#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_BAM_File	i_CAF	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_deletion_substructures	i_domain	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_name	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_ref_reads_val	i_normal_vaf	i_normal_vaf_val	i_normal_var_reads	i_normal_var_reads_val	i_reference	i_refseq_mrna_id	i_rsID	i_rsID_ref_var_alleles	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_ref_reads	i_tumor_ref_reads_val	i_tumor_vaf	i_tumor_vaf_val	i_tumor_var_reads	i_tumor_var_reads_val	i_type	i_ucsc_cons	i_variant
CXorf58	254158	genome.wustl.edu	37	X	23957371	23957371	+	Missense_Mutation	SNP	C	C	T	rs200387112		TCGA-4V-A9QQ-01A-11D-A423-09	TCGA-4V-A9QQ-10B-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f2a14e3b-0b71-4e83-80dc-12ecb6f23e6a	5fbd240c-3130-4de3-a25a-ab3939ce41bb	g.chrX:23957371C>T	ENST00000379211.3	+	9	1499	c.950C>T	c.(949-951)aCg>aTg	p.T317M		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	317										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						GAACCAAAAACGGGCCCATCA	0.328													C|||	9	0.00238411	0.0	0.0	3775	,	,		12941	0.0089		0.0	False		,,,				2504	0.0						0											0													117.0	108.0	111.0					X																	23957371		2203	4300	6503	SO:0001583	missense	0			AK058173	CCDS14209.1	Xp22.11	2012-11-28			ENSG00000165182	ENSG00000165182			26356	protein-coding gene	gene with protein product							Standard	NM_152761		Approved	FLJ25444	uc004daz.1	Q96LI9	OTTHUMG00000021258	ENST00000379211.3:c.950C>T	X.37:g.23957371C>T	ENSP00000368511:p.Thr317Met			Missense_Mutation	SNP	NULL	p.T317M	ENST00000379211.3	37	c.950	CCDS14209.1	X	2	0.0012055455093429777	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	10.16	1.273735	0.23221	.	.	ENSG00000165182	ENST00000379211	T	0.33216	1.42	4.52	-9.05	0.00730	.	2.209180	0.01899	N	0.039081	T	0.16514	0.0397	N	0.14661	0.345	0.09310	N	1	B;B	0.24675	0.109;0.109	B;B	0.13407	0.009;0.009	T	0.10636	-1.0621	10	0.40728	T	0.16	8.6939	10.8927	0.47004	0.2151:0.6574:0.0:0.1275	.	315;317	B7ZLS7;Q96LI9	.;CX058_HUMAN	M	317	ENSP00000368511:T317M	ENSP00000368511:T317M	T	+	2	0	CXorf58	23867292	0.000000	0.05858	0.000000	0.03702	0.139000	0.21198	-4.117000	0.00292	-1.934000	0.01051	-0.728000	0.03583	ACG	0	NULL		0.328	CXorf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf58	protein_coding	OTTHUMT00000056071.1	200	356	0	0.00	0	0	C	NM_152761	rs200387112	C->T		23957371	1	no_errors	ENST00000379211	ensembl	human	known	74_37	missense	383	400	7.04	5.66	29	24	SNP	0	T
ZNF81	347344	genome.wustl.edu	37	X	47774780	47774780	+	Silent	SNP	C	C	T			TCGA-4V-A9QQ-01A-11D-A423-09	TCGA-4V-A9QQ-10B-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f2a14e3b-0b71-4e83-80dc-12ecb6f23e6a	5fbd240c-3130-4de3-a25a-ab3939ce41bb	g.chrX:47774780C>T	ENST00000376954.1	+	6	1103	c.735C>T	c.(733-735)ttC>ttT	p.F245F	ZNF81_ENST00000338637.7_Silent_p.F245F			P51508	ZNF81_HUMAN	zinc finger protein 81	245					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				GAGTGAAGTTCTGTGAACGTA	0.393																																							0											0													60.0	57.0	58.0					X																	47774780		1926	4112	6038	SO:0001819	synonymous_variant	0			AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"""Zinc fingers, C2H2-type"", ""-"""	13156	protein-coding gene	gene with protein product		314998	"""zinc finger protein 81 (HFZ20)"", ""mental retardation, X-linked 45"""	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.735C>T	X.37:g.47774780C>T			Q6RX22|Q96QH6	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F245	ENST00000376954.1	37	c.735	CCDS43933.1	X																																																																																			0	NULL		0.393	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF81	protein_coding	OTTHUMT00000056455.2	109	328	0	0.00	0	0	C	NM_007137	0	0		47774780	1	no_errors	ENST00000338637	ensembl	human	known	74_37	silent	167	352	8.74	5.11	16	19	SNP	0.752	T
STAG2	10735	genome.wustl.edu	37	X	123182926	123182926	+	Nonsense_Mutation	SNP	C	C	A			TCGA-4V-A9QQ-01A-11D-A423-09	TCGA-4V-A9QQ-10B-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f2a14e3b-0b71-4e83-80dc-12ecb6f23e6a	5fbd240c-3130-4de3-a25a-ab3939ce41bb	g.chrX:123182926C>A	ENST00000371160.1	+	10	1181	c.891C>A	c.(889-891)taC>taA	p.Y297*	STAG2_ENST00000354548.5_Nonsense_Mutation_p.Y228*|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Nonsense_Mutation_p.Y297*|STAG2_ENST00000371157.3_Nonsense_Mutation_p.Y297*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.Y297*|STAG2_ENST00000371145.3_Nonsense_Mutation_p.Y297*	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	297	SCD. {ECO:0000255|PROSITE- ProRule:PRU00750}.				meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TACATAGATACCGGTAAGTTG	0.303																																							0											0													88.0	83.0	85.0					X																	123182926		2203	4298	6501	SO:0001587	stop_gained	0			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.891C>A	X.37:g.123182926C>A	ENSP00000360202:p.Tyr297*		B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Nonsense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.Y297*	ENST00000371160.1	37	c.891	CCDS14607.1	X	.	.	.	.	.	.	.	.	.	.	C	39	7.465828	0.98302	.	.	ENSG00000101972	ENST00000218089;ENST00000455404;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	.	.	.	5.47	3.61	0.41365	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.8605	8.0897	0.30793	0.0:0.7132:0.0:0.2868	.	.	.	.	X	297;297;228;297;297;297;297	.	ENSP00000218089:Y297X	Y	+	3	2	STAG2	123010607	0.994000	0.37717	1.000000	0.80357	0.992000	0.81027	0.413000	0.21148	0.967000	0.38186	0.600000	0.82982	TAC	0	superfamily_ARM-type_fold		0.303	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	STAG2	protein_coding	OTTHUMT00000156159.2	57	335	0	0.00	0	0	C	NM_006603	0	0		123182926	1	no_errors	ENST00000218089	ensembl	human	known	74_37	nonsense	94	325	13.76	10.93	15	40	SNP	1	A
DNAH6	1768	genome.wustl.edu	37	2	84915588	84915588	+	Missense_Mutation	SNP	T	T	C			TCGA-4V-A9QQ-01A-11D-A423-09	TCGA-4V-A9QQ-10B-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f2a14e3b-0b71-4e83-80dc-12ecb6f23e6a	5fbd240c-3130-4de3-a25a-ab3939ce41bb	g.chr2:84915588T>C	ENST00000237449.6	+	44	7171	c.7163T>C	c.(7162-7164)aTt>aCt	p.I2388T	DNAH6_ENST00000398278.2_Missense_Mutation_p.I2339T|DNAH6_ENST00000602588.1_Missense_Mutation_p.I360T|DNAH6_ENST00000389394.3_Missense_Mutation_p.I2388T			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	2388					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(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						GCTGATCGGATTTATGATGAC	0.343																																							0											0													177.0	153.0	161.0					2																	84915588		692	1591	2283	SO:0001583	missense	0			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.7163T>C	2.37:g.84915588T>C	ENSP00000237449:p.Ile2388Thr		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.I2388T	ENST00000237449.6	37	c.7163	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	T	15.61	2.884953	0.51908	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.39787	1.77;1.06;1.77	5.73	5.73	0.89815	.	.	.	.	.	T	0.44973	0.1319	M	0.66560	2.04	0.42214	D	0.991828	B;B	0.24618	0.107;0.099	B;B	0.28011	0.011;0.085	T	0.36261	-0.9755	9	0.33940	T	0.23	.	15.0009	0.71469	0.0:0.0:0.0:1.0	.	2388;2339	Q9C0G6;Q9C0G6-4	DYH6_HUMAN;.	T	2388;2339;2388	ENSP00000374045:I2388T;ENSP00000381326:I2339T;ENSP00000237449:I2388T	ENSP00000237449:I2388T	I	+	2	0	DNAH6	84769099	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.687000	0.61708	2.187000	0.69744	0.533000	0.62120	ATT	0	superfamily_P-loop_NTPase		0.343	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	protein_coding	OTTHUMT00000328537.2	47	220	0	0.00	0	0	T	NM_001370	0	0		84915588	1	no_errors	ENST00000237449	ensembl	human	known	74_37	missense	66	231	8.33	5.33	6	13	SNP	1	C
MLH3	27030	genome.wustl.edu	37	14	75513100	75513100	+	Missense_Mutation	SNP	C	C	T			TCGA-4V-A9QQ-01A-11D-A423-09	TCGA-4V-A9QQ-10B-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f2a14e3b-0b71-4e83-80dc-12ecb6f23e6a	5fbd240c-3130-4de3-a25a-ab3939ce41bb	g.chr14:75513100C>T	ENST00000556740.1	-	1	3294	c.3259G>A	c.(3259-3261)Gtg>Atg	p.V1087M	MLH3_ENST00000355774.2_Missense_Mutation_p.V1087M|MLH3_ENST00000544985.1_Missense_Mutation_p.V82M|MLH3_ENST00000238662.7_Missense_Mutation_p.V1087M|MLH3_ENST00000380968.2_Missense_Mutation_p.V33M|MLH3_ENST00000555671.1_5'UTR|MLH3_ENST00000556257.1_Missense_Mutation_p.V1087M			Q9UHC1	MLH3_HUMAN	mutL homolog 3	1087					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		ACAACATCCACAGCCACAGTT	0.423								Mismatch excision repair (MMR)																															0											0													122.0	104.0	110.0					14																	75513100		2203	4300	6503	SO:0001583	missense	0			AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.3259G>A	14.37:g.75513100C>T	ENSP00000452316:p.Val1087Met		P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_dom,smart_MutL_C	p.V1087M	ENST00000556740.1	37	c.3259	CCDS32123.1	14	.	.	.	.	.	.	.	.	.	.	C	24.5	4.535297	0.85812	.	.	ENSG00000119684	ENST00000355774;ENST00000380968;ENST00000238662;ENST00000556257;ENST00000556740;ENST00000544985	D;T;D;D;D;T	0.91894	-2.63;-0.04;-2.93;-2.32;-2.63;-0.4	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.95906	0.8667	M	0.72894	2.215	0.54753	D	0.999986	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95805	0.8836	10	0.87932	D	0	-12.5236	19.5721	0.95425	0.0:1.0:0.0:0.0	.	1087;1087	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	M	1087;33;1087;1087;1087;82	ENSP00000348020:V1087M;ENSP00000370355:V33M;ENSP00000238662:V1087M;ENSP00000451540:V1087M;ENSP00000452316:V1087M;ENSP00000441371:V82M	ENSP00000238662:V1087M	V	-	1	0	MLH3	74582853	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	5.438000	0.66550	2.857000	0.98124	0.650000	0.86243	GTG	0	NULL		0.423	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MLH3	protein_coding	OTTHUMT00000415006.1	73	205	0	0.49	0	1	C	NM_014381	0	0		75513100	-1	no_errors	ENST00000355774	ensembl	human	known	74_37	missense	55	217	8.33	13.20	5	33	SNP	1	T
AKT1	207	genome.wustl.edu	37	14	105246482	105246482	+	Missense_Mutation	SNP	C	C	T			TCGA-4V-A9QQ-01A-11D-A423-09	TCGA-4V-A9QQ-10B-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f2a14e3b-0b71-4e83-80dc-12ecb6f23e6a	5fbd240c-3130-4de3-a25a-ab3939ce41bb	g.chr14:105246482C>T	ENST00000554581.1	-	2	1598	c.118G>A	c.(118-120)Gag>Aag	p.E40K	AKT1_ENST00000544168.1_5'Flank|AKT1_ENST00000402615.2_Missense_Mutation_p.E40K|AKT1_ENST00000554848.1_Missense_Mutation_p.E40K|AKT1_ENST00000407796.2_Missense_Mutation_p.E40K|AKT1_ENST00000555528.1_Missense_Mutation_p.E40K|AKT1_ENST00000349310.3_Missense_Mutation_p.E40K			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	40	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.E40K(1)		NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TGCGGCCGCTCCTTGTAGCCA	0.582		1	Mis		"""breast, colorectal, ovarian, NSCLC"""																																		0		Dom	yes		14	14q32.32	207	v-akt murine thymoma viral oncogene homolog 1		E	1	Substitution - Missense(1)	kidney(1)											122.0	97.0	105.0					14																	105246482		2201	4300	6501	SO:0001583	missense	0			M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.118G>A	14.37:g.105246482C>T	ENSP00000451828:p.Glu40Lys		B2RAM5|B7Z5R1|Q9BWB6	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom	p.E40K	ENST00000554581.1	37	c.118	CCDS9994.1	14	.	.	.	.	.	.	.	.	.	.	C	27.5	4.840144	0.91117	.	.	ENSG00000142208	ENST00000554581;ENST00000407796;ENST00000349310;ENST00000402615;ENST00000555528;ENST00000554848;ENST00000555926	T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91	4.77	4.77	0.60923	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.47078	0.1426	L	0.47716	1.5	0.80722	D	1	P	0.38535	0.635	P	0.46389	0.515	T	0.36817	-0.9732	10	0.35671	T	0.21	.	16.5167	0.84302	0.0:1.0:0.0:0.0	.	40	P31749	AKT1_HUMAN	K	40	ENSP00000451828:E40K;ENSP00000384293:E40K;ENSP00000270202:E40K;ENSP00000385326:E40K;ENSP00000450688:E40K;ENSP00000451166:E40K;ENSP00000451824:E40K	ENSP00000270202:E40K	E	-	1	0	AKT1	104317527	1.000000	0.71417	1.000000	0.80357	0.497000	0.33675	7.369000	0.79578	2.478000	0.83669	0.462000	0.41574	GAG	0	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.582	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AKT1	protein_coding	OTTHUMT00000410418.1	50	168	0	0.00	0	0	C	NM_005163	0	0		105246482	-1	no_errors	ENST00000349310	ensembl	human	known	74_37	missense	44	160	12	15.79	6	30	SNP	1	T
DNAH3	55567	genome.wustl.edu	37	16	21156603	21156603	+	Nonsense_Mutation	SNP	A	A	T			TCGA-4V-A9QQ-01A-11D-A423-09	TCGA-4V-A9QQ-10B-01D-A426-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f2a14e3b-0b71-4e83-80dc-12ecb6f23e6a	5fbd240c-3130-4de3-a25a-ab3939ce41bb	g.chr16:21156603A>T	ENST00000261383.3	-	3	346	c.347T>A	c.(346-348)tTg>tAg	p.L116*	DNAH3_ENST00000415178.1_Nonsense_Mutation_p.L116*|DNAH3_ENST00000575491.1_5'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	116	Stem. {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)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTGGGCCATCAAGGAGTAGTT	0.572																																							0											0													165.0	118.0	134.0					16																	21156603		2201	4300	6501	SO:0001587	stop_gained	0			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.347T>A	16.37:g.21156603A>T	ENSP00000261383:p.Leu116*		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase	p.L116*	ENST00000261383.3	37	c.347	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	A	34	5.292517	0.95546	.	.	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	.	.	.	5.81	5.81	0.92471	.	3.113720	0.00741	N	0.001003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.6212	0.33861	0.915:0.0:0.085:0.0	.	.	.	.	X	116;116;87	.	ENSP00000261383:L116X	L	-	2	0	DNAH3	21064104	0.957000	0.32711	0.994000	0.49952	0.992000	0.81027	2.418000	0.44662	2.223000	0.72356	0.533000	0.62120	TTG	0	NULL		0.572	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	protein_coding	OTTHUMT00000207361.1	94	198	0	0.50	0	1	A	NM_017539	0	0		21156603	-1	no_errors	ENST00000261383	ensembl	human	known	74_37	nonsense	50	203	13.79	6.45	8	14	SNP	0.98	T
MT-ND2	4536	genome.wustl.edu	37	M	2384	2384	+	5'Flank	SNP	A	A	G			TCGA-4V-A9QQ-01A-11D-A423-09	TCGA-4V-A9QQ-10B-01D-A426-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f2a14e3b-0b71-4e83-80dc-12ecb6f23e6a	5fbd240c-3130-4de3-a25a-ab3939ce41bb	g.chrM:2384A>G	ENST00000361453.3	+	0	0				MT-RNR1_ENST00000389680.2_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						TAACAGCCCAATATCTACAAT	0.383																																							0											0																																										SO:0001631	upstream_gene_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.2384A>G	Exception_encountered		Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	0	NULL	ENST00000361453.3	37	NULL		MT																																																																																			0	0		0.383	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	MT-RNR2	protein_coding		149	1	0	0.00	0	0	A	YP_003024027	0	0		2384	1	no_errors	ENST00000387347	ensembl	human	known	74_37	rna	205	0	10.48	0.00	24	0	SNP	NULL	G
LOC101927209	101927209	genome.wustl.edu	37	1	142713693	142713693	+	lincRNA	SNP	G	G	A			TCGA-4V-A9QQ-01A-11D-A423-09	TCGA-4V-A9QQ-10B-01D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f2a14e3b-0b71-4e83-80dc-12ecb6f23e6a	5fbd240c-3130-4de3-a25a-ab3939ce41bb	g.chr1:142713693G>A	ENST00000610091.1	-	0	1965																											ATTCCTCATTGAGTTTTATAT	0.323																																							0											0																																												0																															1.37:g.142713693G>A				RNA	SNP	0	NULL	ENST00000610091.1	37	NULL		1																																																																																			0	0		0.323	RP11-417J8.6-001	KNOWN	basic	lincRNA	ENSG00000203849	lincRNA	OTTHUMT00000037265.2	125	0	0.79	0.00	1	0	G		0	0		142713693	-1	no_errors	ENST00000369381	ensembl	human	known	74_37	rna	226	0	7.76	0.00	19	0	SNP	0.539	A
SPATA5	166378	genome.wustl.edu	37	4	123928724	123928749	+	Intron	DEL	TGTGTGTGTGTGTGTGTGTGTGTGTG	TGTGTGTGTGTGTGTGTGTGTGTGTG	-	rs112099221|rs200478794|rs368779194|rs112656406|rs148702654		TCGA-4V-A9QQ-01A-11D-A423-09	TCGA-4V-A9QQ-10B-01D-A426-09	TGTGTGTGTGTGTGTGTGTGTGTGTG	TGTGTGTGTGTGTGTGTGTGTGTGTG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f2a14e3b-0b71-4e83-80dc-12ecb6f23e6a	5fbd240c-3130-4de3-a25a-ab3939ce41bb	g.chr4:123928724_123928749delTGTGTGTGTGTGTGTGTGTGTGTGTG	ENST00000274008.4	+	11	1938				AC109357.1_ENST00000401335.1_RNA|SPATA5_ENST00000422835.2_Intron	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						tgtgtgtatatgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtg	0.358																																							0											0																																										SO:0001627	intron_variant	0			AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"""ATPases / AAA-type"""	18119	protein-coding gene	gene with protein product	"""ATPase family gene 2 homolog (S. cerevisiae)"""	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.1870-20592TGTGTGTGTGTGTGTGTGTGTGTGTG>-	4.37:g.123928724_123928749delTGTGTGTGTGTGTGTGTGTGTGTGTG			C9JT97|Q86XW1|Q8NI20|Q8TDL7	RNA	DEL	0	NULL	ENST00000274008.4	37	NULL	CCDS3730.1	4																																																																																			0	0		0.358	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000216154	protein_coding	OTTHUMT00000256714.2	27	0	0	0.00	0	0	TGTGTGTGTGTGTGTGTGTGTGTGTG	NM_145207	rs148702654	ATGTGTGTGTGTGTGTGTGTGTGTGTG->A		123928749	-1	no_errors	ENST00000401335	ensembl	human	novel	74_37	rna	22	0	15.38	0.00	4	0	DEL	0.008:0.004:0.004:0.003:0.003:0.003:0.005:0.006:0.007:0.007:0.007:0.006:0.005:0.003:0.004:0.003:0.005:0.006:0.012:0.017:0.021:0.026:0.029:0.032:0.035:0.037	0
MAML2	84441	genome.wustl.edu	37	11	95825372	95825374	+	In_Frame_Del	DEL	TGT	TGT	-	rs60727839|rs543548810|rs112603485|rs141671766	byFrequency	TCGA-4V-A9QQ-01A-11D-A423-09	TCGA-4V-A9QQ-10B-01D-A426-09	TGT	TGT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f2a14e3b-0b71-4e83-80dc-12ecb6f23e6a	5fbd240c-3130-4de3-a25a-ab3939ce41bb	g.chr11:95825372_95825374delTGT	ENST00000524717.1	-	2	3105_3107	c.1821_1823delACA	c.(1819-1824)caacag>cag	p.607_608QQ>Q		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	607					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.Q607Q(1)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				ctgctgctgctgttgctgctgct	0.532			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																		0		Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	1	Substitution - coding silent(1)	endometrium(1)																																								SO:0001651	inframe_deletion	0			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.1821_1823delACA	11.37:g.95825372_95825374delTGT	ENSP00000434552:p.Gln621del		A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	In_Frame_Del	DEL	pfam_Neuroggenic_mastermind-like_N	p.Q611in_frame_del	ENST00000524717.1	37	c.1823_1821	CCDS44714.1	11																																																																																			0	NULL		0.532	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML2	protein_coding	OTTHUMT00000395540.1	43	3	2.27	0.00	1	0	TGT		0	0		95825374	-1	no_errors	ENST00000524717	ensembl	human	known	74_37	in_frame_del	20	5	23.08	0.00	6	0	DEL	0.003:0.003:0.003	0
