#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
LAMA4	3910	broad.mit.edu	37	6	112508668	112508668	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr6:112508668G>C	ENST00000230538.7	-	8	1347	c.950C>G	c.(949-951)aCc>aGc	p.T317S	LAMA4_ENST00000522006.1_Missense_Mutation_p.T310S|LAMA4_ENST00000389463.4_Missense_Mutation_p.T310S|LAMA4_ENST00000424408.2_Missense_Mutation_p.T310S	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	317	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GAGGTAGATGGTGGCGTTGAT	0.537																																						uc003pvu.2																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(949-951)aCc>aGc		Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.							145.0	124.0	131.0					6																	112508668		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112508668G>C		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.950C>G	6.37:g.112508668G>C	ENSP00000230538:p.Thr317Ser		Somatic				LAMA4_uc003pvv.2_Missense_Mutation_p.T310S|LAMA4_uc003pvt.2_Missense_Mutation_p.T310S	p.T317S	NM_001105206	NP_001098676	WXS	Illumina GAIIx	Phase_I	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	7	1259	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	317			Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.950C>G	CCDS43491.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	16.30|16.30|16.30	3.083930|3.083930|3.083930	0.55861|0.55861|0.55861	.|.|.	.|.|.	ENSG00000112769|ENSG00000112769|ENSG00000112769	ENST00000521732|ENST00000368640|ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408;ENST00000454881;ENST00000521398;ENST00000542588	.|.|T;T;T;T;T	.|.|0.30448	.|.|3.02;3.02;3.02;3.02;1.53	5.76|5.76|5.76	5.76|5.76|5.76	0.90799|0.90799|0.90799	.|.|Laminin I (1);	.|.|0.096884	.|.|0.64402	.|.|D	.|.|0.000001	T|T|T	0.29716|0.29716|0.29716	0.0742|0.0742|0.0742	L|L|L	0.46157|0.46157|0.46157	1.445|1.445|1.445	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|P;D	.|.|0.59767	.|.|0.707;0.986	.|.|B;P	.|.|0.53224	.|.|0.427;0.721	T|T|T	0.01010|0.01010|0.01010	-1.1482|-1.1482|-1.1482	5|5|10	.|.|0.16896	.|.|T	.|.|0.51	.|.|.	20.027|20.027|20.027	0.97525|0.97525|0.97525	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|317;310	.|.|Q16363;Q16363-2	.|.|LAMA4_HUMAN;.	Q|A|S	129|121|317;310;310;310;317;317;310	.|.|ENSP00000230538:T317S;ENSP00000429488:T310S;ENSP00000374114:T310S;ENSP00000416470:T310S;ENSP00000430336:T317S	.|.|ENSP00000230538:T317S	H|P|T	-|-|-	3|1|2	2|0|0	LAMA4|LAMA4|LAMA4	112615361|112615361|112615361	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.898000|0.898000|0.898000	0.52572|0.52572|0.52572	7.597000|7.597000|7.597000	0.82733|0.82733|0.82733	2.744000|2.744000|2.744000	0.94065|0.94065|0.94065	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	CAC|CCA|ACC		0.537	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		3	83	0	0	0	1	0	3	83				
AQP6	363	broad.mit.edu	37	12	50367285	50367285	+	Missense_Mutation	SNP	G	G	A	rs370418802		TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr12:50367285G>A	ENST00000315520.5	+	1	666	c.329G>A	c.(328-330)gGg>gAg	p.G110E	AQP6_ENST00000551733.1_Intron	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN	aquaporin 6, kidney specific	110					anion transport (GO:0006820)|excretion (GO:0007588)|odontogenesis (GO:0042476)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	integral component of plasma membrane (GO:0005887)|transport vesicle membrane (GO:0030658)	anion channel activity (GO:0005253)|water channel activity (GO:0015250)			endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						CAGCTGGTGGGGGCCACGGTG	0.677																																						uc001rvr.1																			0				endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						c.(328-330)gGg>gAg		Homo sapiens aquaporin 6, kidney specific (AQP6), mRNA.		G	GLU/GLY	0,4402		0,0,2201	21.0	21.0	21.0		329	4.6	1.0	12		21	1,8597		0,1,4298	no	missense	AQP6	NM_001652.3	98	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	110/283	50367285	1,12999	2201	4299	6500	SO:0001583	missense	363				excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity	g.chr12:50367285G>A	AL137716	CCDS31798.1	12q13	2005-09-20			ENSG00000086159	ENSG00000086159		"""Ion channels / Aquaporins"""	639	protein-coding gene	gene with protein product		601383		AQP2L		8812490	Standard	XM_006719375		Approved		uc001rvr.1	Q13520	OTTHUMG00000133548	ENST00000315520.5:c.329G>A	12.37:g.50367285G>A	ENSP00000320247:p.Gly110Glu		Somatic				AQP6_uc001rvp.1_Intron|AQP6_uc001rvq.1_Non-coding_Transcript	p.G110E	NM_001652	NP_001643	WXS	Illumina GAIIx	Phase_I	Q13520	AQP6_HUMAN			0	1022	+			110						Missense_Mutation	SNP	ENST00000315520.5	37	c.329G>A	CCDS31798.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.608024	0.87258	0.0	1.16E-4	ENSG00000086159	ENST00000315520	D	0.99259	-5.64	4.57	4.57	0.56435	Aquaporin-like (2);	0.109604	0.37304	N	0.002147	D	0.99760	0.9903	H	0.99877	4.88	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96558	0.9413	10	0.87932	D	0	-11.6261	16.4987	0.84252	0.0:0.0:1.0:0.0	.	110	Q13520	AQP6_HUMAN	E	110	ENSP00000320247:G110E	ENSP00000320247:G110E	G	+	2	0	AQP6	48653552	1.000000	0.71417	0.988000	0.46212	0.936000	0.57629	9.476000	0.97823	2.260000	0.74910	0.491000	0.48974	GGG		0.677	AQP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257528.2	NM_001652, NM_053286		7	29	0	0	0	1	0	7	29				
OR14I1	401994	broad.mit.edu	37	1	248845498	248845498	+	Silent	SNP	C	C	T			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr1:248845498C>T	ENST00000342623.3	-	1	131	c.108G>A	c.(106-108)gtG>gtA	p.V36V		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	36			V -> A (in dbSNP:rs4462184).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						TCCCCACCAGCACTGCCAGAT	0.498																																						uc001ieu.1																			0				NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						c.(106-108)gtG>gtA		Homo sapiens olfactory receptor, family 14, subfamily I, member 1 (OR14I1), mRNA.							100.0	85.0	90.0					1																	248845498		2203	4300	6503	SO:0001819	synonymous_variant	401994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248845498C>T		CCDS31125.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000189181	ENSG00000189181		"""GPCR / Class A : Olfactory receptors"""	19575	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BU, member 1"""	OR5BU1P, OR5BU1			Standard	NM_001004734		Approved		uc001ieu.1	A6ND48	OTTHUMG00000040378	ENST00000342623.3:c.108G>A	1.37:g.248845498C>T			Somatic					p.V36V	NM_001004734	NP_001004734	WXS	Illumina GAIIx	Phase_I	A6ND48	O14I1_HUMAN			0	108	-			36		V -> A (in dbSNP:rs4462184).				Silent	SNP	ENST00000342623.3	37	c.108G>A	CCDS31125.1																																																																																				0.498	OR14I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097128.1	NM_001004734		9	41	0	0	0	1	0	9	41				
LAMA5	3911	broad.mit.edu	37	20	60887079	60887079	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr20:60887079G>C	ENST00000252999.3	-	70	9598	c.9532C>G	c.(9532-9534)Cag>Gag	p.Q3178E	LAMA5_ENST00000492698.1_5'Flank	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3178	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			ACACGGCCCTGCTGCAGGGAC	0.637																																						uc002ycq.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(9532-9534)Cag>Gag		Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						50.0	53.0	52.0					20																	60887079		2202	4297	6499	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60887079G>C	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.9532C>G	20.37:g.60887079G>C	ENSP00000252999:p.Gln3178Glu		Somatic				LAMA5_uc021wfw.1_Missense_Mutation_p.Q3178E	p.Q3178E	NM_005560	NP_005551	WXS	Illumina GAIIx	Phase_I	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		69	9599	-	Breast(26;1.57e-08)		3178			Laminin G-like 3.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.9532C>G	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	g	0.695	-0.793071	0.02862	.	.	ENSG00000130702	ENST00000252999	T	0.39592	1.07	4.1	3.12	0.35913	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.719801	0.13824	N	0.360196	T	0.24774	0.0601	L	0.31294	0.92	0.09310	N	0.999997	B	0.02656	0.0	B	0.04013	0.001	T	0.29058	-1.0024	10	0.02654	T	1	.	8.1774	0.31289	0.0:0.1527:0.6291:0.2182	.	3178	O15230	LAMA5_HUMAN	E	3178	ENSP00000252999:Q3178E	ENSP00000252999:Q3178E	Q	-	1	0	LAMA5	60320474	0.000000	0.05858	0.889000	0.34880	0.076000	0.17211	0.103000	0.15292	0.894000	0.36317	0.556000	0.70494	CAG		0.637	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		20	51	0	0	0	1	0	20	51				
TNNC1	7134	broad.mit.edu	37	3	52485804	52485804	+	Silent	SNP	C	C	G			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr3:52485804C>G	ENST00000232975.3	-	4	327	c.273G>C	c.(271-273)ggG>ggC	p.G91G		NM_003280.2	NP_003271.1	P63316	TNNC1_HUMAN	troponin C type 1 (slow)	91					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)|regulation of muscle contraction (GO:0006937)|regulation of muscle filament sliding speed (GO:0032972)|response to metal ion (GO:0010038)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|troponin complex (GO:0005861)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)|troponin I binding (GO:0031013)|troponin T binding (GO:0031014)			endometrium(1)|lung(3)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Felodipine(DB01023)|Levosimendan(DB00922)|Trifluoperazine(DB00831)	CCTCAGATTTCCCTTTGCTGT	0.567																																						uc003deb.3																			0		p.G91W(1)		endometrium(1)|lung(3)|ovary(1)|skin(1)	6						c.(271-273)ggG>ggC		Homo sapiens troponin C type 1 (slow) (TNNC1), mRNA.	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)						203.0	146.0	166.0					3																	52485804		2203	4300	6503	SO:0001819	synonymous_variant	7134				cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding	g.chr3:52485804C>G		CCDS2857.1	3p21.1	2014-09-17	2005-09-12		ENSG00000114854	ENSG00000114854		"""EF-hand domain containing"""	11943	protein-coding gene	gene with protein product		191040	"""troponin C, slow"""	TNNC			Standard	NM_003280		Approved		uc003deb.3	P63316	OTTHUMG00000158572	ENST00000232975.3:c.273G>C	3.37:g.52485804C>G			Somatic					p.G91G	NM_003280	NP_003271	WXS	Illumina GAIIx	Phase_I	P63316	TNNC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	3	299	-			91					O14800|P02590|P04463	Silent	SNP	ENST00000232975.3	37	c.273G>C	CCDS2857.1																																																																																				0.567	TNNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351371.1			4	98	0	0	0	1	0	4	98				
IGFL4	444882	broad.mit.edu	37	19	46543657	46543657	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr19:46543657A>G	ENST00000377697.1	-	3	141	c.88T>C	c.(88-90)Tgc>Cgc	p.C30R	IGFL4_ENST00000595006.1_5'UTR|IGFL4_ENST00000601672.1_5'UTR	NM_001002923.1	NP_001002923.1	Q6B9Z1	IGFL4_HUMAN	IGF-like family member 4	30						extracellular space (GO:0005615)				cervix(1)|kidney(1)|lung(1)	3		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		GCTGGCTGGCATAGCCACAGT	0.602																																						uc002pdy.1																			0				cervix(1)|kidney(1)|lung(1)	3						c.(88-90)Tgc>Cgc		Homo sapiens IGF-like family member 4 (IGFL4), mRNA.							86.0	77.0	80.0					19																	46543657		2203	4300	6503	SO:0001583	missense	444882					extracellular region		g.chr19:46543657A>G	AY672114	CCDS33057.1	19q13.32	2006-07-14							32931	protein-coding gene	gene with protein product		610547				14702039	Standard	NM_001002923		Approved		uc002pdy.1	Q6B9Z1		ENST00000377697.1:c.88T>C	19.37:g.46543657A>G	ENSP00000366926:p.Cys30Arg		Somatic					p.C30R	NM_001002923	NP_001002923	WXS	Illumina GAIIx	Phase_I	Q6B9Z1	IGFL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)	2	142	-		all_neural(266;0.113)|Ovarian(192;0.127)	30						Missense_Mutation	SNP	ENST00000377697.1	37	c.88T>C	CCDS33057.1	.	.	.	.	.	.	.	.	.	.	A	13.97	2.396001	0.42512	.	.	ENSG00000204869	ENST00000377697	T	0.60424	0.19	2.29	1.22	0.21188	.	0.000000	0.35772	U	0.002998	T	0.55242	0.1908	L	0.42245	1.32	0.09310	N	0.999999	D	0.65815	0.995	P	0.55011	0.766	T	0.47420	-0.9119	10	0.87932	D	0	.	5.4081	0.16332	0.706:0.294:0.0:0.0	.	30	Q6B9Z1	IGFL4_HUMAN	R	30	ENSP00000366926:C30R	ENSP00000366926:C30R	C	-	1	0	IGFL4	51235497	0.000000	0.05858	0.001000	0.08648	0.567000	0.35839	0.493000	0.22451	0.327000	0.23409	0.314000	0.21332	TGC		0.602	IGFL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461698.1	NM_001002923		4	91	0	0	0	1	0	4	91				
APBB1	322	broad.mit.edu	37	11	6422860	6422860	+	Missense_Mutation	SNP	G	G	A	rs184224900		TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr11:6422860G>A	ENST00000609360.1	-	10	1546	c.1447C>T	c.(1447-1449)Cgc>Tgc	p.R483C	APBB1_ENST00000299402.6_Missense_Mutation_p.R481C|APBB1_ENST00000608645.1_Missense_Mutation_p.R224C|APBB1_ENST00000608704.1_Missense_Mutation_p.R224C|APBB1_ENST00000529519.1_Missense_Mutation_p.R8C|APBB1_ENST00000609331.1_Missense_Mutation_p.R248C|APBB1_ENST00000389906.2_Missense_Mutation_p.R483C|APBB1_ENST00000530885.1_Missense_Mutation_p.R261C|APBB1_ENST00000311051.3_Missense_Mutation_p.R481C|APBB1_ENST00000608394.1_Missense_Mutation_p.R224C|APBB1_ENST00000608655.1_Missense_Mutation_p.R263C	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	483	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GCCTCACAGCGAAACACGTGG	0.577													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19191	0.0		0.0	False		,,,				2504	0.0				GBM(147;1810 2556 5672 39622)	uc001mdb.1																			0		p.R481L(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(1441-1443)Cgc>Tgc		Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) (APBB1), transcript variant 1, mRNA.							178.0	124.0	142.0					11																	6422860		2201	4296	6497	SO:0001583	missense	322				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	g.chr11:6422860G>A	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.1447C>T	11.37:g.6422860G>A	ENSP00000477213:p.Arg483Cys		Somatic				APBB1_uc001mdd.3_Missense_Mutation_p.R261C|APBB1_uc001mdc.1_Missense_Mutation_p.R481C|APBB1_uc010rab.2_Missense_Mutation_p.R8C|APBB1_uc010rad.2_Missense_Mutation_p.R200C	p.R481C	NM_001164	NP_001155	WXS	Illumina GAIIx	Phase_I	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	8	1541	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	483			PID 1.		A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	37	c.1441C>T		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	19.68	3.872086	0.72180	.	.	ENSG00000166313	ENST00000299402;ENST00000311051;ENST00000389906;ENST00000539758;ENST00000536523;ENST00000544288;ENST00000530885;ENST00000533407	T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07	4.15	4.15	0.48705	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.64402	D	0.000001	T	0.40956	0.1138	M	0.68952	2.095	0.80722	D	1	D;D;D;D	0.89917	1.0;0.982;0.993;0.997	D;P;P;P	0.91635	0.999;0.614;0.78;0.828	T	0.26744	-1.0094	10	0.72032	D	0.01	-9.0566	9.2222	0.37384	0.0:0.0:0.7838:0.2162	.	86;483;261;481	B7Z4M4;O00213;B7Z2Y0;O00213-2	.;APBB1_HUMAN;.;.	C	481;481;483;332;224;248;261;222	ENSP00000299402:R481C;ENSP00000311912:R481C;ENSP00000374556:R483C;ENSP00000433338:R261C;ENSP00000437114:R222C	ENSP00000299402:R481C	R	-	1	0	APBB1	6379436	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.409000	0.80053	2.137000	0.66172	0.591000	0.81541	CGC		0.577	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		7	84	0	0	0	1	0	7	84				
JAKMIP2	9832	broad.mit.edu	37	5	147051354	147051354	+	Nonsense_Mutation	SNP	G	G	A	rs373933909		TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr5:147051354G>A	ENST00000265272.5	-	2	483	c.16C>T	c.(16-18)Cga>Tga	p.R6*	JAKMIP2_ENST00000507386.1_Nonsense_Mutation_p.R6*|JAKMIP2_ENST00000333010.6_Intron	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	6						Golgi apparatus (GO:0005794)				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTTATTTCGCCCTTTCTTG	0.458																																						uc010jgo.1																			0				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64						c.(16-18)Cga>Tga		Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.		G	stop/ARG	0,4406		0,0,2203	139.0	132.0	134.0		16	4.6	1.0	5		134	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	JAKMIP2	NM_014790.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		6/811	147051354	1,13005	2203	4300	6503	SO:0001587	stop_gained	9832					Golgi apparatus		g.chr5:147051354G>A	AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.16C>T	5.37:g.147051354G>A	ENSP00000265272:p.Arg6*		Somatic				JAKMIP2_uc003loq.1_Nonsense_Mutation_p.R6*|JAKMIP2_uc011dbx.1_Intron|JAKMIP2_uc003lor.1_Nonsense_Mutation_p.R6*	p.R6*	NM_014790	NP_055605	WXS	Illumina GAIIx	Phase_I	Q96AA8	JKIP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	164	-			6					A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Nonsense_Mutation	SNP	ENST00000265272.5	37	c.16C>T	CCDS4285.1	.	.	.	.	.	.	.	.	.	.	G	40	8.300251	0.98750	0.0	1.16E-4	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000539401	.	.	.	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2769	0.60191	0.0:0.0:0.8411:0.1589	.	.	.	.	X	6	.	ENSP00000265272:R6X	R	-	1	2	JAKMIP2	147031547	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.186000	0.72026	2.483000	0.83821	0.555000	0.69702	CGA		0.458	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790		11	47	0	0	0	1	0	11	47				
OTOP2	92736	broad.mit.edu	37	17	72926756	72926756	+	Silent	SNP	C	C	A			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr17:72926756C>A	ENST00000580223.1	+	5	1056	c.1026C>A	c.(1024-1026)gtC>gtA	p.V342V	OTOP2_ENST00000331427.4_Silent_p.V342V			Q7RTS6	OTOP2_HUMAN	otopetrin 2	342						integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					CCACCTTGGTCAGCCTGAGCG	0.612																																						uc010wrp.2																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39						c.(1024-1026)gtC>gtA		Homo sapiens otopetrin 2 (OTOP2), mRNA.							55.0	51.0	52.0					17																	72926756		2203	4300	6503	SO:0001819	synonymous_variant	92736					integral to membrane		g.chr17:72926756C>A	BK000567	CCDS11708.1	17q25.3	2006-09-20				ENSG00000183034			19657	protein-coding gene	gene with protein product		607827				12651873	Standard	NM_178160		Approved		uc010wrp.2	Q7RTS6		ENST00000580223.1:c.1026C>A	17.37:g.72926756C>A			Somatic					p.V342V	NM_178160	NP_835454	WXS	Illumina GAIIx	Phase_I	Q7RTS6	OTOP2_HUMAN			5	1118	+	all_lung(278;0.172)|Lung NSC(278;0.207)		342						Silent	SNP	ENST00000580223.1	37	c.1026C>A	CCDS11708.1																																																																																				0.612	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445306.1	NM_178160		15	55	0	0	0	1	0	15	55				
ZNF385D	79750	broad.mit.edu	37	3	21478657	21478657	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr3:21478657T>C	ENST00000281523.2	-	5	996	c.478A>G	c.(478-480)Act>Gct	p.T160A	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	160	Thr-rich.					nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						ATTTCCACAGTTGTCGTCGTT	0.428																																						uc003cce.3																			0				NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						c.(478-480)Act>Gct		Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.							151.0	141.0	144.0					3																	21478657		2203	4300	6503	SO:0001583	missense	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21478657T>C	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"""zinc finger protein 659"""	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.478A>G	3.37:g.21478657T>C	ENSP00000281523:p.Thr160Ala		Somatic				ZNF385D_uc010hfb.1_Non-coding_Transcript	p.T160A	NM_024697	NP_078973	WXS	Illumina GAIIx	Phase_I	Q9H6B1	Z385D_HUMAN			4	886	-			160			Thr-rich.			Missense_Mutation	SNP	ENST00000281523.2	37	c.478A>G	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	T	9.621	1.133937	0.21123	.	.	ENSG00000151789	ENST00000281523	T	0.29917	1.55	5.64	5.64	0.86602	.	0.483859	0.22116	N	0.064401	T	0.16514	0.0397	N	0.08118	0	0.28438	N	0.916948	B	0.09022	0.002	B	0.08055	0.003	T	0.08554	-1.0716	10	0.08837	T	0.75	-19.6756	15.8342	0.78787	0.0:0.0:0.0:1.0	.	160	Q9H6B1	Z385D_HUMAN	A	160	ENSP00000281523:T160A	ENSP00000281523:T160A	T	-	1	0	ZNF385D	21453661	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.454000	0.35178	2.152000	0.67230	0.460000	0.39030	ACT		0.428	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697		14	65	0	0	0	1	0	14	65				
ICMT	23463	broad.mit.edu	37	1	6291980	6291980	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr1:6291980G>T	ENST00000343813.5	-	4	682	c.654C>A	c.(652-654)taC>taA	p.Y218*		NM_012405.3	NP_036537.1	O60725	ICMT_HUMAN	isoprenylcysteine carboxyl methyltransferase	218					C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|multicellular organism growth (GO:0035264)|positive regulation of cell proliferation (GO:0008284)|protein targeting to membrane (GO:0006612)|regulation of Ras protein signal transduction (GO:0046578)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cAMP response element binding protein binding (GO:0008140)|protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity (GO:0004671)			NS(1)|endometrium(2)	3	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CAATACTCCAGTAAAACCACC	0.363																																						uc001amk.3																			0				NS(1)|endometrium(2)	3						c.(652-654)taC>taA		Homo sapiens isoprenylcysteine carboxyl methyltransferase (ICMT), mRNA.							99.0	93.0	95.0					1																	6291980		2202	4300	6502	SO:0001587	stop_gained	23463				protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity	g.chr1:6291980G>T	AF064084	CCDS61.1	1p36	2010-04-29			ENSG00000116237	ENSG00000116237	2.1.1.100		5350	protein-coding gene	gene with protein product	"""protein-S-isoprenylcysteine O-methyltransferase"""	605851				9614111, 10441503	Standard	XM_005263437		Approved	PCCMT, HSTE14, PPMT	uc001amk.3	O60725	OTTHUMG00000001254	ENST00000343813.5:c.654C>A	1.37:g.6291980G>T	ENSP00000343552:p.Tyr218*		Somatic				ICMT_uc001aml.3_Nonsense_Mutation_p.Y122*	p.Y218*	NM_012405	NP_036537	WXS	Illumina GAIIx	Phase_I	O60725	ICMT_HUMAN		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)	3	727	-	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)	218					Q6FHT0	Nonsense_Mutation	SNP	ENST00000343813.5	37	c.654C>A	CCDS61.1	.	.	.	.	.	.	.	.	.	.	G	37	6.250618	0.97412	.	.	ENSG00000116237	ENST00000343813;ENST00000535068	.	.	.	5.92	5.01	0.66863	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0643	0.64819	0.0718:0.0:0.9282:0.0	.	.	.	.	X	218;122	.	ENSP00000343552:Y218X	Y	-	3	2	ICMT	6214567	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.236000	0.72339	1.509000	0.48786	0.655000	0.94253	TAC		0.363	ICMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003681.1	NM_012405		14	60	0	0	0	1	0	14	60				
EPRS	2058	broad.mit.edu	37	1	220198558	220198558	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr1:220198558C>G	ENST00000366923.3	-	7	935	c.666G>C	c.(664-666)caG>caC	p.Q222H		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	222	Glutamate--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	CCTGGTAGTGCTGGTTCAGAA	0.318																																						uc001hly.1																			0				breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63						c.(664-666)caG>caC		Homo sapiens glutamyl-prolyl-tRNA synthetase (EPRS), mRNA.	L-Glutamic Acid(DB00142)|L-Proline(DB00172)						117.0	112.0	114.0					1																	220198558		2203	4300	6503	SO:0001583	missense	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|RNA binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding	g.chr1:220198558C>G	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.666G>C	1.37:g.220198558C>G	ENSP00000355890:p.Gln222His		Somatic				RNU5F-1_uc021pjd.1_Intron|EPRS_uc010puf.1_5'UTR|EPRS_uc001hlz.1_Missense_Mutation_p.Q222H|EPRS_uc009xdt.1_Missense_Mutation_p.Q23H	p.Q222H	NM_004446	NP_004437	WXS	Illumina GAIIx	Phase_I	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	6	936	-			222			Glutamyl-tRNA synthetase.		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	c.666G>C	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665484	0.88251	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	T	0.23552	1.9	5.63	5.63	0.86233	Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.46502	0.1396	L	0.55990	1.75	0.80722	D	1	D;B;D	0.71674	0.998;0.096;0.997	D;B;D	0.72625	0.978;0.051;0.962	T	0.33929	-0.9849	10	0.87932	D	0	-21.218	15.2435	0.73488	0.0:0.9306:0.0:0.0694	.	222;222;222	F5H7I7;Q3KQZ8;P07814	.;.;SYEP_HUMAN	H	222	ENSP00000355890:Q222H	ENSP00000355890:Q222H	Q	-	3	2	EPRS	218265181	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.732000	0.62029	2.814000	0.96858	0.591000	0.81541	CAG		0.318	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		3	45	0	0	0	1	0	3	45				
R3HCC1L	27291	broad.mit.edu	37	10	99968514	99968514	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr10:99968514G>T	ENST00000298999.3	+	5	946	c.643G>T	c.(643-645)Gag>Tag	p.E215*	R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000370584.3_Nonsense_Mutation_p.E215*	NM_014472.4	NP_055287	Q7Z5L2	R3HCL_HUMAN	R3H domain and coiled-coil containing 1-like	215							nucleotide binding (GO:0000166)										CAAGGTTTTGGAGATACTATA	0.358																																						uc001kox.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)	20						c.(643-645)Gag>Tag		Homo sapiens chromosome 10 open reading frame 28 (C10orf28), mRNA.							59.0	61.0	61.0					10																	99968514		2203	4300	6503	SO:0001587	stop_gained	27291						nucleotide binding	g.chr10:99968514G>T	AF525304	CCDS31267.1, CCDS58093.1, CCDS73178.1	10q24.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166024	ENSG00000166024			23512	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 28"""	C10orf28			Standard	NM_014472		Approved	GIDRP86, PSORT	uc001kox.4	Q7Z5L2	OTTHUMG00000018873	ENST00000298999.3:c.643G>T	10.37:g.99968514G>T	ENSP00000298999:p.Glu215*		Somatic				C10orf28_uc001kow.4_Nonsense_Mutation_p.E215*|C10orf28_uc001koy.4_Nonsense_Mutation_p.E215*|C10orf28_uc009xvx.3_Nonsense_Mutation_p.E215*|C10orf28_uc009xvy.3_Intron|C10orf28_uc001koz.4_Intron	p.E215*	NM_014472	NP_055287	WXS	Illumina GAIIx	Phase_I	Q4KMY3	Q4KMY3_HUMAN		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)	4	993	+		Colorectal(252;0.234)	215					O60598|Q5W0B4|Q5W0B5|Q86VT9|Q8N9H0	Nonsense_Mutation	SNP	ENST00000298999.3	37	c.643G>T	CCDS31267.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.224136	0.58668	.	.	ENSG00000166024	ENST00000370584;ENST00000538495;ENST00000298999	.	.	.	5.56	3.71	0.42584	.	0.293965	0.29253	N	0.012689	.	.	.	.	.	.	0.21020	N	0.999807	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.9428	8.471	0.32986	0.1789:0.0:0.8211:0.0	.	.	.	.	X	215	.	.	E	+	1	0	C10orf28	99958504	0.106000	0.21978	0.001000	0.08648	0.017000	0.09413	2.022000	0.41030	0.719000	0.32188	0.655000	0.94253	GAG		0.358	R3HCC1L-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049764.1	NM_014472		23	22	0	0	0	1	0	23	22				
CES5A	221223	broad.mit.edu	37	16	55886942	55886942	+	Splice_Site	SNP	T	T	A			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr16:55886942T>A	ENST00000290567.9	-	10	1247		c.e10-2		CES5A_ENST00000541580.1_Splice_Site|CES5A_ENST00000518005.1_Splice_Site|CES5A_ENST00000319165.9_Splice_Site|CES5A_ENST00000520435.1_Splice_Site|CES5A_ENST00000521992.1_Splice_Site	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A							extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CGGGATGTGCTGTAAAAATAT	0.458																																						uc021tir.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.e11-1		Homo sapiens carboxylesterase 5A (CES5A), transcript variant 3, mRNA.							95.0	89.0	91.0					16																	55886942		2198	4300	6498	SO:0001630	splice_region_variant	221223					extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55886942T>A	AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"""Carboxylesterases"""	26459	protein-coding gene	gene with protein product			"""carboxylesterase 7"""	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.1126-2A>T	16.37:g.55886942T>A			Somatic				CES5A_uc002eip.2_Splice_Site_p.H376_splice|CES5A_uc002eio.2_Splice_Site_p.H376_splice|CES5A_uc002eiq.2_Splice_Site_p.H137_splice|CES5A_uc002eir.2_Splice_Site_p.H270_splice	p.H405_splice	NM_001190158	NP_001177087	WXS	Illumina GAIIx	Phase_I	Q6NT32	EST5A_HUMAN			11	1359	-			376					B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Splice_Site	SNP	ENST00000290567.9	37	c.1213_splice	CCDS45490.1	.	.	.	.	.	.	.	.	.	.	T	13.77	2.337228	0.41398	.	.	ENSG00000159398	ENST00000521992;ENST00000319165;ENST00000518005;ENST00000290567;ENST00000520435;ENST00000541580	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.094	0.59180	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CES5A	54444443	0.999000	0.42202	0.642000	0.29436	0.014000	0.08584	4.226000	0.58606	1.980000	0.57719	0.369000	0.22263	.		0.458	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024	Intron	5	78	0	0	0	1	0	5	78				
FOXK2	3607	broad.mit.edu	37	17	80544992	80544992	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr17:80544992C>T	ENST00000335255.5	+	8	1804	c.1630C>T	c.(1630-1632)Cgg>Tgg	p.R544W	RP13-638C3.3_ENST00000575085.1_RNA	NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	544					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			CACTGCCAGCCGGATCATTCA	0.488																																						uc002kfn.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17						c.(1630-1632)Cgg>Tgg		Homo sapiens forkhead box K2 (FOXK2), mRNA.							84.0	79.0	81.0					17																	80544992		2203	4300	6503	SO:0001583	missense	3607				embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:80544992C>T	U58196	CCDS11813.1	17q25	2006-12-15	2004-03-09	2004-03-10	ENSG00000141568	ENSG00000141568		"""Forkhead boxes"""	6036	protein-coding gene	gene with protein product		147685	"""interleukin enhancer binding factor 1"""	ILF, ILF1		3260003	Standard	NM_004514		Approved		uc002kfn.3	Q01167	OTTHUMG00000140374	ENST00000335255.5:c.1630C>T	17.37:g.80544992C>T	ENSP00000335677:p.Arg544Trp		Somatic				FOXK2_uc002kfm.1_Missense_Mutation_p.R544W|FOXK2_uc010diu.3_Intron	p.R544W	NM_004514	NP_004505	WXS	Illumina GAIIx	Phase_I	Q01167	FOXK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)		7	1801	+	Breast(20;0.00106)|all_neural(118;0.0952)		544					A6NEP5|Q13622|Q13623|Q13624	Missense_Mutation	SNP	ENST00000335255.5	37	c.1630C>T	CCDS11813.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735131	0.69189	.	.	ENSG00000141568	ENST00000535184;ENST00000335255	D	0.95918	-3.85	5.18	4.21	0.49690	.	0.000000	0.85682	D	0.000000	D	0.96056	0.8715	L	0.43923	1.385	0.53688	D	0.999972	D;D	0.89917	1.0;1.0	D;D	0.77557	0.977;0.99	D	0.95235	0.8346	10	0.37606	T	0.19	.	13.9329	0.64007	0.0:0.927:0.0:0.073	.	544;544	Q01167;Q01167-2	FOXK2_HUMAN;.	W	540;544	ENSP00000335677:R544W	ENSP00000335677:R544W	R	+	1	2	FOXK2	78138281	1.000000	0.71417	0.883000	0.34634	0.443000	0.32047	5.238000	0.65366	1.407000	0.46875	0.655000	0.94253	CGG		0.488	FOXK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277099.2	NM_181430		43	82	0	0	0	1	0	43	82				
ARHGAP36	158763	broad.mit.edu	37	X	130217771	130217771	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chrX:130217771G>A	ENST00000276211.5	+	4	728	c.383G>A	c.(382-384)cGc>cAc	p.R128H	ARHGAP36_ENST00000370921.1_5'UTR|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R116H	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	128					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TTTACCCGCCGCAAGCATCTT	0.562																																						uc004evz.3																			0		p.R128C(2)|p.R127S(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						c.(382-384)cGc>cAc		Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.							133.0	131.0	131.0					X																	130217771		2203	4300	6503	SO:0001583	missense	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130217771G>A		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.383G>A	X.37:g.130217771G>A	ENSP00000276211:p.Arg128His		Somatic				ARHGAP36_uc004ewa.3_Missense_Mutation_p.R116H|ARHGAP36_uc004ewb.3_Missense_Mutation_p.R97H|ARHGAP36_uc004ewc.3_5'UTR	p.R128H	NM_144967	NP_659404	WXS	Illumina GAIIx	Phase_I	Q6ZRI8	RHG36_HUMAN			3	728	+			128					B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	c.383G>A	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.056780	0.36277	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000423277;ENST00000412432	T;T;T	0.12984	2.63;2.63;2.66	4.3	4.3	0.51218	.	0.137816	0.34156	N	0.004215	T	0.10078	0.0247	N	0.24115	0.695	0.80722	D	1	P;P;P	0.50710	0.856;0.938;0.898	B;B;B	0.41723	0.365;0.365;0.201	T	0.03662	-1.1015	10	0.72032	D	0.01	.	11.0712	0.48004	0.0:0.0:1.0:0.0	.	97;116;128	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	H	128;116;80;97	ENSP00000276211:R128H;ENSP00000359960:R116H;ENSP00000408515:R97H	ENSP00000276211:R128H	R	+	2	0	ARHGAP36	130045452	1.000000	0.71417	0.999000	0.59377	0.046000	0.14306	3.734000	0.55037	2.380000	0.81148	0.600000	0.82982	CGC		0.562	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		36	168	0	0	0	1	0	36	168				
WDR33	55339	broad.mit.edu	37	2	128477839	128477839	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr2:128477839G>C	ENST00000322313.4	-	16	1918	c.1760C>G	c.(1759-1761)cCt>cGt	p.P587R		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	587					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TCCTGGAAAAGGCTGGGGTCC	0.493																																						uc002tpg.2																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(1759-1761)cCt>cGt		Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.							93.0	102.0	99.0					2																	128477839		2203	4300	6503	SO:0001583	missense	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128477839G>C		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.1760C>G	2.37:g.128477839G>C	ENSP00000325377:p.Pro587Arg		Somatic					p.P587R	NM_018383	NP_060853	WXS	Illumina GAIIx	Phase_I	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	15	1959	-	Colorectal(110;0.1)		587					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.1760C>G	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.985535	0.35036	.	.	ENSG00000136709	ENST00000322313	D	0.89196	-2.48	5.29	5.29	0.74685	.	0.213149	0.39687	N	0.001297	T	0.77592	0.4153	N	0.08118	0	0.80722	D	1	B	0.34015	0.435	B	0.28385	0.089	T	0.79584	-0.1743	10	0.51188	T	0.08	-4.1823	14.6281	0.68638	0.0:0.0:0.8537:0.1462	.	587	Q9C0J8	WDR33_HUMAN	R	587	ENSP00000325377:P587R	ENSP00000325377:P587R	P	-	2	0	WDR33	128194309	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.530000	0.53539	2.452000	0.82932	0.585000	0.79938	CCT		0.493	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		5	115	0	0	0	1	0	5	115				
ST8SIA1	6489	broad.mit.edu	37	12	22487009	22487009	+	Missense_Mutation	SNP	T	T	C	rs199598750		TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr12:22487009T>C	ENST00000396037.4	-	1	639	c.158A>G	c.(157-159)aAc>aGc	p.N53S	ST8SIA1_ENST00000404299.3_Missense_Mutation_p.N53S|ST8SIA1_ENST00000539510.1_5'UTR|ST8SIA1_ENST00000536558.1_Intron|ST8SIA1_ENST00000381424.3_Missense_Mutation_p.N53S	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	53					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|glycosphingolipid biosynthetic process (GO:0006688)|positive regulation of cell proliferation (GO:0008284)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						CTCTTTCTCGTTGGGCAGCCG	0.662																																						uc001rfo.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						c.(157-159)aAc>aGc		Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 (ST8SIA1), mRNA.		T	SER/ASN	0,4406		0,0,2203	87.0	84.0	85.0		158	4.3	1.0	12		85	1,8599	1.2+/-3.3	0,1,4299	no	missense	ST8SIA1	NM_003034.3	46	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign	53/357	22487009	1,13005	2203	4300	6503	SO:0001583	missense	6489				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr12:22487009T>C	L32867	CCDS8697.1	12p12.1-p11.2	2013-03-01	2003-01-14	2005-02-07	ENSG00000111728	ENSG00000111728	2.4.99.8	"""Sialyltransferases"""	10869	protein-coding gene	gene with protein product	"""ST8Sia I"""	601123	"""sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A"""	SIAT8, SIAT8A		7901202	Standard	NM_003034		Approved		uc001rfo.4	Q92185	OTTHUMG00000169098	ENST00000396037.4:c.158A>G	12.37:g.22487009T>C	ENSP00000379353:p.Asn53Ser		Somatic				ST8SIA1_uc009zix.3_5'UTR	p.N53S	NM_003034	NP_003025	WXS	Illumina GAIIx	Phase_I	Q92185	SIA8A_HUMAN			0	640	-			53					A8K4H6|Q17RL0|Q6PZN5|Q93064	Missense_Mutation	SNP	ENST00000396037.4	37	c.158A>G	CCDS8697.1	.	.	.	.	.	.	.	.	.	.	T	5.178	0.218492	0.09810	0.0	1.16E-4	ENSG00000111728	ENST00000396037;ENST00000541868;ENST00000404299;ENST00000381424	T;T	0.41400	1.99;1.0	4.26	4.26	0.50523	.	0.576822	0.19756	N	0.106763	T	0.29190	0.0726	N	0.25647	0.755	0.80722	D	1	B	0.10296	0.003	B	0.04013	0.001	T	0.06917	-1.0800	10	0.27785	T	0.31	-2.4114	11.5322	0.50616	0.0:0.0:0.0:1.0	.	53	Q92185	SIA8A_HUMAN	S	53;30;53;53	ENSP00000379353:N53S;ENSP00000440292:N30S	ENSP00000261197:N53S	N	-	2	0	ST8SIA1	22378276	0.998000	0.40836	0.998000	0.56505	0.990000	0.78478	2.263000	0.43293	1.887000	0.54652	0.460000	0.39030	AAC		0.662	ST8SIA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402245.2	NM_003034		4	130	0	0	0	1	0	4	130				
CASC4	113201	broad.mit.edu	37	15	44581275	44581275	+	Silent	SNP	C	C	T	rs372220445		TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr15:44581275C>T	ENST00000345795.2	+	1	318	c.48C>T	c.(46-48)ctC>ctT	p.L16L	CASC4_ENST00000429162.2_3'UTR|CASC4_ENST00000299957.6_Silent_p.L16L|CASC4_ENST00000360824.3_Silent_p.L16L	NM_177974.2	NP_816929.1	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	16						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		TGCCCTCTCTCGTGCTGGTGG	0.677																																						uc001ztp.3																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17						c.(46-48)ctC>ctT		Homo sapiens cancer susceptibility candidate 4 (CASC4), transcript variant 1, mRNA.		C	,	1,4395		0,1,2197	48.0	48.0	48.0		48,48	-1.1	1.0	15		48	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous	CASC4	NM_138423.3,NM_177974.2	,	0,1,6495	TT,TC,CC		0.0,0.0227,0.0077	,	16/437,16/381	44581275	1,12991	2198	4298	6496	SO:0001819	synonymous_variant	113201					integral to membrane		g.chr15:44581275C>T	AF103804	CCDS10108.1, CCDS10109.1	15q15.1	2010-11-24			ENSG00000166734	ENSG00000166734			24892	protein-coding gene	gene with protein product						10497265	Standard	NM_138423		Approved	H63, DKFZp459F1927	uc001ztp.3	Q6P4E1	OTTHUMG00000131133	ENST00000345795.2:c.48C>T	15.37:g.44581275C>T			Somatic				CASC4_uc001ztq.3_Silent_p.L16L|CASC4_uc010bdu.2_Non-coding_Transcript|CASC4_uc001zto.2_Silent_p.L16L	p.L16L	NM_138423	NP_612432	WXS	Illumina GAIIx	Phase_I	Q6P4E1	CASC4_HUMAN		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)	0	367	+		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)	16					B4DPZ6|G5E934|Q6UY45|Q96EM1	Silent	SNP	ENST00000345795.2	37	c.48C>T	CCDS10109.1																																																																																				0.677	CASC4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253816.1	NM_138423		42	58	0	0	0	1	0	42	58				
CYP2A13	1553	broad.mit.edu	37	19	41594528	41594528	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr19:41594528C>G	ENST00000330436.3	+	1	152	c.152C>G	c.(151-153)aCa>aGa	p.T51R		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	51					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	CAGCTGAACACAGAGCAGATG	0.602																																						uc002opt.3																			0				breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42						c.(151-153)aCa>aGa		Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA.	Clomipramine(DB01242)|Nicotine(DB00184)						100.0	89.0	93.0					19																	41594528		2203	4300	6503	SO:0001583	missense	1553				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	g.chr19:41594528C>G	U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"""Cytochrome P450s"""	2608	protein-coding gene	gene with protein product		608055	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"""			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.152C>G	19.37:g.41594528C>G	ENSP00000332679:p.Thr51Arg		Somatic					p.T51R	NM_000766	NP_000757	WXS	Illumina GAIIx	Phase_I	Q16696	CP2AD_HUMAN			0	161	+			51					Q53YR8|Q6R569|Q6R570|Q9H2X2	Missense_Mutation	SNP	ENST00000330436.3	37	c.152C>G	CCDS12571.1	.	.	.	.	.	.	.	.	.	.	.	10.92	1.488059	0.26686	.	.	ENSG00000197838	ENST00000330436	T	0.67698	-0.28	3.43	1.13	0.20643	.	0.384091	0.26062	U	0.026574	T	0.48409	0.1498	N	0.03917	-0.325	0.21652	N	0.999605	P	0.52463	0.953	P	0.58577	0.841	T	0.41070	-0.9529	10	0.20519	T	0.43	.	4.0105	0.09621	0.0:0.5723:0.1974:0.2303	.	51	Q16696	CP2AD_HUMAN	R	51	ENSP00000332679:T51R	ENSP00000332679:T51R	T	+	2	0	CYP2A13	46286368	0.000000	0.05858	0.535000	0.28026	0.944000	0.59088	-0.078000	0.11375	0.247000	0.21414	0.444000	0.29173	ACA		0.602	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		11	121	0	0	0	1	0	11	121				
FASTK	10922	broad.mit.edu	37	7	150775088	150775088	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr7:150775088C>A	ENST00000297532.6	-	5	994	c.917G>T	c.(916-918)cGg>cTg	p.R306L	RP11-148K1.12_ENST00000485974.1_RNA|FASTK_ENST00000482571.1_Missense_Mutation_p.R279L|FASTK_ENST00000540185.1_3'UTR|FASTK_ENST00000353841.2_Missense_Mutation_p.R165L|FASTK_ENST00000489884.1_5'UTR	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	306					apoptotic signaling pathway (GO:0097190)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|Fas-activated serine/threonine kinase activity (GO:0033867)|protein serine/threonine kinase activity (GO:0004674)			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		CCCTGCTTCCCGAGCCAGGAT	0.577																																						uc003wix.1																			0				lung(4)|stomach(2)	6						c.(916-918)cGg>cTg		Homo sapiens Fas-activated serine/threonine kinase (FASTK), transcript variant 1, mRNA.							96.0	102.0	100.0					7																	150775088		2203	4300	6503	SO:0001583	missense	10922				apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding	g.chr7:150775088C>A		CCDS5918.1, CCDS5919.1, CCDS59088.1	7q35	2006-07-06			ENSG00000164896	ENSG00000164896			24676	protein-coding gene	gene with protein product		606965				7544399, 15572676	Standard	NM_006712		Approved	FAST	uc003wix.2	Q14296	OTTHUMG00000158694	ENST00000297532.6:c.917G>T	7.37:g.150775088C>A	ENSP00000297532:p.Arg306Leu		Somatic				AK296065_uc011kvf.2_5'Flank|FASTK_uc003wiw.1_Missense_Mutation_p.R67L|FASTK_uc003wiy.1_Missense_Mutation_p.R165L|FASTK_uc003wiz.1_Missense_Mutation_p.R279L|FASTK_uc003wja.1_3'UTR	p.R306L	NM_006712	NP_006703	WXS	Illumina GAIIx	Phase_I	Q14296	FASTK_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)	4	1015	-			306					A8K867|F8VTW9|Q59EM8|Q8IVA0	Missense_Mutation	SNP	ENST00000297532.6	37	c.917G>T	CCDS5918.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.364575	0.41902	.	.	ENSG00000164896	ENST00000483105;ENST00000297530;ENST00000353841;ENST00000297532;ENST00000482571	T;T;T	0.46063	0.88;0.88;0.88	5.09	4.14	0.48551	FAST kinase leucine-rich (1);	0.229900	0.30620	N	0.009234	T	0.17577	0.0422	N	0.02539	-0.55	0.80722	D	1	B;B;B	0.24186	0.099;0.003;0.01	B;B;B	0.26614	0.071;0.008;0.008	T	0.06463	-1.0825	10	0.45353	T	0.12	-23.6467	6.6897	0.23163	0.0:0.7224:0.1823:0.0953	.	279;165;306	F8VTW9;Q8IVA0;Q14296	.;.;FASTK_HUMAN	L	306;306;165;306;279	ENSP00000324817:R165L;ENSP00000297532:R306L;ENSP00000418516:R279L	ENSP00000297530:R306L	R	-	2	0	FASTK	150406021	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	0.868000	0.27982	2.531000	0.85337	0.650000	0.86243	CGG		0.577	FASTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351832.2	NM_006712		4	181	0	0	0	1	0	4	181				
GNAL	2774	broad.mit.edu	37	18	11752905	11752905	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr18:11752905G>A	ENST00000423027.3	+	2	520	c.199G>A	c.(199-201)Gtc>Atc	p.V67I	GNAL_ENST00000535121.1_Missense_Mutation_p.V67I|GNAL_ENST00000334049.6_Missense_Mutation_p.V144I|GNAL_ENST00000269162.5_Missense_Mutation_p.V67I|GNAL_ENST00000590972.1_3'UTR			P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	67					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|response to amphetamine (GO:0001975)|response to caffeine (GO:0031000)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						GATCCTGCACGTCAATGGGTT	0.468																																						uc002kqc.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						c.(430-432)Gtc>Atc		Homo sapiens guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type (GNAL), transcript variant 1, mRNA.							160.0	140.0	147.0					18																	11752905		2203	4300	6503	SO:0001583	missense	2774				activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|adenylate cyclase activity|signal transducer activity	g.chr18:11752905G>A	AF493893	CCDS11851.1, CCDS11852.1, CCDS58614.1	18p11.22-p11.21	2003-12-17			ENSG00000141404	ENSG00000141404			4388	protein-coding gene	gene with protein product		139312				1302014	Standard	NM_182978		Approved		uc002kqc.3	P38405	OTTHUMG00000131660	ENST00000423027.3:c.199G>A	18.37:g.11752905G>A	ENSP00000408489:p.Val67Ile		Somatic				GNAL_uc002kqd.2_Missense_Mutation_p.V67I|GNAL_uc010dkz.2_Missense_Mutation_p.V67I	p.V144I	NM_182978	NP_892023	WXS	Illumina GAIIx	Phase_I	P38405	GNAL_HUMAN			1	857	+			67					B7ZA26|Q86XU3	Missense_Mutation	SNP	ENST00000423027.3	37	c.430G>A	CCDS11852.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681490	0.68042	.	.	ENSG00000141404	ENST00000540217;ENST00000334049;ENST00000535121;ENST00000269162;ENST00000423027	D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36	5.17	5.17	0.71159	G protein alpha subunit, helical insertion (1);	0.113555	0.64402	D	0.000014	D	0.86510	0.5950	L	0.42686	1.345	0.80722	D	1	B;B	0.16603	0.018;0.011	B;B	0.17433	0.018;0.013	T	0.82566	-0.0393	10	0.56958	D	0.05	.	18.8613	0.92273	0.0:0.0:1.0:0.0	.	67;144	P38405;Q86XU3	GNAL_HUMAN;.	I	6;144;67;67;67	ENSP00000334051:V144I;ENSP00000439023:V67I;ENSP00000269162:V67I;ENSP00000408489:V67I	ENSP00000269162:V67I	V	+	1	0	GNAL	11742905	1.000000	0.71417	0.976000	0.42696	0.968000	0.65278	9.150000	0.94667	2.672000	0.90937	0.563000	0.77884	GTC		0.468	GNAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254561.2	NM_182978, NM_002071		14	22	0	0	0	1	0	14	22				
AP1G1	164	broad.mit.edu	37	16	71768593	71768593	+	Silent	SNP	G	G	C			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr16:71768593G>C	ENST00000299980.4	-	22	2727	c.2286C>G	c.(2284-2286)ctC>ctG	p.L762L	AP1G1_ENST00000433195.2_Silent_p.L785L|AP1G1_ENST00000423132.2_Silent_p.L765L|AP1G1_ENST00000564155.1_Silent_p.L187L|AP1G1_ENST00000569748.1_Silent_p.L762L|AP1G1_ENST00000393512.3_Silent_p.L765L	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	762	GAE. {ECO:0000255|PROSITE- ProRule:PRU00093}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				TAGGAGACAAGAGCTGCAGCT	0.463																																						uc002fbb.3																			0				breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28						c.(2353-2355)ctC>ctG		Homo sapiens adaptor-related protein complex 1, gamma 1 subunit (AP1G1), transcript variant 2, mRNA.							183.0	181.0	182.0					16																	71768593		2198	4300	6498	SO:0001819	synonymous_variant	164				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity	g.chr16:71768593G>C	Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"""gamma1-adaptin"""	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.2286C>G	16.37:g.71768593G>C			Somatic				AP1G1_uc021tkz.1_Silent_p.L550L|AP1G1_uc010cgg.3_Silent_p.L762L|AP1G1_uc002faz.3_Silent_p.L179L|AP1G1_uc021tky.1_Silent_p.L765L	p.L785L	NM_001128	NP_001119	WXS	Illumina GAIIx	Phase_I	O43747	AP1G1_HUMAN			24	3166	-		Ovarian(137;0.125)	762			GAE.		O75709|O75842|Q9UG09|Q9Y3U4	Silent	SNP	ENST00000299980.4	37	c.2355C>G	CCDS32480.1																																																																																				0.463	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1			15	316	0	0	0	1	0	15	316				
FSCB	84075	broad.mit.edu	37	14	44973729	44973729	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr14:44973729C>T	ENST00000340446.4	-	1	2753	c.2462G>A	c.(2461-2463)cGt>cAt	p.R821H	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	821						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TTCAGGAGGACGTTGTTTTAA	0.388																																						uc001wvn.3																			0				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89						c.(2461-2463)cGt>cAt		Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.							56.0	60.0	59.0					14																	44973729		2203	4300	6503	SO:0001583	missense	84075					cilium		g.chr14:44973729C>T	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.2462G>A	14.37:g.44973729C>T	ENSP00000344579:p.Arg821His		Somatic					p.R821H	NM_032135	NP_115511	WXS	Illumina GAIIx	Phase_I	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	0	2771	-			821					Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.2462G>A	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.043629	0.36085	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.15952	2.38	4.23	-2.83	0.05769	.	.	.	.	.	T	0.08492	0.0211	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.36529	-0.9744	9	0.87932	D	0	4.2172	0.1932	0.00137	0.2638:0.2604:0.2194:0.2563	.	821	Q5H9T9	FSCB_HUMAN	H	821;714	ENSP00000344579:R821H	ENSP00000344579:R821H	R	-	2	0	FSCB	44043479	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.540000	0.06106	-0.712000	0.04988	-3.305000	0.00045	CGT		0.388	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		4	52	0	0	0	1	0	4	52				
RYR2	6262	broad.mit.edu	37	1	237758830	237758830	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr1:237758830C>A	ENST00000366574.2	+	34	4786	c.4469C>A	c.(4468-4470)gCg>gAg	p.A1490E	RYR2_ENST00000542537.1_Missense_Mutation_p.A1474E|RYR2_ENST00000360064.6_Missense_Mutation_p.A1488E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1490	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.A1488V(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGGTATGTGCGGGTGAGAGC	0.463																																						uc001hyl.1																			1	Substitution - Missense(1)	p.A1488V(1)	haematopoietic_and_lymphoid_tissue(1)	NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(4468-4470)gCg>gAg		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							85.0	89.0	88.0					1																	237758830		2061	4190	6251	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237758830C>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.4469C>A	1.37:g.237758830C>A	ENSP00000355533:p.Ala1490Glu		Somatic					p.A1490E	NM_001035	NP_001026	WXS	Illumina GAIIx	Phase_I	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		33	4589	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1490			4 X approximate repeats.|B30.2/SPRY 3.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.4469C>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.182958	0.57800	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.58060	0.36;0.36;0.36	5.52	5.52	0.82312	SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000006	T	0.66567	0.2802	L	0.56199	1.76	0.80722	D	1	D	0.64830	0.994	D	0.64506	0.926	T	0.68648	-0.5353	10	0.87932	D	0	.	14.9817	0.71316	0.0:0.8578:0.1422:0.0	.	1490	Q92736	RYR2_HUMAN	E	1490;1488;1474	ENSP00000355533:A1490E;ENSP00000353174:A1488E;ENSP00000443798:A1474E	ENSP00000353174:A1488E	A	+	2	0	RYR2	235825453	0.997000	0.39634	0.985000	0.45067	0.997000	0.91878	3.478000	0.53158	2.598000	0.87819	0.655000	0.94253	GCG		0.463	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		8	30	0	0	0	1	0	8	30				
SLITRK3	22865	broad.mit.edu	37	3	164906055	164906055	+	Missense_Mutation	SNP	C	C	T	rs372066939		TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr3:164906055C>T	ENST00000475390.1	-	2	3007	c.2564G>A	c.(2563-2565)gGa>gAa	p.G855E	SLITRK3_ENST00000241274.3_Missense_Mutation_p.G855E			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	855					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TGCCAAGTCTCCCCCAGTTCC	0.567										HNSCC(40;0.11)																												uc003fej.4																			0		p.G854A(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						c.(2563-2565)gGa>gAa		Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.							93.0	89.0	90.0					3																	164906055		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164906055C>T	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2564G>A	3.37:g.164906055C>T	ENSP00000420091:p.Gly855Glu	HNSCC(40;0.11)	Somatic				SLITRK3_uc003fek.3_Missense_Mutation_p.G855E|SLITRK3_uc021xgy.1_Missense_Mutation_p.G855E	p.G855E	NM_014926	NP_055741	WXS	Illumina GAIIx	Phase_I	O94933	SLIK3_HUMAN			1	3008	-			855					Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.2564G>A	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.528910	0.27387	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.59772	0.24;0.24	5.95	4.14	0.48551	.	0.000000	0.36815	N	0.002383	T	0.46483	0.1395	L	0.29908	0.895	0.44825	D	0.997838	B	0.31318	0.319	B	0.26094	0.066	T	0.45338	-0.9268	10	0.72032	D	0.01	-9.1106	15.855	0.78972	0.0:0.6163:0.3837:0.0	.	855	O94933	SLIK3_HUMAN	E	855	ENSP00000420091:G855E;ENSP00000241274:G855E	ENSP00000241274:G855E	G	-	2	0	SLITRK3	166388749	0.998000	0.40836	1.000000	0.80357	0.872000	0.50106	0.650000	0.24858	0.823000	0.34589	0.655000	0.94253	GGA		0.567	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		48	69	0	0	0	1	0	48	69				
NSUN7	79730	broad.mit.edu	37	4	40776343	40776343	+	Missense_Mutation	SNP	A	A	G	rs148671827		TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr4:40776343A>G	ENST00000381782.2	+	5	1045	c.550A>G	c.(550-552)Att>Gtt	p.I184V	NSUN7_ENST00000316607.5_Missense_Mutation_p.I184V|NSUN7_ENST00000463952.1_3'UTR	NM_024677.4	NP_078953	Q8NE18	NSUN7_HUMAN	NOP2/Sun domain family, member 7	184							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						TGCCCTTTCAATTTACCACAT	0.373																																						uc003gvj.4																			0				NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						c.(550-552)Att>Gtt		Homo sapiens NOP2/Sun domain family, member 7 (NSUN7), mRNA.		A	VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	111.0	110.0	110.0		550	5.0	1.0	4	dbSNP_134	110	0,8600		0,0,4300	no	missense	NSUN7	NM_024677.4	29	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	benign	184/719	40776343	1,13005	2203	4300	6503	SO:0001583	missense	79730							g.chr4:40776343A>G	BC036568	CCDS3461.2	4p14	2013-10-11	2009-11-23		ENSG00000179299	ENSG00000179299		"""NOP2/Sun domain containing"""	25857	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family, member 7"""			17442852	Standard	NM_024677		Approved	FLJ14001	uc003gvj.4	Q8NE18	OTTHUMG00000128597	ENST00000381782.2:c.550A>G	4.37:g.40776343A>G	ENSP00000371201:p.Ile184Val		Somatic				NSUN7_uc003gvh.2_Missense_Mutation_p.I184V|NSUN7_uc003gvi.4_Missense_Mutation_p.I184V	p.I184V	NM_024677	NP_078953	WXS	Illumina GAIIx	Phase_I					4	1045	+								C9JI19|Q8N9K8|Q9H815	Missense_Mutation	SNP	ENST00000381782.2	37	c.550A>G	CCDS3461.2	.	.	.	.	.	.	.	.	.	.	A	15.19	2.761276	0.49468	2.27E-4	0.0	ENSG00000179299	ENST00000381782;ENST00000316607	T;T	0.40476	1.03;1.03	5.04	5.04	0.67666	.	0.106801	0.64402	D	0.000006	T	0.43986	0.1272	M	0.63428	1.95	0.41061	D	0.985374	P;P;B	0.49358	0.874;0.923;0.323	P;P;B	0.45794	0.493;0.47;0.227	T	0.37572	-0.9700	10	0.13470	T	0.59	-22.5473	14.7426	0.69467	1.0:0.0:0.0:0.0	.	184;184;184	Q8NE18;Q8NE18-2;Q8NE18-3	NSUN7_HUMAN;.;.	V	184	ENSP00000371201:I184V;ENSP00000319127:I184V	ENSP00000319127:I184V	I	+	1	0	NSUN7	40471100	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.537000	0.73847	2.014000	0.59158	0.459000	0.35465	ATT		0.373	NSUN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250454.2	NM_024677		4	82	0	0	0	1	0	4	82				
RINT1	60561	broad.mit.edu	37	7	105190850	105190850	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr7:105190850G>A	ENST00000257700.2	+	9	1481	c.1250G>A	c.(1249-1251)gGc>gAc	p.G417D		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	417	RINT1/TIP20. {ECO:0000255|PROSITE- ProRule:PRU00717}.				G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AGTGTTCATGGCTATCCTGGC	0.418																																						uc003vda.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1249-1251)gGc>gAc		Homo sapiens RAD50 interactor 1 (RINT1), mRNA.							274.0	245.0	255.0					7																	105190850		2203	4300	6503	SO:0001583	missense	60561				G2/M transition DNA damage checkpoint|cell cycle|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding	g.chr7:105190850G>A	AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.1250G>A	7.37:g.105190850G>A	ENSP00000257700:p.Gly417Asp		Somatic				RINT1_uc010ljj.1_5'UTR	p.G417D	NM_021930	NP_068749	WXS	Illumina GAIIx	Phase_I	Q6NUQ1	RINT1_HUMAN			8	1481	+			417			RINT1/TIP20.		Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Missense_Mutation	SNP	ENST00000257700.2	37	c.1250G>A	CCDS34726.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.477805	0.44044	.	.	ENSG00000135249	ENST00000257700	T	0.29142	1.58	5.36	4.48	0.54585	.	0.148349	0.64402	D	0.000011	T	0.41143	0.1146	M	0.67397	2.05	0.58432	D	0.99999	P	0.37781	0.608	P	0.46685	0.524	T	0.18524	-1.0334	10	0.20519	T	0.43	-3.8483	14.5449	0.68020	0.0709:0.0:0.9291:0.0	.	417	Q6NUQ1	RINT1_HUMAN	D	417	ENSP00000257700:G417D	ENSP00000257700:G417D	G	+	2	0	RINT1	104978086	1.000000	0.71417	0.985000	0.45067	0.965000	0.64279	5.515000	0.67049	1.401000	0.46761	0.563000	0.77884	GGC		0.418	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	NM_021930		12	242	0	0	0	1	0	12	242				
EED	8726	broad.mit.edu	37	11	85977149	85977149	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr11:85977149A>G	ENST00000263360.6	+	8	1437	c.751A>G	c.(751-753)Ata>Gta	p.I251V	EED_ENST00000351625.6_Missense_Mutation_p.I251V|EED_ENST00000327320.4_Missense_Mutation_p.I251V|EED_ENST00000528180.1_Intron	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	251	Interaction with EZH2. {ECO:0000250}.|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K27 methylation (GO:0061087)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				GGGTGAAAAAATAATGTCCTG	0.284																																						uc001pbr.3																			0				haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21						c.(751-753)Ata>Gta		Homo sapiens embryonic ectoderm development (EED), transcript variant 1, mRNA.							84.0	93.0	90.0					11																	85977149		2202	4293	6495	SO:0001583	missense	8726				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding	g.chr11:85977149A>G	AF078933	CCDS8273.1, CCDS8274.1	11q14.2-q22.3	2013-01-10			ENSG00000074266	ENSG00000074266		"""WD repeat domain containing"""	3188	protein-coding gene	gene with protein product	"""WD protein associating with integrin cytoplasmic tails 1"""	605984				9765275, 9806832	Standard	NM_003797		Approved	WAIT-1, HEED	uc001pbp.3	O75530	OTTHUMG00000167209	ENST00000263360.6:c.751A>G	11.37:g.85977149A>G	ENSP00000263360:p.Ile251Val		Somatic				EED_uc010rtm.2_Missense_Mutation_p.I251V|EED_uc001pbp.3_Missense_Mutation_p.I251V|EED_uc001pbq.3_Missense_Mutation_p.I251V|EED_uc010rtn.1_Non-coding_Transcript	p.I251V	NM_003797	NP_003788	WXS	Illumina GAIIx	Phase_I	O75530	EED_HUMAN			7	1217	+		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)	251			Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.		A8K7V5|O00149|Q6NTH2|Q7LDA5|Q7LDG8|Q86VV2|Q9UNY7	Missense_Mutation	SNP	ENST00000263360.6	37	c.751A>G	CCDS8273.1	.	.	.	.	.	.	.	.	.	.	A	16.63	3.177282	0.57692	.	.	ENSG00000074266	ENST00000263360;ENST00000351625;ENST00000327320;ENST00000533228	T;T;T	0.61392	1.52;1.52;0.11	5.36	5.36	0.76844	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.58566	0.2131	L	0.28649	0.875	0.80722	D	1	B;P;B	0.39862	0.253;0.692;0.079	B;P;B	0.51266	0.121;0.664;0.112	T	0.55179	-0.8181	9	.	.	.	-14.8347	15.658	0.77158	1.0:0.0:0.0:0.0	.	251;251;251	O75530-3;O75530-2;O75530	.;.;EED_HUMAN	V	251;251;251;44	ENSP00000263360:I251V;ENSP00000338186:I251V;ENSP00000315587:I251V	.	I	+	1	0	EED	85654797	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.114000	0.94329	2.158000	0.67659	0.460000	0.39030	ATA		0.284	EED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393733.1	NM_003797		5	86	0	0	0	1	0	5	86				
MCM3	4172	broad.mit.edu	37	6	52129524	52129524	+	Silent	SNP	G	G	A	rs111523955		TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr6:52129524G>A	ENST00000229854.7	-	17	2365	c.2289C>T	c.(2287-2289)atC>atT	p.I763I	MCM3_ENST00000419835.2_Silent_p.I717I|MCM3_ENST00000596288.1_Silent_p.I808I			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	763					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					GATTCATGCCGATTGACTGCG	0.527																																						uc003pan.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20						c.(2287-2289)atC>atT		Homo sapiens minichromosome maintenance complex component 3 (MCM3), mRNA.							180.0	166.0	170.0					6																	52129524		2203	4300	6503	SO:0001819	synonymous_variant	4172				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex|alpha DNA polymerase:primase complex|centrosome|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr6:52129524G>A	X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"""minichromosome maintenance deficient (S. cerevisiae) 3"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"""			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.2289C>T	6.37:g.52129524G>A			Somatic				MCM3_uc011dwu.1_Silent_p.I717I	p.I763I	NM_002388	NP_002379	WXS	Illumina GAIIx	Phase_I	P25205	MCM3_HUMAN			16	2399	-	Lung NSC(77;0.0931)		763					B4DWW4|Q92660|Q9BTR3|Q9NUE7	Silent	SNP	ENST00000229854.7	37	c.2289C>T		.	.	.	.	.	.	.	.	.	.	G	8.299	0.819499	0.16607	.	.	ENSG00000112118	ENST00000340349;ENST00000421471	T	0.35789	1.29	5.39	2.66	0.31614	.	.	.	.	.	T	0.27933	0.0688	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.11867	-1.0570	6	0.87932	D	0	-19.3182	5.026	0.14385	0.2594:0.536:0.1348:0.0699	.	.	.	.	W	311;309	ENSP00000407651:R309W	ENSP00000340566:R311W	R	-	1	2	MCM3	52237483	0.996000	0.38824	0.990000	0.47175	0.410000	0.31052	0.463000	0.21972	0.406000	0.25560	-0.867000	0.03001	CGG		0.527	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1			70	128	0	0	0	1	0	70	128				
PTPRZ1	5803	broad.mit.edu	37	7	121668634	121668634	+	Missense_Mutation	SNP	T	T	G			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr7:121668634T>G	ENST00000393386.2	+	14	5428	c.5017T>G	c.(5017-5019)Tta>Gta	p.L1673V	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.L813V	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1673					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ACACTTTTACTTAGAGGACAG	0.383																																						uc003vjy.3																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(5017-5019)Tta>Gta		Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.							174.0	149.0	158.0					7																	121668634		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121668634T>G	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.5017T>G	7.37:g.121668634T>G	ENSP00000377047:p.Leu1673Val		Somatic				PTPRZ1_uc011knt.2_Missense_Mutation_p.L813V|PTPRZ1_uc003vjz.3_Missense_Mutation_p.L813V	p.L1673V	NM_002851	NP_002842	WXS	Illumina GAIIx	Phase_I	P23471	PTPRZ_HUMAN			13	5412	+			1673					A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.5017T>G	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	T	3.120	-0.180751	0.06380	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.77489	0.78;-1.1	5.8	4.63	0.57726	.	0.000000	0.52532	D	0.000067	T	0.57080	0.2029	N	0.13098	0.295	0.38610	D	0.950875	P;B;B	0.43287	0.802;0.063;0.217	B;B;B	0.38428	0.273;0.031;0.189	T	0.55786	-0.8086	10	0.15066	T	0.55	.	9.1209	0.36786	0.0:0.1411:0.0:0.8589	.	812;813;1673	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	V	1673;813	ENSP00000377047:L1673V;ENSP00000410000:L813V	ENSP00000377047:L1673V	L	+	1	2	PTPRZ1	121455870	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	0.704000	0.25661	1.012000	0.39366	0.528000	0.53228	TTA		0.383	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		7	79	0	0	0	1	0	7	79				
TLR7	51284	broad.mit.edu	37	X	12885601	12885601	+	5'UTR	SNP	T	T	G			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chrX:12885601T>G	ENST00000380659.3	+	0	43				TLR7_ENST00000484204.1_3'UTR	NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7						cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	TTCTCTTAGTTGATGCTATTG	0.393																																						uc004cvc.3																			0				NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44						c.e2-1		Homo sapiens toll-like receptor 7 (TLR7), mRNA.	Imiquimod(DB00724)						141.0	104.0	115.0					X																	12885601		692	1591	2283	SO:0001623	5_prime_UTR_variant	51284				I-kappaB phosphorylation|cellular response to mechanical stimulus|defense response to virus|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|siRNA binding|single-stranded RNA binding|transmembrane receptor activity	g.chrX:12885601T>G	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.-97T>G	X.37:g.12885601T>G			Somatic						NM_016562	NP_057646	WXS	Illumina GAIIx	Phase_I	Q9NYK1	TLR7_HUMAN			2	42	+								D1CS69|Q9NR98	Splice_Site	SNP	ENST00000380659.3	37	c.-97_splice	CCDS14151.1																																																																																				0.393	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		39	134	0	0	0	1	0	39	134				
ADCY8	114	broad.mit.edu	37	8	131848585	131848585	+	Silent	SNP	C	C	A			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr8:131848585C>A	ENST00000286355.5	-	12	4705	c.2613G>T	c.(2611-2613)ctG>ctT	p.L871L	ADCY8_ENST00000377928.3_Silent_p.L740L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	871					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TCTCAGTGAGCAGGGCATAGA	0.557										HNSCC(32;0.087)																												uc003ytd.4																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(2611-2613)ctG>ctT		Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.							165.0	127.0	140.0					8																	131848585		2203	4300	6503	SO:0001819	synonymous_variant	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131848585C>A	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2613G>T	8.37:g.131848585C>A		HNSCC(32;0.087)	Somatic				ADCY8_uc010mds.3_Silent_p.L740L	p.L871L	NM_001115	NP_001106	WXS	Illumina GAIIx	Phase_I	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		11	2869	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		871						Silent	SNP	ENST00000286355.5	37	c.2613G>T	CCDS6363.1																																																																																				0.557	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			26	25	0	0	0	1	0	26	25				
DEFB118	117285	broad.mit.edu	37	20	29960791	29960791	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr20:29960791C>T	ENST00000253381.2	+	2	223	c.190C>T	c.(190-192)Cga>Tga	p.R64*		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	64					cell-matrix adhesion (GO:0007160)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AGACCACAGGCGAGTTCCTGC	0.438																																						uc002wvr.3																			0		p.R64L(1)		breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14						c.(190-192)Cga>Tga		Homo sapiens defensin, beta 118 (DEFB118), mRNA.							152.0	134.0	140.0					20																	29960791		2203	4300	6503	SO:0001587	stop_gained	117285				cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region		g.chr20:29960791C>T	AF347073	CCDS13177.1	20q11.21	2008-02-01	2002-05-09	2002-05-10	ENSG00000131068	ENSG00000131068		"""Defensins, beta"""	16196	protein-coding gene	gene with protein product		607650	"""chromosome 20 open reading frame 63"""	C20orf63		11564719, 15033915	Standard	NM_054112		Approved	dJ1018D12.3, DEFB-18, ESC42	uc002wvr.3	Q96PH6	OTTHUMG00000032161	ENST00000253381.2:c.190C>T	20.37:g.29960791C>T	ENSP00000253381:p.Arg64*		Somatic					p.R64*	NM_054112	NP_473453	WXS	Illumina GAIIx	Phase_I	Q96PH6	DB118_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		1	223	+	all_hematologic(12;0.158)		64					Q17RC4|Q8N691|Q9NUH0	Nonsense_Mutation	SNP	ENST00000253381.2	37	c.190C>T	CCDS13177.1	.	.	.	.	.	.	.	.	.	.	C	9.140	1.013563	0.19277	.	.	ENSG00000131068	ENST00000253381	.	.	.	3.43	-6.22	0.02058	.	10.118000	0.00357	N	0.000026	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.5569	1.8142	0.03097	0.1278:0.2744:0.3591:0.2388	.	.	.	.	X	64	.	ENSP00000253381:R64X	R	+	1	2	DEFB118	29424452	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.214000	0.09292	-1.399000	0.02063	-0.181000	0.13052	CGA		0.438	DEFB118-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078501.2	NM_054112		9	110	0	0	0	1	0	9	110				
