#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SUPT20H	55578	broad.mit.edu	37	13	37622068	37622068	+	Silent	SNP	G	G	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr13:37622068G>A	ENST00000350612.6	-	4	265	c.45C>T	c.(43-45)gtC>gtT	p.V15V	SUPT20H_ENST00000360252.4_Silent_p.V15V|SUPT20H_ENST00000464744.1_Silent_p.V15V|SUPT20H_ENST00000470359.2_5'UTR|SUPT20H_ENST00000356185.3_Silent_p.V15V|SUPT20H_ENST00000475892.1_Silent_p.V15V|SUPT20H_ENST00000542180.1_Silent_p.V3V	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	15					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)										CACTTTCAATGACATACTAAA	0.318																																						uc001uwk.3																			0				cervix(1)|endometrium(2)|large_intestine(6)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(43-45)gtC>gtT		Homo sapiens family with sequence similarity 48, member A (FAM48A), transcript variant 2, mRNA.							104.0	107.0	106.0					13																	37622068		2202	4299	6501	SO:0001819	synonymous_variant	55578				autophagy|gastrulation	SAGA-type complex	protein binding	g.chr13:37622068G>A	AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"""p38 interacting protein"", ""transcription factor (p38 interacting protein)"""	613417	"""chromosome 13 open reading frame 19"", ""family with sequence similarity 48, member A"""	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.45C>T	13.37:g.37622068G>A						FAM48A_uc010abt.3_Silent_p.V15V|FAM48A_uc001uwg.3_Silent_p.V15V|FAM48A_uc001uwh.3_Silent_p.V15V|FAM48A_uc001uwi.3_Silent_p.V15V|FAM48A_uc001uwj.3_Silent_p.V15V|FAM48A_uc010tes.1_Silent_p.V3V|FAM48A_uc001uwl.1_Silent_p.V15V	p.V15V	NM_017569	NP_060039	Q8NEM7	FA48A_HUMAN		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)	3	293	-		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)	15					E7ER46|Q71RF3|Q9Y6A6	Silent	SNP	ENST00000350612.6	37	c.45C>T	CCDS31959.1																																																																																				0.318	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354766.1	NM_017569		6	52	0	0	0	1	0	6	52				
KIAA0319L	79932	broad.mit.edu	37	1	35915475	35915475	+	Silent	SNP	C	C	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr1:35915475C>T	ENST00000325722.3	-	15	2580	c.2346G>A	c.(2344-2346)gtG>gtA	p.V782V	KIAA0319L_ENST00000373266.4_Silent_p.V219V|KIAA0319L_ENST00000485551.1_5'UTR	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	782	PKD 5. {ECO:0000255|PROSITE- ProRule:PRU00151}.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CACCAGGTTTCACCTCCACAG	0.493																																						uc001byx.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34						c.(2344-2346)gtG>gtA		Homo sapiens KIAA0319-like (KIAA0319L), mRNA.							142.0	101.0	115.0					1																	35915475		2203	4300	6503	SO:0001819	synonymous_variant	79932					cytoplasmic vesicle part|integral to membrane	protein binding	g.chr1:35915475C>T	AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.2346G>A	1.37:g.35915475C>T						KIAA0319L_uc001byw.3_Silent_p.V224V|KIAA0319L_uc010ohv.1_Silent_p.V424V	p.V782V	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN			14	2604	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	782			PKD 5.		B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Silent	SNP	ENST00000325722.3	37	c.2346G>A	CCDS390.1																																																																																				0.493	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2	NM_024874		11	44	0	0	0	1	0	11	44				
SLC34A2	10568	broad.mit.edu	37	4	25678361	25678361	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr4:25678361C>T	ENST00000382051.3	+	13	2113	c.2063C>T	c.(2062-2064)aCg>aTg	p.T688M	SLC34A2_ENST00000503434.1_Missense_Mutation_p.T687M|SLC34A2_ENST00000504570.1_Missense_Mutation_p.T687M	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	688					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				ACCGAATGCACGGCCTTGTAG	0.567			T	ROS1	NSCLC																																	uc003grr.3				Dom	yes		4	4p15.2	10568	T	"""solute carrier family 34 (sodium phosphate), member 2"""			E	ROS1		NSCLC	SLC34A2/ROS1(14)	0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.(2062-2064)aCg>aTg		Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.							52.0	53.0	53.0					4																	25678361		2203	4300	6503	SO:0001583	missense	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25678361C>T	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.2063C>T	4.37:g.25678361C>T	ENSP00000371483:p.Thr688Met					SLC34A2_uc003grs.3_Missense_Mutation_p.T687M|SLC34A2_uc010iev.3_Missense_Mutation_p.T687M	p.T688M	NM_006424	NP_006415	O95436	NPT2B_HUMAN			12	2144	+		Breast(46;0.0503)	688					A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	ENST00000382051.3	37	c.2063C>T	CCDS3435.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.741588	0.49151	.	.	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	T;T;T	0.23950	1.88;1.88;1.88	5.02	5.02	0.67125	.	0.099991	0.64402	D	0.000002	T	0.28928	0.0718	M	0.69823	2.125	0.09310	N	0.999999	D;D	0.56968	0.978;0.962	B;B	0.39562	0.303;0.159	T	0.43228	-0.9404	10	0.72032	D	0.01	-14.514	14.1694	0.65500	0.0:1.0:0.0:0.0	.	687;688	O95436-2;O95436	.;NPT2B_HUMAN	M	687;688;687	ENSP00000425501:T687M;ENSP00000371483:T688M;ENSP00000423021:T687M	ENSP00000371483:T688M	T	+	2	0	SLC34A2	25287459	0.650000	0.27331	0.053000	0.19242	0.021000	0.10359	2.570000	0.45981	2.492000	0.84095	0.555000	0.69702	ACG		0.567	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		20	33	0	0	0	1	0	20	33				
PPFIA3	8541	broad.mit.edu	37	19	49651468	49651468	+	Silent	SNP	C	C	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr19:49651468C>T	ENST00000334186.4	+	24	3313	c.2964C>T	c.(2962-2964)aaC>aaT	p.N988N	PPFIA3_ENST00000602351.1_Silent_p.N979N	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	988	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		ATCACCTTAACAAGAAGGAGC	0.612																																						uc002pmr.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35						c.(2962-2964)aaC>aaT		Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 (PPFIA3), mRNA.							48.0	47.0	48.0					19																	49651468		2203	4300	6503	SO:0001819	synonymous_variant	8541					cell surface|cytoplasm	protein binding	g.chr19:49651468C>T	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.2964C>T	19.37:g.49651468C>T						PPFIA3_uc010yai.2_Non-coding_Transcript|PPFIA3_uc002pms.3_Silent_p.N847N|PPFIA3_uc002pmt.3_Silent_p.N127N|PPFIA3_uc002pmu.1_Silent_p.N37N	p.N988N	NM_003660	NP_003651	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	23	3296	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	988			SAM 2.		A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Silent	SNP	ENST00000334186.4	37	c.2964C>T	CCDS12758.1																																																																																				0.612	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660		8	30	0	0	0	1	0	8	30				
NKX2-1	7080	broad.mit.edu	37	14	36988488	36988488	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr14:36988488C>G	ENST00000518149.1	-	2	680	c.75G>C	c.(73-75)aaG>aaC	p.K25N	NKX2-1_ENST00000354822.5_Missense_Mutation_p.K55N|RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1-AS1_ENST00000521292.2_RNA|NKX2-1_ENST00000522719.2_Missense_Mutation_p.K25N|NKX2-1_ENST00000498187.2_Missense_Mutation_p.K25N			P43699	NKX21_HUMAN	NK2 homeobox 1	25					anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|brain development (GO:0007420)|cerebral cortex cell migration (GO:0021795)|cerebral cortex GABAergic interneuron differentiation (GO:0021892)|Clara cell differentiation (GO:0060486)|developmental induction (GO:0031128)|endoderm development (GO:0007492)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|forebrain development (GO:0030900)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain neuron fate commitment (GO:0021877)|globus pallidus development (GO:0021759)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|locomotory behavior (GO:0007626)|lung development (GO:0030324)|lung saccule development (GO:0060430)|menarche (GO:0042696)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron migration (GO:0001764)|oligodendrocyte differentiation (GO:0048709)|phospholipid metabolic process (GO:0006644)|pituitary gland development (GO:0021983)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|rhythmic process (GO:0048511)|thyroid gland development (GO:0030878)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		TGCCCACTTTCTTGTAGCTTT	0.652			A		NSCLC																																	uc001wtu.3				Dom	yes		14	14q13	7080	A	NK2 homeobox 1			E			NSCLC		0				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7						c.(163-165)aaG>aaC		Homo sapiens NK2 homeobox 1 (NKX2-1), transcript variant 1, mRNA.							12.0	14.0	14.0					14																	36988488		2182	4256	6438	SO:0001583	missense	7080				epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding	g.chr14:36988488C>G		CCDS9659.1, CCDS41945.1	14q13.3	2012-03-09	2007-07-26	2007-07-26	ENSG00000136352	ENSG00000136352		"""Homeoboxes / ANTP class : NKL subclass"""	11825	protein-coding gene	gene with protein product		600635	"""benign chorea"", ""thyroid transcription factor 1"""	NKX2A, BCH, TITF1		1976511	Standard	NM_001079668		Approved	TTF-1, TTF1	uc001wtu.3	P43699	OTTHUMG00000140225	ENST00000518149.1:c.75G>C	14.37:g.36988488C>G	ENSP00000428341:p.Lys25Asn					SFTA3_uc001wts.3_Intron|NKX2-1_uc001wtt.3_Missense_Mutation_p.K25N|NKX2-1_uc001wtv.3_Missense_Mutation_p.K25N|BX161496_uc001wtw.1_5'Flank	p.K55N	NM_001079668	NP_001073136	P43699	NKX21_HUMAN	Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)	1	261	-	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		25					D3DSA3|O14954|O14955|Q7KZF6|Q9BRJ8	Missense_Mutation	SNP	ENST00000518149.1	37	c.165G>C	CCDS9659.1	.	.	.	.	.	.	.	.	.	.	C	20.0	3.929769	0.73327	.	.	ENSG00000136352	ENST00000354822;ENST00000498187;ENST00000518149;ENST00000522719	T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63	5.12	5.12	0.69794	.	0.167890	0.51477	D	0.000099	T	0.80374	0.4611	M	0.83692	2.655	0.80722	D	1	D;P	0.58268	0.982;0.917	P;B	0.50708	0.648;0.446	T	0.82458	-0.0447	10	0.44086	T	0.13	.	18.5237	0.90963	0.0:1.0:0.0:0.0	.	55;25	P43699-3;P43699	.;NKX21_HUMAN	N	55;25;25;25	ENSP00000346879:K55N;ENSP00000429607:K25N;ENSP00000428341:K25N;ENSP00000429519:K25N	ENSP00000346879:K55N	K	-	3	2	NKX2-1	36058239	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.410000	0.66381	2.381000	0.81170	0.462000	0.41574	AAG		0.652	NKX2-1-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376225.2	NM_003317		3	20	0	0	0	1	0	3	20				
OR2C1	4993	broad.mit.edu	37	16	3405956	3405956	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr16:3405956G>C	ENST00000304936.2	+	1	68	c.16G>C	c.(16-18)Gat>Cat	p.D6H		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	6					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)	cell cortex (GO:0005938)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CGGGGTGAATGATAGCTCCTT	0.463																																						uc002cuw.1																			0				kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(16-18)Gat>Cat		Homo sapiens olfactory receptor, family 2, subfamily C, member 1 (OR2C1), mRNA.							77.0	72.0	74.0					16																	3405956		2197	4300	6497	SO:0001583	missense	4993				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr16:3405956G>C	AF098664	CCDS10502.1	16p13.3	2012-08-09			ENSG00000168158	ENSG00000168158		"""GPCR / Class A : Olfactory receptors"""	8242	protein-coding gene	gene with protein product				OR2C2P		9847080	Standard	NM_012368		Approved	OLFmf3	uc002cuw.1	O95371	OTTHUMG00000090505	ENST00000304936.2:c.16G>C	16.37:g.3405956G>C	ENSP00000307726:p.Asp6His						p.D6H	NM_012368	NP_036500	O95371	OR2C1_HUMAN			0	68	+			6					A0AVA4|Q6IF34|Q6IF55	Missense_Mutation	SNP	ENST00000304936.2	37	c.16G>C	CCDS10502.1	.	.	.	.	.	.	.	.	.	.	g	7.834	0.720557	0.15372	.	.	ENSG00000168158	ENST00000304936	T	0.00578	6.44	4.35	-0.49	0.12049	.	2.273470	0.01900	N	0.039121	T	0.00384	0.0012	N	0.02247	-0.625	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46020	-0.9221	10	0.41790	T	0.15	.	8.0946	0.30820	0.6361:0.0:0.3639:0.0	.	6	O95371	OR2C1_HUMAN	H	6	ENSP00000307726:D6H	ENSP00000307726:D6H	D	+	1	0	OR2C1	3345957	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.131000	0.01311	-0.311000	0.08754	-0.494000	0.04653	GAT		0.463	OR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206993.3			9	42	0	0	0	1	0	9	42				
SPC25	57405	broad.mit.edu	37	2	169732647	169732647	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr2:169732647T>C	ENST00000282074.2	-	5	527	c.386A>G	c.(385-387)aAa>aGa	p.K129R	SPC25_ENST00000472216.2_5'Flank	NM_020675.3	NP_065726.1	Q9HBM1	SPC25_HUMAN	SPC25, NDC80 kinetochore complex component	129	Interaction with the N-terminus of SPBC24.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)	condensed chromosome kinetochore (GO:0000777)|cytosol (GO:0005829)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	9						CTGCAGCCTTTTCAACCTCTC	0.289																																						uc002uel.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	9						c.(385-387)aAa>aGa		Homo sapiens SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae) (SPC25), mRNA.							24.0	27.0	26.0					2																	169732647		2196	4293	6489	SO:0001583	missense	57405				cell division|chromosome segregation|mitotic prometaphase|mitotic spindle organization	Ndc80 complex|condensed chromosome kinetochore|cytosol|nucleus	protein binding	g.chr2:169732647T>C	AF225416	CCDS2229.1	2q31.1	2013-06-05	2013-06-05	2007-03-02	ENSG00000152253	ENSG00000152253			24031	protein-coding gene	gene with protein product		609395	"""spindle pole body component 25 homolog (S. cerevisiae)"", ""SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae)"""	SPBC25		12477932	Standard	NM_020675		Approved	MGC22228, AD024	uc002uel.3	Q9HBM1	OTTHUMG00000132181	ENST00000282074.2:c.386A>G	2.37:g.169732647T>C	ENSP00000282074:p.Lys129Arg						p.K129R	NM_020675	NP_065726	Q9HBM1	SPC25_HUMAN			4	517	-			129			Interaction with the N-terminus of SPBC24.		A8K4X8|D3DPC0	Missense_Mutation	SNP	ENST00000282074.2	37	c.386A>G	CCDS2229.1	.	.	.	.	.	.	.	.	.	.	T	17.24	3.339908	0.60963	.	.	ENSG00000152253	ENST00000282074	D	0.86366	-2.11	6.17	6.17	0.99709	.	0.222920	0.52532	D	0.000062	D	0.84506	0.5487	L	0.60455	1.87	0.47065	D	0.999305	B	0.23854	0.092	B	0.27500	0.08	T	0.79403	-0.1818	10	0.14252	T	0.57	-17.3381	14.3455	0.66658	0.0:0.0:0.0:1.0	.	129	Q9HBM1	SPC25_HUMAN	R	129	ENSP00000282074:K129R	ENSP00000282074:K129R	K	-	2	0	SPC25	169440893	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	4.942000	0.63547	2.371000	0.80710	0.533000	0.62120	AAA		0.289	SPC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255233.2	NM_020675		2	17	0	0	0	1	0	2	17				
PHF23	79142	broad.mit.edu	37	17	7139847	7139847	+	Silent	SNP	G	G	C			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr17:7139847G>C	ENST00000320316.3	-	4	625	c.399C>G	c.(397-399)ctC>ctG	p.L133L	PHF23_ENST00000571362.1_Silent_p.L66L|PHF23_ENST00000454255.2_Silent_p.L129L|PHF23_ENST00000576955.1_Silent_p.L3L|PHF23_ENST00000570753.1_5'Flank|DVL2_ENST00000575458.1_5'Flank|DVL2_ENST00000005340.5_5'Flank	NM_001284518.1|NM_024297.2	NP_001271447.1|NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	133							zinc ion binding (GO:0008270)			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						GAGAGTCCTTGAGCTTCATCT	0.602																																						uc002gfa.3																			0				breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						c.(397-399)ctC>ctG		Homo sapiens PHD finger protein 23 (PHF23), mRNA.							81.0	90.0	87.0					17																	7139847		1972	4152	6124	SO:0001819	synonymous_variant	79142						zinc ion binding	g.chr17:7139847G>C	AK122791	CCDS42250.1, CCDS67143.1, CCDS67144.1	17p13.1	2014-08-13			ENSG00000040633	ENSG00000040633		"""Zinc fingers, PHD-type"""	28428	protein-coding gene	gene with protein product		612910					Standard	NM_024297		Approved	MGC2941, FLJ16355	uc002gfa.3	Q9BUL5	OTTHUMG00000177972	ENST00000320316.3:c.399C>G	17.37:g.7139847G>C						DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.2_Silent_p.L66L|PHF23_uc010cma.3_Silent_p.L3L	p.L133L	NM_024297	NP_077273	Q9BUL5	PHF23_HUMAN			3	626	-			133					A1DZ74|B3KVH8|B4DLK6|D3DTN4|Q8IZK0|Q96HG7|Q9H5X0	Silent	SNP	ENST00000320316.3	37	c.399C>G	CCDS42250.1																																																																																				0.602	PHF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440047.1	NM_024297		11	65	0	0	0	1	0	11	65				
OXER1	165140	broad.mit.edu	37	2	42991172	42991172	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr2:42991172G>A	ENST00000378661.2	-	1	229	c.148C>T	c.(148-150)Ccc>Tcc	p.P50S		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	50	Ser-rich.				G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cAMP biosynthetic process (GO:0030817)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050648)|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050647)|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050646)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						gagagagagggagatggagag	0.602																																						uc002rss.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						c.(148-150)Ccc>Tcc		Homo sapiens oxoeicosanoid (OXE) receptor 1 (OXER1), mRNA.							69.0	58.0	61.0					2																	42991172		2203	4300	6503	SO:0001583	missense	165140				regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity	g.chr2:42991172G>A	AB083055	CCDS1810.1	2p22.1	2012-08-10			ENSG00000162881	ENSG00000162881		"""GPCR / Class A : Leukotriene receptors"""	24884	protein-coding gene	gene with protein product	"""5-oxo-ETE acid G-protein-coupled receptor 1"""					12065583, 15001665	Standard	NM_148962		Approved	GPCR, TG1019, GPR170	uc002rss.3	Q8TDS5	OTTHUMG00000128643	ENST00000378661.2:c.148C>T	2.37:g.42991172G>A	ENSP00000367930:p.Pro50Ser						p.P50S	NM_148962	NP_683765	Q8TDS5	OXER1_HUMAN			0	230	-			50			Ser-rich.		Q86WP7|Q8NGW4	Missense_Mutation	SNP	ENST00000378661.2	37	c.148C>T	CCDS1810.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.164731	0.38217	.	.	ENSG00000162881	ENST00000378661	T	0.60171	0.21	3.09	2.2	0.27929	.	.	.	.	.	T	0.30792	0.0776	N	0.08118	0	0.09310	N	1	P	0.42757	0.789	B	0.40329	0.326	T	0.11179	-1.0598	9	0.08837	T	0.75	.	6.4874	0.22097	0.1488:0.0:0.8512:0.0	.	50	Q8TDS5	OXER1_HUMAN	S	50	ENSP00000367930:P50S	ENSP00000367930:P50S	P	-	1	0	OXER1	42844676	0.102000	0.21896	0.001000	0.08648	0.016000	0.09150	1.957000	0.40392	0.580000	0.29522	0.455000	0.32223	CCC		0.602	OXER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250514.1	NM_148962		6	39	0	0	0	1	0	6	39				
IGSF22	283284	broad.mit.edu	37	11	18741432	18741432	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr11:18741432G>A	ENST00000513874.1	-	7	666	c.527C>T	c.(526-528)cCt>cTt	p.P176L	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	176	Lys-rich.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CTTGGGAGCAGGGGGTGCCCT	0.502																																						uc009yht.2																			0				NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						c.(526-528)cCt>cTt		Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA.							133.0	129.0	130.0					11																	18741432		1883	4116	5999	SO:0001583	missense	283284							g.chr11:18741432G>A	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.527C>T	11.37:g.18741432G>A	ENSP00000421191:p.Pro176Leu					IGSF22_uc001mpa.2_Non-coding_Transcript	p.P176L	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN			6	717	-			176			Lys-rich.		A6NNA0|D6RGV7	Missense_Mutation	SNP	ENST00000513874.1	37	c.527C>T	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	G	17.48	3.399995	0.62177	.	.	ENSG00000179057	ENST00000513874	T	0.52983	0.64	5.02	2.08	0.27032	.	0.000000	0.36628	U	0.002498	T	0.39410	0.1077	L	0.54323	1.7	0.38547	D	0.949375	B	0.20780	0.048	B	0.22386	0.039	T	0.20638	-1.0269	10	0.38643	T	0.18	.	7.9838	0.30198	0.2543:0.0:0.7457:0.0	.	176	D6RGV7	.	L	176	ENSP00000421191:P176L	ENSP00000322422:P176L	P	-	2	0	IGSF22	18698008	0.971000	0.33674	0.234000	0.24042	0.964000	0.63967	2.102000	0.41796	0.148000	0.19059	0.557000	0.71058	CCT		0.502	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		7	117	0	0	0	1	0	7	117				
ABHD2	11057	broad.mit.edu	37	15	89659640	89659640	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr15:89659640G>A	ENST00000352732.5	+	3	602	c.82G>A	c.(82-84)Gtg>Atg	p.V28M	ABHD2_ENST00000565973.1_Missense_Mutation_p.V28M|ABHD2_ENST00000355100.3_Missense_Mutation_p.V28M	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	28					negative regulation of cell migration (GO:0030336)|response to wounding (GO:0009611)	integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					TGTGCTGTACGTGATCGTCCG	0.577																																					Colon(11;252 417 24570 33239 41878)	uc002bnj.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23						c.(82-84)Gtg>Atg		Homo sapiens abhydrolase domain containing 2 (ABHD2), transcript variant 1, mRNA.							116.0	99.0	105.0					15																	89659640		2200	4299	6499	SO:0001583	missense	11057					integral to membrane	carboxylesterase activity	g.chr15:89659640G>A	X12433	CCDS10348.1	15q26.1	2006-10-06			ENSG00000140526	ENSG00000140526		"""Abhydrolase domain containing"""	18717	protein-coding gene	gene with protein product		612196					Standard	NM_152924		Approved	LABH2	uc002bnk.2	P08910	OTTHUMG00000148684	ENST00000352732.5:c.82G>A	15.37:g.89659640G>A	ENSP00000268129:p.Val28Met					ABHD2_uc010ups.1_Non-coding_Transcript|ABHD2_uc002bnk.2_Missense_Mutation_p.V28M	p.V28M	NM_007011	NP_690888	P08910	ABHD2_HUMAN			6	1000	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		28					Q53G48|Q53GU0|Q5FVD9|Q8TC79	Missense_Mutation	SNP	ENST00000352732.5	37	c.82G>A	CCDS10348.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.892064	0.72524	.	.	ENSG00000140526	ENST00000352732;ENST00000355100	T;T	0.15603	2.41;2.41	5.91	5.91	0.95273	.	0.136993	0.51477	D	0.000081	T	0.18383	0.0441	L	0.60455	1.87	0.58432	D	0.999997	P	0.51240	0.943	B	0.40982	0.345	T	0.00824	-1.1551	10	0.49607	T	0.09	-1.7991	10.6141	0.45441	0.1413:0.0:0.8587:0.0	.	28	P08910	ABHD2_HUMAN	M	28	ENSP00000268129:V28M;ENSP00000347217:V28M	ENSP00000268129:V28M	V	+	1	0	ABHD2	87460644	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.492000	0.53259	2.793000	0.96121	0.655000	0.94253	GTG		0.577	ABHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309074.2			34	59	0	0	0	1	0	34	59				
PHF23	79142	broad.mit.edu	37	17	7139630	7139630	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr17:7139630G>C	ENST00000320316.3	-	4	842	c.616C>G	c.(616-618)Cct>Gct	p.P206A	PHF23_ENST00000571362.1_Missense_Mutation_p.P139A|PHF23_ENST00000454255.2_Missense_Mutation_p.P202A|PHF23_ENST00000576955.1_Missense_Mutation_p.P76A|PHF23_ENST00000570753.1_5'Flank|DVL2_ENST00000575458.1_5'Flank|DVL2_ENST00000005340.5_5'Flank	NM_001284518.1|NM_024297.2	NP_001271447.1|NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	206							zinc ion binding (GO:0008270)			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						CCATCCCCAGGAGTTGGCCGA	0.582																																						uc002gfa.3																			0				breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						c.(616-618)Cct>Gct		Homo sapiens PHD finger protein 23 (PHF23), mRNA.							81.0	90.0	87.0					17																	7139630		1861	4089	5950	SO:0001583	missense	79142						zinc ion binding	g.chr17:7139630G>C	AK122791	CCDS42250.1, CCDS67143.1, CCDS67144.1	17p13.1	2014-08-13			ENSG00000040633	ENSG00000040633		"""Zinc fingers, PHD-type"""	28428	protein-coding gene	gene with protein product		612910					Standard	NM_024297		Approved	MGC2941, FLJ16355	uc002gfa.3	Q9BUL5	OTTHUMG00000177972	ENST00000320316.3:c.616C>G	17.37:g.7139630G>C	ENSP00000322579:p.Pro206Ala					DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.2_Missense_Mutation_p.P139A|PHF23_uc010cma.3_Missense_Mutation_p.P76A	p.P206A	NM_024297	NP_077273	Q9BUL5	PHF23_HUMAN			3	843	-			206					A1DZ74|B3KVH8|B4DLK6|D3DTN4|Q8IZK0|Q96HG7|Q9H5X0	Missense_Mutation	SNP	ENST00000320316.3	37	c.616C>G	CCDS42250.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.735268	0.48939	.	.	ENSG00000040633	ENST00000320316;ENST00000454255	T;T	0.34859	1.35;1.34	4.92	2.93	0.34026	.	0.137208	0.49916	D	0.000133	T	0.34542	0.0901	N	0.14661	0.345	0.32968	D	0.521921	D;B	0.63880	0.993;0.068	D;B	0.70935	0.971;0.012	T	0.42531	-0.9446	10	0.42905	T	0.14	-7.2061	5.1001	0.14754	0.1854:0.1713:0.6432:0.0	.	139;206	B4DLK6;Q9BUL5	.;PHF23_HUMAN	A	206;202	ENSP00000322579:P206A;ENSP00000414607:P202A	ENSP00000322579:P206A	P	-	1	0	PHF23	7080354	0.998000	0.40836	0.991000	0.47740	0.991000	0.79684	2.676000	0.46883	0.660000	0.30964	0.563000	0.77884	CCT		0.582	PHF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440047.1	NM_024297		17	76	0	0	0	1	0	17	76				
ST8SIA1	6489	broad.mit.edu	37	12	22487068	22487068	+	Silent	SNP	A	A	G			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr12:22487068A>G	ENST00000396037.4	-	1	580	c.99T>C	c.(97-99)agT>agC	p.S33S	ST8SIA1_ENST00000381424.3_Silent_p.S33S|ST8SIA1_ENST00000536558.1_Intron|ST8SIA1_ENST00000404299.3_Silent_p.S33S|ST8SIA1_ENST00000539510.1_5'UTR	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	33					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						CACAGAGGGCACTGGCTCCCA	0.667																																						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.(97-99)agT>agC		Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 (ST8SIA1), mRNA.							94.0	91.0	92.0					12																	22487068		2203	4300	6503	SO:0001819	synonymous_variant	6489				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr12:22487068A>G	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.99T>C	12.37:g.22487068A>G						ST8SIA1_uc009zix.3_5'UTR	p.S33S	NM_003034	NP_003025	Q92185	SIA8A_HUMAN			0	581	-			33					A8K4H6|Q17RL0|Q6PZN5|Q93064	Silent	SNP	ENST00000396037.4	37	c.99T>C	CCDS8697.1																																																																																				0.667	ST8SIA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402245.2	NM_003034		29	72	0	0	0	1	0	29	72				
MYF5	4617	broad.mit.edu	37	12	81112653	81112653	+	Silent	SNP	T	T	C			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr12:81112653T>C	ENST00000228644.3	+	3	743	c.591T>C	c.(589-591)gaT>gaC	p.D197D		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	197					camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						ATGCCACAGATAAAAACTCCT	0.423																																						uc001szg.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						c.(589-591)gaT>gaC		Homo sapiens myogenic factor 5 (MYF5), mRNA.							90.0	94.0	93.0					12																	81112653		2203	4300	6503	SO:0001819	synonymous_variant	4617				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr12:81112653T>C		CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"""Basic helix-loop-helix proteins"""	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.591T>C	12.37:g.81112653T>C							p.D197D	NM_005593	NP_005584	P13349	MYF5_HUMAN			2	726	+			197					Q6ISR9	Silent	SNP	ENST00000228644.3	37	c.591T>C	CCDS9020.1																																																																																				0.423	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593		34	60	0	0	0	1	0	34	60				
TDGF1P3	6998	broad.mit.edu	37	X	109764445	109764445	+	RNA	SNP	G	G	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chrX:109764445G>A	ENST00000602699.1	+	0	906					NR_002718.2		P51864	TDGF3_HUMAN	teratocarcinoma-derived growth factor 1 pseudogene 3						signal transduction (GO:0007165)	cell outer membrane (GO:0009279)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)										ATTAGTTGCCGGGCTGGGCCA	0.522																																						uc004eos.1																			0													Homo sapiens teratocarcinoma-derived growth factor 1 pseudogene 3 (TDGF1P3), non-coding RNA.																																						6998							g.chrX:109764445G>A	M96956		Xq23	2011-06-24	2011-06-24	2011-06-24	ENSG00000225366	ENSG00000225366			11703	pseudogene	pseudogene			"""teratocarcinoma-derived growth factor 3, pseudogene"""	TDGF3		1882841	Standard	NR_002718		Approved	TDGF2, CR-3, CRIPTO-3, CRIPTO3	uc004eos.1	P51864	OTTHUMG00000022195		X.37:g.109764445G>A														0		+									RNA	SNP	ENST00000602699.1	37	c.906G>A																																																																																					0.522	TDGF1P3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467333.2	NR_002718		11	31	0	0	0	1	0	11	31				
MDN1	23195	broad.mit.edu	37	6	90400467	90400467	+	Silent	SNP	C	C	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr6:90400467C>T	ENST00000369393.3	-	64	10789	c.10674G>A	c.(10672-10674)agG>agA	p.R3558R	MDN1_ENST00000428876.1_Silent_p.R3558R			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3558					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCCTAGAGTTCCTGCTCCTGT	0.517																																						uc003pnn.1																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(10672-10674)agG>agA		Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.							131.0	106.0	114.0					6																	90400467		2203	4300	6503	SO:0001819	synonymous_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90400467C>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.10674G>A	6.37:g.90400467C>T							p.R3558R	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	63	10790	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	3558					O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.10674G>A	CCDS5024.1																																																																																				0.517	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			6	42	0	0	0	1	0	6	42				
SWSAP1	126074	broad.mit.edu	37	19	11486194	11486194	+	Silent	SNP	C	C	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr19:11486194C>A	ENST00000312423.2	+	2	251	c.192C>A	c.(190-192)atC>atA	p.I64I	CTD-2342J14.6_ENST00000590399.1_RNA	NM_175871.3	NP_787067.2	Q6NVH7	SWAP1_HUMAN	SWIM-type zinc finger 7 associated protein 1	64					ATP catabolic process (GO:0006200)|double-strand break repair via homologous recombination (GO:0000724)|protein stabilization (GO:0050821)	nucleus (GO:0005634)|Shu complex (GO:0097196)	ATPase activity (GO:0016887)|single-stranded DNA binding (GO:0003697)										TCTAGAAGATCCGCTTCCAGT	0.587																																						uc002mrg.1																			0											c.(190-192)atC>atA		Homo sapiens SWIM-type zinc finger 7 associated protein 1 (SWSAP1), mRNA.							115.0	135.0	128.0					19																	11486194		2202	4298	6500	SO:0001819	synonymous_variant	126074							g.chr19:11486194C>A	AK092438	CCDS12259.1	19p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000173928	ENSG00000173928			26638	protein-coding gene	gene with protein product	"""zinc finger, SWIM-type containing 7 associated protein 1"", ""SWS1-associated protein 1"""	614536	"""chromosome 19 open reading frame 39"""	C19orf39		21965664	Standard	NM_175871		Approved	FLJ35119, ZSWIM7AP1, SWS1AP1	uc002mrg.1	Q6NVH7		ENST00000312423.2:c.192C>A	19.37:g.11486194C>A							p.I64I	NM_175871	NP_787067	Q6NVH7	CS039_HUMAN			1	229	+			64					Q8NAM1	Silent	SNP	ENST00000312423.2	37	c.192C>A	CCDS12259.1																																																																																				0.587	SWSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458789.1	NM_175871		80	134	0	0	0	1	0	80	134				
OXER1	165140	broad.mit.edu	37	2	42991137	42991137	+	Silent	SNP	G	G	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr2:42991137G>A	ENST00000378661.2	-	1	264	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	61	Ser-rich.				G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cAMP biosynthetic process (GO:0030817)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050648)|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050647)|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050646)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						gtgagggagagaaggagggag	0.612																																						uc002rss.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						c.(181-183)ttC>ttT		Homo sapiens oxoeicosanoid (OXE) receptor 1 (OXER1), mRNA.							42.0	38.0	40.0					2																	42991137		2203	4300	6503	SO:0001819	synonymous_variant	165140				regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity	g.chr2:42991137G>A	AB083055	CCDS1810.1	2p22.1	2012-08-10			ENSG00000162881	ENSG00000162881		"""GPCR / Class A : Leukotriene receptors"""	24884	protein-coding gene	gene with protein product	"""5-oxo-ETE acid G-protein-coupled receptor 1"""					12065583, 15001665	Standard	NM_148962		Approved	GPCR, TG1019, GPR170	uc002rss.3	Q8TDS5	OTTHUMG00000128643	ENST00000378661.2:c.183C>T	2.37:g.42991137G>A							p.F61F	NM_148962	NP_683765	Q8TDS5	OXER1_HUMAN			0	265	-			61			Ser-rich.		Q86WP7|Q8NGW4	Silent	SNP	ENST00000378661.2	37	c.183C>T	CCDS1810.1																																																																																				0.612	OXER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250514.1	NM_148962		8	20	0	0	0	1	0	8	20				
ALOX12B	242	broad.mit.edu	37	17	7977036	7977036	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr17:7977036C>T	ENST00000319144.4	-	13	1954	c.1694G>A	c.(1693-1695)cGa>cAa	p.R565Q	ALOX12B_ENST00000577351.1_Intron	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	565	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						AGTGACATATCGGATCAGCTC	0.622										Multiple Myeloma(8;0.094)	OREG0024152	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002gjy.1																			0		p.R565R(1)		endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						c.(1693-1695)cGa>cAa		Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA.							92.0	75.0	81.0					17																	7977036		2203	4300	6503	SO:0001583	missense	242				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7977036C>T	AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"""Arachidonate lipoxygenases"""	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.1694G>A	17.37:g.7977036C>T	ENSP00000315167:p.Arg565Gln	Multiple Myeloma(8;0.094)	OREG0024152	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	645		p.R565Q	NM_001139	NP_001130	O75342	LX12B_HUMAN			12	1955	-			565			Lipoxygenase.			Missense_Mutation	SNP	ENST00000319144.4	37	c.1694G>A	CCDS11129.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.941563	0.34283	.	.	ENSG00000179477	ENST00000319144	D	0.89485	-2.52	5.08	3.85	0.44370	Lipoxygenase, C-terminal (3);	0.273257	0.32868	N	0.005552	T	0.76608	0.4011	N	0.17800	0.525	0.20074	N	0.999937	B	0.26809	0.16	B	0.19946	0.027	T	0.61212	-0.7108	10	0.21540	T	0.41	-1.2885	6.3715	0.21483	0.0:0.6434:0.0:0.3566	.	565	O75342	LX12B_HUMAN	Q	565	ENSP00000315167:R565Q	ENSP00000315167:R565Q	R	-	2	0	ALOX12B	7917761	0.700000	0.27796	0.998000	0.56505	0.946000	0.59487	1.081000	0.30791	0.803000	0.34113	0.650000	0.86243	CGA		0.622	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3			3	20	0	0	0	1	0	3	20				
ZMYND8	23613	broad.mit.edu	37	20	45947814	45947814	+	Intron	SNP	A	A	G			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr20:45947814A>G	ENST00000311275.7	-	3	279				ZMYND8_ENST00000262975.4_Intron|ZMYND8_ENST00000352431.2_Intron|ZMYND8_ENST00000461685.1_Intron|ZMYND8_ENST00000396281.4_Intron|AL031666.2_ENST00000599904.1_Silent_p.G150G|ZMYND8_ENST00000536340.1_Intron|ZMYND8_ENST00000372023.3_Intron|ZMYND8_ENST00000471951.2_Intron|ZMYND8_ENST00000355972.4_Intron|ZMYND8_ENST00000540497.1_Intron|ZMYND8_ENST00000360911.3_Intron|ZMYND8_ENST00000468376.2_5'Flank|ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000446994.2_Intron	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TCCCAGGGGGAGGAGGAAGAA	0.592																																						uc010zyb.2																			0											c.(448-450)ggA>ggG		Homo sapiens uncharacterized LOC100131496 (LOC100131496), non-coding RNA.							16.0	14.0	15.0					20																	45947814		876	1991	2867	SO:0001627	intron_variant	100131496							g.chr20:45947814A>G	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.26-8866T>C	20.37:g.45947814A>G						ZMYND8_uc010ghr.1_Intron|ZMYND8_uc002xst.1_Intron|ZMYND8_uc002xsu.1_Intron|ZMYND8_uc002xsv.1_Intron|ZMYND8_uc002xsw.1_Intron|ZMYND8_uc002xsx.1_Intron|ZMYND8_uc002xsy.1_Intron|ZMYND8_uc002xsz.1_Intron|ZMYND8_uc002xta.1_Intron|ZMYND8_uc010zxy.1_Intron|ZMYND8_uc002xtb.1_Intron|ZMYND8_uc002xss.2_Intron|ZMYND8_uc010zxz.1_Intron|ZMYND8_uc002xtc.1_Intron|ZMYND8_uc002xtd.1_Intron|ZMYND8_uc002xte.1_Intron|ZMYND8_uc010zya.1_Intron|ZMYND8_uc002xtf.1_Intron|ZMYND8_uc002xtg.3_5'Flank|ZMYND8_uc010ghs.2_Intron|ZMYND8_uc002xth.3_Intron	p.G150G							0	569	+								B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Silent	SNP	ENST00000311275.7	37	c.450A>G																																																																																					0.592	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		2	7	0	0	0	1	0	2	7				
TAF7L	54457	broad.mit.edu	37	X	100547854	100547854	+	Silent	SNP	G	G	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chrX:100547854G>A	ENST00000372907.3	-	1	191	c.180C>T	c.(178-180)gaC>gaT	p.D60D	TAF7L_ENST00000356784.1_5'Flank|TAF7L_ENST00000372905.2_De_novo_Start_OutOfFrame	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	60					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						GAGTGTCCTCGTCGGCAGGAA	0.562																																					Ovarian(104;431 1530 3210 15406 18594)	uc004ehb.3																			0		p.A59A(1)		NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(178-180)gaC>gaT		Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA.							119.0	116.0	117.0					X																	100547854		2203	4300	6503	SO:0001819	synonymous_variant	54457				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding	g.chrX:100547854G>A	AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"""cancer/testis antigen 40"""	300314	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"""	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.180C>T	X.37:g.100547854G>A						TAF7L_uc004ehc.2_5'Flank	p.D60D	NM_024885	NP_001161946	Q5H9L4	TAF7L_HUMAN			0	206	-			60					Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Silent	SNP	ENST00000372907.3	37	c.180C>T	CCDS35347.1																																																																																				0.562	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2			65	27	0	0	0	1	0	65	27				
FA2H	79152	broad.mit.edu	37	16	74750252	74750252	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr16:74750252C>G	ENST00000219368.3	-	6	1101	c.1032G>C	c.(1030-1032)caG>caC	p.Q344H	FA2H_ENST00000544337.1_Missense_Mutation_p.Q131H	NM_024306.4	NP_077282.3	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	344					cell death (GO:0008219)|central nervous system myelin maintenance (GO:0032286)|fatty acid biosynthetic process (GO:0006633)|lipid modification (GO:0030258)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of cell proliferation (GO:0042127)|regulation of hair cycle (GO:0042634)|sebaceous gland cell differentiation (GO:0001949)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	fatty acid alpha-hydroxylase activity (GO:0080132)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						CACCTGACTTCTGATGTGCAA	0.542																																						uc002fde.2																			0				endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						c.(1030-1032)caG>caC		Homo sapiens fatty acid 2-hydroxylase (FA2H), mRNA.							100.0	85.0	90.0					16																	74750252		2198	4300	6498	SO:0001583	missense	79152				cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity	g.chr16:74750252C>G	BC002679	CCDS10911.1	16q23	2013-03-04	2003-10-29	2003-10-31	ENSG00000103089	ENSG00000103089		"""Fatty acid hydroxylase domain containing"""	21197	protein-coding gene	gene with protein product	"""fatty acid hydroxylase"""	611026	"""fatty acid hydroxylase domain containing 1"", ""spastic paraplegia 35 (autosomal recessive)"""	FAXDC1, SPG35		20104589	Standard	NM_024306		Approved	FAAH, FLJ25287	uc002fde.2	Q7L5A8	OTTHUMG00000137603	ENST00000219368.3:c.1032G>C	16.37:g.74750252C>G	ENSP00000219368:p.Gln344His					FA2H_uc002fdd.2_Missense_Mutation_p.Q117H|FA2H_uc010vmy.2_Non-coding_Transcript	p.Q344H	NM_024306	NP_077282	Q7L5A8	FA2H_HUMAN			5	1108	-			344					B7Z8T6|O75213|Q96DK1|Q9H1A5	Missense_Mutation	SNP	ENST00000219368.3	37	c.1032G>C	CCDS10911.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.074800	0.36566	.	.	ENSG00000103089	ENST00000219368;ENST00000544337	D;D	0.86097	-2.07;-2.07	5.4	1.98	0.26296	.	0.050919	0.85682	N	0.000000	T	0.72590	0.3479	L	0.43152	1.355	0.45648	D	0.998578	B;B	0.30741	0.293;0.071	B;B	0.28991	0.097;0.038	T	0.58983	-0.7539	10	0.13853	T	0.58	-9.8988	3.5304	0.07774	0.1871:0.4844:0.0:0.3285	.	344;252	Q7L5A8;B2RDE6	FA2H_HUMAN;.	H	344;131	ENSP00000219368:Q344H;ENSP00000442334:Q131H	ENSP00000219368:Q344H	Q	-	3	2	FA2H	73307753	1.000000	0.71417	0.996000	0.52242	0.934000	0.57294	1.113000	0.31184	0.649000	0.30751	0.655000	0.94253	CAG		0.542	FA2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269015.2	NM_024306		7	42	0	0	0	1	0	7	42				
ZSCAN5B	342933	broad.mit.edu	37	19	56701879	56701879	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr19:56701879C>T	ENST00000586855.2	-	5	1118	c.805G>A	c.(805-807)Gac>Aac	p.D269N	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.D269N			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	269					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GAAGGTGTGTCAGCATCCACA	0.502																																						uc010ygh.2																			0				breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(805-807)Gac>Aac		Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.							124.0	121.0	122.0					19																	56701879		2203	4300	6503	SO:0001583	missense	342933				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56701879C>T		CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"""-"", ""Zinc fingers, C2H2-type"""	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.805G>A	19.37:g.56701879C>T	ENSP00000466072:p.Asp269Asn						p.D269N	NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN			3	805	-			269						Missense_Mutation	SNP	ENST00000586855.2	37	c.805G>A	CCDS46203.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.347857	0.41599	.	.	ENSG00000197213	ENST00000358992	T	0.05717	3.4	1.86	1.86	0.25419	.	.	.	.	.	T	0.17959	0.0431	M	0.76574	2.34	0.09310	N	1	D	0.69078	0.997	D	0.77004	0.989	T	0.15122	-1.0448	9	0.16420	T	0.52	.	7.274	0.26273	0.0:1.0:0.0:0.0	.	269	A6NJL1	ZSA5B_HUMAN	N	269	ENSP00000351883:D269N	ENSP00000351883:D269N	D	-	1	0	ZSCAN5B	61393691	0.000000	0.05858	0.004000	0.12327	0.040000	0.13550	0.399000	0.20916	1.356000	0.45884	0.306000	0.20318	GAC		0.502	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456		24	111	0	0	0	1	0	24	111				
KHNYN	23351	broad.mit.edu	37	14	24900883	24900883	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr14:24900883C>T	ENST00000251343.5	+	3	555	c.416C>T	c.(415-417)gCa>gTa	p.A139V	CBLN3_ENST00000267406.6_5'Flank|CBLN3_ENST00000555436.1_5'Flank|KHNYN_ENST00000554268.1_5'Flank|KHNYN_ENST00000553935.1_Missense_Mutation_p.A139V|KHNYN_ENST00000556842.1_Missense_Mutation_p.A139V			O15037	KHNYN_HUMAN	KH and NYN domain containing	139							RNA binding (GO:0003723)			kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						GAAGAGCTGGCAGAGCGGCTG	0.622											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010tpc.2																			0				kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						c.(538-540)gCa>gTa		Homo sapiens KH and NYN domain containing (KHNYN), mRNA.							50.0	57.0	55.0					14																	24900883		2203	4300	6503	SO:0001583	missense	23351							g.chr14:24900883C>T	AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"""KIAA0323"""	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.416C>T	14.37:g.24900883C>T	ENSP00000251343:p.Ala139Val		OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	774	KHNYN_uc001wph.4_Missense_Mutation_p.A139V|KHNYN_uc010alw.3_Missense_Mutation_p.A139V|CBLN3_uc001wpg.4_5'Flank	p.A180V	NM_015299	NP_056114	O15037	KHNYN_HUMAN			2	555	+			139					Q86TZ6|Q8IUQ2|Q96BA9	Missense_Mutation	SNP	ENST00000251343.5	37	c.539C>T	CCDS32058.1	.	.	.	.	.	.	.	.	.	.	C	0.031	-1.331967	0.01298	.	.	ENSG00000100441	ENST00000251343;ENST00000556842;ENST00000553935	T;T;T	0.38722	1.12;1.12;1.12	5.04	-2.81	0.05805	.	0.675193	0.13453	N	0.386742	T	0.08403	0.0209	N	0.00496	-1.435	0.35182	D	0.772539	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44922	-0.9296	10	0.02654	T	1	.	5.0214	0.14363	0.1321:0.3312:0.0:0.5367	.	180;139	D3DS77;O15037	.;KHNYN_HUMAN	V	139	ENSP00000251343:A139V;ENSP00000451106:A139V;ENSP00000450799:A139V	ENSP00000251343:A139V	A	+	2	0	KHNYN	23970723	0.969000	0.33509	0.647000	0.29507	0.109000	0.19521	0.392000	0.20801	-0.211000	0.10124	-0.440000	0.05779	GCA		0.622	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412928.1			8	55	0	0	0	1	0	8	55				
UNC13A	23025	broad.mit.edu	37	19	17756912	17756912	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr19:17756912C>T	ENST00000519716.2	-	18	2052	c.2053G>A	c.(2053-2055)Gcc>Acc	p.A685T	UNC13A_ENST00000550896.1_Missense_Mutation_p.A683T|UNC13A_ENST00000552293.1_Missense_Mutation_p.A685T|UNC13A_ENST00000551649.1_Missense_Mutation_p.A685T|UNC13A_ENST00000252773.7_Missense_Mutation_p.A685T|UNC13A_ENST00000428389.2_Missense_Mutation_p.A773T	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	685	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)	p.A685T(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						AAGCCCTGGGCGCAGACCACT	0.557																																						uc021uqk.1																			1	Substitution - Missense(1)	p.A685T(1)	large_intestine(1)	breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						c.(2050-2052)Gcc>Acc		Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.							67.0	66.0	66.0					19																	17756912		2078	4249	6327	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17756912C>T	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.2053G>A	19.37:g.17756912C>T	ENSP00000429562:p.Ala685Thr						p.A684T	NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN			17	2092	-			685			C2 2.		E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.2050G>A	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052219	0.75960	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	D;D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94;-1.94	3.47	3.47	0.39725	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	U	0.000001	D	0.93598	0.7956	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94841	0.8005	10	0.87932	D	0	-20.1126	12.8397	0.57794	0.0:1.0:0.0:0.0	.	685	Q9UPW8	UN13A_HUMAN	T	685;773;685;685;685;683	ENSP00000429562:A685T;ENSP00000400409:A773T;ENSP00000252773:A685T;ENSP00000447236:A685T;ENSP00000447572:A685T;ENSP00000446831:A683T	ENSP00000252773:A685T	A	-	1	0	UNC13A	17617912	1.000000	0.71417	0.998000	0.56505	0.630000	0.37929	7.595000	0.82710	1.688000	0.51068	0.306000	0.20318	GCC		0.557	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		5	23	0	0	0	1	0	5	23				
ATG14	22863	broad.mit.edu	37	14	55848817	55848817	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr14:55848817G>A	ENST00000247178.5	-	6	775	c.740C>T	c.(739-741)tCa>tTa	p.S247L		NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14	247					autophagic vacuole assembly (GO:0000045)|endosome to lysosome transport (GO:0008333)|positive regulation of autophagy (GO:0010508)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|pre-autophagosomal structure membrane (GO:0034045)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						CCATCGTCCTGAGAGGTAAGT	0.532																																						uc001xbx.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						c.(739-741)tCa>tTa		Homo sapiens ATG14 autophagy related 14 homolog (S. cerevisiae) (ATG14), mRNA.							182.0	154.0	163.0					14																	55848817		2203	4300	6503	SO:0001583	missense	22863				autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding	g.chr14:55848817G>A	AB020638	CCDS32087.1	14q22.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000126775	ENSG00000126775			19962	protein-coding gene	gene with protein product	"""Barkor"", ""beclin 1-associated autophagy-related key regulator"""	613515	"""KIAA0831"", ""ATG14 autophagy related 14 homolog (S. cerevisiae)"""	KIAA0831		18843052	Standard	NM_014924		Approved	ATG14L	uc001xbx.2	Q6ZNE5	OTTHUMG00000172129	ENST00000247178.5:c.740C>T	14.37:g.55848817G>A	ENSP00000247178:p.Ser247Leu					FBXO34_uc001xbv.3_Intron|ATG14_uc001xbw.2_Missense_Mutation_p.S134L	p.S247L	NM_014924	NP_055739	Q6ZNE5	BAKOR_HUMAN			5	776	-			247					A6NJE4|A8K9U5|B7ZWP5|O94920|Q32MK7|Q32MK8	Missense_Mutation	SNP	ENST00000247178.5	37	c.740C>T	CCDS32087.1	.	.	.	.	.	.	.	.	.	.	g	20.2	3.955424	0.73902	.	.	ENSG00000126775	ENST00000247178	T	0.33216	1.42	5.87	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.48874	0.1524	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.44406	-0.9330	10	0.42905	T	0.14	-9.6849	17.1487	0.86773	0.0:0.1263:0.8737:0.0	.	247	Q6ZNE5	BAKOR_HUMAN	L	247	ENSP00000247178:S247L	ENSP00000247178:S247L	S	-	2	0	ATG14	54918570	1.000000	0.71417	0.097000	0.21041	0.542000	0.35054	9.614000	0.98353	1.464000	0.47987	0.650000	0.86243	TCA		0.532	ATG14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416992.1	NM_014924		21	81	0	0	0	1	0	21	81				
SNX31	169166	broad.mit.edu	37	8	101661544	101661544	+	Silent	SNP	G	G	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr8:101661544G>A	ENST00000311812.2	-	2	249	c.99C>T	c.(97-99)ttC>ttT	p.F33F		NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	33	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	protein complex (GO:0043234)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			GCACCCTGCAGAAGAGGAACC	0.612																																						uc003yjr.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26						c.(97-99)ttC>ttT		Homo sapiens sorting nexin 31 (SNX31), mRNA.							69.0	67.0	68.0					8																	101661544		2203	4300	6503	SO:0001819	synonymous_variant	169166				cell communication|protein transport		phosphatidylinositol binding	g.chr8:101661544G>A		CCDS6288.1	8q22.3	2011-05-03			ENSG00000174226	ENSG00000174226		"""Sorting nexins"""	28605	protein-coding gene	gene with protein product						16782399	Standard	NM_152628		Approved	MGC39715	uc003yjr.3	Q8N9S9	OTTHUMG00000164725	ENST00000311812.2:c.99C>T	8.37:g.101661544G>A							p.F33F	NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)		1	250	-	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		33			PX.		C9J6L9|Q8N0U9	Silent	SNP	ENST00000311812.2	37	c.99C>T	CCDS6288.1																																																																																				0.612	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379910.1	NM_152628		4	34	0	0	0	1	0	4	34				
TTBK2	146057	broad.mit.edu	37	15	43067809	43067809	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr15:43067809C>T	ENST00000267890.6	-	13	1630	c.1522G>A	c.(1522-1524)Gat>Aat	p.D508N		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	508					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TATTCTTCATCATAGTGCCAG	0.502																																						uc001zqo.2																			0				NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43						c.(1522-1524)Gat>Aat		Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.							103.0	100.0	101.0					15																	43067809		1989	4155	6144	SO:0001583	missense	146057				cell death		ATP binding|protein serine/threonine kinase activity	g.chr15:43067809C>T	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.1522G>A	15.37:g.43067809C>T	ENSP00000267890:p.Asp508Asn					TTBK2_uc010bcy.2_Missense_Mutation_p.D439N	p.D508N	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN		GBM - Glioblastoma multiforme(94;3.23e-07)	12	1961	-		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)	508					O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	ENST00000267890.6	37	c.1522G>A	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	C	36	5.691451	0.96793	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.66099	-0.19	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.79100	0.4389	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.961;0.996	T	0.79077	-0.1951	10	0.87932	D	0	.	20.4024	0.99000	0.0:1.0:0.0:0.0	.	439;508	Q6IQ55-2;Q6IQ55	.;TTBK2_HUMAN	N	508;438;913	ENSP00000267890:D508N	ENSP00000263802:D913N	D	-	1	0	TTBK2	40855101	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.294000	0.78760	2.827000	0.97445	0.650000	0.86243	GAT		0.502	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500		12	80	0	0	0	1	0	12	80				
CREB3L3	84699	broad.mit.edu	37	19	4154971	4154971	+	Missense_Mutation	SNP	G	G	A	rs201474344		TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr19:4154971G>A	ENST00000078445.2	+	2	250	c.103G>A	c.(103-105)Ggc>Agc	p.G35S	CREB3L3_ENST00000602257.1_Missense_Mutation_p.G35S|CREB3L3_ENST00000595923.1_Missense_Mutation_p.G35S|CREB3L3_ENST00000602147.1_Missense_Mutation_p.G35S|CREB3L3_ENST00000252587.3_Missense_Mutation_p.G26S	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	35					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGCAGGACGGCATCCTGAG	0.637																																						uc002lzl.3																			0				breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24						c.(103-105)Ggc>Agc		Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA.		G	SER/GLY	2,4404	4.2+/-10.8	0,2,2201	96.0	84.0	88.0		103	5.2	0.9	19		88	0,8600		0,0,4300	no	missense	CREB3L3	NM_032607.1	56	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	35/462	4154971	2,13004	2203	4300	6503	SO:0001583	missense	84699				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:4154971G>A		CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"""basic leucine zipper proteins"""	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.103G>A	19.37:g.4154971G>A	ENSP00000078445:p.Gly35Ser					CREB3L3_uc002lzm.3_Missense_Mutation_p.G26S|CREB3L3_uc010xib.2_Missense_Mutation_p.G26S|CREB3L3_uc010xic.2_Missense_Mutation_p.G26S	p.G35S	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)	1	219	+			35					B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Missense_Mutation	SNP	ENST00000078445.2	37	c.103G>A	CCDS12121.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.674006	0.67928	4.54E-4	0.0	ENSG00000060566	ENST00000078445;ENST00000381943;ENST00000252587	D;D	0.91686	-2.89;-2.89	5.18	5.18	0.71444	.	0.057246	0.64402	D	0.000001	D	0.94785	0.8316	M	0.72894	2.215	0.37460	D	0.915194	D;D;D;D	0.89917	1.0;0.998;0.999;0.998	D;P;P;P	0.91635	0.999;0.757;0.877;0.757	D	0.93625	0.6951	10	0.16420	T	0.52	-9.6483	14.2452	0.65983	0.0:0.0:1.0:0.0	.	35;35;35;35	Q68CJ9-3;B7ZL69;Q68CJ9-2;Q68CJ9	.;.;.;CR3L3_HUMAN	S	35;35;26	ENSP00000078445:G35S;ENSP00000252587:G26S	ENSP00000078445:G35S	G	+	1	0	CREB3L3	4105971	1.000000	0.71417	0.897000	0.35233	0.238000	0.25445	5.804000	0.69135	2.428000	0.82296	0.306000	0.20318	GGC		0.637	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1	NM_032607		26	63	0	0	0	1	0	26	63				
TYMP	1890	broad.mit.edu	37	22	50967746	50967746	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr22:50967746C>A	ENST00000252029.3	-	3	398	c.236G>T	c.(235-237)cGa>cTa	p.R79L	TYMP_ENST00000395681.1_Missense_Mutation_p.R79L|TYMP_ENST00000395680.1_Missense_Mutation_p.R79L|TYMP_ENST00000395678.3_Missense_Mutation_p.R79L|SCO2_ENST00000543927.1_5'Flank	NM_001113755.2|NM_001113756.2|NM_001257988.1|NM_001257989.1|NM_001953.4	NP_001107227.1|NP_001107228.1|NP_001244917.1|NP_001244918.1|NP_001944.1	P19971	TYPH_HUMAN	thymidine phosphorylase	79					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|chemotaxis (GO:0006935)|DNA replication (GO:0006260)|mitochondrial genome maintenance (GO:0000002)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphorylase activity (GO:0004645)|platelet-derived growth factor receptor binding (GO:0005161)|pyrimidine-nucleoside phosphorylase activity (GO:0016154)|thymidine phosphorylase activity (GO:0009032)|transferase activity, transferring pentosyl groups (GO:0016763)			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Cidofovir(DB00369)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Trifluridine(DB00432)	GCCCCGAAGTCGGATGGCCAT	0.692																																						uc003bme.4																			0				large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5						c.(235-237)cGa>cTa		Homo sapiens thymidine phosphorylase (TYMP), transcript variant 2, mRNA.	Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675)						40.0	41.0	41.0					22																	50967746		2203	4298	6501	SO:0001583	missense	1890				DNA replication|angiogenesis|cell differentiation|chemotaxis|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol	growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity	g.chr22:50967746C>A	M63193	CCDS14096.1, CCDS58811.1	22q13	2014-09-17	2008-01-21	2008-01-21	ENSG00000025708	ENSG00000025708	2.4.2.4		3148	protein-coding gene	gene with protein product	"""gliostatin"""	131222	"""endothelial cell growth factor 1 (platelet-derived)"""	MNGIE, ECGF1		1590793, 11733540	Standard	NM_001113755		Approved		uc003bme.5	P19971	OTTHUMG00000150249	ENST00000252029.3:c.236G>T	22.37:g.50967746C>A	ENSP00000252029:p.Arg79Leu					SCO2_uc021wsa.1_5'Flank|TYMP_uc003bmb.4_Missense_Mutation_p.R79L|TYMP_uc003bmc.4_Missense_Mutation_p.R79L|TYMP_uc010hbd.3_Missense_Mutation_p.R79L|TYMP_uc003bmd.4_Missense_Mutation_p.R79L|TYMP_uc011arz.1_Missense_Mutation_p.R79L	p.R79L	NM_001953	NP_001944	P19971	TYPH_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	2	428	-		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	79					A8MW15|H9KVA0|Q13390|Q8WVB7	Missense_Mutation	SNP	ENST00000252029.3	37	c.236G>T	CCDS14096.1	.	.	.	.	.	.	.	.	.	.	C	9.085	1.000211	0.19121	.	.	ENSG00000025708	ENST00000395680;ENST00000395681;ENST00000252029;ENST00000395678;ENST00000425169	D;D;D;D;D	0.94793	-3.52;-3.52;-3.52;-3.52;-3.52	4.76	3.73	0.42828	Glycosyl transferase, family 3, N-terminal (2);Glycosyl transferase, family 3, subgroup, N-terminal (1);	0.155014	0.46145	D	0.000307	D	0.88157	0.6361	N	0.20685	0.6	0.46044	D	0.998832	P;P;P;P	0.52170	0.951;0.907;0.907;0.907	B;B;B;B	0.40602	0.334;0.236;0.236;0.236	D	0.87543	0.2460	10	0.66056	D	0.02	-8.504	10.6052	0.45390	0.0:0.9036:0.0:0.0964	.	79;79;79;79	B4DVR2;B2RBL3;E5KRG5;P19971	.;.;.;TYPH_HUMAN	L	79	ENSP00000379037:R79L;ENSP00000379038:R79L;ENSP00000252029:R79L;ENSP00000379036:R79L;ENSP00000395875:R79L	ENSP00000252029:R79L	R	-	2	0	TYMP	49314612	0.994000	0.37717	0.836000	0.33094	0.324000	0.28378	2.403000	0.44530	0.992000	0.38840	0.462000	0.41574	CGA		0.692	TYMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317081.1	NM_001953		13	26	0	0	0	1	0	13	26				
MYO9B	4650	broad.mit.edu	37	19	17313022	17313022	+	Silent	SNP	G	G	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr19:17313022G>A	ENST00000594824.1	+	28	4893	c.4746G>A	c.(4744-4746)caG>caA	p.Q1582Q	MYO9B_ENST00000397274.2_Silent_p.Q1582Q|MYO9B_ENST00000595618.1_Silent_p.Q1582Q			Q13459	MYO9B_HUMAN	myosin IXB	1582	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AGCGTGGCCAGAAGGACACCA	0.562																																						uc010eak.3																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.(4744-4746)caG>caA		Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.							42.0	45.0	44.0					19																	17313022		2013	4181	6194	SO:0001819	synonymous_variant	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor activity	g.chr19:17313022G>A		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.4746G>A	19.37:g.17313022G>A						MYO9B_uc002nfi.3_Silent_p.Q1582Q|MYO9B_uc002nfj.1_Silent_p.Q1582Q|MYO9B_uc002nfl.1_Silent_p.Q131Q	p.Q1582Q	NM_004145	NP_004136	Q13459	MYO9B_HUMAN			27	4898	+			1582			Tail.		O75314|Q9NUJ2|Q9UHN0	Silent	SNP	ENST00000594824.1	37	c.4746G>A																																																																																					0.562	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			5	12	0	0	0	1	0	5	12				
SLC39A2	29986	broad.mit.edu	37	14	21468323	21468323	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr14:21468323C>T	ENST00000298681.4	+	3	452	c.295C>T	c.(295-297)Cat>Tat	p.H99Y	SLC39A2_ENST00000554422.1_3'UTR|RP11-84C10.4_ENST00000557335.1_RNA	NM_014579.3	NP_055394.2	Q9NP94	S39A2_HUMAN	solute carrier family 39 (zinc transporter), member 2	99					transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		TGATTCAGCTCATGTAAGTAC	0.463																																						uc001vyr.3																			0				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14						c.(295-297)Cat>Tat		Homo sapiens solute carrier family 39 (zinc transporter), member 2 (SLC39A2), transcript variant 1, mRNA.							109.0	95.0	100.0					14																	21468323		2203	4300	6503	SO:0001583	missense	29986					cytoplasmic membrane-bounded vesicle|integral to plasma membrane	zinc ion transmembrane transporter activity	g.chr14:21468323C>T	AF186081	CCDS9563.1, CCDS58303.1	14q11.1	2013-05-22			ENSG00000165794	ENSG00000165794		"""Solute carriers"""	17127	protein-coding gene	gene with protein product		612166				10681536, 7751801	Standard	NM_014579		Approved	ZIP2	uc001vyr.3	Q9NP94	OTTHUMG00000029616	ENST00000298681.4:c.295C>T	14.37:g.21468323C>T	ENSP00000298681:p.His99Tyr					SLC39A2_uc001vys.3_5'UTR	p.H99Y	NM_014579	NP_055394	Q9NP94	S39A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)	2	487	+	all_cancers(95;0.00267)		99					B2RC76|G3V5X2|Q4QQJ1|Q4V9S4|Q96JT6|Q9UD20	Missense_Mutation	SNP	ENST00000298681.4	37	c.295C>T	CCDS9563.1	.	.	.	.	.	.	.	.	.	.	C	0.354	-0.943163	0.02322	.	.	ENSG00000165794	ENST00000298681	T	0.08102	3.13	5.27	-5.19	0.02832	.	3.072470	0.00674	N	0.000649	T	0.02342	0.0072	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38845	-0.9642	10	0.02654	T	1	13.8239	4.1357	0.10169	0.1183:0.186:0.1167:0.579	.	99	Q9NP94	S39A2_HUMAN	Y	99	ENSP00000298681:H99Y	ENSP00000298681:H99Y	H	+	1	0	SLC39A2	20538163	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	-0.887000	0.04152	-0.684000	0.05183	-0.150000	0.13652	CAT		0.463	SLC39A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073829.2	NM_014579		7	41	0	0	0	1	0	7	41				
PPP1R14C	81706	broad.mit.edu	37	6	150464574	150464574	+	Silent	SNP	G	G	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr6:150464574G>T	ENST00000361131.4	+	1	363	c.246G>T	c.(244-246)cgG>cgT	p.R82R		NM_030949.2	NP_112211.1	Q8TAE6	PP14C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14C	82					regulation of phosphorylation (GO:0042325)	cytoplasm (GO:0005737)|membrane (GO:0016020)	protein serine/threonine phosphatase inhibitor activity (GO:0004865)			endometrium(1)|large_intestine(1)|prostate(1)	3		Ovarian(120;0.0284)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)		AGGAGCTTCGGAAGCGGCTGG	0.647																																					Melanoma(165;1879 1941 2052 16588 48349)	uc003qnt.3																			0				endometrium(1)|large_intestine(1)|prostate(1)	3						c.(244-246)cgG>cgT		Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 14C (PPP1R14C), mRNA.							37.0	39.0	39.0					6																	150464574		2203	4300	6503	SO:0001819	synonymous_variant	81706				regulation of phosphorylation	cytoplasm|membrane		g.chr6:150464574G>T	AF308297	CCDS5226.1	6q24.3-q25.3	2012-04-17			ENSG00000198729	ENSG00000198729		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14952	protein-coding gene	gene with protein product	"""kinase C-enhanced PP1 inhibitor"""	613242				11948623	Standard	NM_030949		Approved	CPI17-like, NY-BR-81, KEPI	uc003qnt.3	Q8TAE6	OTTHUMG00000015818	ENST00000361131.4:c.246G>T	6.37:g.150464574G>T							p.R82R	NM_030949	NP_112211	Q8TAE6	PP14C_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)	0	387	+		Ovarian(120;0.0284)	82					Q5VY83|Q96BB1|Q9H277	Silent	SNP	ENST00000361131.4	37	c.246G>T	CCDS5226.1																																																																																				0.647	PPP1R14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042685.1	NM_030949		7	16	0	0	0	1	0	7	16				
OR10Q1	219960	broad.mit.edu	37	11	57995529	57995529	+	Silent	SNP	C	C	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr11:57995529C>T	ENST00000316770.2	-	1	861	c.819G>A	c.(817-819)gaG>gaA	p.E273E		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				TGTCCTCATCCTCTGAGGTGC	0.572																																						uc010rkd.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35						c.(817-819)gaG>gaA		Homo sapiens olfactory receptor, family 10, subfamily Q, member 1 (OR10Q1), mRNA.							105.0	93.0	97.0					11																	57995529		2201	4295	6496	SO:0001819	synonymous_variant	219960				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57995529C>T	AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"""GPCR / Class A : Olfactory receptors"""	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.819G>A	11.37:g.57995529C>T							p.E273E	NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN			0	862	-		Breast(21;0.0589)	273					Q6IFG4	Silent	SNP	ENST00000316770.2	37	c.819G>A	CCDS31547.1																																																																																				0.572	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394706.1	NM_001004471		30	38	0	0	0	1	0	30	38				
OXER1	165140	broad.mit.edu	37	2	42991084	42991084	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr2:42991084G>C	ENST00000378661.2	-	1	317	c.236C>G	c.(235-237)tCt>tGt	p.S79C		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	79	Ser-rich.				G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cAMP biosynthetic process (GO:0030817)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050648)|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050647)|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050646)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						GGGCCCTCCAGAGGACCCCCC	0.627																																						uc002rss.3																			0		p.S78fs*61(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						c.(235-237)tCt>tGt		Homo sapiens oxoeicosanoid (OXE) receptor 1 (OXER1), mRNA.							30.0	34.0	33.0					2																	42991084		2203	4300	6503	SO:0001583	missense	165140				regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity	g.chr2:42991084G>C	AB083055	CCDS1810.1	2p22.1	2012-08-10			ENSG00000162881	ENSG00000162881		"""GPCR / Class A : Leukotriene receptors"""	24884	protein-coding gene	gene with protein product	"""5-oxo-ETE acid G-protein-coupled receptor 1"""					12065583, 15001665	Standard	NM_148962		Approved	GPCR, TG1019, GPR170	uc002rss.3	Q8TDS5	OTTHUMG00000128643	ENST00000378661.2:c.236C>G	2.37:g.42991084G>C	ENSP00000367930:p.Ser79Cys						p.S79C	NM_148962	NP_683765	Q8TDS5	OXER1_HUMAN			0	318	-			79			Ser-rich.		Q86WP7|Q8NGW4	Missense_Mutation	SNP	ENST00000378661.2	37	c.236C>G	CCDS1810.1	.	.	.	.	.	.	.	.	.	.	G	8.765	0.924573	0.18056	.	.	ENSG00000162881	ENST00000378661	T	0.61510	0.1	2.7	-0.823	0.10815	.	1.098910	0.07490	U	0.905469	T	0.32346	0.0826	N	0.08118	0	0.09310	N	1	B	0.23185	0.081	B	0.14023	0.01	T	0.20405	-1.0276	10	0.59425	D	0.04	.	3.9433	0.09338	0.1345:0.0:0.3617:0.5038	.	79	Q8TDS5	OXER1_HUMAN	C	79	ENSP00000367930:S79C	ENSP00000367930:S79C	S	-	2	0	OXER1	42844588	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.048000	0.14078	-0.192000	0.10432	0.555000	0.69702	TCT		0.627	OXER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250514.1	NM_148962		9	20	0	0	0	1	0	9	20				
CNTRL	11064	broad.mit.edu	37	9	123936008	123936008	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr9:123936008G>A	ENST00000373855.1	+	42	7000	c.6740G>A	c.(6739-6741)cGa>cAa	p.R2247Q	CNTRL_ENST00000373850.1_Missense_Mutation_p.R1695Q|CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000238341.5_Missense_Mutation_p.R2247Q			Q7Z7A1	CNTRL_HUMAN	centriolin	2247	Sufficient for interaction with HOOK2.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						CGGGAAGACCGACTCAAGGTT	0.463																																						uc004bkx.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						c.(6739-6741)cGa>cAa		Homo sapiens centriolin (CNTRL), mRNA.							110.0	117.0	114.0					9																	123936008		2203	4300	6503	SO:0001583	missense	11064				G2/M transition of mitotic cell cycle|cell division	centrosome|cytosol	protein binding	g.chr9:123936008G>A	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.6740G>A	9.37:g.123936008G>A	ENSP00000362962:p.Arg2247Gln					CNTRL_uc004blb.1_Missense_Mutation_p.R916Q|CNTRL_uc010mvp.1_Missense_Mutation_p.R197Q	p.R2247Q	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN			39	6771	+			2247			Sufficient for interaction with HOOK2.		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	c.6740G>A	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.150376	0.37923	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000394368;ENST00000373850;ENST00000373845	T;T;T	0.33216	1.71;1.71;1.42	6.03	4.18	0.49190	.	.	.	.	.	T	0.19485	0.0468	L	0.28115	0.83	0.29888	N	0.825473	B	0.30193	0.272	B	0.15052	0.012	T	0.09400	-1.0676	9	0.27082	T	0.32	.	11.043	0.47842	0.1522:0.0:0.8478:0.0	.	2247	Q7Z7A1	CNTRL_HUMAN	Q	2247;2247;2247;404;1695;929	ENSP00000362962:R2247Q;ENSP00000238341:R2247Q;ENSP00000362956:R1695Q	ENSP00000238341:R2247Q	R	+	2	0	CNTRL	122975829	0.996000	0.38824	0.989000	0.46669	0.399000	0.30720	2.043000	0.41231	0.866000	0.35629	-0.140000	0.14226	CGA		0.463	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		18	108	0	0	0	1	0	18	108				
MRS2	57380	broad.mit.edu	37	6	24409748	24409748	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr6:24409748C>T	ENST00000378386.3	+	4	454	c.361C>T	c.(361-363)Cag>Tag	p.Q121*	MRS2_ENST00000274747.7_Intron|MRS2_ENST00000443868.2_Nonsense_Mutation_p.Q121*|MRS2_ENST00000543597.1_5'UTR|MRS2_ENST00000535061.1_Intron|MRS2_ENST00000378353.1_Nonsense_Mutation_p.Q121*|MRS2_ENST00000483634.1_Intron	NM_020662.2	NP_065713.1	Q9HD23	MRS2_HUMAN	MRS2 magnesium transporter	121						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						TTTGAGATTTCAGCATGTAAT	0.303																																						uc011djl.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						c.(361-363)Cag>Tag		Homo sapiens MRS2 magnesium homeostasis factor homolog (S. cerevisiae) (MRS2), mRNA.							88.0	90.0	89.0					6																	24409748		2203	4299	6502	SO:0001587	stop_gained	57380				ion transport	integral to membrane|mitochondrial inner membrane		g.chr6:24409748C>T	AF288288	CCDS4552.1, CCDS69055.1, CCDS69056.1, CCDS75408.1	6p22.3-p22.1	2013-05-03	2013-05-03	2008-01-18	ENSG00000124532	ENSG00000124532			13785	protein-coding gene	gene with protein product			"""MRS2-like, magnesium homeostasis factor (S. cerevisiae)"", ""MRS2 magnesium homeostasis factor homolog (S. cerevisiae)"""	MRS2L			Standard	XM_005249242		Approved		uc003neb.3	Q9HD23	OTTHUMG00000014355	ENST00000378386.3:c.361C>T	6.37:g.24409748C>T	ENSP00000367637:p.Gln121*					MRS2_uc003nea.3_Nonsense_Mutation_p.Q121*|MRS2_uc003neb.3_Nonsense_Mutation_p.Q121*|MRS2_uc011djm.2_Non-coding_Transcript|MRS2_uc011djn.2_Intron	p.Q121*	NM_020662	NP_065713	Q9HD23	MRS2_HUMAN			3	483	+			121					A8K4U3|B3KNN2|B4DQL2|Q5T3Y1|Q6NTG4|Q96KF8|Q9BVP1	Nonsense_Mutation	SNP	ENST00000378386.3	37	c.361C>T	CCDS4552.1	.	.	.	.	.	.	.	.	.	.	C	37	6.516849	0.97629	.	.	ENSG00000124532	ENST00000378386;ENST00000378353;ENST00000443868	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-25.1512	19.7727	0.96373	0.0:1.0:0.0:0.0	.	.	.	.	X	121	.	ENSP00000367604:Q121X	Q	+	1	0	MRS2	24517727	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.636000	0.83301	2.758000	0.94735	0.563000	0.77884	CAG		0.303	MRS2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040002.1			5	68	0	0	0	1	0	5	68				
PIBF1	10464	broad.mit.edu	37	13	73539420	73539420	+	Missense_Mutation	SNP	A	A	C			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr13:73539420A>C	ENST00000326291.6	+	15	2180	c.1842A>C	c.(1840-1842)agA>agC	p.R614S		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	614				DLEHRKDQVTQLSQELDR -> RSGTSKGPSNTAFTRSLTE (in Ref. 3; AAQ67659). {ECO:0000305}.		centrosome (GO:0005813)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		AGCTTGACAGAGCCAATTCGC	0.343																																						uc001vjc.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(1840-1842)agA>agC		Homo sapiens progesterone immunomodulatory binding factor 1 (PIBF1), mRNA.							77.0	74.0	75.0					13																	73539420		2202	4300	6502	SO:0001583	missense	10464					centrosome		g.chr13:73539420A>C	AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"""progesterone-induced blocking factor 1"""	607532	"""chromosome 13 open reading frame 24"""	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.1842A>C	13.37:g.73539420A>C	ENSP00000317144:p.Arg614Ser					PIBF1_uc001vjb.3_Missense_Mutation_p.R614S|PIBF1_uc010aep.3_Missense_Mutation_p.R73S	p.R614S	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN		GBM - Glioblastoma multiforme(99;0.000664)	14	2147	+		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)	614	DLEHRKDQVTQLSQELDR -> RSGTSKGPSNTAFTRSLTE (in Ref. 3; AAQ67659).				O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Missense_Mutation	SNP	ENST00000326291.6	37	c.1842A>C	CCDS31991.1	.	.	.	.	.	.	.	.	.	.	A	7.008	0.556202	0.13436	.	.	ENSG00000083535	ENST00000326291;ENST00000326314	T	0.26373	1.74	4.85	1.89	0.25635	.	0.232106	0.43747	D	0.000538	T	0.15955	0.0384	L	0.40543	1.245	0.43971	D	0.996659	P;P	0.36909	0.573;0.573	B;B	0.36666	0.23;0.23	T	0.10428	-1.0630	10	0.18276	T	0.48	-12.416	4.4416	0.11577	0.5655:0.0:0.2674:0.1671	.	614;614	Q8WXW3;Q4G0R1	PIBF1_HUMAN;.	S	614;73	ENSP00000317144:R614S	ENSP00000317144:R614S	R	+	3	2	PIBF1	72437421	0.999000	0.42202	1.000000	0.80357	0.645000	0.38454	0.350000	0.20079	0.148000	0.19059	-0.462000	0.05337	AGA		0.343	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045255.1	NM_006346		10	29	0	0	0	1	0	10	29				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333	NP_004324	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		18	53	0	0	0	1	0	18	53				
WHSC1L1	54904	broad.mit.edu	37	8	38205277	38205277	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr8:38205277G>A	ENST00000317025.8	-	2	930	c.413C>T	c.(412-414)tCg>tTg	p.S138L	WHSC1L1_ENST00000316985.3_Missense_Mutation_p.S138L|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.S138L|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.S138L	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	138					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TTGTGGTACCGAAGGAGGAGG	0.418			T	NUP98	AML																																	uc003xli.3				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		0				NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(412-414)tCg>tTg		Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA.							94.0	100.0	98.0					8																	38205277		2203	4300	6503	SO:0001583	missense	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38205277G>A	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.413C>T	8.37:g.38205277G>A	ENSP00000313983:p.Ser138Leu					WHSC1L1_uc011lbm.2_Missense_Mutation_p.S138L|WHSC1L1_uc010lwe.3_Missense_Mutation_p.S138L|WHSC1L1_uc003xlj.3_Missense_Mutation_p.S138L	p.S138L	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		1	931	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	138					B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	ENST00000317025.8	37	c.413C>T	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.241230	0.39598	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502;ENST00000316985;ENST00000529223	D;D;D;T;T	0.95482	-3.72;-3.71;-3.71;-0.26;0.8	5.03	4.16	0.48862	.	0.422482	0.17399	U	0.175632	D	0.89455	0.6720	N	0.14661	0.345	0.32899	D	0.512977	P;P;B;P	0.43909	0.727;0.821;0.009;0.727	B;B;B;B	0.38616	0.143;0.277;0.008;0.143	D	0.90172	0.4236	10	0.34782	T	0.22	.	13.2932	0.60282	0.0759:0.0:0.9241:0.0	.	138;138;138;138	B7ZL11;Q9BZ95-2;Q9BZ95-3;Q9BZ95	.;.;.;NSD3_HUMAN	L	138;138;75;138;138;138	ENSP00000393284:S138L;ENSP00000313983:S138L;ENSP00000434730:S138L;ENSP00000313410:S138L;ENSP00000435422:S138L	ENSP00000313410:S138L	S	-	2	0	WHSC1L1	38324434	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.023000	0.49666	1.329000	0.45376	0.563000	0.77884	TCG		0.418	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		23	79	0	0	0	1	0	23	79				
PNCK	139728	broad.mit.edu	37	X	152937598	152937598	+	Silent	SNP	G	G	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chrX:152937598G>A	ENST00000370150.1	-	4	436	c.258C>T	c.(256-258)ctC>ctT	p.L86L	PNCK_ENST00000447676.2_Silent_p.L169L|PNCK_ENST00000370145.4_Silent_p.L103L|PNCK_ENST00000370142.1_Silent_p.L86L|PNCK_ENST00000393831.2_Silent_p.L86L|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000340888.3_Silent_p.L86L			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	86	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.L86L(1)|p.L103L(1)|p.L115L(1)		breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGCCAGGTAGAGGTGGGAAG	0.637																																						uc011myu.2																			3	Substitution - coding silent(3)	p.L86L(1)|p.L103L(1)|p.L115L(1)	breast(3)	breast(2)|lung(3)|skin(1)	6						c.(505-507)ctC>ctT		Homo sapiens pregnancy up-regulated non-ubiquitously expressed CaM kinase (PNCK), transcript variant 1, mRNA.							95.0	70.0	79.0					X																	152937598		2203	4300	6503	SO:0001819	synonymous_variant	139728					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chrX:152937598G>A	BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"""pregnancy upregulated non-ubiquitously expressed CaM kinase"", ""pregnancy up-regulated non-ubiquitously expressed CaM kinase"""			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000370150.1:c.258C>T	X.37:g.152937598G>A						PNCK_uc011myt.2_Silent_p.L103L|PNCK_uc004fhz.4_5'UTR|PNCK_uc010nuh.2_Silent_p.L169L|PNCK_uc011myv.2_Silent_p.L113L|PNCK_uc011myw.2_Silent_p.L113L	p.L169L	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN			3	693	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		86			Protein kinase.		B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	Silent	SNP	ENST00000370150.1	37	c.507C>T		.	.	.	.	.	.	.	.	.	.	g	13.13	2.146238	0.37923	.	.	ENSG00000130822	ENST00000418241	T	0.52295	0.67	5.01	-3.36	0.04913	.	.	.	.	.	T	0.49150	0.1540	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53201	-0.8472	6	0.87932	D	0	-15.5739	6.7283	0.23369	0.1524:0.5789:0.1666:0.1021	.	.	.	.	F	93	ENSP00000411267:S93F	ENSP00000391264:S76F	S	-	2	0	PNCK	152590792	0.316000	0.24580	0.856000	0.33681	0.891000	0.51852	-0.357000	0.07651	-0.966000	0.03587	-1.192000	0.01694	TCT		0.637	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000061044.2	NM_198452		6	22	0	0	0	1	0	6	22				
RASD2	23551	broad.mit.edu	37	22	35947855	35947855	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr22:35947855C>T	ENST00000216127.4	+	3	1219	c.577C>T	c.(577-579)Cca>Tca	p.P193S		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	193	Interaction with GNB1, GNB2 and GNB3.				locomotory behavior (GO:0007626)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein sumoylation (GO:0033235)|regulation of cAMP-mediated signaling (GO:0043949)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission, dopaminergic (GO:0001963)	plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						GGCCAAGCTGCCACACGAGAT	0.612																																						uc003anx.3																			0				endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						c.(577-579)Cca>Tca		Homo sapiens RASD family, member 2 (RASD2), mRNA.							115.0	81.0	93.0					22																	35947855		2203	4300	6503	SO:0001583	missense	23551				locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity	g.chr22:35947855C>T	AF279143	CCDS13916.1	22q13.1	2014-05-09			ENSG00000100302	ENSG00000100302			18229	protein-coding gene	gene with protein product	"""tumor endothelial marker 2"", ""Ras homolog enriched in striatum"""	612842				10947988, 10467249, 14724584	Standard	NM_014310		Approved	TEM2, Rhes, MGC:4834	uc003anx.3	Q96D21	OTTHUMG00000150607	ENST00000216127.4:c.577C>T	22.37:g.35947855C>T	ENSP00000216127:p.Pro193Ser					RASD2_uc003any.3_Missense_Mutation_p.P193S	p.P193S	NM_014310	NP_055125	Q96D21	RHES_HUMAN			2	782	+			193			Interaction with GNB1, GNB2 and GNB3.		O95520|Q5THY8	Missense_Mutation	SNP	ENST00000216127.4	37	c.577C>T	CCDS13916.1	.	.	.	.	.	.	.	.	.	.	C	35	5.468382	0.96274	.	.	ENSG00000100302	ENST00000216127	T	0.72051	-0.62	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.82893	0.5136	L	0.60067	1.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82456	-0.0448	10	0.54805	T	0.06	.	19.877	0.96880	0.0:1.0:0.0:0.0	.	193	Q96D21	RHES_HUMAN	S	193	ENSP00000216127:P193S	ENSP00000216127:P193S	P	+	1	0	RASD2	34277801	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.724000	0.84798	2.709000	0.92574	0.561000	0.74099	CCA		0.612	RASD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319063.1	NM_014310		3	34	0	0	0	1	0	3	34				
ZDHHC14	79683	broad.mit.edu	37	6	157803239	157803239	+	Silent	SNP	C	C	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr6:157803239C>T	ENST00000359775.5	+	1	1075	c.186C>T	c.(184-186)ggC>ggT	p.G62G	ZDHHC14_ENST00000414563.2_Silent_p.G62G			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	62					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		GGCAGACGGGCGTCTTCTACC	0.592																																						uc003qqt.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17						c.(184-186)ggC>ggT		Homo sapiens zinc finger, DHHC-type containing 14 (ZDHHC14), transcript variant 1, mRNA.							47.0	52.0	50.0					6																	157803239		2203	4296	6499	SO:0001819	synonymous_variant	79683					integral to membrane	acyltransferase activity|zinc ion binding	g.chr6:157803239C>T	AF542388	CCDS5252.1, CCDS47510.1	6q25.3	2008-05-02			ENSG00000175048	ENSG00000175048		"""Zinc fingers, DHHC-type"""	20341	protein-coding gene	gene with protein product							Standard	NM_024630		Approved	FLJ20984, NEW1CP	uc003qqt.3	Q8IZN3	OTTHUMG00000015896	ENST00000359775.5:c.186C>T	6.37:g.157803239C>T						ZDHHC14_uc003qqs.3_Silent_p.G62G	p.G62G	NM_024630	NP_078906	Q8IZN3	ZDH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)	0	683	+		Breast(66;0.00586)|Ovarian(120;0.123)	62					A6NDB7|Q5JS07|Q5JS08|Q6PHS4|Q8IZN2|Q9H7F1	Silent	SNP	ENST00000359775.5	37	c.186C>T	CCDS5252.1																																																																																				0.592	ZDHHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042841.2	NM_153746		18	36	0	0	0	1	0	18	36				
SUPT20H	55578	broad.mit.edu	37	13	37622068	37622068	+	Silent	SNP	G	G	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr13:37622068G>A	ENST00000350612.6	-	4	265	c.45C>T	c.(43-45)gtC>gtT	p.V15V	SUPT20H_ENST00000360252.4_Silent_p.V15V|SUPT20H_ENST00000464744.1_Silent_p.V15V|SUPT20H_ENST00000470359.2_5'UTR|SUPT20H_ENST00000356185.3_Silent_p.V15V|SUPT20H_ENST00000475892.1_Silent_p.V15V|SUPT20H_ENST00000542180.1_Silent_p.V3V	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	15					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)										CACTTTCAATGACATACTAAA	0.318																																						uc001uwk.3																			0				cervix(1)|endometrium(2)|large_intestine(6)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(43-45)gtC>gtT		Homo sapiens family with sequence similarity 48, member A (FAM48A), transcript variant 2, mRNA.							104.0	107.0	106.0					13																	37622068		2202	4299	6501	SO:0001819	synonymous_variant	55578				autophagy|gastrulation	SAGA-type complex	protein binding	g.chr13:37622068G>A	AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"""p38 interacting protein"", ""transcription factor (p38 interacting protein)"""	613417	"""chromosome 13 open reading frame 19"", ""family with sequence similarity 48, member A"""	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.45C>T	13.37:g.37622068G>A						FAM48A_uc010abt.3_Silent_p.V15V|FAM48A_uc001uwg.3_Silent_p.V15V|FAM48A_uc001uwh.3_Silent_p.V15V|FAM48A_uc001uwi.3_Silent_p.V15V|FAM48A_uc001uwj.3_Silent_p.V15V|FAM48A_uc010tes.1_Silent_p.V3V|FAM48A_uc001uwl.1_Silent_p.V15V	p.V15V	NM_017569	NP_060039	Q8NEM7	FA48A_HUMAN		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)	3	293	-		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)	15					E7ER46|Q71RF3|Q9Y6A6	Silent	SNP	ENST00000350612.6	37	c.45C>T	CCDS31959.1																																																																																				0.318	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354766.1	NM_017569		6	52	0	0	0	1	0	6	52				
KIAA0319L	79932	broad.mit.edu	37	1	35915475	35915475	+	Silent	SNP	C	C	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr1:35915475C>T	ENST00000325722.3	-	15	2580	c.2346G>A	c.(2344-2346)gtG>gtA	p.V782V	KIAA0319L_ENST00000373266.4_Silent_p.V219V|KIAA0319L_ENST00000485551.1_5'UTR	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	782	PKD 5. {ECO:0000255|PROSITE- ProRule:PRU00151}.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CACCAGGTTTCACCTCCACAG	0.493																																						uc001byx.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34						c.(2344-2346)gtG>gtA		Homo sapiens KIAA0319-like (KIAA0319L), mRNA.							142.0	101.0	115.0					1																	35915475		2203	4300	6503	SO:0001819	synonymous_variant	79932					cytoplasmic vesicle part|integral to membrane	protein binding	g.chr1:35915475C>T	AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.2346G>A	1.37:g.35915475C>T						KIAA0319L_uc001byw.3_Silent_p.V224V|KIAA0319L_uc010ohv.1_Silent_p.V424V	p.V782V	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN			14	2604	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	782			PKD 5.		B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Silent	SNP	ENST00000325722.3	37	c.2346G>A	CCDS390.1																																																																																				0.493	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2	NM_024874		11	44	0	0	0	1	0	11	44				
SLC34A2	10568	broad.mit.edu	37	4	25678361	25678361	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr4:25678361C>T	ENST00000382051.3	+	13	2113	c.2063C>T	c.(2062-2064)aCg>aTg	p.T688M	SLC34A2_ENST00000503434.1_Missense_Mutation_p.T687M|SLC34A2_ENST00000504570.1_Missense_Mutation_p.T687M	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	688					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				ACCGAATGCACGGCCTTGTAG	0.567			T	ROS1	NSCLC																																	uc003grr.3				Dom	yes		4	4p15.2	10568	T	"""solute carrier family 34 (sodium phosphate), member 2"""			E	ROS1		NSCLC	SLC34A2/ROS1(14)	0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.(2062-2064)aCg>aTg		Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.							52.0	53.0	53.0					4																	25678361		2203	4300	6503	SO:0001583	missense	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25678361C>T	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.2063C>T	4.37:g.25678361C>T	ENSP00000371483:p.Thr688Met					SLC34A2_uc003grs.3_Missense_Mutation_p.T687M|SLC34A2_uc010iev.3_Missense_Mutation_p.T687M	p.T688M	NM_006424	NP_006415	O95436	NPT2B_HUMAN			12	2144	+		Breast(46;0.0503)	688					A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	ENST00000382051.3	37	c.2063C>T	CCDS3435.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.741588	0.49151	.	.	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	T;T;T	0.23950	1.88;1.88;1.88	5.02	5.02	0.67125	.	0.099991	0.64402	D	0.000002	T	0.28928	0.0718	M	0.69823	2.125	0.09310	N	0.999999	D;D	0.56968	0.978;0.962	B;B	0.39562	0.303;0.159	T	0.43228	-0.9404	10	0.72032	D	0.01	-14.514	14.1694	0.65500	0.0:1.0:0.0:0.0	.	687;688	O95436-2;O95436	.;NPT2B_HUMAN	M	687;688;687	ENSP00000425501:T687M;ENSP00000371483:T688M;ENSP00000423021:T687M	ENSP00000371483:T688M	T	+	2	0	SLC34A2	25287459	0.650000	0.27331	0.053000	0.19242	0.021000	0.10359	2.570000	0.45981	2.492000	0.84095	0.555000	0.69702	ACG		0.567	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		20	33	0	0	0	1	0	20	33				
PPFIA3	8541	broad.mit.edu	37	19	49651468	49651468	+	Silent	SNP	C	C	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr19:49651468C>T	ENST00000334186.4	+	24	3313	c.2964C>T	c.(2962-2964)aaC>aaT	p.N988N	PPFIA3_ENST00000602351.1_Silent_p.N979N	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	988	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		ATCACCTTAACAAGAAGGAGC	0.612																																						uc002pmr.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35						c.(2962-2964)aaC>aaT		Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 (PPFIA3), mRNA.							48.0	47.0	48.0					19																	49651468		2203	4300	6503	SO:0001819	synonymous_variant	8541					cell surface|cytoplasm	protein binding	g.chr19:49651468C>T	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.2964C>T	19.37:g.49651468C>T						PPFIA3_uc010yai.2_Non-coding_Transcript|PPFIA3_uc002pms.3_Silent_p.N847N|PPFIA3_uc002pmt.3_Silent_p.N127N|PPFIA3_uc002pmu.1_Silent_p.N37N	p.N988N	NM_003660	NP_003651	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	23	3296	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	988			SAM 2.		A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Silent	SNP	ENST00000334186.4	37	c.2964C>T	CCDS12758.1																																																																																				0.612	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660		8	30	0	0	0	1	0	8	30				
NKX2-1	7080	broad.mit.edu	37	14	36988488	36988488	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr14:36988488C>G	ENST00000518149.1	-	2	680	c.75G>C	c.(73-75)aaG>aaC	p.K25N	NKX2-1_ENST00000354822.5_Missense_Mutation_p.K55N|RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1-AS1_ENST00000521292.2_RNA|NKX2-1_ENST00000522719.2_Missense_Mutation_p.K25N|NKX2-1_ENST00000498187.2_Missense_Mutation_p.K25N			P43699	NKX21_HUMAN	NK2 homeobox 1	25					anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|brain development (GO:0007420)|cerebral cortex cell migration (GO:0021795)|cerebral cortex GABAergic interneuron differentiation (GO:0021892)|Clara cell differentiation (GO:0060486)|developmental induction (GO:0031128)|endoderm development (GO:0007492)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|forebrain development (GO:0030900)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain neuron fate commitment (GO:0021877)|globus pallidus development (GO:0021759)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|locomotory behavior (GO:0007626)|lung development (GO:0030324)|lung saccule development (GO:0060430)|menarche (GO:0042696)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron migration (GO:0001764)|oligodendrocyte differentiation (GO:0048709)|phospholipid metabolic process (GO:0006644)|pituitary gland development (GO:0021983)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|rhythmic process (GO:0048511)|thyroid gland development (GO:0030878)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		TGCCCACTTTCTTGTAGCTTT	0.652			A		NSCLC																																	uc001wtu.3				Dom	yes		14	14q13	7080	A	NK2 homeobox 1			E			NSCLC		0				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7						c.(163-165)aaG>aaC		Homo sapiens NK2 homeobox 1 (NKX2-1), transcript variant 1, mRNA.							12.0	14.0	14.0					14																	36988488		2182	4256	6438	SO:0001583	missense	7080				epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding	g.chr14:36988488C>G		CCDS9659.1, CCDS41945.1	14q13.3	2012-03-09	2007-07-26	2007-07-26	ENSG00000136352	ENSG00000136352		"""Homeoboxes / ANTP class : NKL subclass"""	11825	protein-coding gene	gene with protein product		600635	"""benign chorea"", ""thyroid transcription factor 1"""	NKX2A, BCH, TITF1		1976511	Standard	NM_001079668		Approved	TTF-1, TTF1	uc001wtu.3	P43699	OTTHUMG00000140225	ENST00000518149.1:c.75G>C	14.37:g.36988488C>G	ENSP00000428341:p.Lys25Asn					SFTA3_uc001wts.3_Intron|NKX2-1_uc001wtt.3_Missense_Mutation_p.K25N|NKX2-1_uc001wtv.3_Missense_Mutation_p.K25N|BX161496_uc001wtw.1_5'Flank	p.K55N	NM_001079668	NP_001073136	P43699	NKX21_HUMAN	Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)	1	261	-	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		25					D3DSA3|O14954|O14955|Q7KZF6|Q9BRJ8	Missense_Mutation	SNP	ENST00000518149.1	37	c.165G>C	CCDS9659.1	.	.	.	.	.	.	.	.	.	.	C	20.0	3.929769	0.73327	.	.	ENSG00000136352	ENST00000354822;ENST00000498187;ENST00000518149;ENST00000522719	T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63	5.12	5.12	0.69794	.	0.167890	0.51477	D	0.000099	T	0.80374	0.4611	M	0.83692	2.655	0.80722	D	1	D;P	0.58268	0.982;0.917	P;B	0.50708	0.648;0.446	T	0.82458	-0.0447	10	0.44086	T	0.13	.	18.5237	0.90963	0.0:1.0:0.0:0.0	.	55;25	P43699-3;P43699	.;NKX21_HUMAN	N	55;25;25;25	ENSP00000346879:K55N;ENSP00000429607:K25N;ENSP00000428341:K25N;ENSP00000429519:K25N	ENSP00000346879:K55N	K	-	3	2	NKX2-1	36058239	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.410000	0.66381	2.381000	0.81170	0.462000	0.41574	AAG		0.652	NKX2-1-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376225.2	NM_003317		3	20	0	0	0	1	0	3	20				
OR2C1	4993	broad.mit.edu	37	16	3405956	3405956	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr16:3405956G>C	ENST00000304936.2	+	1	68	c.16G>C	c.(16-18)Gat>Cat	p.D6H		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	6					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)	cell cortex (GO:0005938)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CGGGGTGAATGATAGCTCCTT	0.463																																						uc002cuw.1																			0				kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(16-18)Gat>Cat		Homo sapiens olfactory receptor, family 2, subfamily C, member 1 (OR2C1), mRNA.							77.0	72.0	74.0					16																	3405956		2197	4300	6497	SO:0001583	missense	4993				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr16:3405956G>C	AF098664	CCDS10502.1	16p13.3	2012-08-09			ENSG00000168158	ENSG00000168158		"""GPCR / Class A : Olfactory receptors"""	8242	protein-coding gene	gene with protein product				OR2C2P		9847080	Standard	NM_012368		Approved	OLFmf3	uc002cuw.1	O95371	OTTHUMG00000090505	ENST00000304936.2:c.16G>C	16.37:g.3405956G>C	ENSP00000307726:p.Asp6His						p.D6H	NM_012368	NP_036500	O95371	OR2C1_HUMAN			0	68	+			6					A0AVA4|Q6IF34|Q6IF55	Missense_Mutation	SNP	ENST00000304936.2	37	c.16G>C	CCDS10502.1	.	.	.	.	.	.	.	.	.	.	g	7.834	0.720557	0.15372	.	.	ENSG00000168158	ENST00000304936	T	0.00578	6.44	4.35	-0.49	0.12049	.	2.273470	0.01900	N	0.039121	T	0.00384	0.0012	N	0.02247	-0.625	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46020	-0.9221	10	0.41790	T	0.15	.	8.0946	0.30820	0.6361:0.0:0.3639:0.0	.	6	O95371	OR2C1_HUMAN	H	6	ENSP00000307726:D6H	ENSP00000307726:D6H	D	+	1	0	OR2C1	3345957	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.131000	0.01311	-0.311000	0.08754	-0.494000	0.04653	GAT		0.463	OR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206993.3			9	42	0	0	0	1	0	9	42				
SPC25	57405	broad.mit.edu	37	2	169732647	169732647	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr2:169732647T>C	ENST00000282074.2	-	5	527	c.386A>G	c.(385-387)aAa>aGa	p.K129R	SPC25_ENST00000472216.2_5'Flank	NM_020675.3	NP_065726.1	Q9HBM1	SPC25_HUMAN	SPC25, NDC80 kinetochore complex component	129	Interaction with the N-terminus of SPBC24.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)	condensed chromosome kinetochore (GO:0000777)|cytosol (GO:0005829)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	9						CTGCAGCCTTTTCAACCTCTC	0.289																																						uc002uel.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	9						c.(385-387)aAa>aGa		Homo sapiens SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae) (SPC25), mRNA.							24.0	27.0	26.0					2																	169732647		2196	4293	6489	SO:0001583	missense	57405				cell division|chromosome segregation|mitotic prometaphase|mitotic spindle organization	Ndc80 complex|condensed chromosome kinetochore|cytosol|nucleus	protein binding	g.chr2:169732647T>C	AF225416	CCDS2229.1	2q31.1	2013-06-05	2013-06-05	2007-03-02	ENSG00000152253	ENSG00000152253			24031	protein-coding gene	gene with protein product		609395	"""spindle pole body component 25 homolog (S. cerevisiae)"", ""SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae)"""	SPBC25		12477932	Standard	NM_020675		Approved	MGC22228, AD024	uc002uel.3	Q9HBM1	OTTHUMG00000132181	ENST00000282074.2:c.386A>G	2.37:g.169732647T>C	ENSP00000282074:p.Lys129Arg						p.K129R	NM_020675	NP_065726	Q9HBM1	SPC25_HUMAN			4	517	-			129			Interaction with the N-terminus of SPBC24.		A8K4X8|D3DPC0	Missense_Mutation	SNP	ENST00000282074.2	37	c.386A>G	CCDS2229.1	.	.	.	.	.	.	.	.	.	.	T	17.24	3.339908	0.60963	.	.	ENSG00000152253	ENST00000282074	D	0.86366	-2.11	6.17	6.17	0.99709	.	0.222920	0.52532	D	0.000062	D	0.84506	0.5487	L	0.60455	1.87	0.47065	D	0.999305	B	0.23854	0.092	B	0.27500	0.08	T	0.79403	-0.1818	10	0.14252	T	0.57	-17.3381	14.3455	0.66658	0.0:0.0:0.0:1.0	.	129	Q9HBM1	SPC25_HUMAN	R	129	ENSP00000282074:K129R	ENSP00000282074:K129R	K	-	2	0	SPC25	169440893	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	4.942000	0.63547	2.371000	0.80710	0.533000	0.62120	AAA		0.289	SPC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255233.2	NM_020675		2	17	0	0	0	1	0	2	17				
PHF23	79142	broad.mit.edu	37	17	7139847	7139847	+	Silent	SNP	G	G	C			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr17:7139847G>C	ENST00000320316.3	-	4	625	c.399C>G	c.(397-399)ctC>ctG	p.L133L	PHF23_ENST00000571362.1_Silent_p.L66L|PHF23_ENST00000454255.2_Silent_p.L129L|PHF23_ENST00000576955.1_Silent_p.L3L|PHF23_ENST00000570753.1_5'Flank|DVL2_ENST00000575458.1_5'Flank|DVL2_ENST00000005340.5_5'Flank	NM_001284518.1|NM_024297.2	NP_001271447.1|NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	133							zinc ion binding (GO:0008270)			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						GAGAGTCCTTGAGCTTCATCT	0.602																																						uc002gfa.3																			0				breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						c.(397-399)ctC>ctG		Homo sapiens PHD finger protein 23 (PHF23), mRNA.							81.0	90.0	87.0					17																	7139847		1972	4152	6124	SO:0001819	synonymous_variant	79142						zinc ion binding	g.chr17:7139847G>C	AK122791	CCDS42250.1, CCDS67143.1, CCDS67144.1	17p13.1	2014-08-13			ENSG00000040633	ENSG00000040633		"""Zinc fingers, PHD-type"""	28428	protein-coding gene	gene with protein product		612910					Standard	NM_024297		Approved	MGC2941, FLJ16355	uc002gfa.3	Q9BUL5	OTTHUMG00000177972	ENST00000320316.3:c.399C>G	17.37:g.7139847G>C						DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.2_Silent_p.L66L|PHF23_uc010cma.3_Silent_p.L3L	p.L133L	NM_024297	NP_077273	Q9BUL5	PHF23_HUMAN			3	626	-			133					A1DZ74|B3KVH8|B4DLK6|D3DTN4|Q8IZK0|Q96HG7|Q9H5X0	Silent	SNP	ENST00000320316.3	37	c.399C>G	CCDS42250.1																																																																																				0.602	PHF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440047.1	NM_024297		11	65	0	0	0	1	0	11	65				
OXER1	165140	broad.mit.edu	37	2	42991172	42991172	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr2:42991172G>A	ENST00000378661.2	-	1	229	c.148C>T	c.(148-150)Ccc>Tcc	p.P50S		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	50	Ser-rich.				G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cAMP biosynthetic process (GO:0030817)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050648)|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050647)|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050646)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						gagagagagggagatggagag	0.602																																						uc002rss.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						c.(148-150)Ccc>Tcc		Homo sapiens oxoeicosanoid (OXE) receptor 1 (OXER1), mRNA.							69.0	58.0	61.0					2																	42991172		2203	4300	6503	SO:0001583	missense	165140				regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity	g.chr2:42991172G>A	AB083055	CCDS1810.1	2p22.1	2012-08-10			ENSG00000162881	ENSG00000162881		"""GPCR / Class A : Leukotriene receptors"""	24884	protein-coding gene	gene with protein product	"""5-oxo-ETE acid G-protein-coupled receptor 1"""					12065583, 15001665	Standard	NM_148962		Approved	GPCR, TG1019, GPR170	uc002rss.3	Q8TDS5	OTTHUMG00000128643	ENST00000378661.2:c.148C>T	2.37:g.42991172G>A	ENSP00000367930:p.Pro50Ser						p.P50S	NM_148962	NP_683765	Q8TDS5	OXER1_HUMAN			0	230	-			50			Ser-rich.		Q86WP7|Q8NGW4	Missense_Mutation	SNP	ENST00000378661.2	37	c.148C>T	CCDS1810.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.164731	0.38217	.	.	ENSG00000162881	ENST00000378661	T	0.60171	0.21	3.09	2.2	0.27929	.	.	.	.	.	T	0.30792	0.0776	N	0.08118	0	0.09310	N	1	P	0.42757	0.789	B	0.40329	0.326	T	0.11179	-1.0598	9	0.08837	T	0.75	.	6.4874	0.22097	0.1488:0.0:0.8512:0.0	.	50	Q8TDS5	OXER1_HUMAN	S	50	ENSP00000367930:P50S	ENSP00000367930:P50S	P	-	1	0	OXER1	42844676	0.102000	0.21896	0.001000	0.08648	0.016000	0.09150	1.957000	0.40392	0.580000	0.29522	0.455000	0.32223	CCC		0.602	OXER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250514.1	NM_148962		6	39	0	0	0	1	0	6	39				
IGSF22	283284	broad.mit.edu	37	11	18741432	18741432	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr11:18741432G>A	ENST00000513874.1	-	7	666	c.527C>T	c.(526-528)cCt>cTt	p.P176L	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	176	Lys-rich.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CTTGGGAGCAGGGGGTGCCCT	0.502																																						uc009yht.2																			0				NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						c.(526-528)cCt>cTt		Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA.							133.0	129.0	130.0					11																	18741432		1883	4116	5999	SO:0001583	missense	283284							g.chr11:18741432G>A	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.527C>T	11.37:g.18741432G>A	ENSP00000421191:p.Pro176Leu					IGSF22_uc001mpa.2_Non-coding_Transcript	p.P176L	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN			6	717	-			176			Lys-rich.		A6NNA0|D6RGV7	Missense_Mutation	SNP	ENST00000513874.1	37	c.527C>T	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	G	17.48	3.399995	0.62177	.	.	ENSG00000179057	ENST00000513874	T	0.52983	0.64	5.02	2.08	0.27032	.	0.000000	0.36628	U	0.002498	T	0.39410	0.1077	L	0.54323	1.7	0.38547	D	0.949375	B	0.20780	0.048	B	0.22386	0.039	T	0.20638	-1.0269	10	0.38643	T	0.18	.	7.9838	0.30198	0.2543:0.0:0.7457:0.0	.	176	D6RGV7	.	L	176	ENSP00000421191:P176L	ENSP00000322422:P176L	P	-	2	0	IGSF22	18698008	0.971000	0.33674	0.234000	0.24042	0.964000	0.63967	2.102000	0.41796	0.148000	0.19059	0.557000	0.71058	CCT		0.502	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		7	117	0	0	0	1	0	7	117				
ABHD2	11057	broad.mit.edu	37	15	89659640	89659640	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr15:89659640G>A	ENST00000352732.5	+	3	602	c.82G>A	c.(82-84)Gtg>Atg	p.V28M	ABHD2_ENST00000565973.1_Missense_Mutation_p.V28M|ABHD2_ENST00000355100.3_Missense_Mutation_p.V28M	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	28					negative regulation of cell migration (GO:0030336)|response to wounding (GO:0009611)	integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					TGTGCTGTACGTGATCGTCCG	0.577																																					Colon(11;252 417 24570 33239 41878)	uc002bnj.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23						c.(82-84)Gtg>Atg		Homo sapiens abhydrolase domain containing 2 (ABHD2), transcript variant 1, mRNA.							116.0	99.0	105.0					15																	89659640		2200	4299	6499	SO:0001583	missense	11057					integral to membrane	carboxylesterase activity	g.chr15:89659640G>A	X12433	CCDS10348.1	15q26.1	2006-10-06			ENSG00000140526	ENSG00000140526		"""Abhydrolase domain containing"""	18717	protein-coding gene	gene with protein product		612196					Standard	NM_152924		Approved	LABH2	uc002bnk.2	P08910	OTTHUMG00000148684	ENST00000352732.5:c.82G>A	15.37:g.89659640G>A	ENSP00000268129:p.Val28Met					ABHD2_uc010ups.1_Non-coding_Transcript|ABHD2_uc002bnk.2_Missense_Mutation_p.V28M	p.V28M	NM_007011	NP_690888	P08910	ABHD2_HUMAN			6	1000	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		28					Q53G48|Q53GU0|Q5FVD9|Q8TC79	Missense_Mutation	SNP	ENST00000352732.5	37	c.82G>A	CCDS10348.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.892064	0.72524	.	.	ENSG00000140526	ENST00000352732;ENST00000355100	T;T	0.15603	2.41;2.41	5.91	5.91	0.95273	.	0.136993	0.51477	D	0.000081	T	0.18383	0.0441	L	0.60455	1.87	0.58432	D	0.999997	P	0.51240	0.943	B	0.40982	0.345	T	0.00824	-1.1551	10	0.49607	T	0.09	-1.7991	10.6141	0.45441	0.1413:0.0:0.8587:0.0	.	28	P08910	ABHD2_HUMAN	M	28	ENSP00000268129:V28M;ENSP00000347217:V28M	ENSP00000268129:V28M	V	+	1	0	ABHD2	87460644	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.492000	0.53259	2.793000	0.96121	0.655000	0.94253	GTG		0.577	ABHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309074.2			34	59	0	0	0	1	0	34	59				
PHF23	79142	broad.mit.edu	37	17	7139630	7139630	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr17:7139630G>C	ENST00000320316.3	-	4	842	c.616C>G	c.(616-618)Cct>Gct	p.P206A	PHF23_ENST00000571362.1_Missense_Mutation_p.P139A|PHF23_ENST00000454255.2_Missense_Mutation_p.P202A|PHF23_ENST00000576955.1_Missense_Mutation_p.P76A|PHF23_ENST00000570753.1_5'Flank|DVL2_ENST00000575458.1_5'Flank|DVL2_ENST00000005340.5_5'Flank	NM_001284518.1|NM_024297.2	NP_001271447.1|NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	206							zinc ion binding (GO:0008270)			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						CCATCCCCAGGAGTTGGCCGA	0.582																																						uc002gfa.3																			0				breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						c.(616-618)Cct>Gct		Homo sapiens PHD finger protein 23 (PHF23), mRNA.							81.0	90.0	87.0					17																	7139630		1861	4089	5950	SO:0001583	missense	79142						zinc ion binding	g.chr17:7139630G>C	AK122791	CCDS42250.1, CCDS67143.1, CCDS67144.1	17p13.1	2014-08-13			ENSG00000040633	ENSG00000040633		"""Zinc fingers, PHD-type"""	28428	protein-coding gene	gene with protein product		612910					Standard	NM_024297		Approved	MGC2941, FLJ16355	uc002gfa.3	Q9BUL5	OTTHUMG00000177972	ENST00000320316.3:c.616C>G	17.37:g.7139630G>C	ENSP00000322579:p.Pro206Ala					DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.2_Missense_Mutation_p.P139A|PHF23_uc010cma.3_Missense_Mutation_p.P76A	p.P206A	NM_024297	NP_077273	Q9BUL5	PHF23_HUMAN			3	843	-			206					A1DZ74|B3KVH8|B4DLK6|D3DTN4|Q8IZK0|Q96HG7|Q9H5X0	Missense_Mutation	SNP	ENST00000320316.3	37	c.616C>G	CCDS42250.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.735268	0.48939	.	.	ENSG00000040633	ENST00000320316;ENST00000454255	T;T	0.34859	1.35;1.34	4.92	2.93	0.34026	.	0.137208	0.49916	D	0.000133	T	0.34542	0.0901	N	0.14661	0.345	0.32968	D	0.521921	D;B	0.63880	0.993;0.068	D;B	0.70935	0.971;0.012	T	0.42531	-0.9446	10	0.42905	T	0.14	-7.2061	5.1001	0.14754	0.1854:0.1713:0.6432:0.0	.	139;206	B4DLK6;Q9BUL5	.;PHF23_HUMAN	A	206;202	ENSP00000322579:P206A;ENSP00000414607:P202A	ENSP00000322579:P206A	P	-	1	0	PHF23	7080354	0.998000	0.40836	0.991000	0.47740	0.991000	0.79684	2.676000	0.46883	0.660000	0.30964	0.563000	0.77884	CCT		0.582	PHF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440047.1	NM_024297		17	76	0	0	0	1	0	17	76				
ST8SIA1	6489	broad.mit.edu	37	12	22487068	22487068	+	Silent	SNP	A	A	G			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr12:22487068A>G	ENST00000396037.4	-	1	580	c.99T>C	c.(97-99)agT>agC	p.S33S	ST8SIA1_ENST00000381424.3_Silent_p.S33S|ST8SIA1_ENST00000536558.1_Intron|ST8SIA1_ENST00000404299.3_Silent_p.S33S|ST8SIA1_ENST00000539510.1_5'UTR	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	33					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						CACAGAGGGCACTGGCTCCCA	0.667																																						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.(97-99)agT>agC		Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 (ST8SIA1), mRNA.							94.0	91.0	92.0					12																	22487068		2203	4300	6503	SO:0001819	synonymous_variant	6489				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr12:22487068A>G	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.99T>C	12.37:g.22487068A>G						ST8SIA1_uc009zix.3_5'UTR	p.S33S	NM_003034	NP_003025	Q92185	SIA8A_HUMAN			0	581	-			33					A8K4H6|Q17RL0|Q6PZN5|Q93064	Silent	SNP	ENST00000396037.4	37	c.99T>C	CCDS8697.1																																																																																				0.667	ST8SIA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402245.2	NM_003034		29	72	0	0	0	1	0	29	72				
MYF5	4617	broad.mit.edu	37	12	81112653	81112653	+	Silent	SNP	T	T	C			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr12:81112653T>C	ENST00000228644.3	+	3	743	c.591T>C	c.(589-591)gaT>gaC	p.D197D		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	197					camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						ATGCCACAGATAAAAACTCCT	0.423																																						uc001szg.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						c.(589-591)gaT>gaC		Homo sapiens myogenic factor 5 (MYF5), mRNA.							90.0	94.0	93.0					12																	81112653		2203	4300	6503	SO:0001819	synonymous_variant	4617				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr12:81112653T>C		CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"""Basic helix-loop-helix proteins"""	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.591T>C	12.37:g.81112653T>C							p.D197D	NM_005593	NP_005584	P13349	MYF5_HUMAN			2	726	+			197					Q6ISR9	Silent	SNP	ENST00000228644.3	37	c.591T>C	CCDS9020.1																																																																																				0.423	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593		34	60	0	0	0	1	0	34	60				
TDGF1P3	6998	broad.mit.edu	37	X	109764445	109764445	+	RNA	SNP	G	G	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chrX:109764445G>A	ENST00000602699.1	+	0	906					NR_002718.2		P51864	TDGF3_HUMAN	teratocarcinoma-derived growth factor 1 pseudogene 3						signal transduction (GO:0007165)	cell outer membrane (GO:0009279)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)										ATTAGTTGCCGGGCTGGGCCA	0.522																																						uc004eos.1																			0													Homo sapiens teratocarcinoma-derived growth factor 1 pseudogene 3 (TDGF1P3), non-coding RNA.																																						6998							g.chrX:109764445G>A	M96956		Xq23	2011-06-24	2011-06-24	2011-06-24	ENSG00000225366	ENSG00000225366			11703	pseudogene	pseudogene			"""teratocarcinoma-derived growth factor 3, pseudogene"""	TDGF3		1882841	Standard	NR_002718		Approved	TDGF2, CR-3, CRIPTO-3, CRIPTO3	uc004eos.1	P51864	OTTHUMG00000022195		X.37:g.109764445G>A														0		+									RNA	SNP	ENST00000602699.1	37	c.906G>A																																																																																					0.522	TDGF1P3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467333.2	NR_002718		11	31	0	0	0	1	0	11	31				
MDN1	23195	broad.mit.edu	37	6	90400467	90400467	+	Silent	SNP	C	C	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr6:90400467C>T	ENST00000369393.3	-	64	10789	c.10674G>A	c.(10672-10674)agG>agA	p.R3558R	MDN1_ENST00000428876.1_Silent_p.R3558R			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3558					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCCTAGAGTTCCTGCTCCTGT	0.517																																						uc003pnn.1																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(10672-10674)agG>agA		Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.							131.0	106.0	114.0					6																	90400467		2203	4300	6503	SO:0001819	synonymous_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90400467C>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.10674G>A	6.37:g.90400467C>T							p.R3558R	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	63	10790	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	3558					O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.10674G>A	CCDS5024.1																																																																																				0.517	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			6	42	0	0	0	1	0	6	42				
SWSAP1	126074	broad.mit.edu	37	19	11486194	11486194	+	Silent	SNP	C	C	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr19:11486194C>A	ENST00000312423.2	+	2	251	c.192C>A	c.(190-192)atC>atA	p.I64I	CTD-2342J14.6_ENST00000590399.1_RNA	NM_175871.3	NP_787067.2	Q6NVH7	SWAP1_HUMAN	SWIM-type zinc finger 7 associated protein 1	64					ATP catabolic process (GO:0006200)|double-strand break repair via homologous recombination (GO:0000724)|protein stabilization (GO:0050821)	nucleus (GO:0005634)|Shu complex (GO:0097196)	ATPase activity (GO:0016887)|single-stranded DNA binding (GO:0003697)										TCTAGAAGATCCGCTTCCAGT	0.587																																						uc002mrg.1																			0											c.(190-192)atC>atA		Homo sapiens SWIM-type zinc finger 7 associated protein 1 (SWSAP1), mRNA.							115.0	135.0	128.0					19																	11486194		2202	4298	6500	SO:0001819	synonymous_variant	126074							g.chr19:11486194C>A	AK092438	CCDS12259.1	19p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000173928	ENSG00000173928			26638	protein-coding gene	gene with protein product	"""zinc finger, SWIM-type containing 7 associated protein 1"", ""SWS1-associated protein 1"""	614536	"""chromosome 19 open reading frame 39"""	C19orf39		21965664	Standard	NM_175871		Approved	FLJ35119, ZSWIM7AP1, SWS1AP1	uc002mrg.1	Q6NVH7		ENST00000312423.2:c.192C>A	19.37:g.11486194C>A							p.I64I	NM_175871	NP_787067	Q6NVH7	CS039_HUMAN			1	229	+			64					Q8NAM1	Silent	SNP	ENST00000312423.2	37	c.192C>A	CCDS12259.1																																																																																				0.587	SWSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458789.1	NM_175871		80	134	0	0	0	1	0	80	134				
OXER1	165140	broad.mit.edu	37	2	42991137	42991137	+	Silent	SNP	G	G	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr2:42991137G>A	ENST00000378661.2	-	1	264	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	61	Ser-rich.				G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cAMP biosynthetic process (GO:0030817)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050648)|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050647)|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050646)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						gtgagggagagaaggagggag	0.612																																						uc002rss.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						c.(181-183)ttC>ttT		Homo sapiens oxoeicosanoid (OXE) receptor 1 (OXER1), mRNA.							42.0	38.0	40.0					2																	42991137		2203	4300	6503	SO:0001819	synonymous_variant	165140				regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity	g.chr2:42991137G>A	AB083055	CCDS1810.1	2p22.1	2012-08-10			ENSG00000162881	ENSG00000162881		"""GPCR / Class A : Leukotriene receptors"""	24884	protein-coding gene	gene with protein product	"""5-oxo-ETE acid G-protein-coupled receptor 1"""					12065583, 15001665	Standard	NM_148962		Approved	GPCR, TG1019, GPR170	uc002rss.3	Q8TDS5	OTTHUMG00000128643	ENST00000378661.2:c.183C>T	2.37:g.42991137G>A							p.F61F	NM_148962	NP_683765	Q8TDS5	OXER1_HUMAN			0	265	-			61			Ser-rich.		Q86WP7|Q8NGW4	Silent	SNP	ENST00000378661.2	37	c.183C>T	CCDS1810.1																																																																																				0.612	OXER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250514.1	NM_148962		8	20	0	0	0	1	0	8	20				
ALOX12B	242	broad.mit.edu	37	17	7977036	7977036	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr17:7977036C>T	ENST00000319144.4	-	13	1954	c.1694G>A	c.(1693-1695)cGa>cAa	p.R565Q	ALOX12B_ENST00000577351.1_Intron	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	565	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						AGTGACATATCGGATCAGCTC	0.622										Multiple Myeloma(8;0.094)	OREG0024152	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002gjy.1																			0		p.R565R(1)		endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						c.(1693-1695)cGa>cAa		Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA.							92.0	75.0	81.0					17																	7977036		2203	4300	6503	SO:0001583	missense	242				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7977036C>T	AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"""Arachidonate lipoxygenases"""	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.1694G>A	17.37:g.7977036C>T	ENSP00000315167:p.Arg565Gln	Multiple Myeloma(8;0.094)	OREG0024152	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	645		p.R565Q	NM_001139	NP_001130	O75342	LX12B_HUMAN			12	1955	-			565			Lipoxygenase.			Missense_Mutation	SNP	ENST00000319144.4	37	c.1694G>A	CCDS11129.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.941563	0.34283	.	.	ENSG00000179477	ENST00000319144	D	0.89485	-2.52	5.08	3.85	0.44370	Lipoxygenase, C-terminal (3);	0.273257	0.32868	N	0.005552	T	0.76608	0.4011	N	0.17800	0.525	0.20074	N	0.999937	B	0.26809	0.16	B	0.19946	0.027	T	0.61212	-0.7108	10	0.21540	T	0.41	-1.2885	6.3715	0.21483	0.0:0.6434:0.0:0.3566	.	565	O75342	LX12B_HUMAN	Q	565	ENSP00000315167:R565Q	ENSP00000315167:R565Q	R	-	2	0	ALOX12B	7917761	0.700000	0.27796	0.998000	0.56505	0.946000	0.59487	1.081000	0.30791	0.803000	0.34113	0.650000	0.86243	CGA		0.622	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3			3	20	0	0	0	1	0	3	20				
ZMYND8	23613	broad.mit.edu	37	20	45947814	45947814	+	Intron	SNP	A	A	G			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr20:45947814A>G	ENST00000311275.7	-	3	279				ZMYND8_ENST00000262975.4_Intron|ZMYND8_ENST00000352431.2_Intron|ZMYND8_ENST00000461685.1_Intron|ZMYND8_ENST00000396281.4_Intron|AL031666.2_ENST00000599904.1_Silent_p.G150G|ZMYND8_ENST00000536340.1_Intron|ZMYND8_ENST00000372023.3_Intron|ZMYND8_ENST00000471951.2_Intron|ZMYND8_ENST00000355972.4_Intron|ZMYND8_ENST00000540497.1_Intron|ZMYND8_ENST00000360911.3_Intron|ZMYND8_ENST00000468376.2_5'Flank|ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000446994.2_Intron	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TCCCAGGGGGAGGAGGAAGAA	0.592																																						uc010zyb.2																			0											c.(448-450)ggA>ggG		Homo sapiens uncharacterized LOC100131496 (LOC100131496), non-coding RNA.							16.0	14.0	15.0					20																	45947814		876	1991	2867	SO:0001627	intron_variant	100131496							g.chr20:45947814A>G	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.26-8866T>C	20.37:g.45947814A>G						ZMYND8_uc010ghr.1_Intron|ZMYND8_uc002xst.1_Intron|ZMYND8_uc002xsu.1_Intron|ZMYND8_uc002xsv.1_Intron|ZMYND8_uc002xsw.1_Intron|ZMYND8_uc002xsx.1_Intron|ZMYND8_uc002xsy.1_Intron|ZMYND8_uc002xsz.1_Intron|ZMYND8_uc002xta.1_Intron|ZMYND8_uc010zxy.1_Intron|ZMYND8_uc002xtb.1_Intron|ZMYND8_uc002xss.2_Intron|ZMYND8_uc010zxz.1_Intron|ZMYND8_uc002xtc.1_Intron|ZMYND8_uc002xtd.1_Intron|ZMYND8_uc002xte.1_Intron|ZMYND8_uc010zya.1_Intron|ZMYND8_uc002xtf.1_Intron|ZMYND8_uc002xtg.3_5'Flank|ZMYND8_uc010ghs.2_Intron|ZMYND8_uc002xth.3_Intron	p.G150G							0	569	+								B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Silent	SNP	ENST00000311275.7	37	c.450A>G																																																																																					0.592	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		2	7	0	0	0	1	0	2	7				
TAF7L	54457	broad.mit.edu	37	X	100547854	100547854	+	Silent	SNP	G	G	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chrX:100547854G>A	ENST00000372907.3	-	1	191	c.180C>T	c.(178-180)gaC>gaT	p.D60D	TAF7L_ENST00000356784.1_5'Flank|TAF7L_ENST00000372905.2_De_novo_Start_OutOfFrame	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	60					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						GAGTGTCCTCGTCGGCAGGAA	0.562																																					Ovarian(104;431 1530 3210 15406 18594)	uc004ehb.3																			0		p.A59A(1)		NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(178-180)gaC>gaT		Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA.							119.0	116.0	117.0					X																	100547854		2203	4300	6503	SO:0001819	synonymous_variant	54457				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding	g.chrX:100547854G>A	AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"""cancer/testis antigen 40"""	300314	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"""	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.180C>T	X.37:g.100547854G>A						TAF7L_uc004ehc.2_5'Flank	p.D60D	NM_024885	NP_001161946	Q5H9L4	TAF7L_HUMAN			0	206	-			60					Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Silent	SNP	ENST00000372907.3	37	c.180C>T	CCDS35347.1																																																																																				0.562	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2			65	27	0	0	0	1	0	65	27				
FA2H	79152	broad.mit.edu	37	16	74750252	74750252	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr16:74750252C>G	ENST00000219368.3	-	6	1101	c.1032G>C	c.(1030-1032)caG>caC	p.Q344H	FA2H_ENST00000544337.1_Missense_Mutation_p.Q131H	NM_024306.4	NP_077282.3	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	344					cell death (GO:0008219)|central nervous system myelin maintenance (GO:0032286)|fatty acid biosynthetic process (GO:0006633)|lipid modification (GO:0030258)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of cell proliferation (GO:0042127)|regulation of hair cycle (GO:0042634)|sebaceous gland cell differentiation (GO:0001949)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	fatty acid alpha-hydroxylase activity (GO:0080132)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						CACCTGACTTCTGATGTGCAA	0.542																																						uc002fde.2																			0				endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						c.(1030-1032)caG>caC		Homo sapiens fatty acid 2-hydroxylase (FA2H), mRNA.							100.0	85.0	90.0					16																	74750252		2198	4300	6498	SO:0001583	missense	79152				cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity	g.chr16:74750252C>G	BC002679	CCDS10911.1	16q23	2013-03-04	2003-10-29	2003-10-31	ENSG00000103089	ENSG00000103089		"""Fatty acid hydroxylase domain containing"""	21197	protein-coding gene	gene with protein product	"""fatty acid hydroxylase"""	611026	"""fatty acid hydroxylase domain containing 1"", ""spastic paraplegia 35 (autosomal recessive)"""	FAXDC1, SPG35		20104589	Standard	NM_024306		Approved	FAAH, FLJ25287	uc002fde.2	Q7L5A8	OTTHUMG00000137603	ENST00000219368.3:c.1032G>C	16.37:g.74750252C>G	ENSP00000219368:p.Gln344His					FA2H_uc002fdd.2_Missense_Mutation_p.Q117H|FA2H_uc010vmy.2_Non-coding_Transcript	p.Q344H	NM_024306	NP_077282	Q7L5A8	FA2H_HUMAN			5	1108	-			344					B7Z8T6|O75213|Q96DK1|Q9H1A5	Missense_Mutation	SNP	ENST00000219368.3	37	c.1032G>C	CCDS10911.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.074800	0.36566	.	.	ENSG00000103089	ENST00000219368;ENST00000544337	D;D	0.86097	-2.07;-2.07	5.4	1.98	0.26296	.	0.050919	0.85682	N	0.000000	T	0.72590	0.3479	L	0.43152	1.355	0.45648	D	0.998578	B;B	0.30741	0.293;0.071	B;B	0.28991	0.097;0.038	T	0.58983	-0.7539	10	0.13853	T	0.58	-9.8988	3.5304	0.07774	0.1871:0.4844:0.0:0.3285	.	344;252	Q7L5A8;B2RDE6	FA2H_HUMAN;.	H	344;131	ENSP00000219368:Q344H;ENSP00000442334:Q131H	ENSP00000219368:Q344H	Q	-	3	2	FA2H	73307753	1.000000	0.71417	0.996000	0.52242	0.934000	0.57294	1.113000	0.31184	0.649000	0.30751	0.655000	0.94253	CAG		0.542	FA2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269015.2	NM_024306		7	42	0	0	0	1	0	7	42				
ZSCAN5B	342933	broad.mit.edu	37	19	56701879	56701879	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr19:56701879C>T	ENST00000586855.2	-	5	1118	c.805G>A	c.(805-807)Gac>Aac	p.D269N	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.D269N			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	269					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GAAGGTGTGTCAGCATCCACA	0.502																																						uc010ygh.2																			0				breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(805-807)Gac>Aac		Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.							124.0	121.0	122.0					19																	56701879		2203	4300	6503	SO:0001583	missense	342933				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56701879C>T		CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"""-"", ""Zinc fingers, C2H2-type"""	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.805G>A	19.37:g.56701879C>T	ENSP00000466072:p.Asp269Asn						p.D269N	NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN			3	805	-			269						Missense_Mutation	SNP	ENST00000586855.2	37	c.805G>A	CCDS46203.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.347857	0.41599	.	.	ENSG00000197213	ENST00000358992	T	0.05717	3.4	1.86	1.86	0.25419	.	.	.	.	.	T	0.17959	0.0431	M	0.76574	2.34	0.09310	N	1	D	0.69078	0.997	D	0.77004	0.989	T	0.15122	-1.0448	9	0.16420	T	0.52	.	7.274	0.26273	0.0:1.0:0.0:0.0	.	269	A6NJL1	ZSA5B_HUMAN	N	269	ENSP00000351883:D269N	ENSP00000351883:D269N	D	-	1	0	ZSCAN5B	61393691	0.000000	0.05858	0.004000	0.12327	0.040000	0.13550	0.399000	0.20916	1.356000	0.45884	0.306000	0.20318	GAC		0.502	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456		24	111	0	0	0	1	0	24	111				
KHNYN	23351	broad.mit.edu	37	14	24900883	24900883	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr14:24900883C>T	ENST00000251343.5	+	3	555	c.416C>T	c.(415-417)gCa>gTa	p.A139V	CBLN3_ENST00000267406.6_5'Flank|CBLN3_ENST00000555436.1_5'Flank|KHNYN_ENST00000554268.1_5'Flank|KHNYN_ENST00000553935.1_Missense_Mutation_p.A139V|KHNYN_ENST00000556842.1_Missense_Mutation_p.A139V			O15037	KHNYN_HUMAN	KH and NYN domain containing	139							RNA binding (GO:0003723)			kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						GAAGAGCTGGCAGAGCGGCTG	0.622											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010tpc.2																			0				kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						c.(538-540)gCa>gTa		Homo sapiens KH and NYN domain containing (KHNYN), mRNA.							50.0	57.0	55.0					14																	24900883		2203	4300	6503	SO:0001583	missense	23351							g.chr14:24900883C>T	AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"""KIAA0323"""	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.416C>T	14.37:g.24900883C>T	ENSP00000251343:p.Ala139Val		OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	774	KHNYN_uc001wph.4_Missense_Mutation_p.A139V|KHNYN_uc010alw.3_Missense_Mutation_p.A139V|CBLN3_uc001wpg.4_5'Flank	p.A180V	NM_015299	NP_056114	O15037	KHNYN_HUMAN			2	555	+			139					Q86TZ6|Q8IUQ2|Q96BA9	Missense_Mutation	SNP	ENST00000251343.5	37	c.539C>T	CCDS32058.1	.	.	.	.	.	.	.	.	.	.	C	0.031	-1.331967	0.01298	.	.	ENSG00000100441	ENST00000251343;ENST00000556842;ENST00000553935	T;T;T	0.38722	1.12;1.12;1.12	5.04	-2.81	0.05805	.	0.675193	0.13453	N	0.386742	T	0.08403	0.0209	N	0.00496	-1.435	0.35182	D	0.772539	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44922	-0.9296	10	0.02654	T	1	.	5.0214	0.14363	0.1321:0.3312:0.0:0.5367	.	180;139	D3DS77;O15037	.;KHNYN_HUMAN	V	139	ENSP00000251343:A139V;ENSP00000451106:A139V;ENSP00000450799:A139V	ENSP00000251343:A139V	A	+	2	0	KHNYN	23970723	0.969000	0.33509	0.647000	0.29507	0.109000	0.19521	0.392000	0.20801	-0.211000	0.10124	-0.440000	0.05779	GCA		0.622	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412928.1			8	55	0	0	0	1	0	8	55				
UNC13A	23025	broad.mit.edu	37	19	17756912	17756912	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr19:17756912C>T	ENST00000519716.2	-	18	2052	c.2053G>A	c.(2053-2055)Gcc>Acc	p.A685T	UNC13A_ENST00000550896.1_Missense_Mutation_p.A683T|UNC13A_ENST00000552293.1_Missense_Mutation_p.A685T|UNC13A_ENST00000551649.1_Missense_Mutation_p.A685T|UNC13A_ENST00000252773.7_Missense_Mutation_p.A685T|UNC13A_ENST00000428389.2_Missense_Mutation_p.A773T	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	685	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)	p.A685T(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						AAGCCCTGGGCGCAGACCACT	0.557																																						uc021uqk.1																			1	Substitution - Missense(1)	p.A685T(1)	large_intestine(1)	breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						c.(2050-2052)Gcc>Acc		Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.							67.0	66.0	66.0					19																	17756912		2078	4249	6327	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17756912C>T	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.2053G>A	19.37:g.17756912C>T	ENSP00000429562:p.Ala685Thr						p.A684T	NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN			17	2092	-			685			C2 2.		E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.2050G>A	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052219	0.75960	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	D;D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94;-1.94	3.47	3.47	0.39725	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	U	0.000001	D	0.93598	0.7956	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94841	0.8005	10	0.87932	D	0	-20.1126	12.8397	0.57794	0.0:1.0:0.0:0.0	.	685	Q9UPW8	UN13A_HUMAN	T	685;773;685;685;685;683	ENSP00000429562:A685T;ENSP00000400409:A773T;ENSP00000252773:A685T;ENSP00000447236:A685T;ENSP00000447572:A685T;ENSP00000446831:A683T	ENSP00000252773:A685T	A	-	1	0	UNC13A	17617912	1.000000	0.71417	0.998000	0.56505	0.630000	0.37929	7.595000	0.82710	1.688000	0.51068	0.306000	0.20318	GCC		0.557	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		5	23	0	0	0	1	0	5	23				
ATG14	22863	broad.mit.edu	37	14	55848817	55848817	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr14:55848817G>A	ENST00000247178.5	-	6	775	c.740C>T	c.(739-741)tCa>tTa	p.S247L		NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14	247					autophagic vacuole assembly (GO:0000045)|endosome to lysosome transport (GO:0008333)|positive regulation of autophagy (GO:0010508)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|pre-autophagosomal structure membrane (GO:0034045)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						CCATCGTCCTGAGAGGTAAGT	0.532																																						uc001xbx.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						c.(739-741)tCa>tTa		Homo sapiens ATG14 autophagy related 14 homolog (S. cerevisiae) (ATG14), mRNA.							182.0	154.0	163.0					14																	55848817		2203	4300	6503	SO:0001583	missense	22863				autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding	g.chr14:55848817G>A	AB020638	CCDS32087.1	14q22.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000126775	ENSG00000126775			19962	protein-coding gene	gene with protein product	"""Barkor"", ""beclin 1-associated autophagy-related key regulator"""	613515	"""KIAA0831"", ""ATG14 autophagy related 14 homolog (S. cerevisiae)"""	KIAA0831		18843052	Standard	NM_014924		Approved	ATG14L	uc001xbx.2	Q6ZNE5	OTTHUMG00000172129	ENST00000247178.5:c.740C>T	14.37:g.55848817G>A	ENSP00000247178:p.Ser247Leu					FBXO34_uc001xbv.3_Intron|ATG14_uc001xbw.2_Missense_Mutation_p.S134L	p.S247L	NM_014924	NP_055739	Q6ZNE5	BAKOR_HUMAN			5	776	-			247					A6NJE4|A8K9U5|B7ZWP5|O94920|Q32MK7|Q32MK8	Missense_Mutation	SNP	ENST00000247178.5	37	c.740C>T	CCDS32087.1	.	.	.	.	.	.	.	.	.	.	g	20.2	3.955424	0.73902	.	.	ENSG00000126775	ENST00000247178	T	0.33216	1.42	5.87	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.48874	0.1524	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.44406	-0.9330	10	0.42905	T	0.14	-9.6849	17.1487	0.86773	0.0:0.1263:0.8737:0.0	.	247	Q6ZNE5	BAKOR_HUMAN	L	247	ENSP00000247178:S247L	ENSP00000247178:S247L	S	-	2	0	ATG14	54918570	1.000000	0.71417	0.097000	0.21041	0.542000	0.35054	9.614000	0.98353	1.464000	0.47987	0.650000	0.86243	TCA		0.532	ATG14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416992.1	NM_014924		21	81	0	0	0	1	0	21	81				
SNX31	169166	broad.mit.edu	37	8	101661544	101661544	+	Silent	SNP	G	G	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr8:101661544G>A	ENST00000311812.2	-	2	249	c.99C>T	c.(97-99)ttC>ttT	p.F33F		NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	33	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	protein complex (GO:0043234)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			GCACCCTGCAGAAGAGGAACC	0.612																																						uc003yjr.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26						c.(97-99)ttC>ttT		Homo sapiens sorting nexin 31 (SNX31), mRNA.							69.0	67.0	68.0					8																	101661544		2203	4300	6503	SO:0001819	synonymous_variant	169166				cell communication|protein transport		phosphatidylinositol binding	g.chr8:101661544G>A		CCDS6288.1	8q22.3	2011-05-03			ENSG00000174226	ENSG00000174226		"""Sorting nexins"""	28605	protein-coding gene	gene with protein product						16782399	Standard	NM_152628		Approved	MGC39715	uc003yjr.3	Q8N9S9	OTTHUMG00000164725	ENST00000311812.2:c.99C>T	8.37:g.101661544G>A							p.F33F	NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)		1	250	-	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		33			PX.		C9J6L9|Q8N0U9	Silent	SNP	ENST00000311812.2	37	c.99C>T	CCDS6288.1																																																																																				0.612	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379910.1	NM_152628		4	34	0	0	0	1	0	4	34				
TTBK2	146057	broad.mit.edu	37	15	43067809	43067809	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr15:43067809C>T	ENST00000267890.6	-	13	1630	c.1522G>A	c.(1522-1524)Gat>Aat	p.D508N		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	508					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TATTCTTCATCATAGTGCCAG	0.502																																						uc001zqo.2																			0				NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43						c.(1522-1524)Gat>Aat		Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.							103.0	100.0	101.0					15																	43067809		1989	4155	6144	SO:0001583	missense	146057				cell death		ATP binding|protein serine/threonine kinase activity	g.chr15:43067809C>T	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.1522G>A	15.37:g.43067809C>T	ENSP00000267890:p.Asp508Asn					TTBK2_uc010bcy.2_Missense_Mutation_p.D439N	p.D508N	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN		GBM - Glioblastoma multiforme(94;3.23e-07)	12	1961	-		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)	508					O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	ENST00000267890.6	37	c.1522G>A	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	C	36	5.691451	0.96793	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.66099	-0.19	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.79100	0.4389	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.961;0.996	T	0.79077	-0.1951	10	0.87932	D	0	.	20.4024	0.99000	0.0:1.0:0.0:0.0	.	439;508	Q6IQ55-2;Q6IQ55	.;TTBK2_HUMAN	N	508;438;913	ENSP00000267890:D508N	ENSP00000263802:D913N	D	-	1	0	TTBK2	40855101	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.294000	0.78760	2.827000	0.97445	0.650000	0.86243	GAT		0.502	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500		12	80	0	0	0	1	0	12	80				
CREB3L3	84699	broad.mit.edu	37	19	4154971	4154971	+	Missense_Mutation	SNP	G	G	A	rs201474344		TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr19:4154971G>A	ENST00000078445.2	+	2	250	c.103G>A	c.(103-105)Ggc>Agc	p.G35S	CREB3L3_ENST00000602257.1_Missense_Mutation_p.G35S|CREB3L3_ENST00000595923.1_Missense_Mutation_p.G35S|CREB3L3_ENST00000602147.1_Missense_Mutation_p.G35S|CREB3L3_ENST00000252587.3_Missense_Mutation_p.G26S	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	35					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGCAGGACGGCATCCTGAG	0.637																																						uc002lzl.3																			0				breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24						c.(103-105)Ggc>Agc		Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA.		G	SER/GLY	2,4404	4.2+/-10.8	0,2,2201	96.0	84.0	88.0		103	5.2	0.9	19		88	0,8600		0,0,4300	no	missense	CREB3L3	NM_032607.1	56	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	35/462	4154971	2,13004	2203	4300	6503	SO:0001583	missense	84699				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:4154971G>A		CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"""basic leucine zipper proteins"""	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.103G>A	19.37:g.4154971G>A	ENSP00000078445:p.Gly35Ser					CREB3L3_uc002lzm.3_Missense_Mutation_p.G26S|CREB3L3_uc010xib.2_Missense_Mutation_p.G26S|CREB3L3_uc010xic.2_Missense_Mutation_p.G26S	p.G35S	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)	1	219	+			35					B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Missense_Mutation	SNP	ENST00000078445.2	37	c.103G>A	CCDS12121.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.674006	0.67928	4.54E-4	0.0	ENSG00000060566	ENST00000078445;ENST00000381943;ENST00000252587	D;D	0.91686	-2.89;-2.89	5.18	5.18	0.71444	.	0.057246	0.64402	D	0.000001	D	0.94785	0.8316	M	0.72894	2.215	0.37460	D	0.915194	D;D;D;D	0.89917	1.0;0.998;0.999;0.998	D;P;P;P	0.91635	0.999;0.757;0.877;0.757	D	0.93625	0.6951	10	0.16420	T	0.52	-9.6483	14.2452	0.65983	0.0:0.0:1.0:0.0	.	35;35;35;35	Q68CJ9-3;B7ZL69;Q68CJ9-2;Q68CJ9	.;.;.;CR3L3_HUMAN	S	35;35;26	ENSP00000078445:G35S;ENSP00000252587:G26S	ENSP00000078445:G35S	G	+	1	0	CREB3L3	4105971	1.000000	0.71417	0.897000	0.35233	0.238000	0.25445	5.804000	0.69135	2.428000	0.82296	0.306000	0.20318	GGC		0.637	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1	NM_032607		26	63	0	0	0	1	0	26	63				
TYMP	1890	broad.mit.edu	37	22	50967746	50967746	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr22:50967746C>A	ENST00000252029.3	-	3	398	c.236G>T	c.(235-237)cGa>cTa	p.R79L	TYMP_ENST00000395681.1_Missense_Mutation_p.R79L|TYMP_ENST00000395680.1_Missense_Mutation_p.R79L|TYMP_ENST00000395678.3_Missense_Mutation_p.R79L|SCO2_ENST00000543927.1_5'Flank	NM_001113755.2|NM_001113756.2|NM_001257988.1|NM_001257989.1|NM_001953.4	NP_001107227.1|NP_001107228.1|NP_001244917.1|NP_001244918.1|NP_001944.1	P19971	TYPH_HUMAN	thymidine phosphorylase	79					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|chemotaxis (GO:0006935)|DNA replication (GO:0006260)|mitochondrial genome maintenance (GO:0000002)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphorylase activity (GO:0004645)|platelet-derived growth factor receptor binding (GO:0005161)|pyrimidine-nucleoside phosphorylase activity (GO:0016154)|thymidine phosphorylase activity (GO:0009032)|transferase activity, transferring pentosyl groups (GO:0016763)			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Cidofovir(DB00369)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Trifluridine(DB00432)	GCCCCGAAGTCGGATGGCCAT	0.692																																						uc003bme.4																			0				large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5						c.(235-237)cGa>cTa		Homo sapiens thymidine phosphorylase (TYMP), transcript variant 2, mRNA.	Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675)						40.0	41.0	41.0					22																	50967746		2203	4298	6501	SO:0001583	missense	1890				DNA replication|angiogenesis|cell differentiation|chemotaxis|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol	growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity	g.chr22:50967746C>A	M63193	CCDS14096.1, CCDS58811.1	22q13	2014-09-17	2008-01-21	2008-01-21	ENSG00000025708	ENSG00000025708	2.4.2.4		3148	protein-coding gene	gene with protein product	"""gliostatin"""	131222	"""endothelial cell growth factor 1 (platelet-derived)"""	MNGIE, ECGF1		1590793, 11733540	Standard	NM_001113755		Approved		uc003bme.5	P19971	OTTHUMG00000150249	ENST00000252029.3:c.236G>T	22.37:g.50967746C>A	ENSP00000252029:p.Arg79Leu					SCO2_uc021wsa.1_5'Flank|TYMP_uc003bmb.4_Missense_Mutation_p.R79L|TYMP_uc003bmc.4_Missense_Mutation_p.R79L|TYMP_uc010hbd.3_Missense_Mutation_p.R79L|TYMP_uc003bmd.4_Missense_Mutation_p.R79L|TYMP_uc011arz.1_Missense_Mutation_p.R79L	p.R79L	NM_001953	NP_001944	P19971	TYPH_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	2	428	-		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	79					A8MW15|H9KVA0|Q13390|Q8WVB7	Missense_Mutation	SNP	ENST00000252029.3	37	c.236G>T	CCDS14096.1	.	.	.	.	.	.	.	.	.	.	C	9.085	1.000211	0.19121	.	.	ENSG00000025708	ENST00000395680;ENST00000395681;ENST00000252029;ENST00000395678;ENST00000425169	D;D;D;D;D	0.94793	-3.52;-3.52;-3.52;-3.52;-3.52	4.76	3.73	0.42828	Glycosyl transferase, family 3, N-terminal (2);Glycosyl transferase, family 3, subgroup, N-terminal (1);	0.155014	0.46145	D	0.000307	D	0.88157	0.6361	N	0.20685	0.6	0.46044	D	0.998832	P;P;P;P	0.52170	0.951;0.907;0.907;0.907	B;B;B;B	0.40602	0.334;0.236;0.236;0.236	D	0.87543	0.2460	10	0.66056	D	0.02	-8.504	10.6052	0.45390	0.0:0.9036:0.0:0.0964	.	79;79;79;79	B4DVR2;B2RBL3;E5KRG5;P19971	.;.;.;TYPH_HUMAN	L	79	ENSP00000379037:R79L;ENSP00000379038:R79L;ENSP00000252029:R79L;ENSP00000379036:R79L;ENSP00000395875:R79L	ENSP00000252029:R79L	R	-	2	0	TYMP	49314612	0.994000	0.37717	0.836000	0.33094	0.324000	0.28378	2.403000	0.44530	0.992000	0.38840	0.462000	0.41574	CGA		0.692	TYMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317081.1	NM_001953		13	26	0	0	0	1	0	13	26				
MYO9B	4650	broad.mit.edu	37	19	17313022	17313022	+	Silent	SNP	G	G	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr19:17313022G>A	ENST00000594824.1	+	28	4893	c.4746G>A	c.(4744-4746)caG>caA	p.Q1582Q	MYO9B_ENST00000397274.2_Silent_p.Q1582Q|MYO9B_ENST00000595618.1_Silent_p.Q1582Q			Q13459	MYO9B_HUMAN	myosin IXB	1582	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AGCGTGGCCAGAAGGACACCA	0.562																																						uc010eak.3																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.(4744-4746)caG>caA		Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.							42.0	45.0	44.0					19																	17313022		2013	4181	6194	SO:0001819	synonymous_variant	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor activity	g.chr19:17313022G>A		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.4746G>A	19.37:g.17313022G>A						MYO9B_uc002nfi.3_Silent_p.Q1582Q|MYO9B_uc002nfj.1_Silent_p.Q1582Q|MYO9B_uc002nfl.1_Silent_p.Q131Q	p.Q1582Q	NM_004145	NP_004136	Q13459	MYO9B_HUMAN			27	4898	+			1582			Tail.		O75314|Q9NUJ2|Q9UHN0	Silent	SNP	ENST00000594824.1	37	c.4746G>A																																																																																					0.562	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			5	12	0	0	0	1	0	5	12				
SLC39A2	29986	broad.mit.edu	37	14	21468323	21468323	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr14:21468323C>T	ENST00000298681.4	+	3	452	c.295C>T	c.(295-297)Cat>Tat	p.H99Y	SLC39A2_ENST00000554422.1_3'UTR|RP11-84C10.4_ENST00000557335.1_RNA	NM_014579.3	NP_055394.2	Q9NP94	S39A2_HUMAN	solute carrier family 39 (zinc transporter), member 2	99					transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		TGATTCAGCTCATGTAAGTAC	0.463																																						uc001vyr.3																			0				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14						c.(295-297)Cat>Tat		Homo sapiens solute carrier family 39 (zinc transporter), member 2 (SLC39A2), transcript variant 1, mRNA.							109.0	95.0	100.0					14																	21468323		2203	4300	6503	SO:0001583	missense	29986					cytoplasmic membrane-bounded vesicle|integral to plasma membrane	zinc ion transmembrane transporter activity	g.chr14:21468323C>T	AF186081	CCDS9563.1, CCDS58303.1	14q11.1	2013-05-22			ENSG00000165794	ENSG00000165794		"""Solute carriers"""	17127	protein-coding gene	gene with protein product		612166				10681536, 7751801	Standard	NM_014579		Approved	ZIP2	uc001vyr.3	Q9NP94	OTTHUMG00000029616	ENST00000298681.4:c.295C>T	14.37:g.21468323C>T	ENSP00000298681:p.His99Tyr					SLC39A2_uc001vys.3_5'UTR	p.H99Y	NM_014579	NP_055394	Q9NP94	S39A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)	2	487	+	all_cancers(95;0.00267)		99					B2RC76|G3V5X2|Q4QQJ1|Q4V9S4|Q96JT6|Q9UD20	Missense_Mutation	SNP	ENST00000298681.4	37	c.295C>T	CCDS9563.1	.	.	.	.	.	.	.	.	.	.	C	0.354	-0.943163	0.02322	.	.	ENSG00000165794	ENST00000298681	T	0.08102	3.13	5.27	-5.19	0.02832	.	3.072470	0.00674	N	0.000649	T	0.02342	0.0072	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38845	-0.9642	10	0.02654	T	1	13.8239	4.1357	0.10169	0.1183:0.186:0.1167:0.579	.	99	Q9NP94	S39A2_HUMAN	Y	99	ENSP00000298681:H99Y	ENSP00000298681:H99Y	H	+	1	0	SLC39A2	20538163	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	-0.887000	0.04152	-0.684000	0.05183	-0.150000	0.13652	CAT		0.463	SLC39A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073829.2	NM_014579		7	41	0	0	0	1	0	7	41				
PPP1R14C	81706	broad.mit.edu	37	6	150464574	150464574	+	Silent	SNP	G	G	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr6:150464574G>T	ENST00000361131.4	+	1	363	c.246G>T	c.(244-246)cgG>cgT	p.R82R		NM_030949.2	NP_112211.1	Q8TAE6	PP14C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14C	82					regulation of phosphorylation (GO:0042325)	cytoplasm (GO:0005737)|membrane (GO:0016020)	protein serine/threonine phosphatase inhibitor activity (GO:0004865)			endometrium(1)|large_intestine(1)|prostate(1)	3		Ovarian(120;0.0284)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)		AGGAGCTTCGGAAGCGGCTGG	0.647																																					Melanoma(165;1879 1941 2052 16588 48349)	uc003qnt.3																			0				endometrium(1)|large_intestine(1)|prostate(1)	3						c.(244-246)cgG>cgT		Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 14C (PPP1R14C), mRNA.							37.0	39.0	39.0					6																	150464574		2203	4300	6503	SO:0001819	synonymous_variant	81706				regulation of phosphorylation	cytoplasm|membrane		g.chr6:150464574G>T	AF308297	CCDS5226.1	6q24.3-q25.3	2012-04-17			ENSG00000198729	ENSG00000198729		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14952	protein-coding gene	gene with protein product	"""kinase C-enhanced PP1 inhibitor"""	613242				11948623	Standard	NM_030949		Approved	CPI17-like, NY-BR-81, KEPI	uc003qnt.3	Q8TAE6	OTTHUMG00000015818	ENST00000361131.4:c.246G>T	6.37:g.150464574G>T							p.R82R	NM_030949	NP_112211	Q8TAE6	PP14C_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)	0	387	+		Ovarian(120;0.0284)	82					Q5VY83|Q96BB1|Q9H277	Silent	SNP	ENST00000361131.4	37	c.246G>T	CCDS5226.1																																																																																				0.647	PPP1R14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042685.1	NM_030949		7	16	0	0	0	1	0	7	16				
OR10Q1	219960	broad.mit.edu	37	11	57995529	57995529	+	Silent	SNP	C	C	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr11:57995529C>T	ENST00000316770.2	-	1	861	c.819G>A	c.(817-819)gaG>gaA	p.E273E		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				TGTCCTCATCCTCTGAGGTGC	0.572																																						uc010rkd.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35						c.(817-819)gaG>gaA		Homo sapiens olfactory receptor, family 10, subfamily Q, member 1 (OR10Q1), mRNA.							105.0	93.0	97.0					11																	57995529		2201	4295	6496	SO:0001819	synonymous_variant	219960				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57995529C>T	AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"""GPCR / Class A : Olfactory receptors"""	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.819G>A	11.37:g.57995529C>T							p.E273E	NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN			0	862	-		Breast(21;0.0589)	273					Q6IFG4	Silent	SNP	ENST00000316770.2	37	c.819G>A	CCDS31547.1																																																																																				0.572	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394706.1	NM_001004471		30	38	0	0	0	1	0	30	38				
OXER1	165140	broad.mit.edu	37	2	42991084	42991084	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr2:42991084G>C	ENST00000378661.2	-	1	317	c.236C>G	c.(235-237)tCt>tGt	p.S79C		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	79	Ser-rich.				G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cAMP biosynthetic process (GO:0030817)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050648)|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050647)|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050646)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						GGGCCCTCCAGAGGACCCCCC	0.627																																						uc002rss.3																			0		p.S78fs*61(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						c.(235-237)tCt>tGt		Homo sapiens oxoeicosanoid (OXE) receptor 1 (OXER1), mRNA.							30.0	34.0	33.0					2																	42991084		2203	4300	6503	SO:0001583	missense	165140				regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity	g.chr2:42991084G>C	AB083055	CCDS1810.1	2p22.1	2012-08-10			ENSG00000162881	ENSG00000162881		"""GPCR / Class A : Leukotriene receptors"""	24884	protein-coding gene	gene with protein product	"""5-oxo-ETE acid G-protein-coupled receptor 1"""					12065583, 15001665	Standard	NM_148962		Approved	GPCR, TG1019, GPR170	uc002rss.3	Q8TDS5	OTTHUMG00000128643	ENST00000378661.2:c.236C>G	2.37:g.42991084G>C	ENSP00000367930:p.Ser79Cys						p.S79C	NM_148962	NP_683765	Q8TDS5	OXER1_HUMAN			0	318	-			79			Ser-rich.		Q86WP7|Q8NGW4	Missense_Mutation	SNP	ENST00000378661.2	37	c.236C>G	CCDS1810.1	.	.	.	.	.	.	.	.	.	.	G	8.765	0.924573	0.18056	.	.	ENSG00000162881	ENST00000378661	T	0.61510	0.1	2.7	-0.823	0.10815	.	1.098910	0.07490	U	0.905469	T	0.32346	0.0826	N	0.08118	0	0.09310	N	1	B	0.23185	0.081	B	0.14023	0.01	T	0.20405	-1.0276	10	0.59425	D	0.04	.	3.9433	0.09338	0.1345:0.0:0.3617:0.5038	.	79	Q8TDS5	OXER1_HUMAN	C	79	ENSP00000367930:S79C	ENSP00000367930:S79C	S	-	2	0	OXER1	42844588	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.048000	0.14078	-0.192000	0.10432	0.555000	0.69702	TCT		0.627	OXER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250514.1	NM_148962		9	20	0	0	0	1	0	9	20				
CNTRL	11064	broad.mit.edu	37	9	123936008	123936008	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr9:123936008G>A	ENST00000373855.1	+	42	7000	c.6740G>A	c.(6739-6741)cGa>cAa	p.R2247Q	CNTRL_ENST00000373850.1_Missense_Mutation_p.R1695Q|CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000238341.5_Missense_Mutation_p.R2247Q			Q7Z7A1	CNTRL_HUMAN	centriolin	2247	Sufficient for interaction with HOOK2.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						CGGGAAGACCGACTCAAGGTT	0.463																																						uc004bkx.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						c.(6739-6741)cGa>cAa		Homo sapiens centriolin (CNTRL), mRNA.							110.0	117.0	114.0					9																	123936008		2203	4300	6503	SO:0001583	missense	11064				G2/M transition of mitotic cell cycle|cell division	centrosome|cytosol	protein binding	g.chr9:123936008G>A	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.6740G>A	9.37:g.123936008G>A	ENSP00000362962:p.Arg2247Gln					CNTRL_uc004blb.1_Missense_Mutation_p.R916Q|CNTRL_uc010mvp.1_Missense_Mutation_p.R197Q	p.R2247Q	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN			39	6771	+			2247			Sufficient for interaction with HOOK2.		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	c.6740G>A	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.150376	0.37923	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000394368;ENST00000373850;ENST00000373845	T;T;T	0.33216	1.71;1.71;1.42	6.03	4.18	0.49190	.	.	.	.	.	T	0.19485	0.0468	L	0.28115	0.83	0.29888	N	0.825473	B	0.30193	0.272	B	0.15052	0.012	T	0.09400	-1.0676	9	0.27082	T	0.32	.	11.043	0.47842	0.1522:0.0:0.8478:0.0	.	2247	Q7Z7A1	CNTRL_HUMAN	Q	2247;2247;2247;404;1695;929	ENSP00000362962:R2247Q;ENSP00000238341:R2247Q;ENSP00000362956:R1695Q	ENSP00000238341:R2247Q	R	+	2	0	CNTRL	122975829	0.996000	0.38824	0.989000	0.46669	0.399000	0.30720	2.043000	0.41231	0.866000	0.35629	-0.140000	0.14226	CGA		0.463	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		18	108	0	0	0	1	0	18	108				
MRS2	57380	broad.mit.edu	37	6	24409748	24409748	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr6:24409748C>T	ENST00000378386.3	+	4	454	c.361C>T	c.(361-363)Cag>Tag	p.Q121*	MRS2_ENST00000274747.7_Intron|MRS2_ENST00000443868.2_Nonsense_Mutation_p.Q121*|MRS2_ENST00000543597.1_5'UTR|MRS2_ENST00000535061.1_Intron|MRS2_ENST00000378353.1_Nonsense_Mutation_p.Q121*|MRS2_ENST00000483634.1_Intron	NM_020662.2	NP_065713.1	Q9HD23	MRS2_HUMAN	MRS2 magnesium transporter	121						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						TTTGAGATTTCAGCATGTAAT	0.303																																						uc011djl.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						c.(361-363)Cag>Tag		Homo sapiens MRS2 magnesium homeostasis factor homolog (S. cerevisiae) (MRS2), mRNA.							88.0	90.0	89.0					6																	24409748		2203	4299	6502	SO:0001587	stop_gained	57380				ion transport	integral to membrane|mitochondrial inner membrane		g.chr6:24409748C>T	AF288288	CCDS4552.1, CCDS69055.1, CCDS69056.1, CCDS75408.1	6p22.3-p22.1	2013-05-03	2013-05-03	2008-01-18	ENSG00000124532	ENSG00000124532			13785	protein-coding gene	gene with protein product			"""MRS2-like, magnesium homeostasis factor (S. cerevisiae)"", ""MRS2 magnesium homeostasis factor homolog (S. cerevisiae)"""	MRS2L			Standard	XM_005249242		Approved		uc003neb.3	Q9HD23	OTTHUMG00000014355	ENST00000378386.3:c.361C>T	6.37:g.24409748C>T	ENSP00000367637:p.Gln121*					MRS2_uc003nea.3_Nonsense_Mutation_p.Q121*|MRS2_uc003neb.3_Nonsense_Mutation_p.Q121*|MRS2_uc011djm.2_Non-coding_Transcript|MRS2_uc011djn.2_Intron	p.Q121*	NM_020662	NP_065713	Q9HD23	MRS2_HUMAN			3	483	+			121					A8K4U3|B3KNN2|B4DQL2|Q5T3Y1|Q6NTG4|Q96KF8|Q9BVP1	Nonsense_Mutation	SNP	ENST00000378386.3	37	c.361C>T	CCDS4552.1	.	.	.	.	.	.	.	.	.	.	C	37	6.516849	0.97629	.	.	ENSG00000124532	ENST00000378386;ENST00000378353;ENST00000443868	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-25.1512	19.7727	0.96373	0.0:1.0:0.0:0.0	.	.	.	.	X	121	.	ENSP00000367604:Q121X	Q	+	1	0	MRS2	24517727	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.636000	0.83301	2.758000	0.94735	0.563000	0.77884	CAG		0.303	MRS2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040002.1			5	68	0	0	0	1	0	5	68				
PIBF1	10464	broad.mit.edu	37	13	73539420	73539420	+	Missense_Mutation	SNP	A	A	C			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr13:73539420A>C	ENST00000326291.6	+	15	2180	c.1842A>C	c.(1840-1842)agA>agC	p.R614S		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	614				DLEHRKDQVTQLSQELDR -> RSGTSKGPSNTAFTRSLTE (in Ref. 3; AAQ67659). {ECO:0000305}.		centrosome (GO:0005813)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		AGCTTGACAGAGCCAATTCGC	0.343																																						uc001vjc.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(1840-1842)agA>agC		Homo sapiens progesterone immunomodulatory binding factor 1 (PIBF1), mRNA.							77.0	74.0	75.0					13																	73539420		2202	4300	6502	SO:0001583	missense	10464					centrosome		g.chr13:73539420A>C	AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"""progesterone-induced blocking factor 1"""	607532	"""chromosome 13 open reading frame 24"""	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.1842A>C	13.37:g.73539420A>C	ENSP00000317144:p.Arg614Ser					PIBF1_uc001vjb.3_Missense_Mutation_p.R614S|PIBF1_uc010aep.3_Missense_Mutation_p.R73S	p.R614S	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN		GBM - Glioblastoma multiforme(99;0.000664)	14	2147	+		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)	614	DLEHRKDQVTQLSQELDR -> RSGTSKGPSNTAFTRSLTE (in Ref. 3; AAQ67659).				O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Missense_Mutation	SNP	ENST00000326291.6	37	c.1842A>C	CCDS31991.1	.	.	.	.	.	.	.	.	.	.	A	7.008	0.556202	0.13436	.	.	ENSG00000083535	ENST00000326291;ENST00000326314	T	0.26373	1.74	4.85	1.89	0.25635	.	0.232106	0.43747	D	0.000538	T	0.15955	0.0384	L	0.40543	1.245	0.43971	D	0.996659	P;P	0.36909	0.573;0.573	B;B	0.36666	0.23;0.23	T	0.10428	-1.0630	10	0.18276	T	0.48	-12.416	4.4416	0.11577	0.5655:0.0:0.2674:0.1671	.	614;614	Q8WXW3;Q4G0R1	PIBF1_HUMAN;.	S	614;73	ENSP00000317144:R614S	ENSP00000317144:R614S	R	+	3	2	PIBF1	72437421	0.999000	0.42202	1.000000	0.80357	0.645000	0.38454	0.350000	0.20079	0.148000	0.19059	-0.462000	0.05337	AGA		0.343	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045255.1	NM_006346		10	29	0	0	0	1	0	10	29				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333	NP_004324	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		18	53	0	0	0	1	0	18	53				
WHSC1L1	54904	broad.mit.edu	37	8	38205277	38205277	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr8:38205277G>A	ENST00000317025.8	-	2	930	c.413C>T	c.(412-414)tCg>tTg	p.S138L	WHSC1L1_ENST00000316985.3_Missense_Mutation_p.S138L|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.S138L|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.S138L	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	138					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TTGTGGTACCGAAGGAGGAGG	0.418			T	NUP98	AML																																	uc003xli.3				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		0				NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(412-414)tCg>tTg		Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA.							94.0	100.0	98.0					8																	38205277		2203	4300	6503	SO:0001583	missense	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38205277G>A	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.413C>T	8.37:g.38205277G>A	ENSP00000313983:p.Ser138Leu					WHSC1L1_uc011lbm.2_Missense_Mutation_p.S138L|WHSC1L1_uc010lwe.3_Missense_Mutation_p.S138L|WHSC1L1_uc003xlj.3_Missense_Mutation_p.S138L	p.S138L	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		1	931	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	138					B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	ENST00000317025.8	37	c.413C>T	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.241230	0.39598	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502;ENST00000316985;ENST00000529223	D;D;D;T;T	0.95482	-3.72;-3.71;-3.71;-0.26;0.8	5.03	4.16	0.48862	.	0.422482	0.17399	U	0.175632	D	0.89455	0.6720	N	0.14661	0.345	0.32899	D	0.512977	P;P;B;P	0.43909	0.727;0.821;0.009;0.727	B;B;B;B	0.38616	0.143;0.277;0.008;0.143	D	0.90172	0.4236	10	0.34782	T	0.22	.	13.2932	0.60282	0.0759:0.0:0.9241:0.0	.	138;138;138;138	B7ZL11;Q9BZ95-2;Q9BZ95-3;Q9BZ95	.;.;.;NSD3_HUMAN	L	138;138;75;138;138;138	ENSP00000393284:S138L;ENSP00000313983:S138L;ENSP00000434730:S138L;ENSP00000313410:S138L;ENSP00000435422:S138L	ENSP00000313410:S138L	S	-	2	0	WHSC1L1	38324434	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.023000	0.49666	1.329000	0.45376	0.563000	0.77884	TCG		0.418	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		23	79	0	0	0	1	0	23	79				
PNCK	139728	broad.mit.edu	37	X	152937598	152937598	+	Silent	SNP	G	G	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chrX:152937598G>A	ENST00000370150.1	-	4	436	c.258C>T	c.(256-258)ctC>ctT	p.L86L	PNCK_ENST00000447676.2_Silent_p.L169L|PNCK_ENST00000370145.4_Silent_p.L103L|PNCK_ENST00000370142.1_Silent_p.L86L|PNCK_ENST00000393831.2_Silent_p.L86L|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000340888.3_Silent_p.L86L			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	86	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.L86L(1)|p.L103L(1)|p.L115L(1)		breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGCCAGGTAGAGGTGGGAAG	0.637																																						uc011myu.2																			3	Substitution - coding silent(3)	p.L86L(1)|p.L103L(1)|p.L115L(1)	breast(3)	breast(2)|lung(3)|skin(1)	6						c.(505-507)ctC>ctT		Homo sapiens pregnancy up-regulated non-ubiquitously expressed CaM kinase (PNCK), transcript variant 1, mRNA.							95.0	70.0	79.0					X																	152937598		2203	4300	6503	SO:0001819	synonymous_variant	139728					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chrX:152937598G>A	BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"""pregnancy upregulated non-ubiquitously expressed CaM kinase"", ""pregnancy up-regulated non-ubiquitously expressed CaM kinase"""			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000370150.1:c.258C>T	X.37:g.152937598G>A						PNCK_uc011myt.2_Silent_p.L103L|PNCK_uc004fhz.4_5'UTR|PNCK_uc010nuh.2_Silent_p.L169L|PNCK_uc011myv.2_Silent_p.L113L|PNCK_uc011myw.2_Silent_p.L113L	p.L169L	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN			3	693	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		86			Protein kinase.		B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	Silent	SNP	ENST00000370150.1	37	c.507C>T		.	.	.	.	.	.	.	.	.	.	g	13.13	2.146238	0.37923	.	.	ENSG00000130822	ENST00000418241	T	0.52295	0.67	5.01	-3.36	0.04913	.	.	.	.	.	T	0.49150	0.1540	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53201	-0.8472	6	0.87932	D	0	-15.5739	6.7283	0.23369	0.1524:0.5789:0.1666:0.1021	.	.	.	.	F	93	ENSP00000411267:S93F	ENSP00000391264:S76F	S	-	2	0	PNCK	152590792	0.316000	0.24580	0.856000	0.33681	0.891000	0.51852	-0.357000	0.07651	-0.966000	0.03587	-1.192000	0.01694	TCT		0.637	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000061044.2	NM_198452		6	22	0	0	0	1	0	6	22				
RASD2	23551	broad.mit.edu	37	22	35947855	35947855	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr22:35947855C>T	ENST00000216127.4	+	3	1219	c.577C>T	c.(577-579)Cca>Tca	p.P193S		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	193	Interaction with GNB1, GNB2 and GNB3.				locomotory behavior (GO:0007626)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein sumoylation (GO:0033235)|regulation of cAMP-mediated signaling (GO:0043949)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission, dopaminergic (GO:0001963)	plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						GGCCAAGCTGCCACACGAGAT	0.612																																						uc003anx.3																			0				endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						c.(577-579)Cca>Tca		Homo sapiens RASD family, member 2 (RASD2), mRNA.							115.0	81.0	93.0					22																	35947855		2203	4300	6503	SO:0001583	missense	23551				locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity	g.chr22:35947855C>T	AF279143	CCDS13916.1	22q13.1	2014-05-09			ENSG00000100302	ENSG00000100302			18229	protein-coding gene	gene with protein product	"""tumor endothelial marker 2"", ""Ras homolog enriched in striatum"""	612842				10947988, 10467249, 14724584	Standard	NM_014310		Approved	TEM2, Rhes, MGC:4834	uc003anx.3	Q96D21	OTTHUMG00000150607	ENST00000216127.4:c.577C>T	22.37:g.35947855C>T	ENSP00000216127:p.Pro193Ser					RASD2_uc003any.3_Missense_Mutation_p.P193S	p.P193S	NM_014310	NP_055125	Q96D21	RHES_HUMAN			2	782	+			193			Interaction with GNB1, GNB2 and GNB3.		O95520|Q5THY8	Missense_Mutation	SNP	ENST00000216127.4	37	c.577C>T	CCDS13916.1	.	.	.	.	.	.	.	.	.	.	C	35	5.468382	0.96274	.	.	ENSG00000100302	ENST00000216127	T	0.72051	-0.62	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.82893	0.5136	L	0.60067	1.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82456	-0.0448	10	0.54805	T	0.06	.	19.877	0.96880	0.0:1.0:0.0:0.0	.	193	Q96D21	RHES_HUMAN	S	193	ENSP00000216127:P193S	ENSP00000216127:P193S	P	+	1	0	RASD2	34277801	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.724000	0.84798	2.709000	0.92574	0.561000	0.74099	CCA		0.612	RASD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319063.1	NM_014310		3	34	0	0	0	1	0	3	34				
ZDHHC14	79683	broad.mit.edu	37	6	157803239	157803239	+	Silent	SNP	C	C	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr6:157803239C>T	ENST00000359775.5	+	1	1075	c.186C>T	c.(184-186)ggC>ggT	p.G62G	ZDHHC14_ENST00000414563.2_Silent_p.G62G			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	62					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		GGCAGACGGGCGTCTTCTACC	0.592																																						uc003qqt.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17						c.(184-186)ggC>ggT		Homo sapiens zinc finger, DHHC-type containing 14 (ZDHHC14), transcript variant 1, mRNA.							47.0	52.0	50.0					6																	157803239		2203	4296	6499	SO:0001819	synonymous_variant	79683					integral to membrane	acyltransferase activity|zinc ion binding	g.chr6:157803239C>T	AF542388	CCDS5252.1, CCDS47510.1	6q25.3	2008-05-02			ENSG00000175048	ENSG00000175048		"""Zinc fingers, DHHC-type"""	20341	protein-coding gene	gene with protein product							Standard	NM_024630		Approved	FLJ20984, NEW1CP	uc003qqt.3	Q8IZN3	OTTHUMG00000015896	ENST00000359775.5:c.186C>T	6.37:g.157803239C>T						ZDHHC14_uc003qqs.3_Silent_p.G62G	p.G62G	NM_024630	NP_078906	Q8IZN3	ZDH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)	0	683	+		Breast(66;0.00586)|Ovarian(120;0.123)	62					A6NDB7|Q5JS07|Q5JS08|Q6PHS4|Q8IZN2|Q9H7F1	Silent	SNP	ENST00000359775.5	37	c.186C>T	CCDS5252.1																																																																																				0.592	ZDHHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042841.2	NM_153746		18	36	0	0	0	1	0	18	36				
RAB11FIP2	22841	broad.mit.edu	37	10	119798740	119798740	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr10:119798740delC	ENST00000355624.3	-	3	1447	c.1008delG	c.(1006-1008)atgfs	p.M336fs	RP11-354M20.3_ENST00000451610.2_RNA|RP11-354M20.3_ENST00000417968.4_RNA|RAB11FIP2_ENST00000369199.3_Frame_Shift_Del_p.M336fs	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	336					establishment of cell polarity (GO:0030010)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		AAAATAAATTCATGCTGCTGT	0.343																																						uc009xyz.2																			0		p.S335N(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19						c.(1006-1008)atgfs		Homo sapiens RAB11 family interacting protein 2 (class I) (RAB11FIP2), mRNA.							113.0	117.0	116.0					10																	119798740		2203	4299	6502	SO:0001589	frameshift_variant	22841				protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity	g.chr10:119798740delC	AY037299	CCDS7602.1	10q26.12	2004-07-22			ENSG00000107560	ENSG00000107560			29152	protein-coding gene	gene with protein product		608599				11994279, 10231032	Standard	NM_014904		Approved	KIAA0941, nRip11, Rab11-FIP2	uc001ldj.2	Q7L804	OTTHUMG00000019128	ENST00000355624.3:c.1008delG	10.37:g.119798740delC	ENSP00000347839:p.Met336fs					RAB11FIP2_uc001ldj.2_Frame_Shift_Del_p.M336fs	p.M336fs	NM_014904	NP_055719	Q7L804	RFIP2_HUMAN		all cancers(201;0.0238)	2	1448	-		Colorectal(252;0.235)	336					A6NEI4|Q3I768|Q9Y2F0	Frame_Shift_Del	DEL	ENST00000355624.3	37	c.1008delG	CCDS7602.1																																																																																				0.343	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050583.1	NM_014904		32	70						32	70	---	---	---	---
SIRT2	22933	broad.mit.edu	37	19	39370317	39370317	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr19:39370317delA	ENST00000249396.7	-	14	1203	c.902delT	c.(901-903)atgfs	p.M301fs	SIRT2_ENST00000392081.2_Frame_Shift_Del_p.M264fs|RINL_ENST00000340740.3_5'Flank|RINL_ENST00000598904.1_5'Flank|RINL_ENST00000591812.1_5'Flank|SIRT2_ENST00000358931.5_Intron	NM_012237.3	NP_036369.2	Q8IXJ6	SIR2_HUMAN	sirtuin 2	301	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.|Peptide inhibitor binding.				autophagy (GO:0006914)|cellular lipid catabolic process (GO:0044242)|cellular response to caloric restriction (GO:0061433)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to hypoxia (GO:0071456)|cellular response to molecule of bacterial origin (GO:0071219)|cellular response to oxidative stress (GO:0034599)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|chromatin silencing at telomere (GO:0006348)|gene silencing (GO:0016458)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|innate immune response (GO:0045087)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|myelination in peripheral nervous system (GO:0022011)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)|negative regulation of defense response to bacterium (GO:1900425)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of oligodendrocyte progenitor proliferation (GO:0070446)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cell division (GO:0051781)|positive regulation of DNA binding (GO:0043388)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of meiosis (GO:0045836)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)|protein kinase B signaling (GO:0043491)|regulation of cell cycle (GO:0051726)|regulation of exit from mitosis (GO:0007096)|regulation of myelination (GO:0031641)|regulation of phosphorylation (GO:0042325)|response to redox state (GO:0051775)|ripoptosome assembly involved in necroptotic process (GO:1901026)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)	centriole (GO:0005814)|centrosome (GO:0005813)|chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|glial cell projection (GO:0097386)|juxtaparanode region of axon (GO:0044224)|lateral loop (GO:0043219)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|myelin sheath (GO:0043209)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|spindle (GO:0005819)	chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|NAD-dependent protein deacetylase activity (GO:0034979)|protein deacetylase activity (GO:0033558)|transcription factor binding (GO:0008134)|tubulin deacetylase activity (GO:0042903)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			TCCGAGGCCCATAATCATCCC	0.652																																						uc002ojt.2																			0				endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9						c.(901-903)atgfs		Homo sapiens sirtuin 2 (SIRT2), transcript variant 1, mRNA.							13.0	12.0	13.0					19																	39370317		2197	4295	6492	SO:0001589	frameshift_variant	22933				cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	NAD+ binding|NAD-dependent histone deacetylase activity|histone acetyltransferase binding|histone deacetylase binding|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding	g.chr19:39370317delA	AF083107	CCDS12523.1, CCDS46069.1, CCDS74361.1	19q13	2010-06-25	2010-06-25		ENSG00000068903	ENSG00000068903			10886	protein-coding gene	gene with protein product		604480	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 2"", ""sirtuin (silent mating type information regulation 2 homolog) 2 (S. cerevisiae)"""	SIR2L		10393250, 10381378	Standard	NM_012237		Approved		uc002ojt.2	Q8IXJ6	OTTHUMG00000150480	ENST00000249396.7:c.902delT	19.37:g.39370317delA	ENSP00000249396:p.Met301fs					RINL_uc002ojq.3_5'Flank|RINL_uc010xuo.2_5'Flank|SIRT2_uc010egi.2_Frame_Shift_Del_p.M264fs|SIRT2_uc002ojs.2_Frame_Shift_Del_p.M281fs|SIRT2_uc002oju.2_Frame_Shift_Del_p.M264fs|SIRT2_uc010egh.2_Intron|SIRT2_uc002ojv.2_Frame_Shift_Del_p.M299fs	p.M301fs	NM_012237	NP_085096	Q8IXJ6	SIRT2_HUMAN	Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)		13	1243	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		301			Deacetylase sirtuin-type.		A8K3V1|B2RB45|O95889|Q924Y7|Q9P0G8|Q9UNT0|Q9Y6E9|U5TP13	Frame_Shift_Del	DEL	ENST00000249396.7	37	c.902delT	CCDS12523.1																																																																																				0.652	SIRT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318278.1			2	4						2	4	---	---	---	---
RAB11FIP2	22841	broad.mit.edu	37	10	119798740	119798740	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr10:119798740delC	ENST00000355624.3	-	3	1447	c.1008delG	c.(1006-1008)atgfs	p.M336fs	RP11-354M20.3_ENST00000451610.2_RNA|RP11-354M20.3_ENST00000417968.4_RNA|RAB11FIP2_ENST00000369199.3_Frame_Shift_Del_p.M336fs	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	336					establishment of cell polarity (GO:0030010)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		AAAATAAATTCATGCTGCTGT	0.343																																						uc009xyz.2																			0		p.S335N(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19						c.(1006-1008)atgfs		Homo sapiens RAB11 family interacting protein 2 (class I) (RAB11FIP2), mRNA.							113.0	117.0	116.0					10																	119798740		2203	4299	6502	SO:0001589	frameshift_variant	22841				protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity	g.chr10:119798740delC	AY037299	CCDS7602.1	10q26.12	2004-07-22			ENSG00000107560	ENSG00000107560			29152	protein-coding gene	gene with protein product		608599				11994279, 10231032	Standard	NM_014904		Approved	KIAA0941, nRip11, Rab11-FIP2	uc001ldj.2	Q7L804	OTTHUMG00000019128	ENST00000355624.3:c.1008delG	10.37:g.119798740delC	ENSP00000347839:p.Met336fs					RAB11FIP2_uc001ldj.2_Frame_Shift_Del_p.M336fs	p.M336fs	NM_014904	NP_055719	Q7L804	RFIP2_HUMAN		all cancers(201;0.0238)	2	1448	-		Colorectal(252;0.235)	336					A6NEI4|Q3I768|Q9Y2F0	Frame_Shift_Del	DEL	ENST00000355624.3	37	c.1008delG	CCDS7602.1																																																																																				0.343	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050583.1	NM_014904		32	70						32	70	---	---	---	---
SIRT2	22933	broad.mit.edu	37	19	39370317	39370317	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr19:39370317delA	ENST00000249396.7	-	14	1203	c.902delT	c.(901-903)atgfs	p.M301fs	SIRT2_ENST00000392081.2_Frame_Shift_Del_p.M264fs|RINL_ENST00000340740.3_5'Flank|RINL_ENST00000598904.1_5'Flank|RINL_ENST00000591812.1_5'Flank|SIRT2_ENST00000358931.5_Intron	NM_012237.3	NP_036369.2	Q8IXJ6	SIR2_HUMAN	sirtuin 2	301	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.|Peptide inhibitor binding.				autophagy (GO:0006914)|cellular lipid catabolic process (GO:0044242)|cellular response to caloric restriction (GO:0061433)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to hypoxia (GO:0071456)|cellular response to molecule of bacterial origin (GO:0071219)|cellular response to oxidative stress (GO:0034599)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|chromatin silencing at telomere (GO:0006348)|gene silencing (GO:0016458)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|innate immune response (GO:0045087)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|myelination in peripheral nervous system (GO:0022011)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)|negative regulation of defense response to bacterium (GO:1900425)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of oligodendrocyte progenitor proliferation (GO:0070446)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cell division (GO:0051781)|positive regulation of DNA binding (GO:0043388)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of meiosis (GO:0045836)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)|protein kinase B signaling (GO:0043491)|regulation of cell cycle (GO:0051726)|regulation of exit from mitosis (GO:0007096)|regulation of myelination (GO:0031641)|regulation of phosphorylation (GO:0042325)|response to redox state (GO:0051775)|ripoptosome assembly involved in necroptotic process (GO:1901026)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)	centriole (GO:0005814)|centrosome (GO:0005813)|chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|glial cell projection (GO:0097386)|juxtaparanode region of axon (GO:0044224)|lateral loop (GO:0043219)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|myelin sheath (GO:0043209)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|spindle (GO:0005819)	chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|NAD-dependent protein deacetylase activity (GO:0034979)|protein deacetylase activity (GO:0033558)|transcription factor binding (GO:0008134)|tubulin deacetylase activity (GO:0042903)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			TCCGAGGCCCATAATCATCCC	0.652																																						uc002ojt.2																			0				endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9						c.(901-903)atgfs		Homo sapiens sirtuin 2 (SIRT2), transcript variant 1, mRNA.							13.0	12.0	13.0					19																	39370317		2197	4295	6492	SO:0001589	frameshift_variant	22933				cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	NAD+ binding|NAD-dependent histone deacetylase activity|histone acetyltransferase binding|histone deacetylase binding|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding	g.chr19:39370317delA	AF083107	CCDS12523.1, CCDS46069.1, CCDS74361.1	19q13	2010-06-25	2010-06-25		ENSG00000068903	ENSG00000068903			10886	protein-coding gene	gene with protein product		604480	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 2"", ""sirtuin (silent mating type information regulation 2 homolog) 2 (S. cerevisiae)"""	SIR2L		10393250, 10381378	Standard	NM_012237		Approved		uc002ojt.2	Q8IXJ6	OTTHUMG00000150480	ENST00000249396.7:c.902delT	19.37:g.39370317delA	ENSP00000249396:p.Met301fs					RINL_uc002ojq.3_5'Flank|RINL_uc010xuo.2_5'Flank|SIRT2_uc010egi.2_Frame_Shift_Del_p.M264fs|SIRT2_uc002ojs.2_Frame_Shift_Del_p.M281fs|SIRT2_uc002oju.2_Frame_Shift_Del_p.M264fs|SIRT2_uc010egh.2_Intron|SIRT2_uc002ojv.2_Frame_Shift_Del_p.M299fs	p.M301fs	NM_012237	NP_085096	Q8IXJ6	SIRT2_HUMAN	Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)		13	1243	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		301			Deacetylase sirtuin-type.		A8K3V1|B2RB45|O95889|Q924Y7|Q9P0G8|Q9UNT0|Q9Y6E9|U5TP13	Frame_Shift_Del	DEL	ENST00000249396.7	37	c.902delT	CCDS12523.1																																																																																				0.652	SIRT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318278.1			2	4						2	4	---	---	---	---
