#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
C17orf80	55028	broad.mit.edu	37	17	71232151	71232151	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr17:71232151C>T	ENST00000535032.2	+	2	643	c.530C>T	c.(529-531)tCa>tTa	p.S177L	C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000268942.8_Missense_Mutation_p.S177L|C17orf80_ENST00000577615.1_Missense_Mutation_p.S177L|C17orf80_ENST00000255557.4_Missense_Mutation_p.S177L|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000359042.2_Missense_Mutation_p.S177L|C17orf80_ENST00000426147.2_Missense_Mutation_p.S177L			Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	177						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			CTGGTTGGCTCAATAGAACCT	0.378																																						ENST00000359042.2																			0				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14						c.(529-531)tCa>tTa		chromosome 17 open reading frame 80							77.0	81.0	80.0					17																	71232151		2203	4300	6503	SO:0001583	missense	55028					integral to membrane		g.chr17:71232151C>T	AY163812	CCDS11694.1, CCDS42377.1, CCDS45767.1, CCDS74145.1	17q25.1	2012-02-24	2012-02-24	2012-02-24	ENSG00000141219	ENSG00000141219			29601	protein-coding gene	gene with protein product	"""sperm-expressed protein 1"", ""migration-inducing protein 3"""					12477932	Standard	NM_017941		Approved	HLC-8, MIG3, FLJ20721, SPEP1	uc002jjl.4	Q9BSJ5		ENST00000535032.2:c.530C>T	17.37:g.71232151C>T	ENSP00000440551:p.Ser177Leu					FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000268942.8_Missense_Mutation_p.S177L|C17orf80_ENST00000577615.1_Missense_Mutation_p.S177L|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000426147.2_Missense_Mutation_p.S177L|C17orf80_ENST00000535032.2_Missense_Mutation_p.S177L|C17orf80_ENST00000255557.4_Missense_Mutation_p.S177L	p.S177L	NM_017941.4	NP_060411.2	Q9BSJ5	CQ080_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		3	724	+			177					A8K9X3|Q5JB45|Q6YAU3|Q9H0L9|Q9H5E6|Q9NWN5	Missense_Mutation	SNP	ENST00000535032.2	37	c.530C>T	CCDS11694.1	.	.	.	.	.	.	.	.	.	.	C	31	5.073459	0.94000	.	.	ENSG00000141219	ENST00000255557;ENST00000359042;ENST00000268942;ENST00000426147;ENST00000535032	T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58	4.81	4.81	0.61882	.	0.667620	0.13391	N	0.391427	T	0.38825	0.1055	L	0.38175	1.15	0.25570	N	0.986902	P;P;D;D	0.57899	0.949;0.949;0.976;0.981	P;P;P;P	0.54174	0.52;0.6;0.743;0.744	T	0.20672	-1.0268	10	0.72032	D	0.01	-6.4758	13.7689	0.63012	0.0:1.0:0.0:0.0	.	177;177;177;177	B7Z7E5;Q9BSJ5;Q9BSJ5-2;Q9BSJ5-3	.;CQ080_HUMAN;.;.	L	177	ENSP00000255557:S177L;ENSP00000351937:S177L;ENSP00000268942:S177L;ENSP00000396970:S177L;ENSP00000440551:S177L	ENSP00000255557:S177L	S	+	2	0	C17orf80	68743746	0.000000	0.05858	0.065000	0.19835	0.891000	0.51852	0.383000	0.20651	2.376000	0.81061	0.561000	0.74099	TCA		0.378	C17orf80-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441893.1	NM_017941		11	59	0	0	0	1	0	11	59				
RP11-467H10.2	0	broad.mit.edu	37	7	76681226	76681226	+	RNA	SNP	G	G	C	rs200475663	byFrequency	TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr7:76681226G>C	ENST00000459742.1	+	0	58																											TGTCACACTTGAAGGAGGCAG	0.453																																						ENST00000459742.1																			0																																																			0							g.chr7:76681226G>C																													7.37:g.76681226G>C														0	58	+									RNA	SNP	ENST00000459742.1	37																																																																																						0.453	RP11-467H10.2-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473089.1			2	5	0	0	0	1	0	2	5				
GPR115	221393	broad.mit.edu	37	6	47682675	47682675	+	Missense_Mutation	SNP	C	C	T	rs140641930	byFrequency	TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr6:47682675C>T	ENST00000283303.2	+	6	1952	c.1694C>T	c.(1693-1695)cCg>cTg	p.P565L	GPR115_ENST00000327753.3_Missense_Mutation_p.P565L|GPR115_ENST00000371220.1_Missense_Mutation_p.P622L|RN7SKP116_ENST00000516902.1_RNA	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	565					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TTTGCCATCCCGGCGTTCGTC	0.488																																					GBM(22;431 510 9010 26644 32828)	ENST00000283303.2																			0				NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						c.(1693-1695)cCg>cTg		G protein-coupled receptor 115		C	LEU/PRO	2,4404	4.2+/-10.8	0,2,2201	129.0	128.0	128.0		1694	5.2	1.0	6	dbSNP_134	128	0,8600		0,0,4300	no	missense	GPR115	NM_153838.3	98	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	565/696	47682675	2,13004	2203	4300	6503	SO:0001583	missense	221393				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47682675C>T	AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.1694C>T	6.37:g.47682675C>T	ENSP00000283303:p.Pro565Leu					GPR115_ENST00000327753.3_Missense_Mutation_p.P565L|GPR115_ENST00000371220.1_Missense_Mutation_p.P622L	p.P565L	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN			6	1952	+			565					B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Missense_Mutation	SNP	ENST00000283303.2	37	c.1694C>T	CCDS4922.2	.	.	.	.	.	.	.	.	.	.	C	16.27	3.075107	0.55646	4.54E-4	0.0	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	T;T;T	0.56103	0.48;0.48;0.48	5.24	5.24	0.73138	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000001	T	0.75975	0.3923	M	0.91090	3.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81709	-0.0809	10	0.87932	D	0	-13.8982	18.158	0.89700	0.0:1.0:0.0:0.0	.	565	Q8IZF3	GP115_HUMAN	L	622;565;565	ENSP00000360264:P622L;ENSP00000328319:P565L;ENSP00000283303:P565L	ENSP00000283303:P565L	P	+	2	0	GPR115	47790634	1.000000	0.71417	1.000000	0.80357	0.007000	0.05969	7.745000	0.85046	2.593000	0.87608	0.655000	0.94253	CCG		0.488	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838		38	76	0	0	0	1	0	38	76				
ZNF57	126295	broad.mit.edu	37	19	2917857	2917857	+	Missense_Mutation	SNP	C	C	T	rs148390269		TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr19:2917857C>T	ENST00000306908.5	+	4	1386	c.1238C>T	c.(1237-1239)aCg>aTg	p.T413M	AC006277.2_ENST00000520090.2_RNA|ZNF57_ENST00000523428.1_Missense_Mutation_p.T381M	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	413					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		CATTTGAGGACGCACACTGGA	0.438													C|||	1	0.000199681	0.0	0.0014	5008	,	,		22852	0.0		0.0	False		,,,				2504	0.0				NSCLC(150;910 1964 4303 10464 26498)	ENST00000306908.5																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1237-1239)aCg>aTg		zinc finger protein 57							100.0	90.0	93.0					19																	2917857		2203	4300	6503	SO:0001583	missense	126295				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2917857C>T	M88368	CCDS12098.1	19p13.3	2013-01-08			ENSG00000171970	ENSG00000171970		"""Zinc fingers, C2H2-type"", ""-"""	13125	protein-coding gene	gene with protein product			"""zinc finger protein 424"""	ZNF424		1505991	Standard	NM_173480		Approved		uc002lwr.3	Q68EA5	OTTHUMG00000164485	ENST00000306908.5:c.1238C>T	19.37:g.2917857C>T	ENSP00000303696:p.Thr413Met					ZNF57_ENST00000523428.1_Missense_Mutation_p.T381M|AC006277.2_ENST00000520090.2_RNA	p.T413M	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1386	+			413					Q8N6R9	Missense_Mutation	SNP	ENST00000306908.5	37	c.1238C>T	CCDS12098.1	.	.	.	.	.	.	.	.	.	.	C	9.937	1.216517	0.22373	.	.	ENSG00000171970	ENST00000306908;ENST00000395204;ENST00000523428	T;T	0.13089	2.62;2.62	2.08	-2.04	0.07343	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17577	0.0422	L	0.50847	1.595	0.09310	N	1	D	0.57899	0.981	P	0.52343	0.696	T	0.15665	-1.0429	9	0.52906	T	0.07	.	6.5785	0.22581	0.0:0.5038:0.0:0.4962	.	413	Q68EA5	ZNF57_HUMAN	M	413;415;381	ENSP00000303696:T413M;ENSP00000430223:T381M	ENSP00000303696:T413M	T	+	2	0	ZNF57	2868857	0.000000	0.05858	0.001000	0.08648	0.023000	0.10783	-4.310000	0.00255	-0.255000	0.09486	-0.424000	0.05967	ACG		0.438	ZNF57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378969.1	NM_173480		5	79	0	0	0	1	0	5	79				
R3HDML	140902	broad.mit.edu	37	20	42972025	42972025	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr20:42972025C>A	ENST00000217043.2	+	3	561	c.389C>A	c.(388-390)tCc>tAc	p.S130Y	Y_RNA_ENST00000364493.1_RNA	NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like	130	SCP.					extracellular region (GO:0005576)	peptidase inhibitor activity (GO:0030414)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			AGGTACCGGTCCGTAGTGGAT	0.597																																						ENST00000217043.2																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21						c.(388-390)tCc>tAc		R3H domain containing-like							105.0	74.0	84.0					20																	42972025		2203	4300	6503	SO:0001583	missense	140902					extracellular region	peptidase inhibitor activity	g.chr20:42972025C>A	BC107048	CCDS13329.1	20q13.12	2007-04-26	2005-09-02		ENSG00000101074	ENSG00000101074			16249	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing-like"""				Standard	NM_178491		Approved	dJ881L22.3	uc002xls.2	Q9H3Y0	OTTHUMG00000032524	ENST00000217043.2:c.389C>A	20.37:g.42972025C>A	ENSP00000217043:p.Ser130Tyr						p.S130Y	NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		3	561	+		Myeloproliferative disorder(115;0.028)	130						Missense_Mutation	SNP	ENST00000217043.2	37	c.389C>A	CCDS13329.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.961284	0.34565	.	.	ENSG00000101074	ENST00000217043	T	0.10005	2.92	4.98	2.99	0.34606	CAP domain (3);	0.150631	0.45606	D	0.000345	T	0.39200	0.1069	H	0.94698	3.57	0.49582	D	0.999806	D	0.54047	0.964	P	0.58077	0.832	T	0.59032	-0.7530	10	0.87932	D	0	.	15.0867	0.72158	0.0:0.7304:0.2696:0.0	.	130	Q9H3Y0	CRSPL_HUMAN	Y	130	ENSP00000217043:S130Y	ENSP00000217043:S130Y	S	+	2	0	R3HDML	42405439	1.000000	0.71417	0.195000	0.23364	0.002000	0.02628	6.709000	0.74665	0.584000	0.29591	-0.172000	0.13284	TCC		0.597	R3HDML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079344.1	NM_178491		4	42	1	0	1	1	1	4	42				
PCDHB15	56121	broad.mit.edu	37	5	140625165	140625165	+	Missense_Mutation	SNP	C	C	T	rs147410183		TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr5:140625165C>T	ENST00000231173.3	+	1	19	c.19C>T	c.(19-21)Cgc>Tgc	p.R7C		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	7					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCAGGGGAGCGCTTTCCCGA	0.537																																						ENST00000231173.3																			0				NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61						c.(19-21)Cgc>Tgc									52.0	57.0	56.0					5																	140625165		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140625165C>T	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.19C>T	5.37:g.140625165C>T	ENSP00000231173:p.Arg7Cys						p.R7C	NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	19	+			7					Q8IUX5	Missense_Mutation	SNP	ENST00000231173.3	37	c.19C>T	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.339378	0.41398	.	.	ENSG00000113248	ENST00000231173	T	0.52754	0.65	5.35	0.496	0.16896	.	.	.	.	.	T	0.27063	0.0663	L	0.28274	0.84	0.09310	N	1	B	0.22003	0.063	B	0.11329	0.006	T	0.17745	-1.0359	9	0.33141	T	0.24	.	1.2337	0.01949	0.2693:0.4026:0.1333:0.1948	.	7	Q9Y5E8	PCDBF_HUMAN	C	7	ENSP00000231173:R7C	ENSP00000231173:R7C	R	+	1	0	PCDHB15	140605349	0.000000	0.05858	0.001000	0.08648	0.439000	0.31926	-0.221000	0.09202	0.144000	0.18951	0.491000	0.48974	CGC		0.537	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		12	21	0	0	0	1	0	12	21				
APEH	327	broad.mit.edu	37	3	49721883	49721883	+	IGR	SNP	G	G	T	rs532706844		TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr3:49721883G>T	ENST00000296456.5	+	0	3220				MST1_ENST00000494828.2_5'Flank|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000449682.2_Missense_Mutation_p.T627K	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GTCATTACCCGTACCTGCAGT	0.577																																						ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1879-1881)aCg>aAg		macrophage stimulating 1 (hepatocyte growth factor-like)							71.0	75.0	74.0					3																	49721883		2203	4299	6502	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49721883G>T	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49721883G>T							p.T627K	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	17	2241	-			613			Peptidase S1.		Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.1880C>A	CCDS2801.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.05|11.05	1.525219|1.525219	0.27299|0.27299	.|.	.|.	ENSG00000173531|ENSG00000173531	ENST00000449682|ENST00000448220	D|.	0.88046|.	-2.33|.	5.13|5.13	4.26|4.26	0.50523|0.50523	.|.	0.000000|.	0.43579|.	D|.	0.000543|.	T|.	0.61489|.	0.2351|.	L|L	0.49350|0.49350	1.555|1.555	0.80722|0.80722	D|D	1|1	P|.	0.40476|.	0.718|.	B|.	0.29716|.	0.106|.	T|.	0.59139|.	-0.7510|.	10|.	0.59425|.	D|.	0.04|.	.|.	13.7055|13.7055	0.62636|0.62636	0.0748:0.0:0.9252:0.0|0.0748:0.0:0.9252:0.0	.|.	627|.	G3XAK1|.	.|.	K|X	627|96	ENSP00000414287:T627K|.	ENSP00000414287:T627K|.	T|Y	-|-	2|3	0|2	MST1|MST1	49696887|49696887	0.998000|0.998000	0.40836|0.40836	0.135000|0.135000	0.22099|0.22099	0.190000|0.190000	0.23558|0.23558	2.811000|2.811000	0.47986|0.47986	1.298000|1.298000	0.44778|0.44778	0.561000|0.561000	0.74099|0.74099	ACG|TAC		0.577	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			5	77	1	0	0.014758	1	0.0158718	5	77				
DNMT3B	1789	broad.mit.edu	37	20	31386422	31386422	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr20:31386422C>A	ENST00000328111.2	+	15	1968	c.1647C>A	c.(1645-1647)ttC>ttA	p.F549L	DNMT3B_ENST00000344505.4_Missense_Mutation_p.F529L|DNMT3B_ENST00000353855.2_Missense_Mutation_p.F529L|DNMT3B_ENST00000201963.3_Missense_Mutation_p.F541L|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000443239.3_Missense_Mutation_p.F487L|DNMT3B_ENST00000456297.2_Missense_Mutation_p.F453L|DNMT3B_ENST00000348286.2_Missense_Mutation_p.F529L	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	549	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGCAGGCCTTCTTCACCAGTG	0.607																																						ENST00000328111.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1645-1647)ttC>ttA		DNA (cytosine-5-)-methyltransferase 3 beta							40.0	45.0	43.0					20																	31386422		2203	4300	6503	SO:0001583	missense	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31386422C>A		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1647C>A	20.37:g.31386422C>A	ENSP00000328547:p.Phe549Leu					DNMT3B_ENST00000456297.2_Missense_Mutation_p.F453L|DNMT3B_ENST00000353855.2_Missense_Mutation_p.F529L|DNMT3B_ENST00000348286.2_Missense_Mutation_p.F529L|DNMT3B_ENST00000201963.3_Missense_Mutation_p.F541L|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000443239.3_Missense_Mutation_p.F487L|DNMT3B_ENST00000344505.4_Missense_Mutation_p.F529L	p.F549L	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN			15	1968	+			549			ADD.		A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	37	c.1647C>A	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.558998	0.65538	.	.	ENSG00000088305	ENST00000328111;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000201963	T;T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	5.76	3.81	0.43845	.	0.000000	0.85682	D	0.000000	T	0.71126	0.3303	L	0.46947	1.48	0.80722	D	1	B;P;P;B;P;B;P	0.38767	0.261;0.646;0.456;0.087;0.639;0.087;0.534	B;B;B;B;B;B;B	0.42593	0.256;0.392;0.189;0.202;0.26;0.202;0.246	T	0.68812	-0.5310	10	0.37606	T	0.19	-33.4651	7.5147	0.27593	0.1364:0.7185:0.0:0.1452	.	453;487;248;541;529;529;549	E9PBF2;E7EN63;B3KM53;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;.;.;DNM3B_HUMAN	L	549;529;529;487;453;529;541	ENSP00000328547:F549L;ENSP00000313397:F529L;ENSP00000337764:F529L;ENSP00000403169:F487L;ENSP00000412305:F453L;ENSP00000345105:F529L;ENSP00000201963:F541L	ENSP00000201963:F541L	F	+	3	2	DNMT3B	30850083	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.031000	0.41117	1.575000	0.49775	0.650000	0.86243	TTC		0.607	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		6	36	1	0	0.217242	1	0.225142	6	36				
IFT52	51098	broad.mit.edu	37	20	42242496	42242496	+	Silent	SNP	C	C	A			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr20:42242496C>A	ENST00000373030.3	+	7	622	c.492C>A	c.(490-492)ctC>ctA	p.L164L	IFT52_ENST00000373039.4_Silent_p.L164L	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52	164					cilium morphogenesis (GO:0060271)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube formation (GO:0001841)|regulation of protein processing (GO:0070613)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)	protein C-terminus binding (GO:0008022)			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ACAGGGCTCTCACCTTTGTGT	0.363																																						ENST00000373030.3																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21						c.(490-492)ctC>ctA		intraflagellar transport 52 homolog (Chlamydomonas)							104.0	99.0	100.0					20																	42242496		2203	4300	6503	SO:0001819	synonymous_variant	51098					intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding	g.chr20:42242496C>A	AF151811	CCDS33470.1	20q12-q13.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000101052	ENSG00000101052		"""Intraflagellar transport homologs"""	15901	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 9"", ""intraflagellar transport 52 homolog (Chlamydomonas)"""	C20orf9		10810093	Standard	NM_016004		Approved	CGI-53, NGD5, dJ1028D15.1, NGD2	uc002xkw.3	Q9Y366	OTTHUMG00000032513	ENST00000373030.3:c.492C>A	20.37:g.42242496C>A						IFT52_ENST00000373039.4_Silent_p.L164L	p.L164L	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		7	622	+		Myeloproliferative disorder(115;0.00452)	164					B3KMA1|E1P5W9|Q5H8Z0|Q9H1G3|Q9H1G4|Q9H1H2	Silent	SNP	ENST00000373030.3	37	c.492C>A	CCDS33470.1																																																																																				0.363	IFT52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079317.1	NM_016004		9	71	1	0	1.76689e-08	1	2.14283e-08	9	71				
SERPINA3	12	broad.mit.edu	37	14	95081101	95081101	+	Missense_Mutation	SNP	C	C	T	rs375245228		TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr14:95081101C>T	ENST00000467132.1	+	2	1471	c.323C>T	c.(322-324)aCg>aTg	p.T108M	SERPINA3_ENST00000393080.4_Missense_Mutation_p.T108M|SERPINA3_ENST00000393078.3_Missense_Mutation_p.T108M|RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000482740.1_5'Flank			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	108					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.T108M(1)		NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		TTCAACCTCACGGAGACTTCT	0.552																																						ENST00000553947.1																			1	Substitution - Missense(1)	p.T108M(1)	large_intestine(1)	NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40						c.(397-399)aCg>aTg		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3		C	MET/THR	0,4406		0,0,2203	64.0	66.0	65.0		323	3.1	0.7	14		65	4,8596	3.7+/-12.6	0,4,4296	no	missense	SERPINA3	NM_001085.4	81	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging	108/424	95081101	4,13002	2203	4300	6503	SO:0001583	missense	12				acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	g.chr14:95081101C>T	K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136		"""Serine (or cysteine) peptidase inhibitors"""	16	protein-coding gene	gene with protein product		107280	"""alpha-1-antichymotrypsin"", ""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"""	AACT		3260956, 24172014	Standard	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	ENST00000467132.1:c.323C>T	14.37:g.95081101C>T	ENSP00000450540:p.Thr108Met					SERPINA3_ENST00000393078.3_Missense_Mutation_p.T108M|SERPINA3_ENST00000556388.1_Intron|SERPINA3_ENST00000467132.1_Missense_Mutation_p.T108M|SERPINA3_ENST00000393080.4_Missense_Mutation_p.T108M	p.T133M			P01011	AACT_HUMAN		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)	5	1286	+		all_cancers(154;0.0525)|all_epithelial(191;0.179)	108					B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Missense_Mutation	SNP	ENST00000467132.1	37	c.398C>T	CCDS32150.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.235029	0.39498	0.0	4.65E-4	ENSG00000196136	ENST00000553947;ENST00000393078;ENST00000393080;ENST00000555820;ENST00000467132	D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41	5.03	3.07	0.35406	Serpin domain (3);	0.164548	0.41396	N	0.000884	D	0.93086	0.7799	M	0.83692	2.655	0.28931	N	0.891554	D;P	0.63880	0.993;0.912	D;P	0.67548	0.952;0.542	D	0.87687	0.2551	10	0.87932	D	0	.	8.7412	0.34558	0.1496:0.7705:0.0:0.08	.	108;133	P01011;G3V5I3	AACT_HUMAN;.	M	133;108;108;108;108	ENSP00000452367:T133M;ENSP00000376793:T108M;ENSP00000376795:T108M;ENSP00000450540:T108M	ENSP00000376793:T108M	T	+	2	0	SERPINA3	94150854	0.051000	0.20477	0.696000	0.30242	0.124000	0.20399	1.399000	0.34566	1.235000	0.43724	0.561000	0.74099	ACG		0.552	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268080.3	NM_001085		28	32	0	0	0	1	0	28	32				
C3orf17	25871	broad.mit.edu	37	3	112732171	112732171	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr3:112732171C>A	ENST00000314400.5	-	4	612	c.421G>T	c.(421-423)Gga>Tga	p.G141*	C3orf17_ENST00000383675.2_Intron|C3orf17_ENST00000472762.1_5'Flank|C3orf17_ENST00000393857.2_Nonsense_Mutation_p.G5*	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	141					negative regulation of neuron differentiation (GO:0045665)|positive regulation of Notch signaling pathway (GO:0045747)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						TTGCAGGCTCCCAAAACCTTC	0.398																																						ENST00000314400.5																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						c.(421-423)Gga>Tga		chromosome 3 open reading frame 17							119.0	125.0	123.0					3																	112732171		2203	4300	6503	SO:0001587	stop_gained	25871					integral to membrane		g.chr3:112732171C>A	AL117573	CCDS33824.1	3q13.2	2009-11-06			ENSG00000163608	ENSG00000163608			24496	protein-coding gene	gene with protein product						12477932	Standard	NR_027794		Approved	DKFZP434F2021, NET17	uc003dzr.3	Q6NW34	OTTHUMG00000159286	ENST00000314400.5:c.421G>T	3.37:g.112732171C>A	ENSP00000320251:p.Gly141*					C3orf17_ENST00000393857.2_Nonsense_Mutation_p.G5*|C3orf17_ENST00000383675.2_Intron	p.G141*	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN			4	612	-			141					D3DN69|Q68DM6|Q9H7U0|Q9UFM4	Nonsense_Mutation	SNP	ENST00000314400.5	37	c.421G>T	CCDS33824.1	.	.	.	.	.	.	.	.	.	.	C	36	5.893511	0.97074	.	.	ENSG00000163608	ENST00000314400;ENST00000393857;ENST00000472166	.	.	.	5.9	5.03	0.67393	.	0.145454	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.1557	12.2924	0.54825	0.0:0.9207:0.0:0.0793	.	.	.	.	X	141;5;66	.	ENSP00000320251:G141X	G	-	1	0	C3orf17	114214861	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.386000	0.66238	1.509000	0.48786	0.655000	0.94253	GGA		0.398	C3orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354405.3	NM_015412		4	71	1	0	0.000602214	1	0.000673063	4	71				
FBXO45	200933	broad.mit.edu	37	3	196311181	196311181	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr3:196311181G>T	ENST00000311630.6	+	3	1150	c.853G>T	c.(853-855)Gac>Tac	p.D285Y	FBXO45_ENST00000440469.1_Missense_Mutation_p.D106Y	NM_001105573.1	NP_001099043.1	P0C2W1	FBSP1_HUMAN	F-box protein 45	285					anterior commissure morphogenesis (GO:0021960)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|corticospinal tract morphogenesis (GO:0021957)|neuron migration (GO:0001764)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|synapse assembly involved in innervation (GO:0060386)	cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		AAAACCTTTGGACGGATGACA	0.448																																						ENST00000311630.6																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(853-855)Gac>Tac		F-box protein 45							97.0	93.0	94.0					3																	196311181		1933	4145	6078	SO:0001583	missense	200933				nervous system development|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	cell junction|postsynaptic membrane|presynaptic membrane	protein binding	g.chr3:196311181G>T	AK025697	CCDS46985.1	3q29	2008-02-05			ENSG00000174013	ENSG00000174013		"""F-boxes /  ""other"""""	29148	protein-coding gene	gene with protein product		609112					Standard	NM_001105573		Approved	Fbx45	uc010iai.3	P0C2W1	OTTHUMG00000155571	ENST00000311630.6:c.853G>T	3.37:g.196311181G>T	ENSP00000310332:p.Asp285Tyr					FBXO45_ENST00000440469.1_Missense_Mutation_p.D106Y	p.D285Y	NM_001105573.1	NP_001099043.1	P0C2W1	FBSP1_HUMAN	Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)	3	1150	+	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		285					A6NF90|D3DXB5	Missense_Mutation	SNP	ENST00000311630.6	37	c.853G>T	CCDS46985.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.639019	0.47153	.	.	ENSG00000174013	ENST00000440469;ENST00000311630	T	0.47869	0.83	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.50377	0.1612	M	0.65975	2.015	0.80722	D	1	P	0.47106	0.89	B	0.41174	0.349	T	0.56202	-0.8018	10	0.45353	T	0.12	-11.3425	18.7709	0.91892	0.0:0.0:1.0:0.0	.	285	P0C2W1	FBSP1_HUMAN	Y	106;285	ENSP00000310332:D285Y	ENSP00000310332:D285Y	D	+	1	0	FBXO45	197795578	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	8.985000	0.93487	2.740000	0.93945	0.563000	0.77884	GAC		0.448	FBXO45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340687.2			12	24	1	0	1.61879e-10	1	2.00589e-10	12	24				
ZNF117	51351	broad.mit.edu	37	7	64438887	64438887	+	Silent	SNP	A	A	G			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr7:64438887A>G	ENST00000282869.6	-	4	2346	c.1062T>C	c.(1060-1062)atT>atC	p.I354I		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	354					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				CTCCAGTATGAATTACCTTAT	0.388																																						ENST00000282869.5																			0				breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22						c.(1060-1062)atT>atC		zinc finger protein 117							66.0	70.0	69.0					7																	64438887		2153	4275	6428	SO:0001819	synonymous_variant	51351					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:64438887A>G	M27879	CCDS43593.1	7q11.2	2013-01-08	2006-06-12		ENSG00000152926	ENSG00000152926		"""Zinc fingers, C2H2-type"""	12897	protein-coding gene	gene with protein product		194624	"""zinc finger protein 117 (HPF9)"""			1427907	Standard	NM_015852		Approved	HPF9, H-plk	uc003ttr.2	Q03924	OTTHUMG00000156631	ENST00000282869.6:c.1062T>C	7.37:g.64438887A>G							p.I354I	NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN			4	2346	-		Lung NSC(55;0.0295)|all_lung(88;0.0691)	354					Q02313|Q7Z7Q7	Silent	SNP	ENST00000282869.6	37	c.1062T>C	CCDS43593.1																																																																																				0.388	ZNF117-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344863.3	NM_024498		7	106	0	0	0	1	0	7	106				
MTMR14	64419	broad.mit.edu	37	3	9712766	9712766	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr3:9712766G>A	ENST00000296003.4	+	6	711	c.589G>A	c.(589-591)Ggc>Agc	p.G197S	MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000351233.5_Missense_Mutation_p.G197S|MTMR14_ENST00000353332.5_Missense_Mutation_p.G197S	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	197					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					TAAGGTCAGAGGCTATGACAT	0.468																																						ENST00000296003.4																			0				breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21						c.(589-591)Ggc>Agc		myotubularin related protein 14							142.0	135.0	137.0					3																	9712766		1997	4179	6176	SO:0001583	missense	64419					perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chr3:9712766G>A	BC001674	CCDS43043.1, CCDS43044.1, CCDS43045.1	3p26	2011-06-09	2006-12-18	2006-12-18	ENSG00000163719	ENSG00000163719		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	26190	protein-coding gene	gene with protein product	"""egg-derived tyrosine phosphatase homolog (Drosophila)"""	611089	"""chromosome 3 open reading frame 29"""	C3orf29		15186772	Standard	NM_022485		Approved	FLJ22405, FLJ90311, hJumpy, hEDTP	uc003brz.3	Q8NCE2	OTTHUMG00000155111	ENST00000296003.4:c.589G>A	3.37:g.9712766G>A	ENSP00000296003:p.Gly197Ser					MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000353332.5_Missense_Mutation_p.G197S|MTMR14_ENST00000351233.5_Missense_Mutation_p.G197S	p.G197S	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN			6	711	+	Medulloblastoma(99;0.227)		197					Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	Missense_Mutation	SNP	ENST00000296003.4	37	c.589G>A	CCDS43043.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.287422	0.80803	.	.	ENSG00000163719	ENST00000353332;ENST00000296003;ENST00000351233;ENST00000419048	D;D;D	0.89939	-2.59;-2.59;-2.59	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.92153	0.7512	L	0.43757	1.38	0.80722	D	1	D;P;P	0.89917	1.0;0.84;0.517	D;B;B	0.91635	0.999;0.284;0.154	D	0.88515	0.3092	10	0.18710	T	0.47	-10.2993	19.9089	0.97019	0.0:0.0:1.0:0.0	.	197;197;197	Q8NCE2-3;Q8NCE2-2;Q8NCE2	.;.;MTMRE_HUMAN	S	197	ENSP00000323462:G197S;ENSP00000296003:G197S;ENSP00000334070:G197S	ENSP00000296003:G197S	G	+	1	0	MTMR14	9687766	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.893000	0.92498	2.793000	0.96121	0.655000	0.94253	GGC		0.468	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338435.1	NM_022485		4	104	0	0	0	1	0	4	104				
ZFP36	7538	broad.mit.edu	37	19	39899003	39899003	+	Silent	SNP	C	C	G	rs149138506		TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr19:39899003C>G	ENST00000248673.3	+	2	703	c.645C>G	c.(643-645)ccC>ccG	p.P215P	ZFP36_ENST00000597629.1_Silent_p.P221P|MIR4530_ENST00000581459.1_RNA	NM_003407.3	NP_003398.2	P26651	TTP_HUMAN	ZFP36 ring finger protein	215					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of inflammatory response (GO:0050728)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of tumor necrosis factor production (GO:0032680)|response to starvation (GO:0042594)|RNA destabilization (GO:0050779)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|AU-rich element binding (GO:0017091)|C-C chemokine binding (GO:0019957)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCTTCTCGCCCTCCAGCTCCC	0.692																																					NSCLC(67;1164 1324 12056 21056 30097)	ENST00000597629.1																			0				large_intestine(1)|lung(5)|pancreas(1)	7						c.(661-663)ccC>ccG		ZFP36 ring finger protein		C		1,4399		0,1,2199	55.0	64.0	61.0		645	-2.5	0.9	19	dbSNP_134	61	0,8594		0,0,4297	no	coding-synonymous	ZFP36	NM_003407.2		0,1,6496	GG,GC,CC		0.0,0.0227,0.0077		215/327	39899003	1,12993	2200	4297	6497	SO:0001819	synonymous_variant	7538				positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding	g.chr19:39899003C>G	M63625	CCDS12534.1, CCDS12534.2	19q13.1	2012-11-27	2012-11-27			ENSG00000128016		"""RING-type (C3HC4) zinc fingers"""	12862	protein-coding gene	gene with protein product		190700	"""zinc finger protein 36, C3H type, homolog (mouse)"""			1699942	Standard	NM_003407		Approved	RNF162A, TIS11, G0S24, TTP, NUP475, tristetraprolin	uc002olh.2	P26651		ENST00000248673.3:c.645C>G	19.37:g.39899003C>G						ZFP36_ENST00000248673.3_Silent_p.P215P	p.P221P			P26651	TTP_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		2	737	+	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		215					B2RA54	Silent	SNP	ENST00000248673.3	37	c.663C>G																																																																																					0.692	ZFP36-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				42	72	0	0	0	1	0	42	72				
CCNK	8812	broad.mit.edu	37	14	99969193	99969193	+	Missense_Mutation	SNP	C	C	G			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr14:99969193C>G	ENST00000389879.5	+	8	1006	c.883C>G	c.(883-885)Caa>Gaa	p.Q295E	CCNK_ENST00000555049.1_Missense_Mutation_p.Q295E	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN	cyclin K	295					cellular response to DNA damage stimulus (GO:0006974)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of cell cycle arrest (GO:0071157)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cyclin K-CDK12 complex (GO:0002944)|cyclin K-CDK13 complex (GO:0002945)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				ACAGCCGTCTCAAAGCTCCGA	0.602																																						ENST00000389879.5																			0				NS(1)|endometrium(2)|lung(3)	6						c.(883-885)Caa>Gaa		cyclin K							103.0	133.0	123.0					14																	99969193		2141	4254	6395	SO:0001583	missense	8812				cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein kinase binding	g.chr14:99969193C>G	AF060515	CCDS45160.1	14q32.2	2014-07-03			ENSG00000090061	ENSG00000090061			1596	protein-coding gene	gene with protein product		603544				9632813, 10574912	Standard	NM_001099402		Approved	CPR4	uc001ygi.4	O75909	OTTHUMG00000171495	ENST00000389879.5:c.883C>G	14.37:g.99969193C>G	ENSP00000374529:p.Gln295Glu					CCNK_ENST00000555049.1_Missense_Mutation_p.Q295E	p.Q295E	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN			8	1006	+		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)	295					Q59FT6|Q86U16|Q96B63|Q9NNY9	Missense_Mutation	SNP	ENST00000389879.5	37	c.883C>G	CCDS45160.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.154496	0.38021	.	.	ENSG00000090061	ENST00000437596;ENST00000216279;ENST00000380246;ENST00000389879;ENST00000555049	T;D	0.91351	2.22;-2.83	5.71	5.71	0.89125	.	0.420434	0.25543	N	0.029943	D	0.88097	0.6345	L	0.57536	1.79	0.09310	N	0.999998	B;B	0.19200	0.008;0.034	B;B	0.21151	0.016;0.033	T	0.70536	-0.4845	10	0.02654	T	1	-6.046	19.8677	0.96824	0.0:1.0:0.0:0.0	.	295;295	O75909;O75909-2	CCNK_HUMAN;.	E	295;297;297;295;295	ENSP00000374529:Q295E;ENSP00000452307:Q295E	ENSP00000216279:Q297E	Q	+	1	0	CCNK	99038946	0.993000	0.37304	0.010000	0.14722	0.152000	0.21847	5.344000	0.65981	2.709000	0.92574	0.655000	0.94253	CAA		0.602	CCNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413721.1			14	37	0	0	0	1	0	14	37				
ZNF479	90827	broad.mit.edu	37	7	57187780	57187780	+	Missense_Mutation	SNP	A	A	C			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr7:57187780A>C	ENST00000331162.4	-	5	1612	c.1342T>G	c.(1342-1344)Tta>Gta	p.L448V		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	448					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GTTGAGGATAAGCTAAAGGCT	0.438																																						ENST00000331162.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84						c.(1342-1344)Tta>Gta		zinc finger protein 479							47.0	46.0	47.0					7																	57187780		2007	4179	6186	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57187780A>C	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.1342T>G	7.37:g.57187780A>C	ENSP00000333776:p.Leu448Val						p.L448V	NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	1612	-			448						Missense_Mutation	SNP	ENST00000331162.4	37	c.1342T>G	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	a	0.018	-1.480212	0.01027	.	.	ENSG00000185177	ENST00000331162	T	0.08282	3.11	0.955	-1.63	0.08345	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03695	0.0105	N	0.21142	0.635	0.09310	N	1	B	0.29716	0.255	B	0.22152	0.038	T	0.44345	-0.9334	9	0.15952	T	0.53	.	2.0227	0.03513	0.2806:0.0:0.4296:0.2898	.	448	Q96JC4	ZN479_HUMAN	V	448	ENSP00000333776:L448V	ENSP00000333776:L448V	L	-	1	2	ZNF479	57191722	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-9.455000	0.00011	-0.495000	0.06659	-0.505000	0.04504	TTA		0.438	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		5	154	0	0	0	1	0	5	154				
MYH9	4627	broad.mit.edu	37	22	36715609	36715609	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr22:36715609G>A	ENST00000216181.5	-	10	1314	c.1084C>T	c.(1084-1086)Cag>Tag	p.Q362*		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	362	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						ATGGACGCCTGGTCAGTGTTC	0.577			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(1084-1086)Cag>Tag		myosin, heavy chain 9, non-muscle							102.0	84.0	90.0					22																	36715609		2203	4300	6503	SO:0001587	stop_gained	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36715609G>A		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.1084C>T	22.37:g.36715609G>A	ENSP00000216181:p.Gln362*						p.Q362*	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			10	1314	-			362			Myosin head-like.		A8K6E4|O60805|Q60FE2|Q86T83	Nonsense_Mutation	SNP	ENST00000216181.5	37	c.1084C>T	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	G	41	8.967935	0.99019	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	.	.	.	5.23	5.23	0.72850	.	0.131674	0.53938	D	0.000060	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.4837	0.90821	0.0:0.0:1.0:0.0	.	.	.	.	X	226;362	.	ENSP00000216181:Q362X	Q	-	1	0	MYH9	35045555	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.869000	0.99810	2.450000	0.82876	0.650000	0.86243	CAG		0.577	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		8	22	0	0	0	1	0	8	22				
TP53	7157	broad.mit.edu	37	17	7574003	7574003	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr17:7574003G>A	ENST00000269305.4	-	10	1213	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000445888.2_Nonsense_Mutation_p.R342*|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	342	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R342*(70)|p.0?(8)|p.R342fs*3(8)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTCAGCTCTCGGAACATCTCG	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000269305.4		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		89	Substitution - Nonsense(70)|Whole gene deletion(8)|Deletion - Frameshift(7)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1)	p.R342*(70)|p.0?(8)|p.R342fs*3(8)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(1)	breast(16)|upper_aerodigestive_tract(11)|large_intestine(9)|central_nervous_system(9)|ovary(7)|lung(6)|skin(5)|liver(5)|haematopoietic_and_lymphoid_tissue(4)|pancreas(4)|bone(4)|stomach(2)|urinary_tract(2)|oesophagus(2)|kidney(1)|peritoneum(1)|endometrium(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM004908	TP53	M		c.(1024-1026)Cga>Tga	Other conserved DNA damage response genes	tumor protein p53							62.0	48.0	53.0					17																	7574003		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7574003G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.1024C>T	17.37:g.7574003G>A	ENSP00000269305:p.Arg342*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R342*|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR	p.R342*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	10	1213	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	342		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.1024C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	37	6.061927	0.97246	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	.	.	.	5.43	3.43	0.39272	.	0.217683	0.37906	N	0.001893	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-0.3792	6.4477	0.21885	0.0845:0.0:0.5925:0.323	.	.	.	.	X	342;342;331	.	ENSP00000269305:R342X	R	-	1	2	TP53	7514728	0.820000	0.29190	0.702000	0.30337	0.859000	0.49053	2.169000	0.42434	0.657000	0.30906	0.561000	0.74099	CGA		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		8	10	0	0	0	1	0	8	10				
RAI14	26064	broad.mit.edu	37	5	34796092	34796092	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr5:34796092G>T	ENST00000265109.3	+	4	503	c.216G>T	c.(214-216)atG>atT	p.M72I	RAI14_ENST00000397449.1_Missense_Mutation_p.M65I|RAI14_ENST00000515799.1_Missense_Mutation_p.M75I|RAI14_ENST00000512629.1_Missense_Mutation_p.M72I|RAI14_ENST00000506376.1_Missense_Mutation_p.M64I|RAI14_ENST00000428746.2_Missense_Mutation_p.M72I|RAI14_ENST00000503673.1_Missense_Mutation_p.M72I|RAI14_ENST00000507276.1_3'UTR	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	72						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					TCAGGGTCATGATTACACATG	0.428																																						ENST00000265109.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(214-216)atG>atT		retinoic acid induced 14							224.0	196.0	205.0					5																	34796092		2203	4300	6503	SO:0001583	missense	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34796092G>T	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.216G>T	5.37:g.34796092G>T	ENSP00000265109:p.Met72Ile					RAI14_ENST00000428746.2_Missense_Mutation_p.M72I|RAI14_ENST00000503673.1_Missense_Mutation_p.M72I|RAI14_ENST00000512629.1_Missense_Mutation_p.M72I|RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000506376.1_Missense_Mutation_p.M64I|RAI14_ENST00000397449.1_Missense_Mutation_p.M65I|RAI14_ENST00000515799.1_Missense_Mutation_p.M75I	p.M72I	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN			4	503	+	all_lung(31;0.000191)		72					E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	c.216G>T	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.969633	0.92855	.	.	ENSG00000039560	ENST00000265109;ENST00000514527;ENST00000513974;ENST00000512629;ENST00000428746;ENST00000514873;ENST00000503673;ENST00000504052;ENST00000512305;ENST00000514036;ENST00000515799;ENST00000508315;ENST00000512625;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.66460	-0.01;1.49;1.49;-0.01;-0.01;1.49;-0.01;1.49;1.49;1.49;0.74;1.49;-0.21;-0.01;-0.01	6.08	6.08	0.98989	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.64394	0.2594	N	0.04260	-0.245	0.49389	D	0.999788	D;D;D;D	0.59357	0.982;0.985;0.982;0.985	D;D;D;D	0.72338	0.961;0.977;0.961;0.977	T	0.65100	-0.6250	9	0.21540	T	0.41	-19.5816	17.5802	0.87965	0.0:0.0:1.0:0.0	.	64;72;75;72	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	I	72;72;72;72;72;72;72;72;72;72;75;72;72;64;65	ENSP00000265109:M72I;ENSP00000424879:M72I;ENSP00000422112:M72I;ENSP00000422377:M72I;ENSP00000388725:M72I;ENSP00000421424:M72I;ENSP00000422942:M72I;ENSP00000422515:M72I;ENSP00000422114:M72I;ENSP00000424502:M72I;ENSP00000427123:M75I;ENSP00000426770:M72I;ENSP00000425115:M72I;ENSP00000423854:M64I;ENSP00000380591:M65I	ENSP00000265109:M72I	M	+	3	0	RAI14	34831849	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	4.659000	0.61504	2.894000	0.99253	0.655000	0.94253	ATG		0.428	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		5	116	1	0	2.0095e-06	1	2.29083e-06	5	116				
OR2M4	26245	broad.mit.edu	37	1	248402787	248402787	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr1:248402787C>A	ENST00000306687.1	+	1	557	c.557C>A	c.(556-558)cCt>cAt	p.P186H		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	186					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCCCTTTTACCTCTATCCTGC	0.398																																						ENST00000306687.1																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50						c.(556-558)cCt>cAt		olfactory receptor, family 2, subfamily M, member 4							140.0	134.0	136.0					1																	248402787		2203	4300	6503	SO:0001583	missense	26245				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248402787C>A	X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"""GPCR / Class A : Olfactory receptors"""	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.557C>A	1.37:g.248402787C>A	ENSP00000306688:p.Pro186His						p.P186H	NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	557	+	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		186					Q15611|Q8NG82	Missense_Mutation	SNP	ENST00000306687.1	37	c.557C>A	CCDS31108.1	.	.	.	.	.	.	.	.	.	.	c	6.734	0.504226	0.12822	.	.	ENSG00000171180	ENST00000306687	T	0.00076	8.76	3.16	3.16	0.36331	GPCR, rhodopsin-like superfamily (1);	1.586730	0.04121	N	0.316247	T	0.00109	0.0003	N	0.03084	-0.415	0.09310	N	1	B	0.12013	0.005	B	0.15052	0.012	T	0.21177	-1.0253	10	0.52906	T	0.07	.	8.0659	0.30661	0.3863:0.6137:0.0:0.0	.	186	Q96R27	OR2M4_HUMAN	H	186	ENSP00000306688:P186H	ENSP00000306688:P186H	P	+	2	0	OR2M4	246469410	0.000000	0.05858	0.314000	0.25224	0.987000	0.75469	-0.333000	0.07894	1.734000	0.51633	0.543000	0.68304	CCT		0.398	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	NM_017504		13	122	1	0	1.3612e-06	1	1.58344e-06	13	122				
NARFL	64428	broad.mit.edu	37	16	784748	784748	+	Missense_Mutation	SNP	G	G	C			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr16:784748G>C	ENST00000251588.2	-	5	579	c.563C>G	c.(562-564)tCt>tGt	p.S188C	NARFL_ENST00000562862.1_5'Flank|HAGHL_ENST00000569604.1_3'UTR|NARFL_ENST00000540986.1_Missense_Mutation_p.S86C|NARFL_ENST00000301694.5_Missense_Mutation_p.L144V|NARFL_ENST00000568545.1_Missense_Mutation_p.S86C	NM_022493.1	NP_071938.1	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	188					hematopoietic progenitor cell differentiation (GO:0002244)|iron-sulfur cluster assembly (GO:0016226)|oxygen homeostasis (GO:0032364)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	CIA complex (GO:0097361)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				TGGGCAGGCAGAGGCCAGCAG	0.607																																						ENST00000540986.1																			0				autonomic_ganglia(1)|large_intestine(1)|lung(7)	9						c.(256-258)tCt>tGt		nuclear prelamin A recognition factor-like							75.0	86.0	82.0					16																	784748		2199	4300	6499	SO:0001583	missense	64428				iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding	g.chr16:784748G>C	AY129231	CCDS10425.1	16p13.3	2009-12-17			ENSG00000103245	ENSG00000103245			14179	protein-coding gene	gene with protein product	"""iron-only hydrogenase-like protein 1"""	611118				16956324	Standard	NM_022493		Approved	FLJ21988, PRN, HPRN, IOP1	uc002cjr.3	Q9H6Q4	OTTHUMG00000122093	ENST00000251588.2:c.563C>G	16.37:g.784748G>C	ENSP00000251588:p.Ser188Cys					NARFL_ENST00000301694.5_Missense_Mutation_p.L144V|NARFL_ENST00000251588.2_Missense_Mutation_p.S188C|NARFL_ENST00000568545.1_Missense_Mutation_p.S86C|HAGHL_ENST00000569604.1_3'UTR	p.S86C			Q9H6Q4	NARFL_HUMAN			4	1692	-		Hepatocellular(780;0.0218)	188					A1L385|B3KTJ3|Q53GC6|Q96S10|Q9H6J8	Missense_Mutation	SNP	ENST00000251588.2	37	c.257C>G	CCDS10425.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.01|15.01	2.707527|2.707527	0.48412|0.48412	.|.	.|.	ENSG00000103245|ENSG00000103245	ENST00000301694|ENST00000251588;ENST00000540986	T|T;T	0.33865|0.62639	1.39|0.01;0.01	5.13|5.13	5.13|5.13	0.70059|0.70059	.|Iron hydrogenase, large subunit, C-terminal (1);Iron hydrogenase (1);	.|0.051957	.|0.85682	.|D	.|0.000000	D|D	0.87261|0.87261	0.6133|0.6133	H|H	0.98256|0.98256	4.185|4.185	0.80722|0.80722	D|D	1|1	B;B|D	0.34015|0.89917	0.435;0.045|1.0	B;B|D	0.32805|0.97110	0.153;0.061|1.0	D|D	0.92195|0.92195	0.5763|0.5763	9|10	0.07482|0.87932	T|D	0.82|0	-0.6414|-0.6414	17.5595|17.5595	0.87902|0.87902	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	144;144|188	B4DT78;B4DEE7|Q9H6Q4	.;.|NARFL_HUMAN	V|C	144|188;86	ENSP00000301694:L144V|ENSP00000251588:S188C;ENSP00000444008:S86C	ENSP00000301694:L144V|ENSP00000251588:S188C	L|S	-|-	1|2	2|0	NARFL|NARFL	724749|724749	1.000000|1.000000	0.71417|0.71417	0.339000|0.339000	0.25562|0.25562	0.258000|0.258000	0.26162|0.26162	9.309000|9.309000	0.96252|0.96252	2.395000|2.395000	0.81488|0.81488	0.491000|0.491000	0.48974|0.48974	CTG|TCT		0.607	NARFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242855.1	NM_022493		42	50	0	0	0	1	0	42	50				
ZNF800	168850	broad.mit.edu	37	7	127013781	127013781	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr7:127013781G>A	ENST00000393313.1	-	5	2200	c.1609C>T	c.(1609-1611)Cat>Tat	p.H537Y	ZNF800_ENST00000485577.1_5'Flank|ZNF800_ENST00000265827.3_Missense_Mutation_p.H537Y|ZNF800_ENST00000393312.1_Missense_Mutation_p.H537Y			Q2TB10	ZN800_HUMAN	zinc finger protein 800	537					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						ACAGTTATATGTCGTATCACA	0.348																																						ENST00000393313.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						c.(1609-1611)Cat>Tat		zinc finger protein 800							79.0	75.0	77.0					7																	127013781		2203	4300	6503	SO:0001583	missense	168850				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:127013781G>A	AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"""Zinc fingers, C2H2-type"""	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.1609C>T	7.37:g.127013781G>A	ENSP00000376989:p.His537Tyr					ZNF800_ENST00000393312.1_Missense_Mutation_p.H537Y|ZNF800_ENST00000265827.3_Missense_Mutation_p.H537Y	p.H537Y			Q2TB10	ZN800_HUMAN			5	2200	-			537					Q9HBN0	Missense_Mutation	SNP	ENST00000393313.1	37	c.1609C>T	CCDS5795.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.302131	0.60195	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312	D;D;D	0.99924	-8.02;-8.02;-8.02	6.07	6.07	0.98685	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	L	0.32530	0.975	0.36534	D	0.870870	D;D	0.69078	0.997;0.997	D;D	0.79108	0.992;0.992	D	0.96791	0.9582	8	.	.	.	-18.1662	19.6475	0.95784	0.0:0.0:1.0:0.0	.	440;537	B7Z4V7;Q2TB10	.;ZN800_HUMAN	Y	537	ENSP00000376989:H537Y;ENSP00000265827:H537Y;ENSP00000376988:H537Y	.	H	-	1	0	ZNF800	126801017	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.434000	0.97515	2.885000	0.99019	0.655000	0.94253	CAT		0.348	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1	NM_176814		47	56	0	0	0	1	0	47	56				
ZNF695	57116	broad.mit.edu	37	1	247150485	247150485	+	Silent	SNP	A	A	C			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr1:247150485A>C	ENST00000339986.7	-	4	1479	c.1332T>G	c.(1330-1332)gcT>gcG	p.A444A	ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Intron	NM_020394.4	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein 695	444					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ACCAGTTAAAAGCTTTGCCAC	0.383																																						ENST00000339986.7																			0				endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13						c.(1330-1332)gcT>gcG		zinc finger protein 695							50.0	52.0	52.0					1																	247150485		2103	4257	6360	SO:0001819	synonymous_variant	57116				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr1:247150485A>C		CCDS44344.1, CCDS55694.1	1q44	2013-01-08			ENSG00000197472	ENSG00000197472		"""Zinc fingers, C2H2-type"", ""-"""	30954	protein-coding gene	gene with protein product						12477932	Standard	NM_020394		Approved	SBZF3	uc009xgu.3	Q8IW36	OTTHUMG00000040707	ENST00000339986.7:c.1332T>G	1.37:g.247150485A>C						ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Intron	p.A444A	NM_020394.4	NP_065127.4	Q8IW36	ZN695_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		4	1479	-	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	444					Q5T0N9|Q5T0P1|Q5T0P3|Q7Z2W8|Q7Z648	Silent	SNP	ENST00000339986.7	37	c.1332T>G	CCDS44344.1																																																																																				0.383	ZNF695-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097823.5	NM_020394		17	35	0	0	0	1	0	17	35				
RMI1	80010	broad.mit.edu	37	9	86615978	86615978	+	Missense_Mutation	SNP	G	G	C			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr9:86615978G>C	ENST00000325875.3	+	3	409	c.77G>C	c.(76-78)tGg>tCg	p.W26S		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	26					DNA replication (GO:0006260)|glucose homeostasis (GO:0042593)|multicellular organism growth (GO:0035264)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)	nucleus (GO:0005634)				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						CCTCCGATGTGGCTGGAAGCT	0.348																																						ENST00000325875.3																			0				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(76-78)tGg>tCg		RecQ mediated genome instability 1							106.0	115.0	112.0					9																	86615978		2203	4300	6503	SO:0001583	missense	80010				DNA replication	nucleus		g.chr9:86615978G>C	AK022950	CCDS6669.1	9q22.1	2013-06-10	2013-06-10	2006-06-12	ENSG00000178966	ENSG00000178966			25764	protein-coding gene	gene with protein product	"""BLM-Associated Polypeptide, 75 kDa"""	610404	"""chromosome 9 open reading frame 76"", ""RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)"""	C9orf76		15775963, 20826341	Standard	NM_024945		Approved	FLJ12888, BLAP75	uc004anq.4	Q9H9A7	OTTHUMG00000020113	ENST00000325875.3:c.77G>C	9.37:g.86615978G>C	ENSP00000317039:p.Trp26Ser						p.W26S	NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN			3	409	+			26					Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Missense_Mutation	SNP	ENST00000325875.3	37	c.77G>C	CCDS6669.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.621802	0.66787	.	.	ENSG00000178966	ENST00000445877;ENST00000325875	T;T	0.54866	0.55;0.55	5.87	5.87	0.94306	Domain of unknown function DUF1767 (1);	0.000000	0.85682	D	0.000000	T	0.77110	0.4082	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78147	-0.2317	10	0.72032	D	0.01	1.5403	20.5827	0.99408	0.0:0.0:1.0:0.0	.	26	Q9H9A7	RMI1_HUMAN	S	26	ENSP00000402433:W26S;ENSP00000317039:W26S	ENSP00000317039:W26S	W	+	2	0	RMI1	85805798	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	8.515000	0.90548	2.941000	0.99782	0.655000	0.94253	TGG		0.348	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052870.1	NM_024945		4	105	0	0	0	1	0	4	105				
PPP1R12A	4659	broad.mit.edu	37	12	80182523	80182523	+	Missense_Mutation	SNP	A	A	C			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr12:80182523A>C	ENST00000450142.2	-	21	2973	c.2707T>G	c.(2707-2709)Tcc>Gcc	p.S903A	PPP1R12A_ENST00000261207.5_Missense_Mutation_p.S903A|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.S903A|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.S816A|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.S847A	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	903					centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						CCCAGCAAGGAATCATATCGA	0.343																																						ENST00000450142.2																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						c.(2707-2709)Tcc>Gcc		protein phosphatase 1, regulatory subunit 12A							52.0	50.0	50.0					12																	80182523		1819	4080	5899	SO:0001583	missense	4659					contractile fiber	protein binding|signal transducer activity	g.chr12:80182523A>C	D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7618	protein-coding gene	gene with protein product	"""myosin phosphatase-targeting subunit 1"", ""myosin binding subunit"""	602021	"""protein phosphatase 1, regulatory (inhibitor) subunit 12A"""	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.2707T>G	12.37:g.80182523A>C	ENSP00000389168:p.Ser903Ala					PPP1R12A_ENST00000546369.1_Missense_Mutation_p.S816A|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.S903A|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.S847A|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.S903A	p.S903A	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN			21	2973	-			903					B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Missense_Mutation	SNP	ENST00000450142.2	37	c.2707T>G	CCDS44947.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.24|13.24	2.176916|2.176916	0.38413|0.38413	.|.	.|.	ENSG00000058272|ENSG00000058272	ENST00000550299|ENST00000261207;ENST00000546189;ENST00000360825;ENST00000341878;ENST00000312727;ENST00000450142;ENST00000437004;ENST00000546369;ENST00000550107	.|T;T;T;T;T	.|0.37584	.|1.19;1.19;1.27;1.23;1.19	5.94|5.94	5.94|5.94	0.96194|0.96194	.|.	.|0.272209	.|0.43260	.|D	.|0.000581	T|T	0.27454|0.27454	0.0674|0.0674	L|L	0.28608|0.28608	0.87|0.87	0.44247|0.44247	D|D	0.997098|0.997098	.|B;P;B	.|0.51933	.|0.184;0.949;0.116	.|B;B;B	.|0.43575	.|0.08;0.424;0.036	T|T	0.03493|0.03493	-1.1031|-1.1031	5|10	.|0.22706	.|T	.|0.39	.|.	10.6992|10.6992	0.45918|0.45918	0.9293:0.0:0.0707:0.0|0.9293:0.0:0.0707:0.0	.|.	.|903;847;903	.|O14974-2;O14974-3;O14974	.|.;.;MYPT1_HUMAN	M|A	85|903;903;903;847;844;903;903;816;847	.|ENSP00000261207:S903A;ENSP00000389168:S903A;ENSP00000416769:S903A;ENSP00000449514:S816A;ENSP00000446855:S847A	.|ENSP00000261207:S903A	I|S	-|-	3|1	3|0	PPP1R12A|PPP1R12A	78706654|78706654	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.839000|1.839000	0.39220|0.39220	2.275000|2.275000	0.75901|0.75901	0.528000|0.528000	0.53228|0.53228	ATT|TCC		0.343	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407254.2	NM_002480		12	20	0	0	0	1	0	12	20				
ITM2A	9452	broad.mit.edu	37	X	78619050	78619050	+	Splice_Site	SNP	T	T	C			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chrX:78619050T>C	ENST00000373298.2	-	2	256	c.113A>G	c.(112-114)gAg>gGg	p.E38G	ITM2A_ENST00000434584.2_Intron|ITM2A_ENST00000469541.1_5'UTR	NM_004867.4	NP_004858.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	38						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						AACTCGGAGCTCCTATTTATT	0.398																																						ENST00000373298.2																			0				breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						c.e2-1		integral membrane protein 2A							38.0	36.0	37.0					X																	78619050		2203	4299	6502	SO:0001630	splice_region_variant	9452					integral to membrane	protein binding	g.chrX:78619050T>C	BC034485	CCDS14444.1, CCDS55455.1	Xq13.3-q21.2	2012-10-10			ENSG00000078596	ENSG00000078596		"""BRICHOS domain containing"""	6173	protein-coding gene	gene with protein product	"""BRICHOS domain containing 2A"""	300222				9892734, 8702637	Standard	NM_004867		Approved	BRICD2A, E25A	uc004edh.3	O43736	OTTHUMG00000021900	ENST00000373298.2:c.112-1A>G	X.37:g.78619050T>C						ITM2A_ENST00000469541.1_5'UTR|ITM2A_ENST00000434584.2_Intron	p.E38_splice	NM_004867.4	NP_004858.1	O43736	ITM2A_HUMAN			2	256	-			38					B2R7X5|B4E062|Q6IBC9	Splice_Site	SNP	ENST00000373298.2	37	c.111_splice	CCDS14444.1	.	.	.	.	.	.	.	.	.	.	T	15.45	2.836501	0.50951	.	.	ENSG00000078596	ENST00000373298	T	0.25749	1.78	3.99	3.99	0.46301	.	0.657673	0.14213	N	0.333954	T	0.20820	0.0501	L	0.40543	1.245	0.80722	D	1	P	0.49090	0.919	B	0.38378	0.272	T	0.04115	-1.0976	10	0.66056	D	0.02	-6.8722	11.2059	0.48769	0.0:0.0:0.0:1.0	.	38	O43736	ITM2A_HUMAN	G	38	ENSP00000362395:E38G	ENSP00000362395:E38G	E	-	2	0	ITM2A	78505706	1.000000	0.71417	0.337000	0.25536	0.974000	0.67602	4.004000	0.57068	1.377000	0.46286	0.339000	0.21740	GAG		0.398	ITM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057329.1	NM_004867	Missense_Mutation	20	10	0	0	0	1	0	20	10				
SLC4A3	6508	broad.mit.edu	37	2	220504357	220504357	+	Silent	SNP	G	G	A	rs138004203		TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr2:220504357G>A	ENST00000358055.3	+	20	3689	c.3177G>A	c.(3175-3177)gcG>gcA	p.A1059A	SLC4A3_ENST00000373760.2_Silent_p.A1059A|SLC4A3_ENST00000373762.3_Silent_p.A1086A|SLC4A3_ENST00000317151.3_Silent_p.A1059A|SLC4A3_ENST00000273063.6_Silent_p.A1086A			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	1059	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)	p.A1086A(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATGTCAATGCGTTGACAGTGA	0.652																																						ENST00000358055.3																			1	Substitution - coding silent(1)	p.A1086A(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51						c.(3175-3177)gcG>gcA		solute carrier family 4 (anion exchanger), member 3		G	,	0,4406		0,0,2203	72.0	62.0	65.0		3177,3258	-5.2	0.0	2	dbSNP_134	65	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SLC4A3	NM_005070.3,NM_201574.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	1059/1233,1086/1260	220504357	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220504357G>A		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.3177G>A	2.37:g.220504357G>A						SLC4A3_ENST00000373760.2_Silent_p.A1059A|SLC4A3_ENST00000317151.3_Silent_p.A1059A|SLC4A3_ENST00000273063.6_Silent_p.A1086A|SLC4A3_ENST00000373762.3_Silent_p.A1086A	p.A1059A			P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	20	3689	+		Renal(207;0.0183)	1059			Membrane (anion exchange).		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Silent	SNP	ENST00000358055.3	37	c.3177G>A	CCDS2445.1																																																																																				0.652	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		12	43	0	0	0	1	0	12	43				
EIF4G3	8672	broad.mit.edu	37	1	21188821	21188821	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr1:21188821C>T	ENST00000264211.8	-	17	3037	c.2843G>A	c.(2842-2844)cGt>cAt	p.R948H	EIF4G3_ENST00000602326.1_Missense_Mutation_p.R954H|EIF4G3_ENST00000400422.1_Missense_Mutation_p.R948H|EIF4G3_ENST00000537738.1_Missense_Mutation_p.R438H|EIF4G3_ENST00000374935.3_Missense_Mutation_p.R668H|EIF4G3_ENST00000374937.3_Missense_Mutation_p.R954H|EIF4G3_ENST00000536266.1_Missense_Mutation_p.R552H	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	948	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.|eIF3/EIF4A-binding. {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CTGGTCCATACGTGGCTGCAA	0.328																																						ENST00000602326.1																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70						c.(2860-2862)cGt>cAt		eukaryotic translation initiation factor 4 gamma, 3							103.0	100.0	101.0					1																	21188821		2203	4300	6503	SO:0001583	missense	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21188821C>T	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.2843G>A	1.37:g.21188821C>T	ENSP00000264211:p.Arg948His					EIF4G3_ENST00000400422.1_Missense_Mutation_p.R948H|EIF4G3_ENST00000536266.1_Missense_Mutation_p.R552H|EIF4G3_ENST00000374935.3_Missense_Mutation_p.R668H|EIF4G3_ENST00000374937.3_Missense_Mutation_p.R954H|EIF4G3_ENST00000264211.8_Missense_Mutation_p.R948H|EIF4G3_ENST00000537738.1_Missense_Mutation_p.R438H	p.R954H	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	21	3444	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	948			MIF4G.|eIF3/EIF4A-binding (By similarity).		B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	c.2861G>A	CCDS214.1	.	.	.	.	.	.	.	.	.	.	C	34	5.395256	0.96009	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266	T;T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88;1.88	5.56	5.56	0.83823	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.054675	0.85682	D	0.000000	T	0.46756	0.1409	L	0.45285	1.41	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.979	D;D;D;D;P	0.97110	1.0;0.982;0.95;0.999;0.65	T	0.38757	-0.9646	10	0.72032	D	0.01	-9.0504	19.5448	0.95287	0.0:1.0:0.0:0.0	.	1143;668;552;954;948	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	H	948;1144;948;668;438;954;552	ENSP00000264211:R948H;ENSP00000383274:R948H;ENSP00000364071:R668H;ENSP00000442010:R438H;ENSP00000364073:R954H;ENSP00000444693:R552H	ENSP00000264211:R948H	R	-	2	0	EIF4G3	21061408	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	7.814000	0.86154	2.613000	0.88420	0.650000	0.86243	CGT		0.328	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		16	47	0	0	0	1	0	16	47				
BRAT1	221927	broad.mit.edu	37	7	2582851	2582851	+	Missense_Mutation	SNP	T	T	G			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr7:2582851T>G	ENST00000340611.4	-	6	1166	c.910A>C	c.(910-912)Aag>Cag	p.K304Q	BRAT1_ENST00000473879.1_5'Flank	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	304					response to ionizing radiation (GO:0010212)	membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						TGCTCGAGCTTCAGGATCCCC	0.652																																						ENST00000340611.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						c.(910-912)Aag>Cag		BRCA1-associated ATM activator 1							73.0	75.0	74.0					7																	2582851		2203	4300	6503	SO:0001583	missense	221927				response to ionizing radiation	nucleus	protein binding	g.chr7:2582851T>G	BC015632	CCDS5334.1	7p22.3	2011-03-22	2011-02-28	2011-03-22	ENSG00000106009	ENSG00000106009			21701	protein-coding gene	gene with protein product	"""BRCA1-associated protein required for ATM activation protein 1"""	614506	"""chromosome 7 open reading frame 27"""	C7orf27, BAAT1		16452482	Standard	NM_152743		Approved	MGC22916	uc003smi.3	Q6PJG6	OTTHUMG00000119091	ENST00000340611.4:c.910A>C	7.37:g.2582851T>G	ENSP00000339637:p.Lys304Gln						p.K304Q	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN			6	1166	-			304					A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Missense_Mutation	SNP	ENST00000340611.4	37	c.910A>C	CCDS5334.1	.	.	.	.	.	.	.	.	.	.	T	14.90	2.672171	0.47781	.	.	ENSG00000106009	ENST00000340611	T	0.67865	-0.29	5.85	4.67	0.58626	Armadillo-type fold (1);	0.478085	0.23949	N	0.042975	T	0.59101	0.2169	L	0.60455	1.87	0.40249	D	0.978042	P	0.35507	0.506	B	0.28305	0.088	T	0.61778	-0.6993	10	0.66056	D	0.02	-12.7255	10.9263	0.47193	0.0:0.0:0.1572:0.8428	.	304	Q6PJG6	BRAT1_HUMAN	Q	304	ENSP00000339637:K304Q	ENSP00000339637:K304Q	K	-	1	0	BRAT1	2549377	1.000000	0.71417	0.926000	0.36857	0.280000	0.26924	4.559000	0.60796	0.997000	0.38969	0.533000	0.62120	AAG		0.652	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239305.2	NM_152743		14	47	0	0	0	1	0	14	47				
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	RNA	SNP	T	T	G	rs200656321		TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr16:32890622T>G	ENST00000330048.5	-	0	3176					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		CGTTGGTGTTTTTGTAGACCA	0.617																																						ENST00000330048.5																			0																																																			0							g.chr16:32890622T>G	U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32890622T>G								NR_003083.2						0	3176	-									RNA	SNP	ENST00000330048.5	37																																																																																						0.617	SLC6A10P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432081.2			3	31	0	0	0	1	0	3	31				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977377	29977377	+	RNA	SNP	C	C	G			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr6:29977377C>G	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA|HLA-J_ENST00000462773.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		TTTGTGACTTCAAGAACCCTG	0.458																																						ENST00000376797.3																			0																																																			0							g.chr6:29977377C>G	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977377C>G						ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.458	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		3	38	0	0	0	1	0	3	38				
HELZ	9931	broad.mit.edu	37	17	65083153	65083153	+	Silent	SNP	G	G	A			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr17:65083153G>A	ENST00000358691.5	-	32	5452	c.5286C>T	c.(5284-5286)atC>atT	p.I1762I	HELZ_ENST00000580168.1_Silent_p.I1763I	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1762						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AGCTAGATGAGATTCTTCTTT	0.443																																						ENST00000358691.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(5284-5286)atC>atT		helicase with zinc finger							80.0	79.0	79.0					17																	65083153		1918	4129	6047	SO:0001819	synonymous_variant	9931							g.chr17:65083153G>A	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.5286C>T	17.37:g.65083153G>A						HELZ_ENST00000580168.1_Silent_p.I1763I	p.I1762I	NM_014877.3	NP_055692.2					32	5452	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Silent	SNP	ENST00000358691.5	37	c.5286C>T	CCDS42374.1																																																																																				0.443	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		8	35	0	0	0	1	0	8	35				
CYP2C18	1562	broad.mit.edu	37	10	96448025	96448025	+	Missense_Mutation	SNP	A	A	C			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr10:96448025A>C	ENST00000285979.6	+	3	674	c.475A>C	c.(475-477)Acc>Ccc	p.T159P	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Missense_Mutation_p.T159P	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	159					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)	p.T159P(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	GTTGAGAAAAACCAATGGTGG	0.383																																						ENST00000285979.6																			1	Substitution - Missense(1)	p.T159P(1)	lung(1)	NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26						c.(475-477)Acc>Ccc		cytochrome P450, family 2, subfamily C, polypeptide 18							102.0	102.0	102.0					10																	96448025		2203	4300	6503	SO:0001583	missense	1562							g.chr10:96448025A>C	M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"""Cytochrome P450s"""	2620	protein-coding gene	gene with protein product		601131	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"""	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.475A>C	10.37:g.96448025A>C	ENSP00000285979:p.Thr159Pro					CYP2C18_ENST00000339022.5_Missense_Mutation_p.T159P|CYP2C19_ENST00000464755.1_3'UTR	p.T159P	NM_000772.2	NP_000763.1				all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	3	674	+		Colorectal(252;0.09)						B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Missense_Mutation	SNP	ENST00000285979.6	37	c.475A>C	CCDS7435.1	.	.	.	.	.	.	.	.	.	.	a	14.44	2.535532	0.45176	.	.	ENSG00000108242	ENST00000339022;ENST00000285979	T;T	0.69435	-0.4;-0.4	4.54	1.89	0.25635	.	0.812696	0.10856	U	0.626675	T	0.78272	0.4257	M	0.82193	2.58	0.09310	N	1	D;D	0.89917	1.0;0.993	D;D	0.91635	0.999;0.919	T	0.63449	-0.6635	10	0.87932	D	0	.	1.4661	0.02406	0.5502:0.1769:0.1015:0.1713	.	159;159	Q4VAT5;P33260	.;CP2CI_HUMAN	P	159	ENSP00000341293:T159P;ENSP00000285979:T159P	ENSP00000285979:T159P	T	+	1	0	CYP2C18	96438015	0.000000	0.05858	0.984000	0.44739	0.865000	0.49528	1.067000	0.30616	0.547000	0.28938	0.255000	0.18592	ACC		0.383	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049486.1	NM_000772		44	49	0	0	0	1	0	44	49				
R3HDML	140902	broad.mit.edu	37	20	42972036	42972036	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr20:42972036C>A	ENST00000217043.2	+	3	572	c.400C>A	c.(400-402)Ctc>Atc	p.L134I	Y_RNA_ENST00000364493.1_RNA	NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like	134	SCP.					extracellular region (GO:0005576)	peptidase inhibitor activity (GO:0030414)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			CGTAGTGGATCTCATGAAGTC	0.617																																						ENST00000217043.2																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21						c.(400-402)Ctc>Atc		R3H domain containing-like							118.0	81.0	94.0					20																	42972036		2203	4300	6503	SO:0001583	missense	140902					extracellular region	peptidase inhibitor activity	g.chr20:42972036C>A	BC107048	CCDS13329.1	20q13.12	2007-04-26	2005-09-02		ENSG00000101074	ENSG00000101074			16249	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing-like"""				Standard	NM_178491		Approved	dJ881L22.3	uc002xls.2	Q9H3Y0	OTTHUMG00000032524	ENST00000217043.2:c.400C>A	20.37:g.42972036C>A	ENSP00000217043:p.Leu134Ile						p.L134I	NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		3	572	+		Myeloproliferative disorder(115;0.028)	134						Missense_Mutation	SNP	ENST00000217043.2	37	c.400C>A	CCDS13329.1	.	.	.	.	.	.	.	.	.	.	C	8.356	0.831964	0.16820	.	.	ENSG00000101074	ENST00000217043	T	0.09723	2.95	4.98	2.99	0.34606	CAP domain (3);	0.258737	0.28946	N	0.013640	T	0.09862	0.0242	L	0.48935	1.535	0.22926	N	0.99855	B	0.24258	0.1	B	0.28916	0.096	T	0.27739	-1.0065	10	0.21014	T	0.42	.	8.1922	0.31374	0.2801:0.643:0.0:0.0769	.	134	Q9H3Y0	CRSPL_HUMAN	I	134	ENSP00000217043:L134I	ENSP00000217043:L134I	L	+	1	0	R3HDML	42405450	0.999000	0.42202	0.096000	0.21009	0.004000	0.04260	4.002000	0.57053	1.203000	0.43233	-0.175000	0.13238	CTC		0.617	R3HDML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079344.1	NM_178491		6	46	1	0	0.27861	1	0.283586	6	46				
ZNF57	126295	broad.mit.edu	37	19	2917842	2917842	+	Missense_Mutation	SNP	G	G	A	rs149690257	byFrequency	TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr19:2917842G>A	ENST00000306908.5	+	4	1371	c.1223G>A	c.(1222-1224)cGa>cAa	p.R408Q	AC006277.2_ENST00000520090.2_RNA|ZNF57_ENST00000523428.1_Missense_Mutation_p.R376Q	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	408					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		AGATCATTCCGAGGTCATTTG	0.428													G|||	2	0.000399361	0.0	0.0	5008	,	,		22693	0.0		0.0	False		,,,				2504	0.002				NSCLC(150;910 1964 4303 10464 26498)	ENST00000306908.5																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1222-1224)cGa>cAa		zinc finger protein 57							95.0	86.0	89.0					19																	2917842		2203	4300	6503	SO:0001583	missense	126295				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2917842G>A	M88368	CCDS12098.1	19p13.3	2013-01-08			ENSG00000171970	ENSG00000171970		"""Zinc fingers, C2H2-type"", ""-"""	13125	protein-coding gene	gene with protein product			"""zinc finger protein 424"""	ZNF424		1505991	Standard	NM_173480		Approved		uc002lwr.3	Q68EA5	OTTHUMG00000164485	ENST00000306908.5:c.1223G>A	19.37:g.2917842G>A	ENSP00000303696:p.Arg408Gln					ZNF57_ENST00000523428.1_Missense_Mutation_p.R376Q|AC006277.2_ENST00000520090.2_RNA	p.R408Q	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1371	+			408					Q8N6R9	Missense_Mutation	SNP	ENST00000306908.5	37	c.1223G>A	CCDS12098.1	.	.	.	.	.	.	.	.	.	.	G	2.637	-0.285137	0.05605	.	.	ENSG00000171970	ENST00000306908;ENST00000395204;ENST00000523428	T;T	0.04275	3.66;3.66	2.25	-4.5	0.03493	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01976	0.0062	N	0.05050	-0.12	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47368	-0.9123	9	0.20046	T	0.44	.	5.4761	0.16695	0.2484:0.0:0.5675:0.1841	.	408	Q68EA5	ZNF57_HUMAN	Q	408;410;376	ENSP00000303696:R408Q;ENSP00000430223:R376Q	ENSP00000303696:R408Q	R	+	2	0	ZNF57	2868842	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-1.935000	0.01550	-1.296000	0.02353	-0.514000	0.04452	CGA		0.428	ZNF57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378969.1	NM_173480		4	82	0	0	0	1	0	4	82				
ZMYM3	9203	broad.mit.edu	37	X	70461117	70461117	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chrX:70461117G>A	ENST00000353904.2	-	24	4067	c.3880C>T	c.(3880-3882)Cgc>Tgc	p.R1294C	ZMYM3_ENST00000373984.3_Missense_Mutation_p.R1204C|ZMYM3_ENST00000314425.5_Missense_Mutation_p.R1294C|ZMYM3_ENST00000373988.1_Missense_Mutation_p.R1296C|ZMYM3_ENST00000373998.1_Missense_Mutation_p.R1282C|ZMYM3_ENST00000489332.1_5'UTR	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1294					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					ACAGGGCAGCGGAGGGGATTC	0.507																																						ENST00000373998.1																			0				breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(3844-3846)Cgc>Tgc		zinc finger, MYM-type 3							127.0	102.0	110.0					X																	70461117		2203	4300	6503	SO:0001583	missense	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70461117G>A	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.3880C>T	X.37:g.70461117G>A	ENSP00000343909:p.Arg1294Cys					ZMYM3_ENST00000353904.2_Missense_Mutation_p.R1294C|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Missense_Mutation_p.R1204C|ZMYM3_ENST00000314425.5_Missense_Mutation_p.R1294C|ZMYM3_ENST00000373988.1_Missense_Mutation_p.R1296C	p.R1282C	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN			24	4541	-	Renal(35;0.156)		1294					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.3844C>T	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	g	22.7	4.322604	0.81580	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T;T	0.61510	0.68;0.1;0.68;0.9;0.67	4.81	4.81	0.61882	.	0.000000	0.64402	D	0.000003	T	0.75539	0.3863	M	0.71036	2.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.79298	-0.1861	10	0.87932	D	0	-11.9563	17.1082	0.86669	0.0:0.0:1.0:0.0	.	1282;1294	Q14202-2;Q14202	.;ZMYM3_HUMAN	C	1294;1282;1294;1204;1296	ENSP00000322845:R1294C;ENSP00000363110:R1282C;ENSP00000343909:R1294C;ENSP00000363096:R1204C;ENSP00000363100:R1296C	ENSP00000322845:R1294C	R	-	1	0	ZMYM3	70377842	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.013000	0.64023	2.218000	0.71995	0.594000	0.82650	CGC		0.507	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		13	8	0	0	0	1	0	13	8				
C1orf53	388722	broad.mit.edu	37	1	197876315	197876315	+	Missense_Mutation	SNP	A	A	C			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr1:197876315A>C	ENST00000367393.3	+	3	406	c.403A>C	c.(403-405)Aaa>Caa	p.K135Q	C1orf53_ENST00000542800.1_3'UTR	NM_001024594.2	NP_001019765.1	Q5VUE5	CA053_HUMAN	chromosome 1 open reading frame 53	135										endometrium(1)|lung(1)	2						AGATCCATCTAAAAAGAAGCA	0.274																																						ENST00000367393.3																			0				endometrium(1)|lung(1)	2						c.(403-405)Aaa>Caa		chromosome 1 open reading frame 53							66.0	66.0	66.0					1																	197876315		1795	4061	5856	SO:0001583	missense	388722							g.chr1:197876315A>C	BC038214	CCDS44290.1	1q31.3	2011-01-26			ENSG00000203724	ENSG00000203724			30003	protein-coding gene	gene with protein product						15897902	Standard	NM_001024594		Approved		uc001guh.3	Q5VUE5	OTTHUMG00000035659	ENST00000367393.3:c.403A>C	1.37:g.197876315A>C	ENSP00000356363:p.Lys135Gln					C1orf53_ENST00000542800.1_3'UTR	p.K135Q	NM_001024594.2	NP_001019765.1	Q5VUE5	CA053_HUMAN			3	406	+			135					A1L4N2|Q5VUE4	Missense_Mutation	SNP	ENST00000367393.3	37	c.403A>C	CCDS44290.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.24|19.24	3.789912|3.789912	0.70337|0.70337	.|.	.|.	ENSG00000203724|ENSG00000203724	ENST00000367393|ENST00000436652	.|.	.|.	.|.	6.03|6.03	4.9|4.9	0.64082|0.64082	.|.	0.075310|.	0.49916|.	U|.	0.000130|.	T|.	0.65502|.	0.2697|.	M|M	0.67397|0.67397	2.05|2.05	0.48452|0.48452	D|D	0.99965|0.99965	D|.	0.76494|.	0.999|.	D|.	0.69479|.	0.964|.	T|.	0.63950|.	-0.6521|.	9|.	0.72032|.	D|.	0.01|.	-22.4148|-22.4148	11.3561|11.3561	0.49617|0.49617	0.9297:0.0:0.0703:0.0|0.9297:0.0:0.0703:0.0	.|.	135|.	Q5VUE5|.	CA053_HUMAN|.	Q|S	135|71	.|.	ENSP00000356363:K135Q|.	K|X	+|+	1|2	0|2	C1orf53|C1orf53	196142938|196142938	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.726000|5.726000	0.68515|0.68515	1.106000|1.106000	0.41623|0.41623	0.533000|0.533000	0.62120|0.62120	AAA|TAA		0.274	C1orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086555.1	NM_001024594		13	19	0	0	0	1	0	13	19				
ATRNL1	26033	broad.mit.edu	37	10	116919908	116919908	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr10:116919908C>T	ENST00000355044.3	+	6	1063	c.937C>T	c.(937-939)Cac>Tac	p.H313Y	ATRNL1_ENST00000529665.1_3'UTR|ATRNL1_ENST00000527407.1_Missense_Mutation_p.H313Y	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	313					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AGCAGTTTTACACGGGAAATT	0.368																																						ENST00000355044.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(937-939)Cac>Tac		attractin-like 1							218.0	225.0	222.0					10																	116919908		2203	4300	6503	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:116919908C>T	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.937C>T	10.37:g.116919908C>T	ENSP00000347152:p.His313Tyr					ATRNL1_ENST00000529665.1_3'UTR|ATRNL1_ENST00000527407.1_Missense_Mutation_p.H313Y	p.H313Y	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	6	1063	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	313					O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.937C>T	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	C	7.991	0.753309	0.15778	.	.	ENSG00000107518	ENST00000526946;ENST00000355044	T;T	0.65178	1.55;-0.14	5.83	4.0	0.46444	.	0.316750	0.39834	N	0.001252	T	0.47875	0.1469	L	0.43152	1.355	0.80722	D	1	B;B;B	0.18863	0.031;0.002;0.019	B;B;B	0.17722	0.009;0.002;0.019	T	0.36648	-0.9739	10	0.02654	T	1	-17.6	11.3751	0.49724	0.0:0.8593:0.0:0.1407	.	246;313;313	E9PL90;Q5VV63;Q5VV63-2	.;ATRN1_HUMAN;.	Y	246;313	ENSP00000431423:H246Y;ENSP00000347152:H313Y	ENSP00000347152:H313Y	H	+	1	0	ATRNL1	116909898	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	4.053000	0.57427	0.826000	0.34661	-0.234000	0.12200	CAC		0.368	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		19	97	0	0	0	1	0	19	97				
TRPM3	80036	broad.mit.edu	37	9	73240153	73240153	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr9:73240153C>T	ENST00000377111.2	-	13	1970	c.1727G>A	c.(1726-1728)cGc>cAc	p.R576H	TRPM3_ENST00000408909.2_Missense_Mutation_p.R435H|TRPM3_ENST00000396280.5_Missense_Mutation_p.R435H|TRPM3_ENST00000377110.3_Missense_Mutation_p.R576H|TRPM3_ENST00000423814.3_Missense_Mutation_p.R603H|TRPM3_ENST00000357533.2_Missense_Mutation_p.R590H|TRPM3_ENST00000358082.3_Missense_Mutation_p.R448H|TRPM3_ENST00000396285.1_Missense_Mutation_p.R423H|TRPM3_ENST00000377106.1_Missense_Mutation_p.R448H|TRPM3_ENST00000360823.2_Missense_Mutation_p.R448H|TRPM3_ENST00000396292.4_Missense_Mutation_p.R448H|TRPM3_ENST00000377105.1_Missense_Mutation_p.R435H	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	601					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GAAGCGCTTGCGCGTGTAGTT	0.597																																						ENST00000377110.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(1726-1728)cGc>cAc		transient receptor potential cation channel, subfamily M, member 3							41.0	42.0	41.0					9																	73240153		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73240153C>T	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.1727G>A	9.37:g.73240153C>T	ENSP00000366315:p.Arg576His					TRPM3_ENST00000377105.1_Missense_Mutation_p.R435H|TRPM3_ENST00000360823.2_Missense_Mutation_p.R448H|TRPM3_ENST00000396292.4_Missense_Mutation_p.R448H|TRPM3_ENST00000357533.2_Missense_Mutation_p.R590H|TRPM3_ENST00000377111.2_Missense_Mutation_p.R576H|TRPM3_ENST00000396285.1_Missense_Mutation_p.R423H|TRPM3_ENST00000423814.3_Missense_Mutation_p.R603H|TRPM3_ENST00000377106.1_Missense_Mutation_p.R448H|TRPM3_ENST00000358082.3_Missense_Mutation_p.R448H|TRPM3_ENST00000408909.2_Missense_Mutation_p.R435H|TRPM3_ENST00000396280.5_Missense_Mutation_p.R435H	p.R576H	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN			13	1970	-			601					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.1727G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.580715	0.96565	.	.	ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	T;T;T;T;T;T;T;T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.87958	0.6309	M	0.80982	2.52	0.54753	D	0.999988	D;D;D;D;D;D;D;D	0.89917	1.0;0.995;1.0;0.999;1.0;1.0;0.999;0.994	D;P;D;D;D;D;D;P	0.91635	0.979;0.796;0.972;0.931;0.97;0.999;0.954;0.836	D	0.88033	0.2776	10	0.87932	D	0	-19.9978	20.5596	0.99324	0.0:1.0:0.0:0.0	.	576;576;576;590;448;435;558;423	Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.;.;.;.;.;.;.;.	H	576;576;448;448;435;590;435;423;448;448;603	ENSP00000366315:R576H;ENSP00000366314:R576H;ENSP00000366310:R448H;ENSP00000354066:R448H;ENSP00000366309:R435H;ENSP00000350140:R590H;ENSP00000386127:R435H;ENSP00000379581:R423H;ENSP00000379587:R448H;ENSP00000350791:R448H;ENSP00000389542:R603H	ENSP00000350140:R590H	R	-	2	0	TRPM3	72429973	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.607000	0.82883	2.868000	0.98415	0.555000	0.69702	CGC		0.597	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		9	15	0	0	0	1	0	9	15				
PRDX1	5052	broad.mit.edu	37	1	45980652	45980652	+	Missense_Mutation	SNP	C	C	G			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr1:45980652C>G	ENST00000262746.1	-	4	615	c.276G>C	c.(274-276)aaG>aaC	p.K92N	PRDX1_ENST00000319248.8_Missense_Mutation_p.K92N|PRDX1_ENST00000372079.1_Intron|PRDX1_ENST00000483583.1_5'Flank	NM_002574.3|NM_181696.2	NP_002565.1|NP_859047.1	Q06830	PRDX1_HUMAN	peroxiredoxin 1	92	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell proliferation (GO:0008283)|erythrocyte homeostasis (GO:0034101)|hydrogen peroxide catabolic process (GO:0042744)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of NF-kappaB import into nucleus (GO:0042345)|regulation of stress-activated MAPK cascade (GO:0032872)|removal of superoxide radicals (GO:0019430)|retina homeostasis (GO:0001895)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)	heme binding (GO:0020037)|peroxidase activity (GO:0004601)|poly(A) RNA binding (GO:0044822)|thioredoxin peroxidase activity (GO:0008379)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12	Acute lymphoblastic leukemia(166;0.155)					CTCCTTGTTTCTTAGGTGTAT	0.448																																						ENST00000262746.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12						c.(274-276)aaG>aaC		peroxiredoxin 1							222.0	207.0	212.0					1																	45980652		2203	4300	6503	SO:0001583	missense	5052				cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|skeletal system development	melanosome|mitochondrion|nucleus	protein binding|thioredoxin peroxidase activity	g.chr1:45980652C>G	BC021683	CCDS522.1	1p34.1	2008-02-05			ENSG00000117450	ENSG00000117450			9352	protein-coding gene	gene with protein product		176763		PAGA		8496166	Standard	NM_181697		Approved	NKEFA	uc021omw.1	Q06830	OTTHUMG00000007738	ENST00000262746.1:c.276G>C	1.37:g.45980652C>G	ENSP00000262746:p.Lys92Asn					PRDX1_ENST00000372079.1_Intron|PRDX1_ENST00000319248.8_Missense_Mutation_p.K92N	p.K92N	NM_002574.3|NM_181696.2	NP_002565.1|NP_859047.1	Q06830	PRDX1_HUMAN			4	615	-	Acute lymphoblastic leukemia(166;0.155)		92			Thioredoxin.		B5BU26|D3DPZ8|P35703|Q2V576|Q5T154|Q5T155	Missense_Mutation	SNP	ENST00000262746.1	37	c.276G>C	CCDS522.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.727751	0.48833	.	.	ENSG00000117450	ENST00000262746;ENST00000319248;ENST00000447184;ENST00000424390	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	6.03	4.14	0.48551	Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant (1);Thioredoxin-like fold (3);	0.098604	0.64402	D	0.000004	T	0.24967	0.0606	L	0.39692	1.235	0.47407	D	0.999411	B	0.16396	0.017	B	0.19666	0.026	T	0.09079	-1.0691	10	0.87932	D	0	-9.2721	8.5478	0.33433	0.0:0.7406:0.125:0.1344	.	92	Q06830	PRDX1_HUMAN	N	92	ENSP00000262746:K92N;ENSP00000361152:K92N;ENSP00000407034:K92N;ENSP00000389047:K92N	ENSP00000262746:K92N	K	-	3	2	PRDX1	45753239	0.998000	0.40836	1.000000	0.80357	0.970000	0.65996	0.578000	0.23773	1.547000	0.49401	0.655000	0.94253	AAG		0.448	PRDX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020845.1	NM_181697		53	108	0	0	0	1	0	53	108				
TMEM106A	113277	broad.mit.edu	37	17	41367895	41367895	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr17:41367895C>A	ENST00000331615.3	+	5	601	c.364C>A	c.(364-366)Cag>Aag	p.Q122K	TMEM106A_ENST00000588659.1_Missense_Mutation_p.Q122K|TMEM106A_ENST00000541594.1_Missense_Mutation_p.Q74K|TMEM106A_ENST00000536052.1_Missense_Mutation_p.Q122K|LINC00854_ENST00000427995.1_RNA|TMEM106A_ENST00000592564.1_3'UTR	NM_145041.1	NP_659478.1	Q96A25	T106A_HUMAN	transmembrane protein 106A	122						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11		Breast(137;0.0164)		BRCA - Breast invasive adenocarcinoma(366;0.0917)		CGTCATTGTGCAGCCTGCAGG	0.567																																						ENST00000331615.3																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11						c.(364-366)Cag>Aag		transmembrane protein 106A							261.0	231.0	241.0					17																	41367895		2203	4296	6499	SO:0001583	missense	113277					integral to membrane		g.chr17:41367895C>A	AK056132	CCDS11462.1, CCDS74073.1	17q21.31	2012-01-23			ENSG00000184988	ENSG00000184988			28288	protein-coding gene	gene with protein product							Standard	XM_006721658		Approved	MGC20235	uc002idn.1	Q96A25		ENST00000331615.3:c.364C>A	17.37:g.41367895C>A	ENSP00000330774:p.Gln122Lys					TMEM106A_ENST00000588659.1_Missense_Mutation_p.Q122K|TMEM106A_ENST00000592564.1_3'UTR|TMEM106A_ENST00000541594.1_Missense_Mutation_p.Q74K|TMEM106A_ENST00000536052.1_Missense_Mutation_p.Q122K	p.Q122K	NM_145041.1	NP_659478.1	Q96A25	T106A_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0917)	5	601	+		Breast(137;0.0164)	122					A8K2X2|B7Z698	Missense_Mutation	SNP	ENST00000331615.3	37	c.364C>A	CCDS11462.1	.	.	.	.	.	.	.	.	.	.	C	1.531	-0.544253	0.04024	.	.	ENSG00000184988	ENST00000331615;ENST00000536052;ENST00000541594	T;T;T	0.21031	2.03;2.03;2.03	5.53	3.5	0.40072	.	0.744748	0.13426	N	0.388787	T	0.13243	0.0321	L	0.39898	1.24	0.25295	N	0.989324	B;B;B	0.34181	0.44;0.089;0.44	B;B;B	0.31946	0.138;0.098;0.138	T	0.19647	-1.0299	10	0.02654	T	1	9.1062	7.7182	0.28717	0.0:0.7481:0.1644:0.0875	.	122;74;122	B7Z779;B7Z698;Q96A25	.;.;T106A_HUMAN	K	122;122;74	ENSP00000330774:Q122K;ENSP00000439835:Q122K;ENSP00000439844:Q74K	ENSP00000330774:Q122K	Q	+	1	0	TMEM106A	38723421	0.210000	0.23517	0.978000	0.43139	0.436000	0.31835	0.296000	0.19083	0.791000	0.33826	0.655000	0.94253	CAG		0.567	TMEM106A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453470.2	NM_145041		41	158	1	0	8.16277e-20	1	1.03395e-19	41	158				
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473098	22473098	+	RNA	SNP	C	C	T			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr15:22473098C>T	ENST00000557788.2	-	0	172							A6NJ16	IV4F8_HUMAN	immunoglobulin heavy variable 4/OR15-8 (non-functional)							extracellular region (GO:0005576)											TGGGGGCTGGCGGACCCAGCT	0.592																																						ENST00000557788.2																			0																																																			0							g.chr15:22473098C>T	Z29598		15q11.2	2012-02-20	2008-09-15		ENSG00000259261	ENSG00000259261		"""Immunoglobulins / IGH orphons"""	5658	other	immunoglobulin gene			"""immunoglobulin heavy variable 4/OR15-8"", ""V-set and immunoglobulin domain containing 6"""	VSIG6		7951227	Standard			Approved	IGHV4/OR15-8, IGHV4OR158		A6NJ16	OTTHUMG00000171934		15.37:g.22473098C>T														0	172	-									RNA	SNP	ENST00000557788.2	37																																																																																						0.592	IGHV4OR15-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000415968.2			14	107	0	0	0	1	0	14	107				
ZNF578	147660	broad.mit.edu	37	19	53014268	53014268	+	Missense_Mutation	SNP	T	T	G			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr19:53014268T>G	ENST00000421239.2	+	6	878	c.634T>G	c.(634-636)Ttt>Gtt	p.F212V	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	212					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TGGGAATAATTTTTTCCATTC	0.363																																						ENST00000421239.2																			0											c.(634-636)Ttt>Gtt		zinc finger protein 578							65.0	68.0	67.0					19																	53014268		2201	4298	6499	SO:0001583	missense	147660				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53014268T>G	AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.634T>G	19.37:g.53014268T>G	ENSP00000459216:p.Phe212Val						p.F212V	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN		GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)	6	878	+			127					B4DR51|I3L1Y6	Missense_Mutation	SNP	ENST00000421239.2	37	c.634T>G	CCDS54310.1	.	.	.	.	.	.	.	.	.	.	-	14.44	2.534697	0.45073	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.42	0.149	0.14863	.	.	.	.	.	T	0.51363	0.1670	M	0.91872	3.25	0.09310	N	1	B	0.29531	0.247	B	0.28553	0.091	T	0.49312	-0.8953	7	.	.	.	.	6.1415	0.20263	0.0:0.0:0.2616:0.7384	.	212	G3V4F6	.	V	212	.	.	F	+	1	0	ZNF578	57706080	0.179000	0.23135	0.001000	0.08648	0.324000	0.28378	0.484000	0.22308	-0.174000	0.10743	0.113000	0.15668	TTT		0.363	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	NM_152472		27	45	0	0	0	1	0	27	45				
GRIA4	2893	broad.mit.edu	37	11	105789611	105789611	+	Silent	SNP	C	C	A			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr11:105789611C>A	ENST00000530497.1	+	10	1443	c.1443C>A	c.(1441-1443)atC>atA	p.I481I	GRIA4_ENST00000282499.5_Silent_p.I481I|GRIA4_ENST00000393127.2_Silent_p.I481I|GRIA4_ENST00000525187.1_Silent_p.I481I			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	481					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		ACACAAAAATCTGGAATGGGA	0.368																																						ENST00000393127.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82						c.(1441-1443)atC>atA		glutamate receptor, ionotropic, AMPA 4	L-Glutamic Acid(DB00142)						110.0	106.0	108.0					11																	105789611		2202	4299	6501	SO:0001819	synonymous_variant	0				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105789611C>A	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.1443C>A	11.37:g.105789611C>A						GRIA4_ENST00000530497.1_Silent_p.I481I|GRIA4_ENST00000525187.1_Silent_p.I481I|GRIA4_ENST00000282499.5_Silent_p.I481I	p.I481I	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	11	1889	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	481					Q86XE8	Silent	SNP	ENST00000530497.1	37	c.1443C>A	CCDS8333.1																																																																																				0.368	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			6	33	1	0	0.00307968	1	0.0033758	6	33				
HNRNPDL	9987	broad.mit.edu	37	4	83350461	83350461	+	Missense_Mutation	SNP	T	T	A			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr4:83350461T>A	ENST00000295470.5	-	1	558	c.383A>T	c.(382-384)aAt>aTt	p.N128I	HNRNPDL_ENST00000602300.1_Missense_Mutation_p.N9I|ENOPH1_ENST00000509635.1_5'Flank|HNRNPDL_ENST00000514511.1_5'UTR|HNRNPDL_ENST00000502762.1_Missense_Mutation_p.N128I|ENOPH1_ENST00000273920.3_5'Flank|HNRNPDL_ENST00000349655.4_Missense_Mutation_p.N9I	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	128					regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|single-stranded DNA binding (GO:0003697)										TTCCTCTATATTGCTGTACTC	0.627																																						ENST00000295470.5																			0											c.(382-384)aAt>aTt		heterogeneous nuclear ribonucleoprotein D-like							106.0	117.0	114.0					4																	83350461		2203	4300	6503	SO:0001583	missense	9987							g.chr4:83350461T>A	D89092	CCDS3593.1, CCDS75153.1	4q21.22	2013-06-12		2013-06-12	ENSG00000152795	ENSG00000152795		"""RNA binding motif (RRM) containing"""	5037	protein-coding gene	gene with protein product		607137		HNRPDL		10072754, 9524220	Standard	NM_001207000		Approved	JKTBP, laAUF1	uc003hmr.3	O14979	OTTHUMG00000130299	ENST00000295470.5:c.383A>T	4.37:g.83350461T>A	ENSP00000295470:p.Asn128Ile					HNRNPDL_ENST00000514511.1_5'UTR|HNRNPDL_ENST00000502762.1_Missense_Mutation_p.N128I|HNRNPDL_ENST00000602300.1_Missense_Mutation_p.N9I|HNRNPDL_ENST00000349655.4_Missense_Mutation_p.N9I	p.N128I	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1					1	558	-								Q6SPF2|Q7KZ74|Q7KZ75|Q96IM0|Q96S43	Missense_Mutation	SNP	ENST00000295470.5	37	c.383A>T	CCDS3593.1	.	.	.	.	.	.	.	.	.	.	t	15.24	2.775883	0.49786	.	.	ENSG00000152795	ENST00000295470;ENST00000502762;ENST00000349655	T;T;T	0.68624	-0.34;-0.34;-0.07	4.76	4.76	0.60689	.	0.000000	0.45126	D	0.000399	T	0.51941	0.1704	L	0.36672	1.1	0.29734	N	0.837652	P;P	0.42827	0.662;0.791	B;B	0.34931	0.157;0.192	T	0.60944	-0.7162	10	0.72032	D	0.01	.	10.2799	0.43532	0.0:0.0:0.1658:0.8342	.	9;128	O14979-3;O14979	.;HNRDL_HUMAN	I	128;128;9	ENSP00000295470:N128I;ENSP00000422040:N128I;ENSP00000338552:N9I	ENSP00000295470:N128I	N	-	2	0	HNRPDL	83569485	1.000000	0.71417	1.000000	0.80357	0.497000	0.33675	3.026000	0.49689	2.001000	0.58596	0.397000	0.26171	AAT		0.627	HNRNPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252644.1	NM_005463		59	59	0	0	0	1	0	59	59				
SOX6	55553	broad.mit.edu	37	11	16007827	16007827	+	Silent	SNP	G	G	A			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr11:16007827G>A	ENST00000352083.6	-	15	2183	c.2106C>T	c.(2104-2106)ggC>ggT	p.G702G	SOX6_ENST00000528252.1_Silent_p.G675G|SOX6_ENST00000527619.1_Silent_p.G678G|SOX6_ENST00000316399.6_Silent_p.G682G|SOX6_ENST00000396356.3_Silent_p.G682G|SOX6_ENST00000528429.1_Silent_p.G702G			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	702					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						GAAGCTTTTTGCCATCAACAA	0.458																																						ENST00000352083.6																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						c.(2104-2106)ggC>ggT		SRY (sex determining region Y)-box 6							216.0	204.0	208.0					11																	16007827		2200	4294	6494	SO:0001819	synonymous_variant	55553				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:16007827G>A	AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"""SRY (sex determining region Y)-boxes"""	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.2106C>T	11.37:g.16007827G>A						SOX6_ENST00000527619.1_Silent_p.G678G|SOX6_ENST00000316399.6_Silent_p.G682G|SOX6_ENST00000528429.1_Silent_p.G702G|SOX6_ENST00000396356.3_Silent_p.G682G|SOX6_ENST00000528252.1_Silent_p.G675G	p.G702G			P35712	SOX6_HUMAN			15	2183	-			702					Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Silent	SNP	ENST00000352083.6	37	c.2106C>T																																																																																					0.458	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326		49	116	0	0	0	1	0	49	116				
DUSP27	92235	broad.mit.edu	37	1	167095398	167095400	+	In_Frame_Del	DEL	GAG	GAG	-	rs372437301		TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr1:167095398_167095400delGAG	ENST00000361200.2	+	6	1196_1198	c.1030_1032delGAG	c.(1030-1032)gagdel	p.E348del	DUSP27_ENST00000271385.5_In_Frame_Del_p.E348del|DUSP27_ENST00000485151.1_3'UTR|DUSP27_ENST00000443333.1_In_Frame_Del_p.E348del			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	348					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CCTCATAGACGAGGAGGAGGAGG	0.655																																						ENST00000361200.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						c.(1030-1032)del		dual specificity phosphatase 27 (putative)				121,4133		6,109,2012						-6.5	0.0			29	285,7951		13,259,3846	no	coding	DUSP27	NM_001080426.1		19,368,5858	A1A1,A1R,RR		3.4604,2.8444,3.2506				406,12084				SO:0001651	inframe_deletion	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167095398_167095400delGAG	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.1030_1032delGAG	1.37:g.167095407_167095409delGAG	ENSP00000354483:p.Glu348del					DUSP27_ENST00000443333.1_In_Frame_Del_p.E348del|DUSP27_ENST00000485151.1_3'UTR|DUSP27_ENST00000271385.5_In_Frame_Del_p.E348del	p.E348del			Q5VZP5	DUS27_HUMAN			6	1196_1198	+			348					A0AUM4|Q9C074	In_Frame_Del	DEL	ENST00000361200.2	37	c.1030_1032delGAG	CCDS30932.1																																																																																				0.655	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		2	4						2	4	---	---	---	---
SOX14	8403	broad.mit.edu	37	3	137484144	137484149	+	In_Frame_Del	DEL	AGAACG	AGAACG	-			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr3:137484144_137484149delAGAACG	ENST00000306087.1	+	1	566_571	c.518_523delAGAACG	c.(517-525)cagaacggc>cgc	p.173_175QNG>R		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	173					entrainment of circadian clock (GO:0009649)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|regulation of neuron migration (GO:2001222)|visual perception (GO:0007601)	nuclear transcription factor complex (GO:0044798)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			large_intestine(2)|lung(12)	14						CTGGGCTACCAGAACGGCGCCTTCGG	0.675																																						ENST00000306087.1																			0				large_intestine(2)|lung(12)	14						c.(517-525)cgc>c		SRY (sex determining region Y)-box 14																																				SO:0001651	inframe_deletion	8403				negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding	g.chr3:137484144_137484149delAGAACG	AJ006230	CCDS3094.1	3q22-q23	2008-07-18			ENSG00000168875	ENSG00000168875		"""SRY (sex determining region Y)-boxes"""	11193	protein-coding gene	gene with protein product	"""HMG box transcription factor SOX-14"", ""SRY-box 14"""	604747				9925951	Standard	NM_004189		Approved	SOX28	uc003erm.2	O95416	OTTHUMG00000159757	ENST00000306087.1:c.518_523delAGAACG	3.37:g.137484144_137484149delAGAACG	ENSP00000305343:p.Gln173_Gly175delinsArg						p.QNG173del	NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN			1	566_571	+			173					B2RAC0|Q3KPH7	In_Frame_Del	DEL	ENST00000306087.1	37	c.518_523delAGAACG	CCDS3094.1																																																																																				0.675	SOX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357182.1	NM_004189		3	3						3	3	---	---	---	---
KIF25	3834	broad.mit.edu	37	6	168442674	168442674	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr6:168442674delC	ENST00000443060.2	+	8	1063	c.672delC	c.(670-672)ctcfs	p.L224fs	KIF25_ENST00000354419.2_Frame_Shift_Del_p.L224fs|KIF25_ENST00000351261.3_Frame_Shift_Del_p.L224fs			Q9UIL4	KIF25_HUMAN	kinesin family member 25	224	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GTGCCACCCTCCCCAGGGAGC	0.612																																						ENST00000443060.2																			0				NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(670-672)ctfs		kinesin family member 25							26.0	27.0	26.0					6																	168442674		2119	4168	6287	SO:0001589	frameshift_variant	0				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr6:168442674delC	AB012722	CCDS5305.1, CCDS43530.1	6q27	2008-02-05	2003-01-09	2003-01-10	ENSG00000125337	ENSG00000125337		"""Kinesins"""	6390	protein-coding gene	gene with protein product		603815	"""kinesin-like 3"""	KNSL3		9925910	Standard	NM_030615		Approved		uc003qwk.1	Q9UIL4	OTTHUMG00000016035	ENST00000443060.2:c.672delC	6.37:g.168442674delC	ENSP00000388878:p.Leu224fs					KIF25_ENST00000354419.2_Frame_Shift_Del_p.L224fs|KIF25_ENST00000351261.3_Frame_Shift_Del_p.L224fs	p.L224fs			Q9UIL4	KIF25_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	8	1063	+		Breast(66;1.07e-05)|Ovarian(120;0.0728)	224			Kinesin-motor.		O94775|Q5SZU9	Frame_Shift_Del	DEL	ENST00000443060.2	37	c.672delC	CCDS5305.1																																																																																				0.612	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362509.1			2	4						2	4	---	---	---	---
CCT6P3	643180	broad.mit.edu	37	7	64532708	64532709	+	RNA	INS	-	-	A			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr7:64532708_64532709insA	ENST00000426828.1	+	0	1228				SNORA15_ENST00000384334.1_RNA	NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		AAATGGGGACCAAAAAAAAAAA	0.351																																						ENST00000426828.1																			0																																																			0							g.chr7:64532708_64532709insA			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64532719_64532719dupA								NR_033416.1						0	1228	+									RNA	INS	ENST00000426828.1	37																																																																																						0.351	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1			2	4						2	4	---	---	---	---
CHRNA6	8973	broad.mit.edu	37	8	42611170	42611171	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr8:42611170_42611171delTG	ENST00000276410.2	-	5	1526_1527	c.1171_1172delCA	c.(1171-1173)catfs	p.H391fs	CHRNA6_ENST00000534622.1_Frame_Shift_Del_p.H376fs|CHRNA6_ENST00000530869.1_5'Flank	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	391					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|membrane depolarization (GO:0051899)|regulation of dopamine secretion (GO:0014059)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)|Varenicline(DB01273)	TTCTTTAAGATGTCTGGGTTCC	0.515																																						ENST00000276410.2																			0				endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22						c.(1171-1173)tfs		cholinergic receptor, nicotinic, alpha 6 (neuronal)																																				SO:0001589	frameshift_variant	8973					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr8:42611170_42611171delTG	U62435	CCDS6135.1, CCDS56536.1	8p22	2012-02-11	2012-02-07					"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	15963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 6 (neuronal)"""	606888	"""cholinergic receptor, nicotinic, alpha polypeptide 6"""			8906617	Standard	NM_004198		Approved		uc003xpj.3	Q15825		ENST00000276410.2:c.1171_1172delCA	8.37:g.42611170_42611171delTG	ENSP00000276410:p.His391fs					CHRNA6_ENST00000534622.1_Frame_Shift_Del_p.H376fs	p.H391fs	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		5	1526_1527	-	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	391					B2R8V4|B4DQH1	Frame_Shift_Del	DEL	ENST00000276410.2	37	c.1171_1172delCA	CCDS6135.1																																																																																				0.515	CHRNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383156.1			36	69						36	69	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49434024	49434024	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr12:49434024delA	ENST00000301067.7	-	31	7528	c.7529delT	c.(7528-7530)gtcfs	p.V2510fs	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2510	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CCCACTTGGGACCTTGGCATG	0.652																																						ENST00000301067.7																			0											c.(7528-7530)gcfs		lysine (K)-specific methyltransferase 2D							15.0	18.0	17.0					12																	49434024		1863	4069	5932	SO:0001589	frameshift_variant	8085							g.chr12:49434024delA	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.7529delT	12.37:g.49434024delA	ENSP00000301067:p.Val2510fs						p.V2510fs	NM_003482.3	NP_003473.3					31	7528	-								O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	c.7529delT	CCDS44873.1																																																																																				0.652	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			10	19						10	19	---	---	---	---
VASN	114990	broad.mit.edu	37	16	4432596	4432597	+	Frame_Shift_Ins	INS	-	-	C	rs76495149		TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr16:4432596_4432597insC	ENST00000304735.3	+	2	1873_1874	c.1718_1719insC	c.(1717-1722)aacctgfs	p.L574fs	CORO7_ENST00000537233.2_Intron|CORO7_ENST00000423908.2_Intron|CORO7_ENST00000574025.1_Intron|CORO7_ENST00000539968.1_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000251166.4_Intron	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN	vasorin	574					cellular response to hypoxia (GO:0071456)|cellular response to redox state (GO:0071461)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	transforming growth factor beta binding (GO:0050431)	p.N573T(1)		breast(1)|lung(3)|prostate(1)|skin(1)	6						CGCGAGGGCAACCTGCCGCTCC	0.772																																						ENST00000304735.3																			1	Substitution - Missense(1)	p.N573T(1)	prostate(1)	breast(1)|lung(3)|prostate(1)|skin(1)	6						c.(1717-1719)actfs		vasorin																																				SO:0001589	frameshift_variant	114990					extracellular region|integral to membrane		g.chr16:4432596_4432597insC	AY358299	CCDS10514.1	16p13.3	2008-02-05	2006-03-30	2006-03-30	ENSG00000168140	ENSG00000168140			18517	protein-coding gene	gene with protein product		608843	"""slit-like 2 (Drosophila)"""	SLITL2		15247411	Standard	NM_138440		Approved		uc002cwj.1	Q6EMK4	OTTHUMG00000129469	ENST00000304735.3:c.1720dupC	16.37:g.4432598_4432598dupC	ENSP00000306864:p.Leu574fs					CORO7_ENST00000537233.2_Intron|CORO7_ENST00000251166.4_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000574025.1_Intron|CORO7_ENST00000423908.2_Intron|CORO7_ENST00000539968.1_Intron	p.T573fs	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN			2	1873_1874	+			573					Q6UXL4|Q6UXL5|Q96CX1	Frame_Shift_Ins	INS	ENST00000304735.3	37	c.1718_1719insC	CCDS10514.1																																																																																				0.772	VASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251632.1	NM_138440		2	4						2	4	---	---	---	---
KAL1	3730	broad.mit.edu	37	X	8503766	8503766	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chrX:8503766delA	ENST00000262648.3	-	12	1857	c.1708delT	c.(1708-1710)tctfs	p.S570fs	KAL1_ENST00000481896.1_5'UTR	NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	570	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						ATCTTCCAAGAAAAGTGACCG	0.488																																						ENST00000262648.3																			0				breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						c.(1708-1710)ctfs		Kallmann syndrome 1 sequence							127.0	98.0	108.0					X																	8503766		2203	4300	6503	SO:0001589	frameshift_variant	3730				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity	g.chrX:8503766delA		CCDS14130.1	Xp22.32	2013-02-11			ENSG00000011201	ENSG00000011201		"""WAP four-disulfide core domain containing"", ""Fibronectin type III domain containing"""	6211	protein-coding gene	gene with protein product	"""anosmin-1"", ""WAP four-disulfide core domain 19"""	300836		KAL, ADMLX		11463336	Standard	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	P23352	OTTHUMG00000021107	ENST00000262648.3:c.1708delT	X.37:g.8503766delA	ENSP00000262648:p.Ser570fs					KAL1_ENST00000481896.1_5'UTR	p.S570fs	NM_000216.2	NP_000207.2	P23352	KALM_HUMAN			12	1857	-			570			Fibronectin type-III 4.		B2RPF8	Frame_Shift_Del	DEL	ENST00000262648.3	37	c.1708delT	CCDS14130.1																																																																																				0.488	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055692.1	NM_000216		31	14						31	14	---	---	---	---
