#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
RRNAD1	51093	broad.mit.edu	37	1	156704062	156704062	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr1:156704062C>T	ENST00000368216.4	+	6	1528	c.898C>T	c.(898-900)Cag>Tag	p.Q300*	RRNAD1_ENST00000476229.1_Intron|RRNAD1_ENST00000368218.4_Intron	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	300						integral component of membrane (GO:0016021)	rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						CCCACTGAGTCAGTGGGTGGC	0.627																																						ENST00000368216.4																			0				NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						c.(898-900)Cag>Tag		ribosomal RNA adenine dimethylase domain containing 1							57.0	54.0	55.0					1																	156704062		2203	4300	6503	SO:0001587	stop_gained	51093					integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity	g.chr1:156704062C>T	BC011382	CCDS1154.1, CCDS44246.1	1q23.1	2011-01-28	2011-01-28	2011-01-28	ENSG00000143303	ENSG00000143303			24273	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 66"""	C1orf66		10810093, 310876	Standard	NM_015997		Approved	CGI-41	uc001fpu.3	Q96FB5	OTTHUMG00000041302	ENST00000368216.4:c.898C>T	1.37:g.156704062C>T	ENSP00000357199:p.Gln300*					RRNAD1_ENST00000476229.1_Intron|RRNAD1_ENST00000368218.4_Intron	p.Q300*	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN			6	1528	+			300					D3DVC7|Q4VX71|Q5SZ03|Q9Y358	Nonsense_Mutation	SNP	ENST00000368216.4	37	c.898C>T	CCDS1154.1	.	.	.	.	.	.	.	.	.	.	C	32	5.142065	0.94560	.	.	ENSG00000143303	ENST00000368216;ENST00000519086	.	.	.	5.28	3.27	0.37495	.	0.501719	0.22476	N	0.059545	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.8351	3.5574	0.07869	0.177:0.5618:0.1708:0.0905	.	.	.	.	X	300;279	.	ENSP00000357199:Q300X	Q	+	1	0	RRNAD1	154970686	0.147000	0.22687	1.000000	0.80357	0.980000	0.70556	0.029000	0.13666	1.227000	0.43598	-0.305000	0.09177	CAG		0.627	RRNAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098973.1	NM_015997		8	43	8	43	---	---	---	---
COL6A6	131873	broad.mit.edu	37	3	130289977	130289977	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr3:130289977G>A	ENST00000358511.6	+	6	2748	c.2717G>A	c.(2716-2718)cGc>cAc	p.R906H	COL6A6_ENST00000453409.2_Missense_Mutation_p.R906H	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	906	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CGGGGCAGCCGCCTGAACAAG	0.547																																						ENST00000358511.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(2716-2718)cGc>cAc		collagen, type VI, alpha 6							39.0	41.0	40.0					3																	130289977		1884	4098	5982	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130289977G>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.2717G>A	3.37:g.130289977G>A	ENSP00000351310:p.Arg906His					COL6A6_ENST00000453409.2_Missense_Mutation_p.R906H	p.R906H	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			6	2748	+			906			Nonhelical region.|VWFA 5.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.2717G>A	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928298	0.92389	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.88046	-2.33;-2.33	4.92	4.92	0.64577	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000018	D	0.95487	0.8534	H	0.94925	3.6	0.54753	D	0.999983	D	0.89917	1.0	D	0.87578	0.998	D	0.96746	0.9550	10	0.87932	D	0	.	18.0758	0.89426	0.0:0.0:1.0:0.0	.	906	A6NMZ7	CO6A6_HUMAN	H	906	ENSP00000351310:R906H;ENSP00000399236:R906H	ENSP00000351310:R906H	R	+	2	0	COL6A6	131772667	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.436000	0.97532	2.460000	0.83146	0.561000	0.74099	CGC		0.547	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		5	18	5	18	---	---	---	---
PCDHB15	56121	broad.mit.edu	37	5	140627360	140627360	+	Silent	SNP	C	C	T			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr5:140627360C>T	ENST00000231173.3	+	1	2214	c.2214C>T	c.(2212-2214)gaC>gaT	p.D738D		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	738					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)			ATCTGGTGGACGTGAGCGGCA	0.602																																						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.(2212-2214)gaC>gaT									103.0	117.0	112.0					5																	140627360		2203	4297	6500	SO:0001819	synonymous_variant	56121				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140627360C>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.2214C>T	5.37:g.140627360C>T							p.D738D	NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2214	+			738					Q8IUX5	Silent	SNP	ENST00000231173.3	37	c.2214C>T	CCDS4257.1																																																																																				0.602	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		5	180	5	180	---	---	---	---
MIOS	54468	broad.mit.edu	37	7	7613322	7613322	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr7:7613322A>G	ENST00000340080.4	+	4	1637	c.1216A>G	c.(1216-1218)Aca>Gca	p.T406A	MIOS_ENST00000405785.1_Missense_Mutation_p.T406A	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	406						lysosomal membrane (GO:0005765)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGGACTTGATACAGAGCAGGT	0.373																																						ENST00000340080.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1216-1218)Aca>Gca		missing oocyte, meiosis regulator, homolog (Drosophila)							93.0	88.0	90.0					7																	7613322		1873	4111	5984	SO:0001583	missense	54468							g.chr7:7613322A>G		CCDS43554.1	7p21.3	2011-09-12			ENSG00000164654	ENSG00000164654			21905	protein-coding gene	gene with protein product	"""WD repeat-containing protein mio"""	615359				14973288	Standard	NM_019005		Approved	FLJ20323	uc003srf.3	Q9NXC5	OTTHUMG00000152440	ENST00000340080.4:c.1216A>G	7.37:g.7613322A>G	ENSP00000339881:p.Thr406Ala					MIOS_ENST00000405785.1_Missense_Mutation_p.T406A	p.T406A	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN			4	1637	+			406					B2RTV6|O75216|Q7L551|Q9H092	Missense_Mutation	SNP	ENST00000340080.4	37	c.1216A>G	CCDS43554.1	.	.	.	.	.	.	.	.	.	.	A	9.620	1.133640	0.21123	.	.	ENSG00000164654	ENST00000340080;ENST00000405785	T;T	0.41758	0.99;0.99	5.7	5.7	0.88788	.	0.049316	0.85682	D	0.000000	T	0.31231	0.0790	L	0.32530	0.975	0.80722	D	1	B	0.15719	0.014	B	0.20955	0.032	T	0.14420	-1.0473	10	0.02654	T	1	-19.3527	16.275	0.82640	1.0:0.0:0.0:0.0	.	406	Q9NXC5	MIO_HUMAN	A	406	ENSP00000339881:T406A;ENSP00000384088:T406A	ENSP00000339881:T406A	T	+	1	0	MIOS	7579847	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.896000	0.92521	2.299000	0.77371	0.528000	0.53228	ACA		0.373	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326218.1	NM_019005		5	81	5	81	---	---	---	---
RP1	6101	broad.mit.edu	37	8	55538088	55538088	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr8:55538088T>C	ENST00000220676.1	+	4	1794	c.1646T>C	c.(1645-1647)gTt>gCt	p.V549A		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	549					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGTGCTGGTGTTATAGAAATT	0.333																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(1645-1647)gTt>gCt		retinitis pigmentosa 1 (autosomal dominant)							80.0	83.0	82.0					8																	55538088		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55538088T>C	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.1646T>C	8.37:g.55538088T>C	ENSP00000220676:p.Val549Ala						p.V549A	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	1794	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	549						Missense_Mutation	SNP	ENST00000220676.1	37	c.1646T>C	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	T	10.13	1.265590	0.23136	.	.	ENSG00000104237	ENST00000220676	T	0.29142	1.58	5.52	4.37	0.52481	.	0.419548	0.20074	N	0.099796	T	0.22975	0.0555	L	0.39898	1.24	0.20307	N	0.999919	B	0.29909	0.261	B	0.20184	0.028	T	0.10941	-1.0608	10	0.33141	T	0.24	.	10.5982	0.45352	0.0:0.0761:0.0:0.9239	.	549	P56715	RP1_HUMAN	A	549	ENSP00000220676:V549A	ENSP00000220676:V549A	V	+	2	0	RP1	55700641	0.991000	0.36638	0.901000	0.35422	0.969000	0.65631	1.793000	0.38764	0.942000	0.37525	0.528000	0.53228	GTT		0.333	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		19	33	19	33	---	---	---	---
RALYL	138046	broad.mit.edu	37	8	85441793	85441793	+	Silent	SNP	C	C	G			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr8:85441793C>G	ENST00000521268.1	+	2	1342	c.237C>G	c.(235-237)gtC>gtG	p.V79V	RALYL_ENST00000518566.1_Silent_p.V79V|RALYL_ENST00000522455.1_Silent_p.V79V|RALYL_ENST00000517638.1_Silent_p.V92V|RALYL_ENST00000521695.1_Silent_p.V79V	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	79	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						ATGCCAGAGTCATCGCCGGCC	0.428																																						ENST00000521268.1																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						c.(235-237)gtC>gtG		RALY RNA binding protein-like							50.0	53.0	52.0					8																	85441793		2051	4205	6256	SO:0001819	synonymous_variant	138046						identical protein binding|nucleotide binding|RNA binding	g.chr8:85441793C>G		CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"""RNA binding motif (RRM) containing"""	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.237C>G	8.37:g.85441793C>G						RALYL_ENST00000518566.1_Silent_p.V79V|RALYL_ENST00000517638.1_Silent_p.V92V|RALYL_ENST00000521695.1_Silent_p.V79V|RALYL_ENST00000522455.1_Silent_p.V79V	p.V79V	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN			2	1342	+			79			RRM.		B3KTH2|G3V129|Q6ZW87|Q8N1C2	Silent	SNP	ENST00000521268.1	37	c.237C>G	CCDS55253.1																																																																																				0.428	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1			3	39	3	39	---	---	---	---
RCL1	10171	broad.mit.edu	37	9	4834198	4834198	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr9:4834198G>A	ENST00000381750.4	+	5	740	c.517G>A	c.(517-519)Gtg>Atg	p.V173M	RCL1_ENST00000381730.1_5'Flank	NM_005772.3	NP_005763.3	Q9Y2P8	RCL1_HUMAN	RNA terminal phosphate cyclase-like 1	173					ribosome biogenesis (GO:0042254)|RNA processing (GO:0006396)	nucleolus (GO:0005730)	catalytic activity (GO:0003824)			breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0244)		CTCATGTCCTGTGAGGAAGGT	0.463																																						ENST00000381750.4																			0				breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9						c.(517-519)Gtg>Atg		RNA terminal phosphate cyclase-like 1							101.0	90.0	94.0					9																	4834198		2203	4300	6503	SO:0001583	missense	10171				ribosome biogenesis|RNA processing	nucleolus	RNA-3'-phosphate cyclase activity	g.chr9:4834198G>A	AJ276894	CCDS6456.1, CCDS69565.1, CCDS75810.1	9p24.1-p23	2008-02-05			ENSG00000120158	ENSG00000120158			17687	protein-coding gene	gene with protein product		611405					Standard	NM_001286701		Approved	RPCL1, RNAC	uc003zis.2	Q9Y2P8	OTTHUMG00000019474	ENST00000381750.4:c.517G>A	9.37:g.4834198G>A	ENSP00000371169:p.Val173Met						p.V173M	NM_005772.3	NP_005763.3	Q9Y2P8	RCL1_HUMAN		GBM - Glioblastoma multiforme(50;0.0244)	5	740	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)	173					D3DRI2|Q5VYW9|Q5VZU1|Q9H9D0|Q9NY00|Q9P044	Missense_Mutation	SNP	ENST00000381750.4	37	c.517G>A	CCDS6456.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.293712	0.40594	.	.	ENSG00000120158	ENST00000381750;ENST00000442869	.	.	.	6.02	3.23	0.37069	-terminal phosphate cyclase-like, eukaryotic (2);-terminal phosphate cyclase domain (2);RNA 3&apos (6);-terminal phosphate cyclase/enolpyruvate transferase, alpha/beta (1);-terminal phosphate cyclase (1);	0.632035	0.15880	N	0.240086	T	0.51924	0.1703	M	0.64080	1.96	0.58432	D	0.999998	P	0.34699	0.464	B	0.33121	0.158	T	0.40346	-0.9568	9	0.33940	T	0.23	-8.9346	10.1612	0.42853	0.2634:0.0:0.7366:0.0	.	173	Q9Y2P8	RCL1_HUMAN	M	173;15	.	ENSP00000371169:V173M	V	+	1	0	RCL1	4824198	1.000000	0.71417	0.545000	0.28153	0.323000	0.28346	3.009000	0.49552	0.448000	0.26722	-0.157000	0.13467	GTG		0.463	RCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051587.1	NM_005772		17	18	17	18	---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6649894	6649894	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr11:6649894G>C	ENST00000299441.3	-	13	5740	c.5329C>G	c.(5329-5331)Cca>Gca	p.P1777A	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1777	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCACATCTGGATCAGAGGCC	0.567																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(5329-5331)Cca>Gca		dachsous cadherin-related 1							106.0	96.0	99.0					11																	6649894		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6649894G>C	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.5329C>G	11.37:g.6649894G>C	ENSP00000299441:p.Pro1777Ala						p.P1777A	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	13	5740	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	1777			Cadherin 17.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.5329C>G	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.695931	0.48202	.	.	ENSG00000166341	ENST00000299441	T	0.48201	0.82	4.91	4.91	0.64330	Cadherin (4);Cadherin-like (1);	0.000000	0.44902	D	0.000409	T	0.37812	0.1017	N	0.25825	0.765	0.29495	N	0.85534	P	0.48162	0.906	P	0.49085	0.6	T	0.22521	-1.0214	10	0.02654	T	1	.	13.0742	0.59077	0.0:0.1611:0.8389:0.0	.	1777	Q96JQ0	PCD16_HUMAN	A	1777	ENSP00000299441:P1777A	ENSP00000299441:P1777A	P	-	1	0	DCHS1	6606470	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	4.216000	0.58540	2.561000	0.86390	0.563000	0.77884	CCA		0.567	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		23	42	23	42	---	---	---	---
TENM4	26011	broad.mit.edu	37	11	78381219	78381219	+	Silent	SNP	G	G	A			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr11:78381219G>A	ENST00000278550.7	-	32	6633	c.6171C>T	c.(6169-6171)taC>taT	p.Y2057Y		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2057					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										CAATCTGACGGTAGCGGATGG	0.532																																						ENST00000278550.7																			0											c.(6169-6171)taC>taT		teneurin transmembrane protein 4							67.0	79.0	75.0					11																	78381219		2105	4206	6311	SO:0001819	synonymous_variant	26011							g.chr11:78381219G>A	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.6171C>T	11.37:g.78381219G>A							p.Y2057Y	NM_001098816.2	NP_001092286.2					32	6633	-								A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	ENST00000278550.7	37	c.6171C>T	CCDS44688.1																																																																																				0.532	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			3	32	3	32	---	---	---	---
KDM4E	390245	broad.mit.edu	37	11	94759491	94759491	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr11:94759491C>T	ENST00000450979.2	+	1	1070	c.770C>T	c.(769-771)cCc>cTc	p.P257L		NM_001161630.1	NP_001155102.1	B2RXH2	KDM4E_HUMAN	lysine (K)-specific demethylase 4E	257	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K9 demethylation (GO:0033169)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(1)|lung(3)	12						AATGGGATTCCCTTCAATTGC	0.547																																						ENST00000450979.2																			0				breast(1)|endometrium(7)|kidney(1)|lung(3)	12						c.(769-771)cCc>cTc		lysine (K)-specific demethylase 4E							26.0	26.0	26.0					11																	94759491		692	1591	2283	SO:0001583	missense	390245				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:94759491C>T	BC157851	CCDS44713.1	11q21	2012-03-30	2012-03-28	2012-03-28		ENSG00000235268		"""Chromatin-modifying enzymes / K-demethylases"""	37098	protein-coding gene	gene with protein product			"""lysine (K)-specific demethylase 4D-like"""	KDM4DL		21076780	Standard	NM_001161630		Approved	JMJD2E	uc010ruf.1	B2RXH2		ENST00000450979.2:c.770C>T	11.37:g.94759491C>T	ENSP00000397239:p.Pro257Leu						p.P257L	NM_001161630.1	NP_001155102.1	B2RXH2	KD4DL_HUMAN			1	1070	+			257			JmjC.			Missense_Mutation	SNP	ENST00000450979.2	37	c.770C>T	CCDS44713.1	.	.	.	.	.	.	.	.	.	.	c	12.73	2.025958	0.35701	.	.	ENSG00000235268	ENST00000450979	T	0.74209	-0.82	2.18	2.18	0.27775	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	.	.	.	.	D	0.87014	0.6072	M	0.91300	3.195	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	D	0.88446	0.3045	9	0.87932	D	0	-21.1033	10.4356	0.44433	0.0:1.0:0.0:0.0	.	257	B2RXH2	KD4DL_HUMAN	L	257	ENSP00000397239:P257L	ENSP00000397239:P257L	P	+	2	0	KDM4DL	94399139	1.000000	0.71417	0.414000	0.26521	0.040000	0.13550	3.053000	0.49901	1.543000	0.49345	0.455000	0.32223	CCC		0.547	KDM4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396649.1	NM_001161630		10	30	10	30	---	---	---	---
PTPRO	5800	broad.mit.edu	37	12	15742420	15742420	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr12:15742420G>A	ENST00000281171.4	+	25	3772	c.3442G>A	c.(3442-3444)Gcc>Acc	p.A1148T	PTPRO_ENST00000445537.2_Missense_Mutation_p.A337T|PTPRO_ENST00000544244.1_Missense_Mutation_p.A309T|PTPRO_ENST00000348962.2_Missense_Mutation_p.A1120T|PTPRO_ENST00000542557.1_Missense_Mutation_p.A309T|PTPRO_ENST00000442921.2_Missense_Mutation_p.A337T	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1148	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				AACATTCATTGCCCTGGACAG	0.468																																						ENST00000281171.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74						c.(3442-3444)Gcc>Acc		protein tyrosine phosphatase, receptor type, O							207.0	187.0	194.0					12																	15742420		2203	4300	6503	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15742420G>A	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.3442G>A	12.37:g.15742420G>A	ENSP00000281171:p.Ala1148Thr					PTPRO_ENST00000442921.2_Missense_Mutation_p.A337T|PTPRO_ENST00000348962.2_Missense_Mutation_p.A1120T|PTPRO_ENST00000544244.1_Missense_Mutation_p.A309T|PTPRO_ENST00000445537.2_Missense_Mutation_p.A337T|PTPRO_ENST00000542557.1_Missense_Mutation_p.A309T	p.A1148T	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN			25	3772	+		Hepatocellular(102;0.244)	1148			Tyrosine-protein phosphatase.		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.3442G>A	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.934626	0.92458	.	.	ENSG00000151490	ENST00000281171;ENST00000348962;ENST00000442921;ENST00000542557;ENST00000445537;ENST00000544244	T;T;T;T;T;T	0.15372	2.43;2.43;2.43;2.43;2.43;2.43	5.1	4.21	0.49690	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.49305	D	0.000146	T	0.26629	0.0651	L	0.52364	1.645	0.58432	D	0.999999	B;D;D	0.63046	0.232;0.99;0.992	B;P;P	0.57283	0.143;0.721;0.817	T	0.03969	-1.0988	10	0.12103	T	0.63	.	13.5246	0.61586	0.0747:0.0:0.9253:0.0	.	309;1120;1148	Q9UBT5;Q16827-2;Q16827	.;.;PTPRO_HUMAN	T	1148;1120;337;309;337;309	ENSP00000281171:A1148T;ENSP00000343434:A1120T;ENSP00000404188:A337T;ENSP00000437571:A309T;ENSP00000393449:A337T;ENSP00000439234:A309T	ENSP00000281171:A1148T	A	+	1	0	PTPRO	15633687	1.000000	0.71417	0.953000	0.39169	0.954000	0.61252	7.652000	0.83633	1.383000	0.46405	0.561000	0.74099	GCC		0.468	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			47	105	47	105	---	---	---	---
PAN2	9924	broad.mit.edu	37	12	56722258	56722258	+	Silent	SNP	G	G	A			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr12:56722258G>A	ENST00000425394.2	-	3	826	c.450C>T	c.(448-450)taC>taT	p.Y150Y	PAN2_ENST00000440411.3_Silent_p.Y150Y|PAN2_ENST00000257931.5_Silent_p.Y150Y|PAN2_ENST00000548043.1_Silent_p.Y150Y	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	CCACTTACAGGTAATCAAATA	0.502																																						ENST00000425394.2																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(448-450)taC>taT		PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)							97.0	100.0	99.0					12																	56722258		2203	4300	6503	SO:0001819	synonymous_variant	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56722258G>A	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.450C>T	12.37:g.56722258G>A						PAN2_ENST00000440411.3_Silent_p.Y150Y|PAN2_ENST00000548043.1_Silent_p.Y150Y|PAN2_ENST00000257931.5_Silent_p.Y150Y	p.Y150Y	NM_001127460.2	NP_001120932	Q504Q3	PAN2_HUMAN			3	826	-			150						Silent	SNP	ENST00000425394.2	37	c.450C>T	CCDS44922.1																																																																																				0.502	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		4	155	4	155	---	---	---	---
RNASE7	84659	broad.mit.edu	37	14	21511516	21511516	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr14:21511516A>G	ENST00000298690.4	+	2	622	c.365A>G	c.(364-366)aAa>aGa	p.K122R	NDRG2_ENST00000403829.3_Intron	NM_032572.3	NP_115961	Q9H1E1	RNAS7_HUMAN	ribonuclease, RNase A family, 7	122					antibacterial humoral response (GO:0019731)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|membrane disruption in other organism (GO:0051673)|response to bacterium (GO:0009617)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endonuclease activity (GO:0004519)|lipopolysaccharide binding (GO:0001530)|nucleic acid binding (GO:0003676)|peptidoglycan binding (GO:0042834)|ribonuclease activity (GO:0004540)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0191)		TGCAGGTACAAAGAGAAGCGA	0.532																																						ENST00000298690.4																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6						c.(364-366)aAa>aGa		ribonuclease, RNase A family, 7							133.0	128.0	130.0					14																	21511516		2203	4300	6503	SO:0001583	missense	84659				defense response to bacterium|innate immune response	extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21511516A>G	AJ131212	CCDS41914.1	14q11.1	2013-02-15			ENSG00000165799	ENSG00000165799		"""Ribonucleases, RNase A"""	19278	protein-coding gene	gene with protein product		612484				12244054, 12527768	Standard	NM_032572		Approved		uc001vzk.4	Q9H1E1	OTTHUMG00000171358	ENST00000298690.4:c.365A>G	14.37:g.21511516A>G	ENSP00000298690:p.Lys122Arg					NDRG2_ENST00000403829.3_Intron	p.K122R	NM_032572.3	NP_115961	Q9H1E1	RNAS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0191)	2	622	+	all_cancers(95;0.000759)		122					P80927|P83685|Q546N3	Missense_Mutation	SNP	ENST00000298690.4	37	c.365A>G	CCDS41914.1	.	.	.	.	.	.	.	.	.	.	A	10.66	1.412776	0.25465	.	.	ENSG00000165799	ENST00000298690	T	0.73047	-0.71	4.64	2.14	0.27477	Ribonuclease A, domain (4);	0.837778	0.10181	U	0.705816	T	0.61924	0.2386	N	0.20530	0.585	0.09310	N	1	B	0.31910	0.346	P	0.46320	0.512	T	0.56220	-0.8015	10	0.27082	T	0.32	-5.5454	4.6653	0.12662	0.7031:0.1941:0.1028:0.0	.	122	Q9H1E1	RNAS7_HUMAN	R	122	ENSP00000298690:K122R	ENSP00000298690:K122R	K	+	2	0	RNASE7	20581356	0.885000	0.30320	0.730000	0.30809	0.614000	0.37383	0.468000	0.22051	0.772000	0.33382	0.533000	0.62120	AAA		0.532	RNASE7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313936.1	NM_032572		15	134	15	134	---	---	---	---
OIP5	11339	broad.mit.edu	37	15	41624630	41624630	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr15:41624630C>T	ENST00000220514.3	-	1	189	c.130G>A	c.(130-132)Gtg>Atg	p.V44M	NUSAP1_ENST00000260359.6_5'Flank|NUSAP1_ENST00000450592.2_5'Flank|NUSAP1_ENST00000560177.1_5'Flank|NUSAP1_ENST00000559596.1_5'Flank|NUSAP1_ENST00000450318.1_5'Flank|NUSAP1_ENST00000414849.2_5'Flank|NUSAP1_ENST00000560747.1_5'Flank	NM_007280.1	NP_009211.1	O43482	MS18B_HUMAN	Opa interacting protein 5	44					cell communication (GO:0007154)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	Cajal body (GO:0015030)|chromatin (GO:0000785)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(3)|lung(1)|urinary_tract(1)	5		all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)		OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163)		GACCCCTTCACCACCTGCGTA	0.672																																						ENST00000220514.3																			0				endometrium(3)|lung(1)|urinary_tract(1)	5						c.(130-132)Gtg>Atg		Opa interacting protein 5							61.0	73.0	69.0					15																	41624630		2203	4298	6501	SO:0001583	missense	11339				cell communication|cell division|CenH3-containing nucleosome assembly at centromere|mitosis	Cajal body|chromatin|chromosome, centromeric region	protein binding	g.chr15:41624630C>T	AF025441	CCDS10074.1	15q14	2011-02-23			ENSG00000104147	ENSG00000104147			20300	protein-coding gene	gene with protein product	"""MIS18 kinetochore protein homolog B (S. pombe)"", ""cancer/testis antigen 86"""	606020				9466265, 17199038	Standard	NM_007280		Approved	MIS18B, hMIS18beta, CT86	uc001znp.3	O43482	OTTHUMG00000130251	ENST00000220514.3:c.130G>A	15.37:g.41624630C>T	ENSP00000220514:p.Val44Met						p.V44M	NM_007280.1	NP_009211.1	O43482	MS18B_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163)	1	189	-		all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)	44					Q96BX7	Missense_Mutation	SNP	ENST00000220514.3	37	c.130G>A	CCDS10074.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.312274	0.60414	.	.	ENSG00000104147	ENST00000220514	.	.	.	5.49	4.58	0.56647	.	0.335009	0.25194	N	0.032431	T	0.55273	0.1910	M	0.68317	2.08	0.30649	N	0.755662	D	0.56035	0.974	P	0.51135	0.66	T	0.63413	-0.6643	9	0.72032	D	0.01	-29.3754	11.5584	0.50761	0.0:0.9172:0.0:0.0828	.	44	O43482	MS18B_HUMAN	M	44	.	ENSP00000220514:V44M	V	-	1	0	OIP5	39411922	1.000000	0.71417	1.000000	0.80357	0.177000	0.22998	2.626000	0.46460	1.569000	0.49696	0.655000	0.94253	GTG		0.672	OIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252576.2	NM_007280		5	142	5	142	---	---	---	---
TCF12	6938	broad.mit.edu	37	15	57565238	57565238	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr15:57565238G>A	ENST00000267811.5	+	18	1988	c.1684G>A	c.(1684-1686)Gaa>Aaa	p.E562K	TCF12_ENST00000438423.2_Missense_Mutation_p.E586K|TCF12_ENST00000333725.5_Missense_Mutation_p.E586K|TCF12_ENST00000543579.1_Missense_Mutation_p.E416K|TCF12_ENST00000537840.1_Missense_Mutation_p.E326K|TCF12_ENST00000343827.3_Missense_Mutation_p.E392K|TCF12_ENST00000559710.1_Missense_Mutation_p.E196K|TCF12_ENST00000559703.1_Missense_Mutation_p.E219K|TCF12_ENST00000452095.2_Missense_Mutation_p.E582K|TCF12_ENST00000557843.1_Missense_Mutation_p.E562K	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	562					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CAGTACTAATGAAGATGAGGA	0.388			T	TEC	extraskeletal myxoid chondrosarcoma																																	ENST00000267811.5				Dom	yes		15	15q21	6938	T	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""			M	TEC		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)	0				breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(1684-1686)Gaa>Aaa		transcription factor 12							64.0	70.0	68.0					15																	57565238		2192	4292	6484	SO:0001583	missense	6938				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:57565238G>A	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.1684G>A	15.37:g.57565238G>A	ENSP00000267811:p.Glu562Lys					TCF12_ENST00000559710.1_Missense_Mutation_p.E196K|TCF12_ENST00000333725.5_Missense_Mutation_p.E586K|TCF12_ENST00000452095.2_Missense_Mutation_p.E582K|TCF12_ENST00000537840.1_Missense_Mutation_p.E326K|TCF12_ENST00000559703.1_Missense_Mutation_p.E219K|TCF12_ENST00000343827.3_Missense_Mutation_p.E392K|TCF12_ENST00000438423.2_Missense_Mutation_p.E586K|TCF12_ENST00000557843.1_Missense_Mutation_p.E562K|TCF12_ENST00000543579.1_Missense_Mutation_p.E416K	p.E562K	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	18	1988	+		Colorectal(260;0.0907)	562					Q7Z3D9|Q86TC1|Q86VM2	Missense_Mutation	SNP	ENST00000267811.5	37	c.1684G>A	CCDS10159.1	.	.	.	.	.	.	.	.	.	.	G	32	5.139172	0.94560	.	.	ENSG00000140262	ENST00000543236;ENST00000267811;ENST00000438423;ENST00000452095;ENST00000333725;ENST00000543579;ENST00000537840;ENST00000343827;ENST00000543417	T;T;T;T;T;T;T	0.24151	2.46;2.45;2.45;2.45;2.19;1.87;2.21	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.49864	0.1582	M	0.69463	2.115	0.80722	D	1	P;P;D;D;D;D;D;D;P;D	0.76494	0.863;0.956;0.998;0.97;0.988;0.999;0.999;0.978;0.956;0.996	P;D;D;P;P;D;D;P;P;D	0.81914	0.449;0.931;0.987;0.777;0.777;0.995;0.994;0.644;0.899;0.981	T	0.46541	-0.9184	10	0.39692	T	0.17	-23.7516	18.0066	0.89211	0.0:0.0:1.0:0.0	.	582;196;416;326;582;614;416;392;562;586	B4DGI9;B4DZP2;B4DH96;B4E1W1;E9PGY0;F5H6Z6;F5GY10;Q99081-2;Q99081;Q99081-3	.;.;.;.;.;.;.;.;HTF4_HUMAN;.	K	614;562;586;582;586;416;326;392;174	ENSP00000267811:E562K;ENSP00000388940:E586K;ENSP00000396881:E582K;ENSP00000331057:E586K;ENSP00000440017:E416K;ENSP00000444696:E326K;ENSP00000342459:E392K	ENSP00000267811:E562K	E	+	1	0	TCF12	55352530	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.683000	0.98657	2.324000	0.78689	0.650000	0.86243	GAA		0.388	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205		8	18	8	18	---	---	---	---
VWA3A	146177	broad.mit.edu	37	16	22132353	22132353	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr16:22132353C>A	ENST00000389398.5	+	13	1277	c.1181C>A	c.(1180-1182)gCt>gAt	p.A394D	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	394						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		AAGCATGACGCTCCTCTCACC	0.443																																						ENST00000389398.5																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						c.(1180-1182)gCt>gAt		von Willebrand factor A domain containing 3A							106.0	99.0	101.0					16																	22132353		1890	4113	6003	SO:0001583	missense	146177					extracellular region		g.chr16:22132353C>A	AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.1181C>A	16.37:g.22132353C>A	ENSP00000374049:p.Ala394Asp					VWA3A_ENST00000389397.4_5'UTR	p.A394D	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN		GBM - Glioblastoma multiforme(48;0.0439)	13	1277	+			394					A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	ENST00000389398.5	37	c.1181C>A	CCDS45441.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.258500	0.23051	.	.	ENSG00000175267	ENST00000389398;ENST00000299840	T	0.12255	2.7	5.48	-3.4	0.04853	.	0.776715	0.12088	N	0.500667	T	0.07593	0.0191	N	0.16478	0.41	0.09310	N	0.999994	B;B	0.09022	0.001;0.002	B;B	0.09377	0.002;0.004	T	0.33445	-0.9868	10	0.72032	D	0.01	.	9.2754	0.37696	0.3183:0.1786:0.5031:0.0	.	394;18	A6NCI4;A6NCI4-2	VWA3A_HUMAN;.	D	394;17	ENSP00000374049:A394D	ENSP00000299840:A17D	A	+	2	0	VWA3A	22039854	0.000000	0.05858	0.010000	0.14722	0.599000	0.36880	-0.011000	0.12721	-0.288000	0.09051	0.650000	0.86243	GCT		0.443	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1			5	61	5	61	---	---	---	---
CIAPIN1	57019	broad.mit.edu	37	16	57468061	57468061	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr16:57468061T>A	ENST00000569979.1	-	4	497	c.451A>T	c.(451-453)Agt>Tgt	p.S151C	CIAPIN1_ENST00000568940.1_Missense_Mutation_p.S151C|CIAPIN1_ENST00000569370.1_Missense_Mutation_p.S151C|CIAPIN1_ENST00000569246.1_5'UTR|CIAPIN1_ENST00000394391.4_Missense_Mutation_p.S151C|CIAPIN1_ENST00000567518.1_Missense_Mutation_p.S138C|CIAPIN1_ENST00000565961.1_Missense_Mutation_p.S124C					cytokine induced apoptosis inhibitor 1											cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						AGGTTGTCACTTTCATGACCA	0.463																																						ENST00000394391.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						c.(451-453)Agt>Tgt		cytokine induced apoptosis inhibitor 1							140.0	129.0	132.0					16																	57468061		1897	4123	6020	SO:0001583	missense	57019				anti-apoptosis|apoptosis	cytoplasm|nucleolus		g.chr16:57468061T>A	AF248964	CCDS10781.2	16q21	2012-09-20			ENSG00000005194	ENSG00000005194			28050	protein-coding gene	gene with protein product		608943				10493829, 11230166	Standard	XM_005256061		Approved	Anamorsin	uc002ell.1	Q6FI81	OTTHUMG00000133457	ENST00000569979.1:c.451A>T	16.37:g.57468061T>A	ENSP00000458000:p.Ser151Cys					CIAPIN1_ENST00000569370.1_Missense_Mutation_p.S151C|CIAPIN1_ENST00000569246.1_5'UTR|CIAPIN1_ENST00000568940.1_Missense_Mutation_p.S151C|CIAPIN1_ENST00000569979.1_Missense_Mutation_p.S151C|CIAPIN1_ENST00000567518.1_Missense_Mutation_p.S138C|CIAPIN1_ENST00000565961.1_Missense_Mutation_p.S124C	p.S151C	NM_020313.2	NP_064709.2	Q6FI81	CPIN1_HUMAN			5	692	-			151						Missense_Mutation	SNP	ENST00000569979.1	37	c.451A>T		.	.	.	.	.	.	.	.	.	.	T	12.33	1.904707	0.33628	.	.	ENSG00000005194	ENST00000394391	T	0.34667	1.35	5.28	4.19	0.49359	.	0.044322	0.85682	D	0.000000	T	0.50548	0.1622	M	0.75264	2.295	0.31447	N	0.671263	D;D;D	0.71674	0.998;0.995;0.989	P;P;B	0.59825	0.864;0.718;0.445	T	0.60058	-0.7337	10	0.62326	D	0.03	-6.1219	6.4663	0.21983	0.0:0.2676:0.0:0.7324	.	151;138;151	B4DHB9;Q6FI81-3;Q6FI81	.;.;CPIN1_HUMAN	C	151	ENSP00000377914:S151C	ENSP00000377914:S151C	S	-	1	0	CIAPIN1	56025562	1.000000	0.71417	0.131000	0.22000	0.025000	0.11179	4.454000	0.60068	0.965000	0.38133	0.460000	0.39030	AGT		0.463	CIAPIN1-010	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000432580.1	NM_020313		16	96	16	96	---	---	---	---
CFAP20	29105	broad.mit.edu	37	16	58149203	58149203	+	Silent	SNP	G	G	C			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr16:58149203G>C	ENST00000262498.3	-	4	769	c.435C>G	c.(433-435)ggC>ggG	p.G145G	C16orf80_ENST00000562443.1_5'UTR|CTB-134F13.1_ENST00000564672.1_RNA	NM_013242.2	NP_037374.1														kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						TGTAATTGGTGCCGTATGCTC	0.552																																					Pancreas(103;1212 1612 18629 30162 52390)	ENST00000262498.3																			0				kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(433-435)ggC>ggG		chromosome 16 open reading frame 80							241.0	199.0	213.0					16																	58149203		2198	4300	6498	SO:0001819	synonymous_variant	29105				multicellular organismal development			g.chr16:58149203G>C																												ENST00000262498.3:c.435C>G	16.37:g.58149203G>C						C16orf80_ENST00000562443.1_5'UTR	p.G145G	NM_013242.2	NP_037374.1	Q9Y6A4	CP080_HUMAN			4	769	-			145						Silent	SNP	ENST00000262498.3	37	c.435C>G	CCDS10793.1																																																																																				0.552	C16orf80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257388.2			54	91	54	91	---	---	---	---
MYH10	4628	broad.mit.edu	37	17	8526221	8526221	+	Splice_Site	SNP	T	T	G	rs367804571		TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr17:8526221T>G	ENST00000269243.4	-	2	482	c.344A>C	c.(343-345)tAt>tCt	p.Y115S	MYH10_ENST00000379980.4_Splice_Site_p.Y115S|MYH10_ENST00000360416.3_Splice_Site_p.Y115S|MYH10_ENST00000396239.1_Splice_Site_p.Y115S	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	115	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						AATACTTACATAGATTAGTCC	0.348																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(343-345)tAt>tCt		myosin, heavy chain 10, non-muscle							89.0	83.0	85.0					17																	8526221		2203	4300	6503	SO:0001630	splice_region_variant	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8526221T>G	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.345+1A>C	17.37:g.8526221T>G						MYH10_ENST00000269243.4_Splice_Site_p.Y115S|MYH10_ENST00000379980.4_Splice_Site_p.Y115S|MYH10_ENST00000396239.1_Splice_Site_p.Y115S	p.Y115S	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			2	482	-			115			Myosin head-like.		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Splice_Site	SNP	ENST00000269243.4	37	c.344A>C	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.187472	0.78789	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980;ENST00000411957	D;D;D;D;D	0.98362	-1.95;-1.95;-4.89;-1.95;-1.95	4.78	4.78	0.61160	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.99453	0.9806	H	0.99487	4.59	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.996;0.999	D;D;D	0.91635	0.999;0.97;0.999	D	0.97892	1.0298	10	0.87932	D	0	.	14.1342	0.65276	0.0:0.0:0.0:1.0	.	115;115;115	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	S	115	ENSP00000269243:Y115S;ENSP00000353590:Y115S;ENSP00000379539:Y115S;ENSP00000369315:Y115S;ENSP00000408220:Y115S	ENSP00000269243:Y115S	Y	-	2	0	MYH10	8466946	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.776000	0.85560	1.998000	0.58463	0.459000	0.35465	TAT		0.348	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2		Missense_Mutation	12	24	12	24	---	---	---	---
KSR1	8844	broad.mit.edu	37	17	25950427	25950427	+	3'UTR	SNP	A	A	G			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr17:25950427A>G	ENST00000319524.6	+	0	2781				KSR1_ENST00000578981.1_Missense_Mutation_p.Y50C|KSR1_ENST00000582410.1_3'UTR|RP11-19P22.8_ENST00000577746.1_RNA|KSR1_ENST00000398988.3_3'UTR|AC015688.3_ENST00000584605.1_Missense_Mutation_p.Y13C			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1						Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		AGCCAGCCATATGGTTTTTCG	0.463																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)	ENST00000578981.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28						c.(148-150)tAt>tGt		kinase suppressor of ras 1							27.0	25.0	25.0					17																	25950427		876	1991	2867	SO:0001624	3_prime_UTR_variant	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25950427A>G	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"""kinase suppressor of ras"""	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.*9A>G	17.37:g.25950427A>G						AC015688.3_ENST00000584605.1_Missense_Mutation_p.Y13C|KSR1_ENST00000319524.6_3'UTR|KSR1_ENST00000398988.3_3'UTR|KSR1_ENST00000582410.1_3'UTR	p.Y50C			Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	2	327	+	Lung NSC(42;0.00836)		0					F8WEA9|H7BYU0|Q13476	Missense_Mutation	SNP	ENST00000319524.6	37	c.149A>G																																																																																					0.463	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		5	16	5	16	---	---	---	---
DNAH17	8632	broad.mit.edu	37	17	76496390	76496390	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr17:76496390G>T	ENST00000585328.1	-	36	5746	c.5622C>A	c.(5620-5622)taC>taA	p.Y1874*	RP11-559N14.5_ENST00000591373.1_RNA|DNAH17-AS1_ENST00000598378.1_Missense_Mutation_p.V108L|DNAH17_ENST00000389840.5_Nonsense_Mutation_p.Y1865*	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1865	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CGCGTACCTTGTAGTCCATCT	0.612																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(5593-5595)taC>taA		dynein, axonemal, heavy chain 17							20.0	24.0	23.0					17																	76496390		1997	4192	6189	SO:0001587	stop_gained	8632							g.chr17:76496390G>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.5622C>A	17.37:g.76496390G>T	ENSP00000465516:p.Tyr1874*					DNAH17_ENST00000585328.1_Nonsense_Mutation_p.Y1874*|DNAH17-AS1_ENST00000598378.1_Missense_Mutation_p.V108L	p.Y1865*					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		36	5719	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Nonsense_Mutation	SNP	ENST00000585328.1	37	c.5595C>A		.	.	.	.	.	.	.	.	.	.	G	46	12.779927	0.99696	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	.	.	.	3.86	1.84	0.25277	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.6936	0.23187	0.4146:0.0:0.5854:0.0	.	.	.	.	X	1874;1865	.	ENSP00000300671:Y1874X	Y	-	3	2	DNAH17	74007985	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	1.826000	0.39092	0.972000	0.38314	0.448000	0.29417	TAC		0.612	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		4	19	4	19	---	---	---	---
ACAA2	10449	broad.mit.edu	37	18	47311571	47311571	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr18:47311571A>C	ENST00000285093.10	-	9	1580	c.1105T>G	c.(1105-1107)Tta>Gta	p.L369V	ACAA2_ENST00000587994.1_Missense_Mutation_p.L366V|ACAA2_ENST00000589432.1_Missense_Mutation_p.L314V	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN	acetyl-CoA acyltransferase 2	369					cellular response to hypoxia (GO:0071456)|cholesterol biosynthetic process (GO:0006695)|fatty acid metabolic process (GO:0006631)|negative regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902109)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	acetyl-CoA C-acyltransferase activity (GO:0003988)|poly(A) RNA binding (GO:0044822)			large_intestine(2)|lung(7)|ovary(1)	10						AAATACCTTAATTCGTGAACC	0.398																																						ENST00000285093.10																			0				large_intestine(2)|lung(7)|ovary(1)	10						c.(1105-1107)Tta>Gta		acetyl-CoA acyltransferase 2							91.0	82.0	85.0					18																	47311571		2203	4300	6503	SO:0001583	missense	10449				anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding	g.chr18:47311571A>C	D16294	CCDS11939.1	18q21	2010-04-30	2010-04-30		ENSG00000167315	ENSG00000167315	2.3.1.16		83	protein-coding gene	gene with protein product	"""mitochondrial 3-oxoacyl-Coenzyme A thiolase"""	604770	"""acetyl-Coenzyme A acyltransferase 2"""			8241273	Standard	NM_006111		Approved	DSAEC	uc002ldw.4	P42765	OTTHUMG00000132667	ENST00000285093.10:c.1105T>G	18.37:g.47311571A>C	ENSP00000285093:p.Leu369Val					ACAA2_ENST00000587994.1_Missense_Mutation_p.L366V|ACAA2_ENST00000589432.1_Missense_Mutation_p.L314V	p.L369V	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN			9	1580	-			369					Q9BUT6	Missense_Mutation	SNP	ENST00000285093.10	37	c.1105T>G	CCDS11939.1	.	.	.	.	.	.	.	.	.	.	A	17.25	3.341577	0.61073	.	.	ENSG00000167315	ENST00000285093	D	0.89810	-2.57	5.6	3.25	0.37280	Thiolase-like, subgroup (1);Thiolase-like (1);Thiolase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95510	0.8541	H	0.96805	3.885	0.80722	D	1	D;D	0.76494	0.99;0.999	P;D	0.74674	0.897;0.984	D	0.93965	0.7244	10	0.87932	D	0	.	8.0726	0.30697	0.7064:0.0:0.2936:0.0	.	369;369	B2RB23;P42765	.;THIM_HUMAN	V	369	ENSP00000285093:L369V	ENSP00000285093:L369V	L	-	1	2	ACAA2	45565569	1.000000	0.71417	0.998000	0.56505	0.709000	0.40893	3.340000	0.52143	0.431000	0.26258	-0.250000	0.11733	TTA		0.398	ACAA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255921.2	NM_006111		4	65	4	65	---	---	---	---
CYP4F22	126410	broad.mit.edu	37	19	15662136	15662136	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr19:15662136G>T	ENST00000269703.3	+	14	1649	c.1450G>T	c.(1450-1452)Gag>Tag	p.E484*	CYP4F22_ENST00000601005.2_Nonsense_Mutation_p.E484*	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	484						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						CGCCATGGCCGAGTTGCGCGT	0.637																																						ENST00000269703.3																			0				endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						c.(1450-1452)Gag>Tag		cytochrome P450, family 4, subfamily F, polypeptide 22							53.0	39.0	43.0					19																	15662136		2203	4300	6503	SO:0001587	stop_gained	126410					endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr19:15662136G>T		CCDS12331.1	19p13.12	2013-11-11			ENSG00000171954	ENSG00000171954		"""Cytochrome P450s"""	26820	protein-coding gene	gene with protein product		611495				16436457	Standard	NM_173483		Approved	FLJ39501	uc002nbh.4	Q6NT55	OTTHUMG00000182451	ENST00000269703.3:c.1450G>T	19.37:g.15662136G>T	ENSP00000269703:p.Glu484*					CYP4F22_ENST00000601005.2_Nonsense_Mutation_p.E484*	p.E484*	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN			14	1649	+								Q8N8H4	Nonsense_Mutation	SNP	ENST00000269703.3	37	c.1450G>T	CCDS12331.1	.	.	.	.	.	.	.	.	.	.	G	36	5.721429	0.96839	.	.	ENSG00000171954	ENST00000269703	.	.	.	4.6	4.6	0.57074	.	0.053133	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.245	0.73499	0.0:0.0:1.0:0.0	.	.	.	.	X	484	.	ENSP00000269703:E484X	E	+	1	0	CYP4F22	15523136	1.000000	0.71417	0.965000	0.40720	0.822000	0.46500	6.534000	0.73833	2.247000	0.74100	0.455000	0.32223	GAG		0.637	CYP4F22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461338.2	NM_173483		14	15	14	15	---	---	---	---
CYP4F12	66002	broad.mit.edu	37	19	15794476	15794476	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr19:15794476G>A	ENST00000550308.1	+	7	1201	c.821G>A	c.(820-822)cGg>cAg	p.R274Q	CYP4F12_ENST00000324632.10_Missense_Mutation_p.R274Q	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	274					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	ATCCGGGAGCGGCGTCGCACC	0.537																																						ENST00000550308.1																			0				NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						c.(820-822)cGg>cAg		cytochrome P450, family 4, subfamily F, polypeptide 12							98.0	98.0	98.0					19																	15794476		2200	4298	6498	SO:0001583	missense	66002							g.chr19:15794476G>A	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.821G>A	19.37:g.15794476G>A	ENSP00000448998:p.Arg274Gln					CYP4F12_ENST00000324632.10_Missense_Mutation_p.R274Q	p.R274Q	NM_023944.3	NP_076433					7	1201	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	c.821G>A	CCDS42517.1	.	.	.	.	.	.	.	.	.	.	.	14.63	2.593051	0.46214	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	D;D	0.81908	-1.55;-1.55	2.47	0.271	0.15640	.	0.100952	0.38778	U	0.001575	D	0.85435	0.5696	M	0.86502	2.82	0.37703	D	0.924304	D	0.56035	0.974	P	0.50659	0.647	D	0.84572	0.0656	10	0.87932	D	0	.	6.4621	0.21962	0.2735:0.0:0.7265:0.0	.	274	Q9HCS2	CP4FC_HUMAN	Q	274	ENSP00000448998:R274Q;ENSP00000321821:R274Q	ENSP00000321821:R274Q	R	+	2	0	CYP4F12	15655476	0.998000	0.40836	0.726000	0.30738	0.403000	0.30841	4.975000	0.63777	0.141000	0.18875	0.491000	0.48974	CGG		0.537	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			33	99	33	99	---	---	---	---
SUGP1	57794	broad.mit.edu	37	19	19431287	19431287	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr19:19431287T>A	ENST00000247001.5	-	1	366	c.19A>T	c.(19-21)Aac>Tac	p.N7Y	MAU2_ENST00000392313.6_5'Flank|MAU2_ENST00000262815.8_5'Flank|SUGP1_ENST00000334782.5_Missense_Mutation_p.N7Y|SUGP1_ENST00000585763.1_5'UTR	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	7					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						ACATCCCGGTTGTCCATCTTG	0.632																																						ENST00000247001.5																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						c.(19-21)Aac>Tac		SURP and G patch domain containing 1							91.0	95.0	94.0					19																	19431287		2203	4300	6503	SO:0001583	missense	57794				nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding	g.chr19:19431287T>A	AF521128	CCDS12399.1	19p13	2013-01-28	2010-08-10	2010-08-10		ENSG00000105705		"""G patch domain containing"""	18643	protein-coding gene	gene with protein product		607992	"""splicing factor 4"""	SF4		12594045	Standard	NM_172231		Approved	F23858, DKFZp434E2216, RBP	uc002nmh.3	Q8IWZ8		ENST00000247001.5:c.19A>T	19.37:g.19431287T>A	ENSP00000247001:p.Asn7Tyr					SUGP1_ENST00000334782.5_Missense_Mutation_p.N7Y|SUGP1_ENST00000585763.1_5'UTR	p.N7Y	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN			1	366	-			7					O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	Missense_Mutation	SNP	ENST00000247001.5	37	c.19A>T	CCDS12399.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.457164	0.84317	.	.	ENSG00000105705	ENST00000247001;ENST00000535070;ENST00000334782	T	0.23147	1.92	5.41	5.41	0.78517	.	0.492664	0.19450	N	0.113959	T	0.26557	0.0649	L	0.51422	1.61	0.36371	D	0.861295	P	0.47350	0.894	B	0.41723	0.365	T	0.35126	-0.9801	10	0.72032	D	0.01	.	11.8269	0.52271	0.0:0.0:0.0:1.0	.	7	Q8IWZ8	SUGP1_HUMAN	Y	7	ENSP00000247001:N7Y	ENSP00000247001:N7Y	N	-	1	0	SUGP1	19292287	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.695000	0.54749	2.059000	0.61396	0.459000	0.35465	AAC		0.632	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460128.4	NM_021164		28	81	28	81	---	---	---	---
BCAT2	587	broad.mit.edu	37	19	49299745	49299745	+	Silent	SNP	G	G	A			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr19:49299745G>A	ENST00000316273.6	-	10	1092	c.1080C>T	c.(1078-1080)ccC>ccT	p.P360P	BCAT2_ENST00000402551.1_Silent_p.P320P|BCAT2_ENST00000598162.1_Silent_p.P360P|BCAT2_ENST00000597011.1_Silent_p.P320P|BCAT2_ENST00000599246.1_Silent_p.P268P|BCAT2_ENST00000545387.2_Silent_p.P268P	NM_001190.3	NP_001181.2	O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	360					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|isoleucine catabolic process (GO:0006550)|leucine metabolic process (GO:0006551)|regulation of hormone levels (GO:0010817)|small molecule metabolic process (GO:0044281)|valine metabolic process (GO:0006573)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Isoleucine(DB00167)|L-Leucine(DB00149)	TTTCCATGGTGGGAATGTGGA	0.607																																						ENST00000402551.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12						c.(958-960)ccC>ccT		branched chain amino-acid transaminase 2, mitochondrial	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)						126.0	109.0	115.0					19																	49299745		2203	4300	6503	SO:0001819	synonymous_variant	587					mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity	g.chr19:49299745G>A	U68418	CCDS12735.1, CCDS54290.1, CCDS74416.1	19q13.33	2013-09-20	2010-05-07		ENSG00000105552	ENSG00000105552	2.6.1.42		977	protein-coding gene	gene with protein product		113530	"""branched chain aminotransferase 2, mitochondrial"""	BCT2		9165094	Standard	NM_001190		Approved	BCAM	uc002pkr.3	O15382	OTTHUMG00000183327	ENST00000316273.6:c.1080C>T	19.37:g.49299745G>A						BCAT2_ENST00000598162.1_Silent_p.P360P|BCAT2_ENST00000597011.1_Silent_p.P320P|BCAT2_ENST00000316273.6_Silent_p.P360P|BCAT2_ENST00000545387.2_Silent_p.P268P|BCAT2_ENST00000599246.1_Silent_p.P268P	p.P320P	NM_001284325.1	NP_001271254.1	O15382	BCAT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	11	1580	-		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	360					B2RB87|O00269|Q96KG1|Q9BTB6|Q9BUU6	Silent	SNP	ENST00000316273.6	37	c.960C>T	CCDS12735.1																																																																																				0.607	BCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466202.1			33	78	33	78	---	---	---	---
UNK	85451	broad.mit.edu	37	17	73780852	73780852	+	5'UTR	DEL	G	G	-			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr17:73780852delG	ENST00000589666.1	+	0	1				MIR4738_ENST00000579134.1_RNA|H3F3B_ENST00000586607.1_Intron|UNK_ENST00000293218.3_Frame_Shift_Del_p.W40fs	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger								poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTGCCGTGTGGGGGGTCTTC	0.617																																						ENST00000293218.3																			0				cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(118-120)tggfs		unkempt family zinc finger							22.0	28.0	26.0					17																	73780852		1915	4119	6034	SO:0001623	5_prime_UTR_variant	85451						nucleic acid binding|zinc ion binding	g.chr17:73780852delG	AB051540	CCDS45778.1, CCDS45778.2	17q25.3	2013-10-17	2013-10-17	2007-02-06		ENSG00000132478		"""Zinc fingers, CCCH-type domain containing"""	29369	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 5"", ""zinc finger CCCH-type containing 5"", ""unkempt homolog (Drosophila)"""	ZC3HDC5, ZC3H5		11214970	Standard	NM_001080419		Approved	KIAA1753	uc021udd.2	Q9C0B0		ENST00000589666.1:c.-110G>-	17.37:g.73780852delG						H3F3B_ENST00000586607.1_Intron|UNK_ENST00000589666.1_5'UTR	p.W40fs			Q9C0B0	UNK_HUMAN	all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)		2	119	+			0						Frame_Shift_Del	DEL	ENST00000589666.1	37	c.119delG	CCDS45778.2																																																																																				0.617	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448835.1	NM_001080419		7	28	7	28	---	---	---	---
