#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
UTP11L	51118	genome.wustl.edu	37	1	38488445	38488445	+	Silent	SNP	T	T	G			TCGA-3G-AB0T-01A-11D-A423-09	TCGA-3G-AB0T-11A-11D-A426-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ba0511a7-debd-4491-b064-6973b32d5ccf	a2625641-0a2c-4c32-9c4b-cf1c9be835b5	g.chr1:38488445T>G	ENST00000373014.4	+	7	703	c.642T>G	c.(640-642)gtT>gtG	p.V214V	UTP11L_ENST00000537711.1_3'UTR|UTP11L_ENST00000488453.1_3'UTR	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar ribonucleoprotein (yeast)	214					nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleolus (GO:0005730)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AATTGTTCGTTATTGCTCAGA	0.398																																							0											0													90.0	86.0	88.0					1																	38488445		2203	4300	6503	SO:0001819	synonymous_variant	0			AF151852	CCDS429.1	1p34.3	2014-03-06	2014-03-06		ENSG00000183520	ENSG00000183520			24329	protein-coding gene	gene with protein product		609440				11860508, 10810093	Standard	NM_016037		Approved	CGI-94	uc001ccn.4	Q9Y3A2	OTTHUMG00000004435	ENST00000373014.4:c.642T>G	1.37:g.38488445T>G			A8K785|B4DJC6|D3DPT7|Q5VT93|Q9BS98|Q9NS31	Silent	SNP	pfam_SSU_processome_Utp11,pirsf_SSU_processome_Utp11	p.V214	ENST00000373014.4	37	c.642	CCDS429.1	1																																																																																			0	pfam_SSU_processome_Utp11,pirsf_SSU_processome_Utp11		0.398	UTP11L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP11L	protein_coding	OTTHUMT00000012962.1	56	182	0	1.09	0	2	T	NM_016037	0	0		38488445	1	no_errors	ENST00000373014	ensembl	human	known	74_37	silent	52	164	10.34	7.34	6	13	SNP	0.991	G
FMN2	56776	genome.wustl.edu	37	1	240421266	240421266	+	Missense_Mutation	SNP	A	A	G			TCGA-3G-AB0T-01A-11D-A423-09	TCGA-3G-AB0T-11A-11D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ba0511a7-debd-4491-b064-6973b32d5ccf	a2625641-0a2c-4c32-9c4b-cf1c9be835b5	g.chr1:240421266A>G	ENST00000319653.9	+	7	4317	c.4087A>G	c.(4087-4089)Aaa>Gaa	p.K1363E	FMN2_ENST00000545751.1_Intron	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1363	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ATTAAGCAACAAAAGATCACA	0.308																																							0											0													103.0	102.0	102.0					1																	240421266		2203	4298	6501	SO:0001583	missense	0			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.4087A>G	1.37:g.240421266A>G	ENSP00000318884:p.Lys1363Glu		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom	p.K1363E	ENST00000319653.9	37	c.4087	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	A	14.42	2.529713	0.44969	.	.	ENSG00000155816	ENST00000319653;ENST00000441342	T;T	0.68181	0.71;-0.31	5.42	4.3	0.51218	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.082456	0.50627	N	0.000120	T	0.79557	0.4466	M	0.73962	2.25	0.80722	D	1	P;D	0.76494	0.936;0.999	P;D	0.81914	0.841;0.995	T	0.80246	-0.1462	10	0.59425	D	0.04	.	11.3862	0.49787	0.9288:0.0:0.0712:0.0	.	9;1363	F5H2C1;Q9NZ56	.;FMN2_HUMAN	E	1363;9	ENSP00000318884:K1363E;ENSP00000388922:K9E	ENSP00000318884:K1363E	K	+	1	0	FMN2	238487889	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.445000	0.80570	1.010000	0.39314	0.459000	0.35465	AAA	0	pfam_FH2_Formin,smart_FH2_Formin		0.308	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	protein_coding	OTTHUMT00000096217.2	74	280	0	0.71	0	2	A	XM_371352	0	0		240421266	1	no_errors	ENST00000319653	ensembl	human	known	74_37	missense	79	246	9.2	6.46	8	17	SNP	1	G
NCKAP5	344148	genome.wustl.edu	37	2	133721327	133721327	+	Missense_Mutation	SNP	G	G	A	rs371738627		TCGA-3G-AB0T-01A-11D-A423-09	TCGA-3G-AB0T-11A-11D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ba0511a7-debd-4491-b064-6973b32d5ccf	a2625641-0a2c-4c32-9c4b-cf1c9be835b5	g.chr2:133721327G>A	ENST00000409261.1	-	8	918	c.545C>T	c.(544-546)aCc>aTc	p.T182I	NCKAP5_ENST00000409213.1_Missense_Mutation_p.T182I|NCKAP5_ENST00000405974.3_Missense_Mutation_p.T182I|NCKAP5_ENST00000317721.6_Missense_Mutation_p.T182I	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	182										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TAGCAATTTGGTCTTTTCTTT	0.368																																							0											0								G	ILE/THR,ILE/THR	0,3730		0,0,1865	171.0	165.0	167.0		545,545	3.5	1.0	2		167	1,8229		0,1,4114	no	missense,missense	NCKAP5	NM_207363.2,NM_207481.3	89,89	0,1,5979	AA,AG,GG		0.0122,0.0,0.0084	probably-damaging,probably-damaging	182/1910,182/591	133721327	1,11959	1865	4115	5980	SO:0001583	missense	0			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.545C>T	2.37:g.133721327G>A	ENSP00000387128:p.Thr182Ile		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	NULL	p.T182I	ENST00000409261.1	37	c.545	CCDS46418.1	2	.	.	.	.	.	.	.	.	.	.	G	17.54	3.415540	0.62511	0.0	1.22E-4	ENSG00000176771	ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661;ENST00000542834	T;T;T;T	0.48201	2.8;0.82;2.8;0.82	5.4	3.53	0.40419	.	.	.	.	.	T	0.42944	0.1225	N	0.14661	0.345	0.22066	N	0.999384	P;P;D	0.59357	0.852;0.948;0.985	P;P;P	0.55577	0.474;0.779;0.62	T	0.21552	-1.0242	9	0.52906	T	0.07	.	9.4065	0.38464	0.0:0.1626:0.6799:0.1575	.	157;182;182	O14513-3;O14513-2;O14513	.;.;NCKP5_HUMAN	I	182;182;182;182;182;157	ENSP00000387128:T182I;ENSP00000386952:T182I;ENSP00000380603:T182I;ENSP00000385692:T182I	ENSP00000380603:T182I	T	-	2	0	NCKAP5	133437797	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.613000	0.36900	0.786000	0.33708	0.650000	0.86243	ACC	0	NULL		0.368	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCKAP5	protein_coding	OTTHUMT00000331663.1	77	289	0	0.00	0	0	G	NM_207481	rs371738627	G->A		133721327	-1	no_errors	ENST00000317721	ensembl	human	known	74_37	missense	49	253	7.55	6.62	4	18	SNP	1	A
STK10	6793	genome.wustl.edu	37	5	171520785	171520785	+	Silent	SNP	G	G	A	rs146899945		TCGA-3G-AB0T-01A-11D-A423-09	TCGA-3G-AB0T-11A-11D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ba0511a7-debd-4491-b064-6973b32d5ccf	a2625641-0a2c-4c32-9c4b-cf1c9be835b5	g.chr5:171520785G>A	ENST00000176763.5	-	9	1528	c.1185C>T	c.(1183-1185)gtC>gtT	p.V395V	STK10_ENST00000517775.1_5'Flank	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	395					cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAGGGGCCACGACTGGGGGAC	0.632																																							0											0													44.0	46.0	45.0					5																	171520785		2203	4300	6503	SO:0001819	synonymous_variant	0			AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.1185C>T	5.37:g.171520785G>A			A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Silent	SNP	pfam_PKK,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.V395	ENST00000176763.5	37	c.1185	CCDS34290.1	5																																																																																			0	NULL		0.632	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK10	protein_coding	OTTHUMT00000372374.2	87	104	0	0.00	0	0	G	NM_005990	0	0		171520785	-1	no_errors	ENST00000176763	ensembl	human	known	74_37	silent	50	113	9.09	5.04	5	6	SNP	0	A
PRIM2	5558	genome.wustl.edu	37	6	57255004	57255004	+	Intron	SNP	A	A	T			TCGA-3G-AB0T-01A-11D-A423-09	TCGA-3G-AB0T-11A-11D-A426-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ba0511a7-debd-4491-b064-6973b32d5ccf	a2625641-0a2c-4c32-9c4b-cf1c9be835b5	g.chr6:57255004A>T	ENST00000389488.2	+	7	780				MIR548U_ENST00000390728.2_RNA|PRIM2_ENST00000607273.1_Intron			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		ttttgcgccaacctaaTAACA	0.363																																							0											0																																										SO:0001627	intron_variant	0				CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.780+8038A>T	6.37:g.57255004A>T			Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	RNA	SNP	0	NULL	ENST00000389488.2	37	NULL		6																																																																																			0	0		0.363	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	MIR548U	protein_coding	OTTHUMT00000043468.3	76	244	0	0.41	0	1	A	NM_000947	0	0		57255004	1	no_errors	ENST00000390728	ensembl	human	known	74_37	rna	54	141	12.7	6.58	8	10	SNP	0.016	T
ZAN	7455	genome.wustl.edu	37	7	100355891	100355891	+	RNA	SNP	G	G	A			TCGA-3G-AB0T-01A-11D-A423-09	TCGA-3G-AB0T-11A-11D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ba0511a7-debd-4491-b064-6973b32d5ccf	a2625641-0a2c-4c32-9c4b-cf1c9be835b5	g.chr7:100355891G>A	ENST00000348028.3	+	0	3541				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CAGTCGGGTCGAGTGCCAGAT	0.602																																							0											0													35.0	40.0	38.0					7																	100355891		2091	4217	6308			0			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100355891G>A			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.E1126K	ENST00000348028.3	37	c.3376		7	.	.	.	.	.	.	.	.	.	.	G	12.71	2.018683	0.35606	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.05081	3.5;3.5;3.5	4.21	-2.46	0.06461	.	0.931511	0.08896	N	0.877934	T	0.08492	0.0211	M	0.77616	2.38	0.22675	N	0.998868	B;B	0.24576	0.086;0.106	B;B	0.17979	0.012;0.02	T	0.32508	-0.9904	10	0.52906	T	0.07	.	5.3811	0.16192	0.2938:0.4415:0.2646:0.0	.	1126;1126	F5H0T8;Q9Y493	.;ZAN_HUMAN	K	1126	ENSP00000445943:E1126K;ENSP00000445091:E1126K;ENSP00000444427:E1126K	ENSP00000423579:E1126K	E	+	1	0	ZAN	100193827	0.004000	0.15560	0.008000	0.14137	0.014000	0.08584	-0.416000	0.07097	-0.513000	0.06496	-0.127000	0.14921	GAG	0	smart_VWC_out		0.602	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	polymorphic_pseudogene	OTTHUMT00000347214.1	46	70	0	0.00	0	0	G	NM_003386	0	0		100355891	1	no_errors	ENST00000546292	ensembl	human	known	74_37	missense	35	58	10.26	10.77	4	7	SNP	0.005	A
ANAPC5	51433	genome.wustl.edu	37	12	121756196	121756196	+	Nonsense_Mutation	SNP	G	G	A			TCGA-3G-AB0T-01A-11D-A423-09	TCGA-3G-AB0T-11A-11D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ba0511a7-debd-4491-b064-6973b32d5ccf	a2625641-0a2c-4c32-9c4b-cf1c9be835b5	g.chr12:121756196G>A	ENST00000261819.3	-	15	1898	c.1777C>T	c.(1777-1779)Cga>Tga	p.R593*	ANAPC5_ENST00000535482.1_Nonsense_Mutation_p.R259*|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000541887.1_Nonsense_Mutation_p.R580*|ANAPC5_ENST00000344395.4_Nonsense_Mutation_p.R481*|ANAPC5_ENST00000441917.2_Nonsense_Mutation_p.R481*	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	593					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GAGGAAGATCGCCAGTACAGC	0.547																																							0											0													109.0	95.0	100.0					12																	121756196		2203	4300	6503	SO:0001587	stop_gained	0			AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"""Anaphase promoting complex subunits"""	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.1777C>T	12.37:g.121756196G>A	ENSP00000261819:p.Arg593*		E9PFB2|Q8N4H7|Q9BQD4	Nonsense_Mutation	SNP	smart_TPR_repeat	p.R593*	ENST00000261819.3	37	c.1777	CCDS9220.1	12	.	.	.	.	.	.	.	.	.	.	G	37	6.479057	0.97598	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000535482;ENST00000544314;ENST00000344395	.	.	.	5.65	3.64	0.41730	.	0.202328	0.46758	D	0.000268	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	11.7146	0.51645	0.0:0.0:0.5057:0.4943	.	.	.	.	X	481;580;593;259;195;481	.	ENSP00000261819:R593X	R	-	1	2	ANAPC5	120240579	1.000000	0.71417	0.978000	0.43139	0.929000	0.56500	3.185000	0.50934	1.561000	0.49584	0.655000	0.94253	CGA	0	smart_TPR_repeat		0.547	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC5	protein_coding	OTTHUMT00000402582.1	60	96	1.64	0.00	1	0	G		0	0		121756196	-1	no_errors	ENST00000261819	ensembl	human	known	74_37	nonsense	40	89	11.11	8.25	5	8	SNP	0.994	A
TNFAIP8L1	126282	genome.wustl.edu	37	19	4652152	4652152	+	Missense_Mutation	SNP	C	C	T			TCGA-3G-AB0T-01A-11D-A423-09	TCGA-3G-AB0T-11A-11D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ba0511a7-debd-4491-b064-6973b32d5ccf	a2625641-0a2c-4c32-9c4b-cf1c9be835b5	g.chr19:4652152C>T	ENST00000536716.1	+	2	417	c.271C>T	c.(271-273)Cgc>Tgc	p.R91C	AC005339.2_ENST00000598070.1_RNA|TNFAIP8L1_ENST00000327473.4_Missense_Mutation_p.R91C	NM_001167942.1	NP_001161414.1	Q8WVP5	TP8L1_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 1	91					negative regulation of TOR signaling (GO:0032007)	cytoplasm (GO:0005737)				endometrium(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGGCGCTTCCGCCACCGGGC	0.701																																							0											0													23.0	24.0	24.0					19																	4652152		2153	4206	6359	SO:0001583	missense	0			BC017672	CCDS12132.1	19p13.3	2008-02-05				ENSG00000185361			28279	protein-coding gene	gene with protein product		615869				12477932	Standard	NM_001167942		Approved	MGC17791	uc002max.3	Q8WVP5		ENST00000536716.1:c.271C>T	19.37:g.4652152C>T	ENSP00000444215:p.Arg91Cys		D6W627	Missense_Mutation	SNP	pfam_DUF758	p.R91C	ENST00000536716.1	37	c.271	CCDS12132.1	19	.	.	.	.	.	.	.	.	.	.	C	18.00	3.525511	0.64860	.	.	ENSG00000185361	ENST00000327473;ENST00000536716	T;T	0.37411	1.2;1.2	4.44	4.44	0.53790	.	0.000000	0.64402	D	0.000001	T	0.58694	0.2140	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.64474	-0.6399	10	0.87932	D	0	-11.1172	11.3346	0.49496	0.1817:0.8183:0.0:0.0	.	91	Q8WVP5	TP8L1_HUMAN	C	91	ENSP00000331827:R91C;ENSP00000444215:R91C	ENSP00000331827:R91C	R	+	1	0	TNFAIP8L1	4603152	1.000000	0.71417	0.258000	0.24420	0.661000	0.39034	3.280000	0.51677	2.025000	0.59659	0.462000	0.41574	CGC	0	pfam_DUF758		0.701	TNFAIP8L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFAIP8L1	protein_coding	OTTHUMT00000458662.1	69	25	0	0.00	0	0	C	NM_152362	0	0		4652152	1	no_errors	ENST00000327473	ensembl	human	known	74_37	missense	43	22	10.42	12.00	5	3	SNP	0.993	T
TPSD1	23430	genome.wustl.edu	37	16	1306554	1306554	+	Silent	SNP	G	G	A			TCGA-3G-AB0T-01A-11D-A423-09	TCGA-3G-AB0T-11A-11D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba0511a7-debd-4491-b064-6973b32d5ccf	a2625641-0a2c-4c32-9c4b-cf1c9be835b5	g.chr16:1306554G>A	ENST00000211076.3	+	2	268	c.120G>A	c.(118-120)ggG>ggA	p.G40G	RP11-616M22.5_ENST00000566997.1_RNA|TPSD1_ENST00000397534.2_Silent_p.G33G	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	40	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				GCATTGTTGGGGGGCAGGAGG	0.697																																							0											0													45.0	57.0	53.0					16																	1306554		2199	4299	6498	SO:0001819	synonymous_variant	0			AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"""mMCP-7-like II"", ""mMCP-7-like I"", ""MMCP-7-LIKE-2"""	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.120G>A	16.37:g.1306554G>A			O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Silent	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1	p.G40	ENST00000211076.3	37	c.120	CCDS10432.1	16																																																																																			0	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.697	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPSD1	protein_coding	OTTHUMT00000250320.2	128	6	0	0.00	0	0	G		0	0		1306554	1	no_errors	ENST00000211076	ensembl	human	known	74_37	silent	68	1	10.53	0.00	8	0	SNP	0.035	A
FAM230C	26080	genome.wustl.edu	37	22	21663653	21663653	+	lincRNA	SNP	G	G	T			TCGA-3G-AB0T-01A-11D-A423-09	TCGA-3G-AB0T-11A-11D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba0511a7-debd-4491-b064-6973b32d5ccf	a2625641-0a2c-4c32-9c4b-cf1c9be835b5	g.chr22:21663653G>T	ENST00000436681.1	-	0	517																											CGCTGGCGATGCCGTGGGCGG	0.711																																							0											0																																												0																															22.37:g.21663653G>T				RNA	SNP	0	NULL	ENST00000436681.1	37	NULL		22																																																																																			0	0		0.711	KB-1183D5.13-003	KNOWN	basic	lincRNA	FAM230C	lincRNA	OTTHUMT00000320109.1	43	3	2.27	0.00	1	0	G		0	0		21663653	-1	no_errors	ENST00000436681	ensembl	human	known	74_37	rna	32	1	21.95	0.00	9	0	SNP	0.747	T
TTC13	79573	genome.wustl.edu	37	1	231114527	231114527	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3G-AB0T-01A-11D-A423-09	TCGA-3G-AB0T-11A-11D-A426-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba0511a7-debd-4491-b064-6973b32d5ccf	a2625641-0a2c-4c32-9c4b-cf1c9be835b5	g.chr1:231114527delA	ENST00000366661.4	-	1	57	c.50delT	c.(49-51)gtgfs	p.V17fs	ARV1_ENST00000310256.2_5'Flank|TTC13_ENST00000366662.4_Frame_Shift_Del_p.V17fs|TTC13_ENST00000414259.1_Frame_Shift_Del_p.V17fs|ARV1_ENST00000366658.2_5'Flank	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	17										central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		cgcggcggccACAGCGCCGCC	0.751																																							0											0													1.0	1.0	1.0					1																	231114527		569	1285	1854	SO:0001589	frameshift_variant	0				CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"""Tetratricopeptide (TTC) repeat domain containing"""	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.50delT	1.37:g.231114527delA	ENSP00000355621:p.Val17fs		B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Frame_Shift_Del	DEL	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.V17fs	ENST00000366661.4	37	c.50	CCDS1588.1	1																																																																																			0	NULL		0.751	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC13	protein_coding	OTTHUMT00000092229.2	22	0	0	0.00	0	0	A	NM_024525	0	0		231114527	-1	no_errors	ENST00000366661	ensembl	human	known	74_37	frame_shift_del	4	0	33.33	0.00	2	0	DEL	0.958	0
CASR	846	genome.wustl.edu	37	3	122000728	122000729	+	Intron	DEL	TG	TG	-	rs200602784|rs10533065	byFrequency	TCGA-3G-AB0T-01A-11D-A423-09	TCGA-3G-AB0T-11A-11D-A426-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba0511a7-debd-4491-b064-6973b32d5ccf	a2625641-0a2c-4c32-9c4b-cf1c9be835b5	g.chr3:122000728_122000729delTG	ENST00000490131.1	+	6	1980				CASR_ENST00000498619.1_Intron|AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000296154.5_Intron	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor						anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	tgcatgcacatgtgtgtgtgtg	0.446																																							0											0																																										SO:0001627	intron_variant	0			U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.1609-231TG>-	3.37:g.122000738_122000739delTG			Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	RNA	DEL	0	NULL	ENST00000490131.1	37	NULL	CCDS3010.1	3																																																																																			0	0		0.446	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000221474	protein_coding	OTTHUMT00000355761.1	23	0	0	0.00	0	0	TG	NM_000388	0	0		122000729	1	no_errors	ENST00000408547	ensembl	human	novel	74_37	rna	16	0	20	0.00	4	0	DEL	0.000:0.001	0
MAP7	9053	genome.wustl.edu	37	6	136682169	136682169	+	Frame_Shift_Del	DEL	C	C	-			TCGA-3G-AB0T-01A-11D-A423-09	TCGA-3G-AB0T-11A-11D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba0511a7-debd-4491-b064-6973b32d5ccf	a2625641-0a2c-4c32-9c4b-cf1c9be835b5	g.chr6:136682169delC	ENST00000354570.3	-	12	2085	c.1675delG	c.(1675-1677)gagfs	p.E560fs	MAP7_ENST00000454590.1_Frame_Shift_Del_p.E582fs|MAP7_ENST00000438100.2_Frame_Shift_Del_p.E545fs|MAP7_ENST00000544465.1_Frame_Shift_Del_p.E545fs|MAP7_ENST00000432797.2_Frame_Shift_Del_p.E414fs	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	560					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TCTGCCTCCTCCCGCTCGCGC	0.766																																							0											0													7.0	8.0	8.0					6																	136682169		2165	4168	6333	SO:0001589	frameshift_variant	0			X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.1675delG	6.37:g.136682169delC	ENSP00000346581:p.Glu560fs		B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Frame_Shift_Del	DEL	pfam_MAP7	p.E581fs	ENST00000354570.3	37	c.1741	CCDS5178.1	6																																																																																			0	pfam_MAP7		0.766	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP7	protein_coding	OTTHUMT00000042382.2	23	8	0	0.00	0	0	C	NM_003980	0	0		136682169	-1	no_errors	ENST00000454590	ensembl	human	known	74_37	frame_shift_del	8	8	20	0.00	2	0	DEL	1	0
SIX4	51804	genome.wustl.edu	37	14	61190488	61190490	+	In_Frame_Del	DEL	GCG	GCG	-	rs553541468	byFrequency	TCGA-3G-AB0T-01A-11D-A423-09	TCGA-3G-AB0T-11A-11D-A426-09	GCG	GCG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba0511a7-debd-4491-b064-6973b32d5ccf	a2625641-0a2c-4c32-9c4b-cf1c9be835b5	g.chr14:61190488_61190490delGCG	ENST00000216513.4	-	1	362_364	c.303_305delCGC	c.(301-306)gccgcg>gcg	p.101_102AA>A		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	101	Ala-rich.				anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		CGGGGTCTGCGCGGCGGCGGCGG	0.744																																							0											0										8,2428		1,6,1211						3.2	1.0			1	9,4799		0,9,2395	no	coding	SIX4	NM_017420.4		1,15,3606	A1A1,A1R,RR		0.1872,0.3284,0.2347				17,7227				SO:0001651	inframe_deletion	0			AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"""Homeoboxes / SINE class"""	10890	protein-coding gene	gene with protein product		606342	"""sine oculis homeobox (Drosophila) homolog 4"", ""sine oculis homeobox homolog 4 (Drosophila)"""			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.303_305delCGC	14.37:g.61190497_61190499delGCG	ENSP00000216513:p.Ala102del		Q4QQH5|Q4V764	In_Frame_Del	DEL	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.A102in_frame_del	ENST00000216513.4	37	c.305_303	CCDS9749.2	14																																																																																			0	NULL		0.744	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIX4	protein_coding	OTTHUMT00000072397.2	9	15	0	0.00	0	0	GCG		0	0		61190490	-1	no_errors	ENST00000216513	ensembl	human	known	74_37	in_frame_del	4	8	33.33	0.00	2	0	DEL	1.000:0.999:0.999	0
