(15430-15432)gAt>gTt	p.D5144V	MUC5B_ENST00000447027.1_Missense_Mutation_p.D5147V	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5144	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AAGTCCATGGATATCGTCCTC	0.642																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(15439-15441)gAt>gTt		mucin 5B, oligomeric mucus/gel-forming							34.0	41.0	39.0					11																	1275535		2166	4259	6425	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1275535A>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.15431A>T	11.37:g.1275535A>T	ENSP00000436812:p.Asp5144Val					MUC5B_ENST00000529681.1_Missense_Mutation_p.D5144V	p.D5147V			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	34	15498	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	5144			VWFD 4.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.15440A>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	A	11.30	1.599474	0.28534	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000546052;ENST00000406844	T;T	0.16457	2.34;2.53	4.4	1.9	0.25705	.	.	.	.	.	T	0.14356	0.0347	N	0.14661	0.345	0.09310	N	1	D;P	0.53619	0.961;0.891	P;P	0.51701	0.677;0.587	T	0.11567	-1.0582	9	0.87932	D	0	.	6.2598	0.20893	0.7419:0.1635:0.0945:0.0	.	5481;5147	A7Y9J9;E9PBJ0	.;.	V	5144;5147;5088;43;4856	ENSP00000436812:D5144V;ENSP00000415793:D5147V	ENSP00000343037:D5088V	D	+	2	0	MUC5B	1232111	0.012000	0.17670	0.012000	0.15200	0.507000	0.33981	2.113000	0.41902	1.754000	0.51921	0.329000	0.21502	GAT		0.642	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		23	32	0	0	0	0.108266	0	23	32				
PTK2B	2185	broad.mit.edu	37	8	27294958	27294958	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr8:27294958G>A	ENST00000397501.1	+	22	2280	c.1472G>A	c.(1471-1473)gGc>gAc	p.G491D	PTK2B_ENST00000544172.1_Missense_Mutation_p.G491D|PTK2B_ENST00000338238.4_Missense_Mutation_p.G491D|PTK2B_ENST00000420218.2_Missense_Mutation_p.G491D|PTK2B_ENST00000517339.1_Missense_Mutation_p.G491D|PTK2B_ENST00000346049.5_Missense_Mutation_p.G491D|PTK2B_ENST00000397497.4_Missense_Mutation_p.G237D	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	491	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	AAGCTGATCGGCATCATTGAA	0.567																																						ENST00000397501.1																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(1471-1473)gGc>gAc		protein tyrosine kinase 2 beta							108.0	86.0	93.0					8																	27294958		2203	4300	6503	SO:0001583	missense	2185				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	g.chr8:27294958G>A	U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"""protein tyrosine kinase 2 beta"", ""PTK2B protein tyrosine kinase 2 beta"""	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.1472G>A	8.37:g.27294958G>A	ENSP00000380638:p.Gly491Asp					PTK2B_ENST00000420218.2_Missense_Mutation_p.G491D|PTK2B_ENST00000346049.5_Missense_Mutation_p.G491D|PTK2B_ENST00000397497.4_Missense_Mutation_p.G237D|PTK2B_ENST00000517339.1_Missense_Mutation_p.G491D|PTK2B_ENST00000544172.1_Missense_Mutation_p.G491D|PTK2B_ENST00000338238.4_Missense_Mutation_p.G491D	p.G491D	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	22	2280	+		Ovarian(32;2.72e-05)	491			Protein kinase.		D3DST0|Q13475|Q14290|Q16709|Q6PID4	Missense_Mutation	SNP	ENST00000397501.1	37	c.1472G>A	CCDS6057.1	.	.	.	.	.	.	.	.	.	.	G	34	5.295624	0.95574	.	.	ENSG00000120899	ENST00000397501;ENST00000539100;ENST00000338238;ENST00000544172;ENST00000346049;ENST00000420218;ENST00000517339;ENST00000397497	D;D;D;D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47	5.75	5.75	0.90469	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	D	0.95249	0.8459	M	0.87180	2.865	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.97110	1.0;0.998;0.988	D	0.95587	0.8651	10	0.87932	D	0	.	17.43	0.87537	0.0:0.0:1.0:0.0	.	237;491;491	E9PBI4;Q14289-2;Q14289	.;.;FAK2_HUMAN	D	491;496;491;491;491;491;491;237	ENSP00000380638:G491D;ENSP00000342242:G491D;ENSP00000440926:G491D;ENSP00000332816:G491D;ENSP00000391995:G491D;ENSP00000427931:G491D;ENSP00000380634:G237D	ENSP00000342242:G491D	G	+	2	0	PTK2B	27350875	1.000000	0.71417	0.999000	0.59377	0.908000	0.53690	6.644000	0.74338	2.720000	0.93068	0.561000	0.74099	GGC		0.567	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	NM_004103		49	66	0	0	0	0.048971	0	49	66				
IRF5	3663	broad.mit.edu	37	7	128588864	128588864	+	Missense_Mutation	SNP	A	A	T			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr7:128588864A>T	ENST00000402030.2	+	9	1561	c.1489A>T	c.(1489-1491)Atg>Ttg	p.M497L	IRF5_ENST00000249375.4_Missense_Mutation_p.M497L|IRF5_ENST00000473745.1_Missense_Mutation_p.M497L|IRF5_ENST00000477535.1_Missense_Mutation_p.M411L|IRF5_ENST00000357234.5_Missense_Mutation_p.M513L	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	497					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						CCCAGCTGGCATGCAATAACA	0.657																																						ENST00000402030.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						c.(1489-1491)Atg>Ttg		interferon regulatory factor 5							36.0	39.0	38.0					7																	128588864		2203	4300	6503	SO:0001583	missense	3663				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:128588864A>T		CCDS5808.1, CCDS43645.1, CCDS56512.1	7q32	2008-07-18			ENSG00000128604	ENSG00000128604			6120	protein-coding gene	gene with protein product		607218					Standard	XM_005250317		Approved		uc003vog.3	Q13568	OTTHUMG00000158410	ENST00000402030.2:c.1489A>T	7.37:g.128588864A>T	ENSP00000385352:p.Met497Leu					IRF5_ENST00000477535.1_Missense_Mutation_p.M411L|IRF5_ENST00000357234.5_Missense_Mutation_p.M513L|IRF5_ENST00000473745.1_Missense_Mutation_p.M497L|IRF5_ENST00000249375.4_Missense_Mutation_p.M497L	p.M497L	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN			9	1561	+			497					A4D1J8|A8DUA8|A8DUA9|E7EQ16|E7EW54|Q1A7B4|Q64GA9|Q64GB1|Q64GB2|Q6RCM8|Q9BQF0	Missense_Mutation	SNP	ENST00000402030.2	37	c.1489A>T	CCDS5808.1	.	.	.	.	.	.	.	.	.	.	A	12.95	2.090064	0.36855	.	.	ENSG00000128604	ENST00000357234;ENST00000477535;ENST00000402030;ENST00000249375;ENST00000473745;ENST00000412326	D;D;D;D;D	0.97138	-4.26;-4.23;-4.25;-4.25;-4.25	5.73	5.73	0.89815	.	0.963128	0.08515	N	0.934286	D	0.95965	0.8686	L	0.54323	1.7	0.36884	D	0.889568	B;B;B	0.26744	0.068;0.158;0.092	B;B;B	0.26202	0.031;0.046;0.067	D	0.91994	0.5605	10	0.87932	D	0	-20.7332	13.9759	0.64273	1.0:0.0:0.0:0.0	.	411;497;513	E7EW54;Q13568;Q13568-2	.;IRF5_HUMAN;.	L	513;411;497;497;497;487	ENSP00000349770:M513L;ENSP00000419950:M411L;ENSP00000385352:M497L;ENSP00000249375:M497L;ENSP00000419149:M497L	ENSP00000249375:M497L	M	+	1	0	IRF5	128376100	1.000000	0.71417	0.999000	0.59377	0.034000	0.12701	3.282000	0.51693	2.179000	0.69175	0.533000	0.62120	ATG		0.657	IRF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350934.1	NM_001098627		44	46	0	0	0	0.048971	0	44	46				
WEE2	494551	broad.mit.edu	37	7	141420816	141420816	+	Silent	SNP	A	A	T			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr7:141420816A>T	ENST00000397541.2	+	5	1246	c.840A>T	c.(838-840)gcA>gcT	p.A280A	WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000486906.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000484172.1_RNA|WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	280	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					CCTCATGGGCAGAAGATGACC	0.413																																						ENST00000397541.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						c.(838-840)gcA>gcT		WEE1 homolog 2 (S. pombe)							138.0	127.0	130.0					7																	141420816		1894	4120	6014	SO:0001819	synonymous_variant	494551				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr7:141420816A>T	AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.840A>T	7.37:g.141420816A>T						WEE2-AS1_ENST00000488785.1_RNA	p.A280A	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN			5	1246	+	Melanoma(164;0.0171)		280			Protein kinase.			Silent	SNP	ENST00000397541.2	37	c.840A>T	CCDS43660.1																																																																																				0.413	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1	NM_001105558		93	86	0	0	0	0.048971	0	93	86				
WDR38	401551	broad.mit.edu	37	9	127617941	127617941	+	Silent	SNP	T	T	C	rs546571014	byFrequency	TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr9:127617941T>C	ENST00000373574.1	+	3	275	c.219T>C	c.(217-219)ccT>ccC	p.P73P		NM_001045476.1|NM_001276374.1	NP_001038941.1|NP_001263303.1	Q5JTN6	WDR38_HUMAN	WD repeat domain 38	73					hematopoietic progenitor cell differentiation (GO:0002244)					breast(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						GCTTCTCCCCTGATGGCCACC	0.642																																						ENST00000373574.1																			0				breast(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						c.(217-219)ccT>ccC		WD repeat domain 38							52.0	59.0	57.0					9																	127617941		2095	4224	6319	SO:0001819	synonymous_variant	401551							g.chr9:127617941T>C		CCDS43876.1, CCDS75898.1, CCDS75899.1	9q33.3	2013-01-09			ENSG00000136918	ENSG00000136918		"""WD repeat domain containing"""	23745	protein-coding gene	gene with protein product							Standard	NM_001276375		Approved		uc011lzo.3	Q5JTN6	OTTHUMG00000020664	ENST00000373574.1:c.219T>C	9.37:g.127617941T>C							p.P73P	NM_001045476.1|NM_001276374.1	NP_001038941.1|NP_001263303.1	Q5JTN6	WDR38_HUMAN			3	275	+			73					A0PK24	Silent	SNP	ENST00000373574.1	37	c.219T>C	CCDS43876.1																																																																																				0.642	WDR38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054048.1	NM_001045476		3	106	0	0	0	0.004672	0	3	106				
UBR4	23352	broad.mit.edu	37	1	19420477	19420477	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr1:19420477C>A	ENST00000375254.3	-	95	13930	c.13903G>T	c.(13903-13905)Gtg>Ttg	p.V4635L	UBR4_ENST00000429347.2_Missense_Mutation_p.V158L|UBR4_ENST00000467272.2_5'UTR|UBR4_ENST00000543981.1_Missense_Mutation_p.V299L|UBR4_ENST00000375226.2_Missense_Mutation_p.V4611L|UBR4_ENST00000375267.2_Missense_Mutation_p.V4635L|UBR4_ENST00000375217.2_Missense_Mutation_p.V4628L|UBR4_ENST00000375224.1_Missense_Mutation_p.V342L	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4635					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AATCGCTCCACCAAGATCTGC	0.463																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(13903-13905)Gtg>Ttg		ubiquitin protein ligase E3 component n-recognin 4							92.0	84.0	87.0					1																	19420477		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19420477C>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.13903G>T	1.37:g.19420477C>A	ENSP00000364403:p.Val4635Leu					UBR4_ENST00000429347.2_Missense_Mutation_p.V158L|UBR4_ENST00000375224.1_Missense_Mutation_p.V342L|UBR4_ENST00000467272.2_5'UTR|UBR4_ENST00000375217.2_Missense_Mutation_p.V4628L|UBR4_ENST00000375226.2_Missense_Mutation_p.V4611L|UBR4_ENST00000543981.1_Missense_Mutation_p.V299L|UBR4_ENST00000375254.3_Missense_Mutation_p.V4635L	p.V4635L			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	95	13906	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	4635					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.13903G>T	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.092940	0.76756	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000375224;ENST00000429347;ENST00000543981	T;T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;1.18;1.18;1.18	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.78027	0.4219	M	0.64170	1.965	0.80722	D	1	P;P;P;P	0.49185	0.92;0.92;0.92;0.902	D;D;D;P	0.68192	0.935;0.935;0.956;0.893	T	0.76995	-0.2752	10	0.56958	D	0.05	.	18.7785	0.91922	0.0:1.0:0.0:0.0	.	299;158;4635;4611	B4DYV5;B4DPF6;Q5T4S7;Q5T4S7-3	.;.;UBR4_HUMAN;.	L	4635;4635;4628;4611;342;158;299	ENSP00000364403:V4635L;ENSP00000364416:V4635L;ENSP00000364365:V4628L;ENSP00000364374:V4611L;ENSP00000364372:V342L;ENSP00000394173:V158L;ENSP00000444070:V299L	ENSP00000364365:V4628L	V	-	1	0	UBR4	19293064	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.267000	0.78462	2.785000	0.95823	0.591000	0.81541	GTG		0.463	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		17	26	1	0	4.75885e-15	0.033300	5.39336e-15	17	26				
KIAA2022	340533	broad.mit.edu	37	X	73963336	73963336	+	Missense_Mutation	SNP	A	A	C			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chrX:73963336A>C	ENST00000055682.6	-	3	1667	c.1056T>G	c.(1054-1056)agT>agG	p.S352R		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	352					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TCAGGGCCCCACTCTTAGACT	0.468																																						ENST00000373468.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						c.(1054-1056)agT>agG		KIAA2022							59.0	55.0	56.0					X																	73963336		2203	4299	6502	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73963336A>C		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.1056T>G	X.37:g.73963336A>C	ENSP00000055682:p.Ser352Arg					KIAA2022_ENST00000055682.5_Missense_Mutation_p.S352R	p.S352R			Q5QGS0	K2022_HUMAN			3	1707	-			352					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.1056T>G	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	A	7.196	0.592526	0.13875	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.32515	1.45;1.45	5.93	2.31	0.28768	.	0.901601	0.10006	N	0.727817	T	0.24890	0.0604	L	0.44542	1.39	0.38431	D	0.946445	B	0.02656	0.0	B	0.06405	0.002	T	0.10894	-1.0610	10	0.62326	D	0.03	-3.7851	5.2431	0.15483	0.4481:0.2186:0.3334:0.0	.	352	Q5QGS0	K2022_HUMAN	R	352	ENSP00000362567:S352R;ENSP00000055682:S352R	ENSP00000055682:S352R	S	-	3	2	KIAA2022	73880061	0.414000	0.25408	0.995000	0.50966	0.372000	0.29890	0.174000	0.16743	0.340000	0.23745	0.486000	0.48141	AGT		0.468	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		4	71	0	0	0	0.009096	0	4	71				
OSBPL3	26031	broad.mit.edu	37	7	24901333	24901333	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr7:24901333G>C	ENST00000313367.2	-	10	1377	c.926C>G	c.(925-927)tCa>tGa	p.S309*	OSBPL3_ENST00000396431.1_Nonsense_Mutation_p.S278*|OSBPL3_ENST00000396429.1_Nonsense_Mutation_p.S309*|OSBPL3_ENST00000352860.1_Nonsense_Mutation_p.S278*|OSBPL3_ENST00000409069.1_Nonsense_Mutation_p.S278*|OSBPL3_ENST00000431825.2_Nonsense_Mutation_p.S278*|OSBPL3_ENST00000353930.1_Nonsense_Mutation_p.S309*	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	309					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						ATCTAGTGTTGACAAATTAGG	0.383																																						ENST00000313367.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						c.(925-927)tCa>tGa		oxysterol binding protein-like 3							92.0	99.0	97.0					7																	24901333		2203	4300	6503	SO:0001587	stop_gained	26031				lipid transport		lipid binding|protein binding	g.chr7:24901333G>C	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.926C>G	7.37:g.24901333G>C	ENSP00000315410:p.Ser309*					OSBPL3_ENST00000431825.2_Nonsense_Mutation_p.S278*|OSBPL3_ENST00000396431.1_Nonsense_Mutation_p.S278*|OSBPL3_ENST00000352860.1_Nonsense_Mutation_p.S278*|OSBPL3_ENST00000353930.1_Nonsense_Mutation_p.S309*|OSBPL3_ENST00000409069.1_Nonsense_Mutation_p.S278*|OSBPL3_ENST00000396429.1_Nonsense_Mutation_p.S309*	p.S309*	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN			10	1377	-			309					A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Nonsense_Mutation	SNP	ENST00000313367.2	37	c.926C>G	CCDS5390.1	.	.	.	.	.	.	.	.	.	.	G	42	9.275680	0.99122	.	.	ENSG00000070882	ENST00000313367;ENST00000352860;ENST00000353930;ENST00000431825;ENST00000396431;ENST00000396429;ENST00000409069	.	.	.	5.52	5.52	0.82312	.	0.119651	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-8.5152	19.8046	0.96525	0.0:0.0:1.0:0.0	.	.	.	.	X	309;278;309;278;278;309;278	.	ENSP00000315410:S309X	S	-	2	0	OSBPL3	24867858	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	6.678000	0.74508	2.748000	0.94277	0.655000	0.94253	TCA		0.383	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2			3	145	0	0	0	0.004672	0	3	145				
CACNA2D1	781	broad.mit.edu	37	7	81594936	81594936	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr7:81594936C>T	ENST00000356253.5	-	32	2839	c.2584G>A	c.(2584-2586)Gca>Aca	p.A862T	CACNA2D1_ENST00000535308.1_Missense_Mutation_p.A62T|CACNA2D1_ENST00000356860.3_Missense_Mutation_p.A850T			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	862					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TCATGATTTGCCATCAGAAGA	0.368																																						ENST00000356860.3																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(2548-2550)Gca>Aca		calcium channel, voltage-dependent, alpha 2/delta subunit 1	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						153.0	137.0	143.0					7																	81594936		2203	4300	6503	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81594936C>T	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.2584G>A	7.37:g.81594936C>T	ENSP00000348589:p.Ala862Thr					CACNA2D1_ENST00000356253.5_Missense_Mutation_p.A862T|CACNA2D1_ENST00000535308.1_Missense_Mutation_p.A62T	p.A850T	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN			32	2886	-			862					Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.2548G>A		.	.	.	.	.	.	.	.	.	.	C	16.16	3.043804	0.55003	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000535308	T;T;T	0.72725	-0.68;-0.68;-0.68	5.18	3.14	0.36123	.	0.057555	0.64402	D	0.000001	T	0.53270	0.1786	N	0.14661	0.345	0.37284	D	0.907949	B;B	0.18166	0.026;0.004	B;B	0.20184	0.028;0.015	T	0.58284	-0.7663	10	0.87932	D	0	-12.2631	11.5312	0.50612	0.6155:0.3845:0.0:0.0	.	62;850	B7Z658;P54289-2	.;.	T	850;869;862;62	ENSP00000349320:A850T;ENSP00000348589:A862T;ENSP00000443124:A62T	ENSP00000284088:A869T	A	-	1	0	CACNA2D1	81432872	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.008000	0.63991	1.149000	0.42402	0.591000	0.81541	GCA		0.368	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				46	78	0	0	0	0.048971	0	46	78				
NLRP3	114548	broad.mit.edu	37	1	247586597	247586597	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr1:247586597T>C	ENST00000336119.3	+	2	1095	c.349T>C	c.(349-351)Tgg>Cgg	p.W117R	NLRP3_ENST00000348069.2_Missense_Mutation_p.W117R|NLRP3_ENST00000366497.2_Missense_Mutation_p.W117R|NLRP3_ENST00000391828.3_Missense_Mutation_p.W117R|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.W117R|NLRP3_ENST00000391827.2_Missense_Mutation_p.W117R	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	117					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TGAAGAGGAGTGGATGGGTTT	0.423																																						ENST00000366497.2																			0				NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(349-351)Tgg>Cgg		NLR family, pyrin domain containing 3							206.0	204.0	205.0					1																	247586597		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247586597T>C	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.349T>C	1.37:g.247586597T>C	ENSP00000337383:p.Trp117Arg					NLRP3_ENST00000366496.2_Missense_Mutation_p.W117R|NLRP3_ENST00000336119.3_Missense_Mutation_p.W117R|NLRP3_ENST00000348069.2_Missense_Mutation_p.W117R|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.W117R|NLRP3_ENST00000391827.2_Missense_Mutation_p.W117R	p.W117R	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		3	1129	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	117					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.349T>C	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	T	1.794	-0.478754	0.04414	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.73363	-0.65;-0.67;-0.65;-0.74;-0.67;-0.7	4.1	1.73	0.24493	.	0.165674	0.29486	N	0.012013	T	0.58524	0.2128	L	0.47716	1.5	0.30783	N	0.741742	B;B;B;B;B	0.15141	0.0;0.0;0.001;0.012;0.003	B;B;B;B;B	0.12156	0.0;0.0;0.007;0.007;0.001	T	0.44574	-0.9319	10	0.15952	T	0.53	.	3.5439	0.07821	0.1937:0.106:0.0:0.7003	.	117;117;117;117;117	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	R	117	ENSP00000375704:W117R;ENSP00000355453:W117R;ENSP00000337383:W117R;ENSP00000294752:W117R;ENSP00000355452:W117R;ENSP00000375703:W117R	ENSP00000337383:W117R	W	+	1	0	NLRP3	245653220	1.000000	0.71417	0.967000	0.41034	0.093000	0.18481	1.255000	0.32909	0.362000	0.24319	-0.250000	0.11733	TGG		0.423	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		94	108	0	0	0	0.048971	0	94	108				
NANS	54187	broad.mit.edu	37	9	100845135	100845135	+	Missense_Mutation	SNP	A	A	C			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr9:100845135A>C	ENST00000210444.5	+	6	948	c.878A>C	c.(877-879)aAg>aCg	p.K293T	TRIM14_ENST00000375098.3_Intron|NANS_ENST00000461452.1_3'UTR|TRIM14_ENST00000478530.1_Intron	NM_018946.3	NP_061819.2	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid synthase	293					lipopolysaccharide biosynthetic process (GO:0009103)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	N-acetylneuraminate synthase activity (GO:0050462)|N-acylneuraminate cytidylyltransferase activity (GO:0008781)|N-acylneuraminate-9-phosphate synthase activity (GO:0047444)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				CAGCTGGGCAAGTCTGTGGTG	0.488																																						ENST00000210444.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						c.(877-879)aAg>aCg		N-acetylneuraminic acid synthase							66.0	58.0	61.0					9																	100845135		2203	4300	6503	SO:0001583	missense	54187				lipopolysaccharide biosynthetic process	cytoplasm	N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity	g.chr9:100845135A>C	AF161387	CCDS6733.1	9p24.1-p23	2008-07-31	2008-07-31		ENSG00000095380	ENSG00000095380			19237	protein-coding gene	gene with protein product	"""sialic acid synthase"""	605202				10749855	Standard	NM_018946		Approved	SAS	uc004ayc.3	Q9NR45	OTTHUMG00000020341	ENST00000210444.5:c.878A>C	9.37:g.100845135A>C	ENSP00000210444:p.Lys293Thr					NANS_ENST00000461452.1_3'UTR|TRIM14_ENST00000375098.3_Intron|TRIM14_ENST00000478530.1_Intron	p.K293T	NM_018946.3	NP_061819.2	Q9NR45	SIAS_HUMAN			6	948	+		Acute lymphoblastic leukemia(62;0.0559)	293					B2RE98|Q8WUV9|Q9BWS6|Q9NVD4	Missense_Mutation	SNP	ENST00000210444.5	37	c.878A>C	CCDS6733.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.524750	0.85600	.	.	ENSG00000095380	ENST00000210444	T	0.50277	0.75	5.6	5.6	0.85130	Antifreeze-like/N-acetylneuraminic acid synthase C-terminal (1);Aldolase-type TIM barrel (1);SAF domain (1);	0.000000	0.85682	D	0.000000	T	0.66005	0.2746	M	0.79805	2.47	0.80722	D	1	D	0.54964	0.969	P	0.58013	0.831	T	0.71444	-0.4591	10	0.87932	D	0	-23.0255	14.0504	0.64732	1.0:0.0:0.0:0.0	.	293	Q9NR45	SIAS_HUMAN	T	293	ENSP00000210444:K293T	ENSP00000210444:K293T	K	+	2	0	NANS	99884956	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.930000	0.92872	2.277000	0.76020	0.528000	0.53228	AAG		0.488	NANS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053359.1	NM_018946		32	37	0	0	0	0.045705	0	32	37				
PDE3A	5139	broad.mit.edu	37	12	20799741	20799741	+	Missense_Mutation	SNP	A	A	T			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr12:20799741A>T	ENST00000359062.3	+	12	2462	c.2422A>T	c.(2422-2424)Aat>Tat	p.N808Y	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	808	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	AAAAACGTATAATGTGACAGA	0.398																																						ENST00000359062.3																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58						c.(2422-2424)Aat>Tat		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						161.0	151.0	155.0					12																	20799741		2203	4300	6503	SO:0001583	missense	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20799741A>T		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.2422A>T	12.37:g.20799741A>T	ENSP00000351957:p.Asn808Tyr					PDE3A_ENST00000544307.1_3'UTR	p.N808Y	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			12	2462	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	808			Catalytic (By similarity).		O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.2422A>T	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	A	12.25	1.880376	0.33255	.	.	ENSG00000172572	ENST00000359062	T	0.76709	-1.04	5.84	1.63	0.23807	Metal-dependent phosphohydrolase, HD domain (1);	0.512427	0.21568	N	0.072449	T	0.52025	0.1709	N	0.14661	0.345	0.09310	N	1	B	0.26400	0.148	B	0.26770	0.073	T	0.32375	-0.9909	10	0.09338	T	0.73	.	3.554	0.07857	0.6429:0.1098:0.1341:0.1132	.	808	Q14432	PDE3A_HUMAN	Y	808	ENSP00000351957:N808Y	ENSP00000351957:N808Y	N	+	1	0	PDE3A	20691008	0.000000	0.05858	0.183000	0.23137	0.988000	0.76386	0.335000	0.19806	0.447000	0.26695	0.519000	0.50382	AAT		0.398	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			98	109	0	0	0	0.048971	0	98	109				
CROCCP2	84809	broad.mit.edu	37	1	16946438	16946438	+	lincRNA	SNP	G	G	A	rs28392876	byFrequency	TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr1:16946438G>A	ENST00000412962.1	-	0	1081				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GCCTTCCGCCGGGCCAGCAGC	0.672																																						ENST00000412962.1																			0																																																			0							g.chr1:16946438G>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946438G>A														0	1081	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		7	30	0	0	0	0.038147	0	7	30				
SNRNP27	11017	broad.mit.edu	37	2	70121125	70121125	+	Silent	SNP	C	C	T			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr2:70121125C>T	ENST00000244227.3	+	1	434	c.9C>T	c.(7-9)cgC>cgT	p.R3R	SNRNP27_ENST00000409116.1_Silent_p.R3R	NM_006857.2	NP_006848.1	Q8WVK2	SNR27_HUMAN	small nuclear ribonucleoprotein 27kDa (U4/U6.U5)	3	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						AAATGGGTCGCAGTCGCAGCC	0.542																																						ENST00000244227.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(7-9)cgC>cgT		small nuclear ribonucleoprotein 27kDa (U4/U6.U5)							49.0	53.0	52.0					2																	70121125		2203	4300	6503	SO:0001819	synonymous_variant	11017				mRNA processing|RNA splicing	nucleus	nucleic acid binding	g.chr2:70121125C>T	X76302	CCDS33219.1	2p14	2011-10-11			ENSG00000124380	ENSG00000124380			30240	protein-coding gene	gene with protein product	"""nucleic acid binding protein RY 1"""					7931148	Standard	NM_006857		Approved	RY1	uc002sfw.3	Q8WVK2	OTTHUMG00000152689	ENST00000244227.3:c.9C>T	2.37:g.70121125C>T						SNRNP27_ENST00000409116.1_Silent_p.R3R	p.R3R	NM_006857.2	NP_006848.1	Q8WVK2	SNR27_HUMAN			1	434	+			3			Arg-rich.		Q15410	Silent	SNP	ENST00000244227.3	37	c.9C>T	CCDS33219.1																																																																																				0.542	SNRNP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327369.1	NM_006857		35	35	0	0	0	0.086207	0	35	35				
SLC44A4	80736	broad.mit.edu	37	6	31842511	31842511	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr6:31842511A>G	ENST00000229729.6	-	6	475	c.455T>C	c.(454-456)gTa>gCa	p.V152A	SLC44A4_ENST00000465707.1_5'UTR|SLC44A4_ENST00000544672.1_Missense_Mutation_p.V76A|SLC44A4_ENST00000375562.4_Intron	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	152					acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	ATTCCAGGGTACCCCTGGCAG	0.532																																						ENST00000544672.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35						c.(226-228)gTa>gCa		solute carrier family 44, member 4	Choline(DB00122)						76.0	70.0	72.0					6																	31842511		2203	4300	6503	SO:0001583	missense	80736					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr6:31842511A>G	AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"""Solute carriers"""	13941	protein-coding gene	gene with protein product		606107	"""chromosome 6 open reading frame 29"""	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.455T>C	6.37:g.31842511A>G	ENSP00000229729:p.Val152Ala					SLC44A4_ENST00000465707.1_5'UTR|SLC44A4_ENST00000375562.4_Intron|SLC44A4_ENST00000229729.6_Missense_Mutation_p.V152A	p.V76A	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN			6	523	-			152					A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	Missense_Mutation	SNP	ENST00000229729.6	37	c.227T>C	CCDS4724.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.9|21.9	4.221757|4.221757	0.79464|0.79464	.|.	.|.	ENSG00000204385|ENSG00000204385	ENST00000229729;ENST00000544672|ENST00000414427	T;T|.	0.23147|.	1.92;1.92|.	4.9|4.9	3.71|3.71	0.42584|0.42584	.|.	0.272859|.	0.30969|.	N|.	0.008507|.	T|T	0.28200|0.28200	0.0696|0.0696	L|L	0.48642|0.48642	1.525|1.525	0.29831|0.29831	N|N	0.829989|0.829989	P|.	0.34587|.	0.458|.	B|.	0.39904|.	0.313|.	T|T	0.12426|0.12426	-1.0548|-1.0548	10|5	0.16420|.	T|.	0.52|.	-13.8064|-13.8064	8.7616|8.7616	0.34678|0.34678	0.8085:0.1915:0.0:0.0|0.8085:0.1915:0.0:0.0	.|.	152|.	Q53GD3|.	CTL4_HUMAN|.	A|H	152;76|148	ENSP00000229729:V152A;ENSP00000444109:V76A|.	ENSP00000229729:V152A|.	V|Y	-|-	2|1	0|0	SLC44A4|SLC44A4	31950490|31950490	0.531000|0.531000	0.26338|0.26338	0.724000|0.724000	0.30704|0.30704	0.952000|0.952000	0.60782|0.60782	3.864000|3.864000	0.56024|0.56024	0.980000|0.980000	0.38523|0.38523	0.533000|0.533000	0.62120|0.62120	GTA|TAC		0.532	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076234.3			3	133	0	0	0	0.009096	0	3	133				
C17orf62	79415	broad.mit.edu	37	17	80401693	80401693	+	3'UTR	SNP	C	C	T			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr17:80401693C>T	ENST00000437807.2	-	0	1068				C17orf62_ENST00000583617.1_Missense_Mutation_p.R150H|C17orf62_ENST00000336995.7_Silent_p.P102P|C17orf62_ENST00000306645.5_3'UTR|C17orf62_ENST00000434650.2_3'UTR|C17orf62_ENST00000577436.1_3'UTR|C17orf62_ENST00000342572.8_3'UTR|C17orf62_ENST00000583359.1_5'Flank	NM_001193653.1|NM_001193657.1	NP_001180582.1|NP_001180586.1	Q9BQA9	CQ062_HUMAN	chromosome 17 open reading frame 62							integral component of membrane (GO:0016021)		p.P140P(1)		breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GAATGTGCCACGGGTCCTGTG	0.682																																						ENST00000583617.1																			1	Substitution - coding silent(1)	p.P140P(1)	kidney(1)	breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8						c.(448-450)cGt>cAt		chromosome 17 open reading frame 62																																				SO:0001624	3_prime_UTR_variant	79415					integral to membrane	protein binding	g.chr17:80401693C>T	AK074950	CCDS32776.1, CCDS45817.1	17q25.3	2014-06-09			ENSG00000178927	ENSG00000178927			28672	protein-coding gene	gene with protein product							Standard	NM_001100407		Approved	MGC4368, FLJ90469	uc021ufr.1	Q9BQA9		ENST00000437807.2:c.*187G>A	17.37:g.80401693C>T						C17orf62_ENST00000336995.7_Silent_p.P102P|C17orf62_ENST00000434650.2_3'UTR|C17orf62_ENST00000577436.1_3'UTR|C17orf62_ENST00000437807.2_3'UTR|C17orf62_ENST00000342572.8_3'UTR|C17orf62_ENST00000306645.5_3'UTR	p.R150H			Q9BQA9	CQ062_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		7	504	-	Breast(20;0.00106)|all_neural(118;0.0804)		0					E1B6X3|Q96NR1	Missense_Mutation	SNP	ENST00000437807.2	37	c.449G>A	CCDS32776.1																																																																																				0.682	C17orf62-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443260.1	NM_001033046		5	85	0	0	0	0.021553	0	5	85				
CACNA2D1	781	broad.mit.edu	37	7	81594935	81594935	+	Missense_Mutation	SNP	G	G	T			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr7:81594935G>T	ENST00000356253.5	-	32	2840	c.2585C>A	c.(2584-2586)gCa>gAa	p.A862E	CACNA2D1_ENST00000535308.1_Missense_Mutation_p.A62E|CACNA2D1_ENST00000356860.3_Missense_Mutation_p.A850E			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	862					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	ATCATGATTTGCCATCAGAAG	0.368																																						ENST00000356860.3																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(2548-2550)gCa>gAa		calcium channel, voltage-dependent, alpha 2/delta subunit 1	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						151.0	136.0	141.0					7																	81594935		2203	4300	6503	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81594935G>T	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.2585C>A	7.37:g.81594935G>T	ENSP00000348589:p.Ala862Glu					CACNA2D1_ENST00000356253.5_Missense_Mutation_p.A862E|CACNA2D1_ENST00000535308.1_Missense_Mutation_p.A62E	p.A850E	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN			32	2887	-			862					Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.2549C>A		.	.	.	.	.	.	.	.	.	.	G	18.50	3.636931	0.67130	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000535308	T;T;T	0.73152	-0.72;-0.72;-0.72	5.18	5.18	0.71444	.	0.057555	0.64402	D	0.000001	T	0.61451	0.2348	N	0.22421	0.69	0.45284	D	0.998281	B;B	0.14012	0.009;0.001	B;B	0.16289	0.015;0.008	T	0.59685	-0.7408	10	0.87932	D	0	-12.2631	18.672	0.91514	0.0:0.0:1.0:0.0	.	62;850	B7Z658;P54289-2	.;.	E	850;869;862;62	ENSP00000349320:A850E;ENSP00000348589:A862E;ENSP00000443124:A62E	ENSP00000284088:A869E	A	-	2	0	CACNA2D1	81432871	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.366000	0.79548	2.407000	0.81776	0.591000	0.81541	GCA		0.368	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				46	80	1	0	7.05377e-20	0.048971	8.3661e-20	46	80				
TMEM63A	9725	broad.mit.edu	37	1	226034840	226034842	+	In_Frame_Del	DEL	CTG	CTG	-	rs193031527		TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr1:226034840_226034842delCTG	ENST00000366835.3	-	24	2593_2595	c.2323_2325delCAG	c.(2323-2325)cagdel	p.Q775del	RP11-285F7.2_ENST00000424332.1_RNA	NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	775					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)	p.Q775delQ(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					CACCATAGGTCTGCTGCTGCTGC	0.626																																						ENST00000366835.3																			1	Deletion - In frame(1)	p.Q775delQ(1)	breast(1)	breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(2323-2325)del		transmembrane protein 63A																																				SO:0001651	inframe_deletion	9725					integral to membrane|lysosomal membrane	nucleotide binding	g.chr1:226034840_226034842delCTG		CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"""KIAA0792"""	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.2323_2325delCAG	1.37:g.226034849_226034851delCTG	ENSP00000355800:p.Gln775del						p.Q775del	NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN			24	2593_2595	-	Breast(184;0.197)		775					Q53GI7|Q5TE96|Q8N2U2	In_Frame_Del	DEL	ENST00000366835.3	37	c.2323_2325delCAG	CCDS31042.1																																																																																				0.626	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2	NM_014698		9	219						9	219	---	---	---	---
SRRT	51593	broad.mit.edu	37	7	100473251	100473274	+	In_Frame_Del	DEL	GACAAGTTCAGAAGAGAGCGCAGC	GACAAGTTCAGAAGAGAGCGCAGC	-			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr7:100473251_100473274delGACAAGTTCAGAAGAGAGCGCAGC	ENST00000347433.4	+	2	198_221	c.40_63delGACAAGTTCAGAAGAGAGCGCAGC	c.(40-63)gacaagttcagaagagagcgcagcdel	p.DKFRRERS14del	SRRT_ENST00000457580.2_In_Frame_Del_p.DKFRRERS14del|SRRT_ENST00000388793.4_In_Frame_Del_p.DKFRRERS14del|SRRT_ENST00000432932.1_In_Frame_Del_p.DKFRRERS14del			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	14	Arg-rich.				cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AAGGCGCAGGGACAAGTTCAGAAGAGAGCGCAGCGACTACGACC	0.58																																						ENST00000388793.4																			0				breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(40-63)del		serrate RNA effector molecule homolog (Arabidopsis)																																				SO:0001651	inframe_deletion	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100473251_100473274delGACAAGTTCAGAAGAGAGCGCAGC		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.40_63delGACAAGTTCAGAAGAGAGCGCAGC	7.37:g.100473251_100473274delGACAAGTTCAGAAGAGAGCGCAGC	ENSP00000314491:p.Asp14_Ser21del					SRRT_ENST00000432932.1_In_Frame_Del_p.DKFRRERS14del|SRRT_ENST00000457580.2_In_Frame_Del_p.DKFRRERS14del|SRRT_ENST00000347433.4_In_Frame_Del_p.DKFRRERS14del	p.DKFRRERS14del	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN			2	260_283	+			14			Arg-rich.		A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	In_Frame_Del	DEL	ENST00000347433.4	37	c.40_63delGACAAGTTCAGAAGAGAGCGCAGC	CCDS34709.1																																																																																				0.580	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		39	104						39	104	---	---	---	---
SLC22A20	440044	broad.mit.edu	37	11	64997532	64997532	+	RNA	DEL	T	T	-	rs367710721|rs373775498		TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr11:64997532delT	ENST00000525437.1	+	0	1081							A6NK97	S22AK_HUMAN	solute carrier family 22, member 20						ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						ccttccttcctttccttcctt	0.388																																						ENST00000525437.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8																																														0				ion transport	integral to membrane	transmembrane transporter activity	g.chr11:64997532delT	DQ053017		11q13.1	2014-02-20			ENSG00000197847	ENSG00000197847		"""Solute carriers"""	29867	other	unknown		611696				15369770, 16478971	Standard	NM_001004326		Approved	Oat6, FLJ16331	uc021qlh.1	A6NK97	OTTHUMG00000165615		11.37:g.64997532delT										A6NK97	S22AK_HUMAN			0	1081	+								B9EJB2|Q6ZN88	RNA	DEL	ENST00000525437.1	37																																																																																						0.388	SLC22A20-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000385336.1	NM_001004326		3	5						3	5	---	---	---	---
MALAT1	378938	broad.mit.edu	37	11	65269981	65269984	+	lincRNA	DEL	TTGT	TTGT	-			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr11:65269981_65269984delTTGT	ENST00000534336.1	+	0	4749_4752					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		ATTTTGTAAATTGTTTATTTTAAA	0.309																																						ENST00000534336.1																			0																																																			0							g.chr11:65269981_65269984delTTGT	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65269981_65269984delTTGT								NR_002819.2						0	4749_4752	+									RNA	DEL	ENST00000534336.1	37																																																																																						0.309	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		13	23						13	23	---	---	---	---
SUOX	6821	broad.mit.edu	37	12	56397583	56397583	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr12:56397583delG	ENST00000394109.3	+	3	1134	c.410delG	c.(409-411)tggfs	p.W137fs	SUOX_ENST00000551841.2_Intron|SUOX_ENST00000394115.2_Frame_Shift_Del_p.W137fs|SUOX_ENST00000266971.3_Frame_Shift_Del_p.W137fs|SUOX_ENST00000550478.1_3'UTR|SUOX_ENST00000356124.4_Frame_Shift_Del_p.W137fs|SUOX_ENST00000548274.1_Frame_Shift_Del_p.W137fs			P51687	SUOX_HUMAN	sulfite oxidase	137	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.				cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|sulfite oxidase activity (GO:0008482)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			GAGCCCTTCTGGGCCCTCTAT	0.557																																						ENST00000394109.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15						c.(409-411)tgfs		sulfite oxidase							90.0	91.0	90.0					12																	56397583		2203	4300	6503	SO:0001589	frameshift_variant	6821					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity	g.chr12:56397583delG	BC065193	CCDS8901.2	12q13.13	2011-02-10			ENSG00000139531	ENSG00000139531	1.8.3.1		11460	protein-coding gene	gene with protein product		606887				7599189	Standard	XM_005269112		Approved		uc001siz.3	P51687	OTTHUMG00000128503	ENST00000394109.3:c.410delG	12.37:g.56397583delG	ENSP00000377668:p.Trp137fs					SUOX_ENST00000548274.1_Frame_Shift_Del_p.W137fs|SUOX_ENST00000394115.2_Frame_Shift_Del_p.W137fs|SUOX_ENST00000551841.2_Intron|SUOX_ENST00000356124.4_Frame_Shift_Del_p.W137fs|SUOX_ENST00000550478.1_3'UTR|SUOX_ENST00000266971.3_Frame_Shift_Del_p.W137fs	p.W137fs			P51687	SUOX_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)		3	1134	+			137			Cytochrome b5 heme-binding.			Frame_Shift_Del	DEL	ENST00000394109.3	37	c.410delG	CCDS8901.2																																																																																				0.557	SUOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250309.1	NM_000456		97	126						97	126	---	---	---	---
HAGHL	84264	broad.mit.edu	37	16	778954	778955	+	Frame_Shift_Ins	INS	-	-	G	rs368040005		TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr16:778954_778955insG	ENST00000341413.4	+	7	940_941	c.659_660insG	c.(658-663)gtggggfs	p.VG220fs	HAGHL_ENST00000549114.1_3'UTR|HAGHL_ENST00000564545.1_3'UTR|HAGHL_ENST00000561546.1_Intron|NARFL_ENST00000562862.1_5'Flank|HAGHL_ENST00000564537.1_3'UTR|CCDC78_ENST00000293889.6_5'Flank|HAGHL_ENST00000389703.3_Intron			Q6PII5	HAGHL_HUMAN	hydroxyacylglutathione hydrolase-like	220							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			lung(3)	3		Hepatocellular(780;0.00335)				GGCTTCGGGGTGGGGGGGGCTC	0.668																																					Pancreas(46;538 1326 12403 32360)	ENST00000341413.4																			0				lung(3)	3						c.(658-660)gggfs		hydroxyacylglutathione hydrolase-like				379,308,3295		64,20,231,42,204,1430						-2.2	0.0			7	84,5,7833		4,0,76,1,3,3877	no	intron	HAGHL	NM_032304.2		68,20,307,43,207,5307	A1A1,A1A2,A1R,A2A2,A2R,RR		1.1235,17.2526,6.5188				463,313,11128				SO:0001589	frameshift_variant	84264						hydrolase activity|metal ion binding	g.chr16:778954_778955insG	AK054841	CCDS32354.1	16p13.3	2008-02-05	2003-11-04						14177	protein-coding gene	gene with protein product			"""hydroxyacyl glutathione hydrolase-like"""			12477932	Standard	XM_005255629		Approved	MGC2605	uc002cjo.1	Q6PII5		ENST00000341413.4:c.667dupG	16.37:g.778962_778962dupG	ENSP00000341952:p.Val220fs					HAGHL_ENST00000564545.1_3'UTR|HAGHL_ENST00000549114.1_3'UTR|HAGHL_ENST00000561546.1_Intron|HAGHL_ENST00000389703.3_Intron|HAGHL_ENST00000564537.1_3'UTR	p.G220fs			Q6PII5	HAGHL_HUMAN			7	940_941	+		Hepatocellular(780;0.00335)	220					A6NCC4|D3DU64|Q59FX8|Q96BZ3|Q96NR5|Q96S11|Q9BT45	Frame_Shift_Ins	INS	ENST00000341413.4	37	c.659_660insG																																																																																					0.668	HAGHL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409607.1	NM_032304		3	4						3	4	---	---	---	---
PKD1L2	114780	broad.mit.edu	37	16	81183625	81183629	+	RNA	DEL	TTTTT	TTTTT	-	rs537660277|rs5818322|rs10617579	byFrequency	TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr16:81183625_81183629delTTTTT	ENST00000525539.1	-	0	4553				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TTGTTCACACttttttttttttttt	0.463																																						ENST00000533478.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44								polycystic kidney disease 1-like 2																																						114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81183625_81183629delTTTTT	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81183635_81183639delTTTTT						PKD1L2_ENST00000525539.1_RNA		NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN			0	2609	-								Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	DEL	ENST00000525539.1	37																																																																																						0.463	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			3	3						3	3	---	---	---	---
TMEM199	147007	broad.mit.edu	37	17	26684394	26684395	+	5'Flank	INS	-	-	G	rs202089331|rs17856014	byFrequency	TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr17:26684394_26684395insG	ENST00000292114.3	+	0	0				TMEM199_ENST00000395404.3_5'Flank|POLDIP2_ENST00000003607.4_5'UTR|POLDIP2_ENST00000540200.1_Splice_Site|CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000509083.1_5'Flank	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199							integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		AGAGCGGCTTTGCCACCGGGCC	0.762																																						ENST00000540200.1																			0											c.e1+1		polymerase (DNA-directed), delta interacting protein 2				2770,50		1380,10,20						0.4	0.1		dbSNP_130	4	6440,112		3203,34,39	no	frameshift	POLDIP2	NM_015584.3		4583,44,59	A1A1,A1R,RR		1.7094,1.773,1.7286				9210,162				SO:0001631	upstream_gene_variant	26073					mitochondrial nucleoid|nucleus		g.chr17:26684394_26684395insG	AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 32"""	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498		17.37:g.26684395_26684395dupG	Exception_encountered					POLDIP2_ENST00000003607.4_5'UTR		NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	1	78	-	all_lung(13;0.000354)|Lung NSC(42;0.00115)								Splice_Site	INS	ENST00000292114.3	37		CCDS11228.1																																																																																				0.762	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255676.2	NM_152464		3	5						3	5	---	---	---	---
