#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_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_Chromosome_hg18	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_End_position_hg18	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_Start_position_hg18	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_reference	i_refseq_mrna_id	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_type	i_ucsc_cons	i_variant
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	G	G	A			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	G	G					Unknown	Invalid:failed_liftOver	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chrUnknown:0G>A								None (None upstream) : None (None downstream)																								0.0																																																0			MT																																								9381	SO:0001628	intergenic_variant	4514																															Unknown.37:g.0G>A			9381		Silent	SNP	superfamily_CytC_oxdse_III,HMMPfam_COX3	p.W58		37	c.174		MT																																																																																			-	superfamily_CytC_oxdse_III,HMMPfam_COX3	0	0					MT-CO3			G			9381	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000362079	ensembl	human	known	54_36p	silent	SNP	NULL	A
SIRPA	140885	genome.wustl.edu	37	20	1915398	1915398	+	Nonsense_Mutation	SNP	C	C	T			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr20:1915398C>T	ENST00000358771.4	+	7	1416	c.1264C>T	c.(1264-1266)Cag>Tag	p.Q422*	SIRPA_ENST00000400068.3_Nonsense_Mutation_p.Q422*|SIRPA_ENST00000356025.3_Nonsense_Mutation_p.Q422*	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	422					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		AGAAATAACACAGGTACAGTC	0.453																																					GBM(155;1668 1920 5945 42733 48121)											0			20											156.0	135.0	142.0					20																	1915398		2203	4300	6503	1863398	SO:0001587	stop_gained	140885			D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	9662	protein-coding gene	gene with protein product		602461	"""protein tyrosine phosphatase, non-receptor type substrate 1"""	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.1264C>T	20.37:g.1915398C>T	ENSP00000351621:p.Gln422*		1863398	A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Nonsense_Mutation	SNP	HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IG,HMMPfam_C1-set,HMMSmart_IGc1	p.Q422*	ENST00000358771.4	37	c.1264	CCDS13022.1	20	.	.	.	.	.	.	.	.	.	.	C	36	5.786917	0.96937	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	.	.	.	4.43	4.43	0.53597	.	0.000000	0.41097	D	0.000946	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	12.7286	0.57185	0.0:1.0:0.0:0.0	.	.	.	.	X	422	.	ENSP00000348307:Q422X	Q	+	1	0	SIRPA	1863398	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.136000	0.58004	2.456000	0.83038	0.561000	0.74099	CAG	-	NULL		0.453	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SIRPA	protein_coding	OTTHUMT00000077568.2	C	NM_080792		1863398	+1	no_errors	NM_001040022	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	T
ZNF77	58492	genome.wustl.edu	37	19	2934297	2934297	+	Silent	SNP	G	G	T			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr19:2934297G>T	ENST00000314531.4	-	4	920	c.828C>A	c.(826-828)gcC>gcA	p.A276A		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	276					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		GACAGCTGAAGGCTTTCCCAC	0.438																																																0			19											116.0	106.0	110.0					19																	2934297		2203	4300	6503	2885297	SO:0001819	synonymous_variant	58492			X65230	CCDS12099.1	19p13.3	2013-01-08	2006-05-12					"""Zinc fingers, C2H2-type"", ""-"""	13150	protein-coding gene	gene with protein product		194551	"""zinc finger protein 77 (pT1)"""			8478004	Standard	NM_021217		Approved	pT1	uc002lws.4	Q15935		ENST00000314531.4:c.828C>A	19.37:g.2934297G>T			2885297	Q86XJ3|Q9NPP0	Silent	SNP	superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.A276	ENST00000314531.4	37	c.828	CCDS12099.1	19																																																																																			-	superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1		0.438	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF77	protein_coding	OTTHUMT00000451924.1	G	NM_021217		2885297	-1	no_errors	NM_021217	genbank	human	validated	54_36p	silent	SNP	0.014	T
OR7E43P	26475	genome.wustl.edu	37	4	4176749	4176749	+	IGR	SNP	G	G	A			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr4:4176749G>A								AC116562.1 (90541 upstream) : OTOP1 (13780 downstream)																							CTTGGGGACCGTGGGGGAGGG	0.547																																																0			4																																								4227650	SO:0001628	intergenic_variant	0																															4.37:g.4176749G>A			4227650		Missense_Mutation	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1	p.T84M		37	c.251		4																																																																																			-	superfamily_Family A G protein-coupled receptor-like	0	0.547					ENSG00000188954			G			4227650	-1	no_start_codon:no_stop_codon	ENST00000342858	ensembl	human	known	54_36p	missense	SNP	0.000	A
TPTE	7179	genome.wustl.edu	37	21	10941965	10941965	+	Silent	SNP	A	A	G			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr21:10941965A>G	ENST00000361285.4	-	14	1067	c.738T>C	c.(736-738)atT>atC	p.I246I	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Silent_p.I228I|TPTE_ENST00000342420.5_Silent_p.I208I	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	246	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACATAGCAATAATACGTTCTA	0.284																																																0			21											196.0	188.0	191.0					21																	10941965		2203	4296	6499	9963836	SO:0001819	synonymous_variant	7179			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.738T>C	21.37:g.10941965A>G			9963836	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Silent	SNP	superfamily_Voltage-gated potassium channels,superfamily_(Phosphotyrosine protein) phosphatases II,PatternScan_TYR_PHOSPHATASE_1,HMMPfam_PTEN_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB)	p.I246	ENST00000361285.4	37	c.738	CCDS13560.2	21																																																																																			-	superfamily_(Phosphotyrosine protein) phosphatases II		0.284	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPTE	protein_coding	OTTHUMT00000157413.1	A			9963836	-1	no_errors	NM_199261	genbank	human	validated	54_36p	silent	SNP	1.000	G
GRHL1	29841	genome.wustl.edu	37	2	10104439	10104439	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr2:10104439C>G	ENST00000324907.9	+	7	1115	c.979C>G	c.(979-981)Cgg>Ggg	p.R327G	GRHL1_ENST00000405379.2_Missense_Mutation_p.R327G|GRHL1_ENST00000324883.5_Missense_Mutation_p.R138G	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	327					cellular lipid metabolic process (GO:0044255)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		CTGGCACTCCCGGCAGCACAC	0.448																																																0			2											101.0	97.0	99.0					2																	10104439		2203	4300	6503	10021890	SO:0001583	missense	29841			AF198489	CCDS33144.1, CCDS33144.2	2p25.2	2008-02-05	2005-07-11	2005-07-11	ENSG00000134317	ENSG00000134317			17923	protein-coding gene	gene with protein product		609786	"""transcription factor CP2-like 2"""	TFCP2L2		10644752, 12393799	Standard	NM_198182		Approved	LBP-32, MGR	uc002raa.3	Q9NZI5	OTTHUMG00000151704	ENST00000324907.9:c.979C>G	2.37:g.10104439C>G	ENSP00000324693:p.Arg327Gly		10021890	A6NLA4|B2R7E4|B5MEC2|Q53T93|Q6NWN7|Q6NWN8|Q6NWN9|Q8NI33	Missense_Mutation	SNP	HMMPfam_CP2	p.R327G	ENST00000324907.9	37	c.979	CCDS33144.2	2	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495448	0.64186	.	.	ENSG00000134317	ENST00000405379;ENST00000324883;ENST00000324907	T;T;T	0.18810	2.19;2.19;2.19	5.0	4.07	0.47477	CP2 transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.38957	0.1060	L	0.48642	1.525	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.83275	0.929;0.996	T	0.20107	-1.0285	10	0.87932	D	0	.	14.4373	0.67290	0.2066:0.7934:0.0:0.0	.	138;327	Q9NZI5-2;Q9NZI5	.;GRHL1_HUMAN	G	327;138;327	ENSP00000384209:R327G;ENSP00000324494:R138G;ENSP00000324693:R327G	ENSP00000324494:R138G	R	+	1	2	GRHL1	10021890	0.886000	0.30341	1.000000	0.80357	0.995000	0.86356	1.915000	0.39976	2.494000	0.84150	0.655000	0.94253	CGG	-	HMMPfam_CP2		0.448	GRHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRHL1	protein_coding	OTTHUMT00000323543.2	C	NM_014552		10021890	+1	no_errors	NM_014552	genbank	human	reviewed	54_36p	missense	SNP	0.995	G
TEKT3	64518	genome.wustl.edu	37	17	15217485	15217485	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr17:15217485C>T	ENST00000395930.1	-	6	983	c.797G>A	c.(796-798)cGg>cAg	p.R266Q	TEKT3_ENST00000338696.2_Missense_Mutation_p.R266Q|RNU6-799P_ENST00000363567.1_RNA	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	266					cilium morphogenesis (GO:0060271)|regulation of fertilization (GO:0080154)|sperm motility (GO:0030317)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		GTCGTCGATCCGGTAAGCCGT	0.567																																																0			17											264.0	167.0	200.0					17																	15217485		2203	4300	6503	15158210	SO:0001583	missense	64518			AF334676	CCDS11169.1	17p12	2011-05-23			ENSG00000125409	ENSG00000125409			14293	protein-coding gene	gene with protein product		612683				11381029, 14735490	Standard	NM_031898		Approved	FLJ32828	uc002gon.3	Q9BXF9	OTTHUMG00000058965	ENST00000395930.1:c.797G>A	17.37:g.15217485C>T	ENSP00000379263:p.Arg266Gln		15158210	B2RAS7|D3DTT0|Q8N5R5|Q96M48	Missense_Mutation	SNP	HMMPfam_Tektin	p.R266Q	ENST00000395930.1	37	c.797	CCDS11169.1	17	.	.	.	.	.	.	.	.	.	.	C	11.73	1.726430	0.30593	.	.	ENSG00000125409	ENST00000395930;ENST00000338696;ENST00000539245	T;T;T	0.02446	4.29;4.29;4.29	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.05090	0.0136	M	0.64260	1.97	0.49389	D	0.999786	B	0.06786	0.001	B	0.11329	0.006	T	0.35847	-0.9772	10	0.27082	T	0.32	-13.2261	14.451	0.67385	0.0:0.9273:0.0:0.0727	.	266	Q9BXF9	TEKT3_HUMAN	Q	266;266;100	ENSP00000379263:R266Q;ENSP00000343995:R266Q;ENSP00000443280:R100Q	ENSP00000343995:R266Q	R	-	2	0	TEKT3	15158210	0.997000	0.39634	0.177000	0.23020	0.051000	0.14879	4.703000	0.61824	2.549000	0.85964	0.655000	0.94253	CGG	-	HMMPfam_Tektin		0.567	TEKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT3	protein_coding	OTTHUMT00000130385.2	C	NM_031898		15158210	-1	no_errors	NM_031898	genbank	human	reviewed	54_36p	missense	SNP	0.992	T
HERC2P3	283755	genome.wustl.edu	37	15	20645830	20645830	+	RNA	SNP	G	G	A	rs149171357	byFrequency	TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr15:20645830G>A	ENST00000428453.1	-	0	2935							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CACCTGCAGCGTGAGAGCGAT	0.617																																																0			15						G		5,4391		0,5,2193	63.0	41.0	48.0			1.5	0.2	15	dbSNP_134	48	0,8550		0,0,4275	no	intergenic				0,5,6468	AA,AG,GG		0.0,0.1137,0.0386			20645830	5,12941	2198	4275	6473	18905844			400322			AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20645830G>A			18905844		Missense_Mutation	SNP	HMMPfam_MIB_HERC2	p.T749M	ENST00000428453.1	37	c.2246		15																																																																																			-	NULL		0.617	HERC2P3-014	KNOWN	basic	processed_transcript	HERC2P2	pseudogene	OTTHUMT00000347772.2	G	NG_008269		18905844	-1	no_errors	ENST00000324413	ensembl	human	known	54_36p	missense	SNP	1.000	A
BMP1	649	genome.wustl.edu	37	8	22054899	22054899	+	Silent	SNP	G	G	A			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr8:22054899G>A	ENST00000306385.5	+	15	2743	c.2073G>A	c.(2071-2073)gtG>gtA	p.V691V	BMP1_ENST00000306349.8_Silent_p.V691V|BMP1_ENST00000397816.3_Silent_p.V691V|BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	691	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		ACAACACCGTGTCCAAAAAGG	0.567																																																0			8											232.0	211.0	218.0					8																	22054899		2203	4300	6503	22110844	SO:0001819	synonymous_variant	649				CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.2073G>A	8.37:g.22054899G>A			22110844	A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Silent	SNP	"superfamily_Metalloproteases (""zincins"") catalytic domain,HMMSmart_SM00235,HMMPfam_Astacin,superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,PatternScan_EGF_CA,HMMSmart_SM00179,HMMPfam_EGF_CA,superfamily_EGF/Laminin,HMMSmart_SM00181,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2,HMMPfam_EGF"	p.V691	ENST00000306385.5	37	c.2073	CCDS6026.1	8																																																																																			-	superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042		0.567	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP1	protein_coding	OTTHUMT00000214995.2	G	NM_006132		22110844	+1	no_errors	NM_006129	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
DROSHA	29102	genome.wustl.edu	37	5	31504699	31504699	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr5:31504699C>T	ENST00000511367.2	-	10	1875	c.1631G>A	c.(1630-1632)cGc>cAc	p.R544H	DROSHA_ENST00000442743.1_Missense_Mutation_p.R507H|DROSHA_ENST00000513349.1_Missense_Mutation_p.R507H|Y_RNA_ENST00000383955.1_RNA|DROSHA_ENST00000344624.3_Missense_Mutation_p.R544H	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	544	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						AATTCCTGTGCGTCTTGCCTT	0.423																																																0			5											174.0	160.0	165.0					5																	31504699		1971	4181	6152	31540456	SO:0001583	missense	29102			AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.1631G>A	5.37:g.31504699C>T	ENSP00000425979:p.Arg544His		31540456	E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	superfamily_RNase III catalytic domain-like (Pfam 00636),HMMSmart_SM00535,PatternScan_RNASE_3_1,HMMPfam_Ribonuclease_3,superfamily_dsRNA-binding domain-like,HMMPfam_dsrm,HMMSmart_SM00358	p.R544H	ENST00000511367.2	37	c.1631	CCDS47195.1	5	.	.	.	.	.	.	.	.	.	.	C	29.9	5.045042	0.93685	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188	T;T;T;T	0.51574	1.33;1.33;0.7;0.7	5.11	5.11	0.69529	.	0.055516	0.64402	D	0.000001	T	0.69655	0.3135	M	0.74647	2.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;P	0.70016	0.967;0.927;0.904	T	0.72659	-0.4226	10	0.87932	D	0	-18.2672	19.0785	0.93173	0.0:1.0:0.0:0.0	.	476;507;544	Q9NRR4-2;E7EMP9;Q9NRR4	.;.;RNC_HUMAN	H	544;544;507;507;469;500	ENSP00000425979:R544H;ENSP00000339845:R544H;ENSP00000409335:R507H;ENSP00000424161:R507H	ENSP00000265075:R469H	R	-	2	0	DROSHA	31540456	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.873000	0.75541	2.802000	0.96397	0.563000	0.77884	CGC	-	NULL		0.423	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASEN	protein_coding	OTTHUMT00000366561.3	C	NM_013235		31540456	-1	no_errors	NM_013235	genbank	human	validated	54_36p	missense	SNP	1.000	T
TOM1	10043	genome.wustl.edu	37	22	35719857	35719857	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr22:35719857G>A	ENST00000449058.2	+	6	723	c.598G>A	c.(598-600)Gcc>Acc	p.A200T	TOM1_ENST00000436462.2_Missense_Mutation_p.A162T|TOM1_ENST00000382034.5_Missense_Mutation_p.A133T|TOM1_ENST00000425375.1_Missense_Mutation_p.A155T|TOM1_ENST00000447733.1_Missense_Mutation_p.A167T|TOM1_ENST00000411850.1_Missense_Mutation_p.A200T	NM_005488.2	NP_005479.1	O60784	TOM1_HUMAN	target of myb1 (chicken)	200					endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	clathrin binding (GO:0030276)			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						CCCTCTGCCCGCCCCGCCCAT	0.617																																																0			22											62.0	60.0	61.0					22																	35719857		2203	4300	6503	34049857	SO:0001583	missense	10043			AJ006973	CCDS13913.1, CCDS46696.1, CCDS46697.1, CCDS46698.1	22q13.1	2011-01-31	2001-11-28		ENSG00000100284	ENSG00000100284			11982	protein-coding gene	gene with protein product		604700	"""target of myb1 (chicken) homolog"""			10329004, 15047686	Standard	NM_005488		Approved		uc003anp.3	O60784	OTTHUMG00000150958	ENST00000449058.2:c.598G>A	22.37:g.35719857G>A	ENSP00000394466:p.Ala200Thr		34049857	B4DEL9|B4DNA1|Q5TIJ6|Q86X74	Missense_Mutation	SNP	superfamily_ENTH_VHS,HMMPfam_VHS,HMMSmart_VHS,superfamily_SSF89009,HMMPfam_GAT	p.A200T	ENST00000449058.2	37	c.598	CCDS13913.1	22	.	.	.	.	.	.	.	.	.	.	G	7.015	0.557635	0.13436	.	.	ENSG00000100284	ENST00000447733;ENST00000456128;ENST00000449058;ENST00000411850;ENST00000425375;ENST00000451197;ENST00000436462;ENST00000382034	T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;2.0;1.0;1.0	4.87	-8.69	0.00855	.	0.955971	0.08715	N	0.904412	T	0.12561	0.0305	N	0.01505	-0.83	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.001;0.001;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.001;0.001;0.001;0.0	T	0.39375	-0.9617	10	0.13853	T	0.58	-1.3676	10.7814	0.46379	0.1533:0.1389:0.6195:0.0883	.	155;162;209;200;200	O60784-3;E7EPD0;B4DKQ5;O60784-2;O60784	.;.;.;.;TOM1_HUMAN	T	167;194;200;200;155;209;162;133	ENSP00000398876:A167T;ENSP00000393714:A194T;ENSP00000394466:A200T;ENSP00000413697:A200T;ENSP00000394924:A155T;ENSP00000402556:A162T;ENSP00000371465:A133T	ENSP00000371465:A133T	A	+	1	0	TOM1	34049857	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.668000	0.01959	-2.059000	0.00894	-1.021000	0.02439	GCC	-	superfamily_SSF89009		0.617	TOM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TOM1	protein_coding	OTTHUMT00000320641.1	G	NM_005488		34049857	+1	no_errors	NM_005488	genbank	human	reviewed	54_36p	missense	SNP	0.000	A
RBL1	5933	genome.wustl.edu	37	20	35635838	35635838	+	Silent	SNP	G	G	A			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr20:35635838G>A	ENST00000373664.3	-	20	2913	c.2847C>T	c.(2845-2847)taC>taT	p.Y949Y	RBL1_ENST00000344359.3_Silent_p.Y949Y	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	949	Domain B.|Pocket; binds T and E1A.				chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)	p.Y949Y(1)		NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TCGCCAAGTCGTATTTCAGTG	0.328																																																1	Substitution - coding silent(1)	ovary(1)	20											141.0	136.0	138.0					20																	35635838		2203	4300	6503	35069252	SO:0001819	synonymous_variant	5933			L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.2847C>T	20.37:g.35635838G>A			35069252	A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Silent	SNP	HMMPfam_RB_A,superfamily_Cyclin-like,HMMPfam_RB_B,HMMSmart_SM00385	p.Y949	ENST00000373664.3	37	c.2847	CCDS13289.1	20																																																																																			-	superfamily_Cyclin-like		0.328	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBL1	protein_coding	OTTHUMT00000079067.2	G	NM_002895		35069252	-1	no_errors	NM_002895	genbank	human	reviewed	54_36p	silent	SNP	0.916	A
CNP	1267	genome.wustl.edu	37	17	40120332	40120332	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr17:40120332G>C	ENST00000393892.3	+	2	394	c.250G>C	c.(250-252)Gac>Cac	p.D84H	TTC25_ENST00000591658.1_RNA|CNP_ENST00000472031.1_Intron|CNP_ENST00000393888.1_Missense_Mutation_p.D64H|CNP_ENST00000591072.1_Intron|CNP_ENST00000592446.1_3'UTR	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase	84					adult locomotory behavior (GO:0008344)|aging (GO:0007568)|axonogenesis (GO:0007409)|cyclic nucleotide catabolic process (GO:0009214)|microtubule cytoskeleton organization (GO:0000226)|oligodendrocyte differentiation (GO:0048709)|regulation of mitochondrial membrane permeability (GO:0046902)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule (GO:0005874)|microvillus (GO:0005902)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|myelin sheath abaxonal region (GO:0035748)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity (GO:0004113)|cyclic nucleotide binding (GO:0030551)|RNA binding (GO:0003723)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		GGTGTCGGCTGACGCTTACAA	0.637																																																0			17											31.0	34.0	33.0					17																	40120332		2089	4203	6292	37373858	SO:0001583	missense	1267				CCDS11414.2	17q21	2008-02-05			ENSG00000173786	ENSG00000173786	3.1.4.37		2158	protein-coding gene	gene with protein product		123830				1322358	Standard	XM_006721701		Approved		uc002hyl.1	P09543	OTTHUMG00000133502	ENST00000393892.3:c.250G>C	17.37:g.40120332G>C	ENSP00000377470:p.Asp84His		37373858		Missense_Mutation	SNP	HMMPfam_CNPase,superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_LigT-like	p.D84H	ENST00000393892.3	37	c.250	CCDS11414.2	17	.	.	.	.	.	.	.	.	.	.	G	20.9	4.069619	0.76301	.	.	ENSG00000173786	ENST00000393892;ENST00000310262;ENST00000393888	T;T	0.60171	0.21;0.21	4.63	4.63	0.57726	Zeta toxin domain (1);	0.211620	0.47455	D	0.000232	D	0.82421	0.5033	M	0.93375	3.41	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.985;0.982	D	0.87493	0.2428	10	0.87932	D	0	-23.5762	18.0265	0.89270	0.0:0.0:1.0:0.0	.	84;84;64	B4DI06;P09543;P09543-2	.;CN37_HUMAN;.	H	84;84;64	ENSP00000377470:D84H;ENSP00000377466:D64H	ENSP00000309643:D84H	D	+	1	0	CNP	37373858	1.000000	0.71417	0.178000	0.23040	0.574000	0.36063	8.371000	0.90123	2.557000	0.86248	0.455000	0.32223	GAC	-	HMMPfam_CNPase,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.637	CNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNP	protein_coding	OTTHUMT00000257443.2	G			37373858	+1	no_errors	NM_033133	genbank	human	validated	54_36p	missense	SNP	0.994	C
C17orf53	78995	genome.wustl.edu	37	17	42230075	42230075	+	Missense_Mutation	SNP	C	C	T	rs146791155		TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr17:42230075C>T	ENST00000319977.4	+	5	1616	c.1379C>T	c.(1378-1380)aCg>aTg	p.T460M	C17orf53_ENST00000245382.6_Intron|C17orf53_ENST00000585683.1_Missense_Mutation_p.T460M	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	460										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		ATGAAATCCACGCTAGGCCTG	0.562																																																0			17						C	MET/THR,MET/THR	0,4406		0,0,2203	134.0	118.0	123.0		1379,1379	1.2	0.3	17	dbSNP_134	123	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	C17orf53	NM_001171251.1,NM_024032.3	81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	460/647,460/648	42230075	1,13005	2203	4300	6503	39585601	SO:0001583	missense	78995			AK021656	CCDS11477.1, CCDS59293.1	17q21.31	2012-10-11			ENSG00000125319	ENSG00000125319			28460	protein-coding gene	gene with protein product							Standard	NM_001171251		Approved	MGC3130	uc002ifi.2	Q8N3J3	OTTHUMG00000181808	ENST00000319977.4:c.1379C>T	17.37:g.42230075C>T	ENSP00000313500:p.Thr460Met		39585601	A8K7A9|Q9BWM9|Q9HAI1	Missense_Mutation	SNP	NULL	p.T460M	ENST00000319977.4	37	c.1379	CCDS11477.1	17	.	.	.	.	.	.	.	.	.	.	C	12.81	2.049088	0.36181	0.0	1.16E-4	ENSG00000125319	ENST00000319977	T	0.44881	0.91	5.76	1.19	0.21007	.	0.815462	0.10733	N	0.640423	T	0.25195	0.0612	N	0.22421	0.69	0.80722	D	1	B;B	0.32031	0.352;0.352	B;B	0.28553	0.091;0.091	T	0.07829	-1.0752	10	0.54805	T	0.06	-0.2248	5.366	0.16113	0.4652:0.3672:0.0:0.1676	.	460;460	A8K7A9;Q8N3J3	.;CQ053_HUMAN	M	460	ENSP00000313500:T460M	ENSP00000313500:T460M	T	+	2	0	C17orf53	39585601	0.978000	0.34361	0.286000	0.24833	0.742000	0.42306	2.846000	0.48262	0.368000	0.24481	-0.263000	0.10527	ACG	-	NULL		0.562	C17orf53-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C17orf53	protein_coding	OTTHUMT00000457697.1	C	NM_024032		39585601	+1	no_errors	NM_024032	genbank	human	predicted	54_36p	missense	SNP	0.988	T
SPATA31A6	389730	genome.wustl.edu	37	9	43627309	43627309	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr9:43627309T>C	ENST00000332857.6	-	4	1406	c.1378A>G	c.(1378-1380)Act>Gct	p.T460A	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	460					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GACATTGTAGTCTCCCTTTGA	0.517																																																0			9											54.0	66.0	63.0					9																	43627309		614	1534	2148	43567305	SO:0001583	missense	0				CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1378A>G	9.37:g.43627309T>C	ENSP00000329825:p.Thr460Ala		43567305		Missense_Mutation	SNP	NULL	p.T460A	ENST00000332857.6	37	c.1378	CCDS47973.1	9	.	.	.	.	.	.	.	.	.	.	T	0.884	-0.727920	0.03158	.	.	ENSG00000185775	ENST00000332857	T	0.05855	3.38	2.5	0.489	0.16854	.	0.896444	0.09467	N	0.798143	T	0.03348	0.0097	N	0.24115	0.695	0.09310	N	1	B	0.17465	0.022	B	0.20955	0.032	T	0.46470	-0.9189	10	0.02654	T	1	-0.2515	3.5273	0.07763	0.0:0.5695:0.267:0.1635	.	460	Q5VVP1	F75A6_HUMAN	A	460	ENSP00000329825:T460A	ENSP00000329825:T460A	T	-	1	0	FAM75A6	43567305	0.035000	0.19736	0.028000	0.17463	0.002000	0.02628	0.107000	0.15375	0.128000	0.18479	-0.562000	0.04174	ACT	-	NULL		0.517	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM75A6	protein_coding	OTTHUMT00000036987.1	T	NM_001145196		43567305	-1	no_errors	ENST00000332857	ensembl	human	known	54_36p	missense	SNP	0.073	C
SLC12A5	57468	genome.wustl.edu	37	20	44685812	44685812	+	Silent	SNP	C	C	T			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr20:44685812C>T	ENST00000454036.2	+	25	3247	c.3198C>T	c.(3196-3198)aaC>aaT	p.N1066N	SLC12A5_ENST00000243964.3_Silent_p.N1043N	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	1066					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCCGCAGGAACCAGTCCAACG	0.637																																																0			20											48.0	50.0	50.0					20																	44685812		2203	4300	6503	44119219	SO:0001819	synonymous_variant	57468			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.3198C>T	20.37:g.44685812C>T			44119219	A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	HMMPfam_AA_permease	p.N1043	ENST00000454036.2	37	c.3129	CCDS46610.1	20																																																																																			-	NULL		0.637	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	SLC12A5	protein_coding	OTTHUMT00000471538.1	C			44119219	+1	no_errors	NM_020708	genbank	human	reviewed	54_36p	silent	SNP	1.000	T
FBLN1	2192	genome.wustl.edu	37	22	45958907	45958907	+	Intron	SNP	C	C	T			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr22:45958907C>T	ENST00000327858.6	+	15	1792				FBLN1_ENST00000402984.3_Missense_Mutation_p.R643C|FBLN1_ENST00000442170.2_Intron|FBLN1_ENST00000348697.2_Intron|FBLN1_ENST00000262722.7_Missense_Mutation_p.R605C	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1						embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GGTGGTTTTCCGCATGGGCCC	0.617																																																0			22											65.0	79.0	74.0					22																	45958907		2203	4300	6503	44337571	SO:0001627	intron_variant	2192				CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"""Fibulins"""	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.1698-11484C>T	22.37:g.45958907C>T			44337571	B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Missense_Mutation	SNP	HMMPfam_ANATO,HMMSmart_SM00104,PatternScan_ANAPHYLATOXIN_1,superfamily_EGF/Laminin,HMMSmart_SM00181,PatternScan_EGF_2,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,PatternScan_ASX_HYDROXYL	p.R605C	ENST00000327858.6	37	c.1813	CCDS14067.1	22	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770708	0.90108	.	.	ENSG00000077942	ENST00000402984;ENST00000262722	D;D	0.87179	-2.22;-2.09	4.86	4.86	0.63082	.	.	.	.	.	D	0.90508	0.7026	L	0.49126	1.545	0.80722	D	1	D;D	0.89917	1.0;1.0	P;P	0.59424	0.794;0.857	D	0.91588	0.5284	9	0.66056	D	0.02	.	17.9749	0.89124	0.0:1.0:0.0:0.0	.	643;605	B1AHL2;P23142-4	.;.	C	643;605	ENSP00000385521:R643C;ENSP00000262722:R605C	ENSP00000262722:R605C	R	+	1	0	FBLN1	44337571	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	7.266000	0.78452	2.240000	0.73641	0.313000	0.20887	CGC	-	NULL		0.617	FBLN1-001	KNOWN	basic|CCDS	protein_coding	FBLN1	protein_coding	OTTHUMT00000322287.1	C	NM_006486		44337571	+1	no_errors	NM_001996	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
SPTBN4	57731	genome.wustl.edu	37	19	41081355	41081355	+	Silent	SNP	G	G	C			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr19:41081355G>C	ENST00000352632.3	+	36	7661	c.7575G>C	c.(7573-7575)tcG>tcC	p.S2525S	SHKBP1_ENST00000291842.5_5'Flank|SPTBN4_ENST00000392025.1_Silent_p.S1268S|SPTBN4_ENST00000593816.1_3'UTR|SHKBP1_ENST00000600733.1_5'Flank|SPTBN4_ENST00000598249.1_Silent_p.S2525S			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2525	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TAGCTTCCTCGGTGGCGGAAC	0.582																																																0			19											34.0	29.0	31.0					19																	41081355		2203	4300	6503	45773195	SO:0001819	synonymous_variant	57731			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.7575G>C	19.37:g.41081355G>C			45773195	E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Silent	SNP	superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233	p.S2525	ENST00000352632.3	37	c.7575	CCDS12559.1	19																																																																																			-	superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233		0.582	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	protein_coding	OTTHUMT00000462559.2	G			45773195	+1	no_errors	NM_020971	genbank	human	reviewed	54_36p	silent	SNP	0.178	C
AMBRA1	55626	genome.wustl.edu	37	11	46567322	46567322	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr11:46567322C>A	ENST00000458649.2	-	5	801	c.383G>T	c.(382-384)gGc>gTc	p.G128V	AMBRA1_ENST00000533727.1_Missense_Mutation_p.G128V|AMBRA1_ENST00000528950.1_Missense_Mutation_p.G128V|AMBRA1_ENST00000298834.3_Missense_Mutation_p.G128V|AMBRA1_ENST00000314845.3_Missense_Mutation_p.G128V|AMBRA1_ENST00000534300.1_Missense_Mutation_p.G128V|AMBRA1_ENST00000426438.1_Missense_Mutation_p.G128V			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	128					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GCTTTCACTGCCACCCTGTGA	0.473																																																0			11											70.0	62.0	65.0					11																	46567322		2201	4299	6500	46523898	SO:0001583	missense	55626			AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.383G>T	11.37:g.46567322C>A	ENSP00000415327:p.Gly128Val		46523898	A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40,PatternScan_WD_REPEATS_1	p.G128V	ENST00000458649.2	37	c.383		11	.	.	.	.	.	.	.	.	.	.	C	22.1	4.241431	0.79912	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000314823;ENST00000458649;ENST00000528950	T;T;T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25;1.25;1.25	5.75	5.75	0.90469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.60958	0.2309	M	0.63843	1.955	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;1.0;0.999;1.0;0.999	T	0.61441	-0.7062	10	0.87932	D	0	.	19.9478	0.97189	0.0:1.0:0.0:0.0	.	128;128;128;128;128;128	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	V	128	ENSP00000318313:G128V;ENSP00000433372:G128V;ENSP00000431926:G128V;ENSP00000410899:G128V;ENSP00000298834:G128V;ENSP00000415327:G128V;ENSP00000433945:G128V	ENSP00000298834:G128V	G	-	2	0	AMBRA1	46523898	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.696000	0.84270	2.712000	0.92718	0.591000	0.81541	GGC	-	superfamily_WD40_like,HMMSmart_WD40		0.473	AMBRA1-005	KNOWN	basic	protein_coding	AMBRA1	protein_coding	OTTHUMT00000390103.1	C	NM_017749		46523898	-1	no_errors	NM_017749	genbank	human	validated	54_36p	missense	SNP	1.000	A
COL2A1	1280	genome.wustl.edu	37	12	48393867	48393867	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr12:48393867C>T	ENST00000380518.3	-	2	291	c.127G>A	c.(127-129)Gat>Aat	p.D43N	COL2A1_ENST00000337299.6_Intron	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	43	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	ACATCCTTATCATTATACCTC	0.587																																																0			12											40.0	43.0	42.0					12																	48393867		2081	4217	6298	46680134	SO:0001583	missense	1280			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.127G>A	12.37:g.48393867C>T	ENSP00000369889:p.Asp43Asn		46680134	A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,HMMPfam_Collagen,HMMSmart_SM00038,HMMPfam_COLFI	p.D43N	ENST00000380518.3	37	c.127	CCDS41778.1	12	.	.	.	.	.	.	.	.	.	.	C	14.60	2.583723	0.46006	.	.	ENSG00000139219	ENST00000380518	T	0.64618	-0.11	4.66	4.66	0.58398	von Willebrand factor, type C (3);	0.000000	0.85682	D	0.000000	T	0.53916	0.1826	L	0.55481	1.735	0.80722	D	1	B	0.12630	0.006	B	0.13407	0.009	T	0.52449	-0.8574	10	0.02654	T	1	.	16.8676	0.86033	0.0:1.0:0.0:0.0	.	43	P02458	CO2A1_HUMAN	N	43	ENSP00000369889:D43N	ENSP00000369889:D43N	D	-	1	0	COL2A1	46680134	0.943000	0.32029	1.000000	0.80357	0.998000	0.95712	2.095000	0.41729	2.584000	0.87258	0.563000	0.77884	GAT	-	HMMPfam_VWC,HMMSmart_SM00214		0.587	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL2A1	protein_coding	OTTHUMT00000313810.2	C	NM_001844		46680134	-1	no_errors	NM_001844	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
FNDC3A	22862	genome.wustl.edu	37	13	49781277	49781277	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr13:49781277C>T	ENST00000492622.2	+	26	3648	c.3343C>T	c.(3343-3345)Cgc>Tgc	p.R1115C	FNDC3A_ENST00000398316.3_Missense_Mutation_p.R1059C|FNDC3A_ENST00000541916.1_Missense_Mutation_p.R1115C	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	1115	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CTGTGAATATCGCTTCCGTGT	0.488																																																0			13											106.0	99.0	101.0					13																	49781277		2203	4300	6503	48679278	SO:0001583	missense	22862			AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.3343C>T	13.37:g.49781277C>T	ENSP00000417257:p.Arg1115Cys		48679278	B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	HMMSmart_SM00060,HMMPfam_fn3,superfamily_Fibronectin type III	p.R1115C	ENST00000492622.2	37	c.3343	CCDS41886.1	13	.	.	.	.	.	.	.	.	.	.	C	12.30	1.896069	0.33442	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.39592	1.07;1.07;1.08	5.23	5.23	0.72850	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000012	T	0.52141	0.1716	M	0.68952	2.095	0.80722	D	1	D;D	0.60575	0.988;0.98	P;B	0.50825	0.651;0.348	T	0.58250	-0.7669	10	0.87932	D	0	-16.485	14.3459	0.66662	0.1484:0.8516:0.0:0.0	.	1059;1115	Q9Y2H6-2;Q9Y2H6	.;FND3A_HUMAN	C	1115;1051;1115;1059	ENSP00000417257:R1115C;ENSP00000441831:R1115C;ENSP00000381362:R1059C	ENSP00000338579:R1051C	R	+	1	0	FNDC3A	48679278	1.000000	0.71417	1.000000	0.80357	0.024000	0.10985	5.769000	0.68865	2.423000	0.82170	0.650000	0.86243	CGC	-	superfamily_Fibronectin type III,HMMSmart_SM00060		0.488	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC3A	protein_coding	OTTHUMT00000354845.2	C	NM_014923		48679278	+1	no_errors	NM_001079673	genbank	human	validated	54_36p	missense	SNP	1.000	T
DGKK	139189	genome.wustl.edu	37	X	50213220	50213220	+	RNA	SNP	G	G	T			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chrX:50213220G>T	ENST00000376025.2	-	0	517							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					Ttctggggtcggctctggggc	0.637																																																0			X											28.0	31.0	30.0					X																	50213220		1883	4092	5975	50229960			139189			AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50213220G>T			50229960	B2RP91	Missense_Mutation	SNP	superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,HMMPfam_DAGK_cat,HMMSmart_SM00046,HMMPfam_DAGK_acc,HMMSmart_SM00045	p.P153Q	ENST00000376025.2	37	c.458		X																																																																																			-	NULL		0.637	DGKK-001	KNOWN	basic	processed_transcript	DGKK	processed_transcript	OTTHUMT00000368187.1	G	NM_001013742		50229960	-1	no_errors	ENST00000376025	ensembl	human	known	54_36p	missense	SNP	0.002	T
SIGLEC8	27181	genome.wustl.edu	37	19	51961478	51961478	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr19:51961478C>A	ENST00000321424.3	-	1	230	c.164G>T	c.(163-165)gGc>gTc	p.G55V	SIGLEC8_ENST00000597352.1_5'Flank|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.G55V|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.G55V	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	55	Ig-like V-type.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GTCAGTCCAGCCATCCTGGGG	0.577																																																0			19											132.0	113.0	120.0					19																	51961478		2203	4300	6503	56653290	SO:0001583	missense	27181			AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.164G>T	19.37:g.51961478C>A	ENSP00000321077:p.Gly55Val		56653290	Q7Z728	Missense_Mutation	SNP	superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMPfam_C2-set_2,HMMSmart_SM00408,HMMPfam_ig	p.G55V	ENST00000321424.3	37	c.164	CCDS33086.1	19	.	.	.	.	.	.	.	.	.	.	.	5.916	0.352988	0.11182	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.21543	2.0;2.0;2.0	2.14	-4.28	0.03732	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	3.595810	0.00799	N	0.001412	T	0.22666	0.0547	M	0.82630	2.6	0.09310	N	1	B;B;B	0.33103	0.059;0.397;0.205	B;B;B	0.32022	0.114;0.122;0.139	T	0.31447	-0.9943	10	0.19147	T	0.46	.	0.6223	0.00780	0.2437:0.2808:0.1222:0.3533	.	55;55;55	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	V	55	ENSP00000389142:G55V;ENSP00000321077:G55V;ENSP00000339448:G55V	ENSP00000321077:G55V	G	-	2	0	SIGLEC8	56653290	0.000000	0.05858	0.000000	0.03702	0.143000	0.21401	-5.025000	0.00159	-3.512000	0.00149	-1.332000	0.01269	GGC	-	superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409		0.577	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC8	protein_coding	OTTHUMT00000463648.2	C	NM_014442		56653290	-1	no_errors	NM_014442	genbank	human	validated	54_36p	missense	SNP	0.000	A
BSCL2	26580	genome.wustl.edu	37	11	62472855	62472855	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr11:62472855C>A	ENST00000403550.1	-	2	553	c.130G>T	c.(130-132)Gtg>Ttg	p.V44L	BSCL2_ENST00000360796.5_Missense_Mutation_p.V108L|BSCL2_ENST00000407022.3_Missense_Mutation_p.V44L|BSCL2_ENST00000433053.1_Missense_Mutation_p.V108L|BSCL2_ENST00000421906.1_Missense_Mutation_p.V44L|BSCL2_ENST00000537604.1_Intron|BSCL2_ENST00000278893.7_Missense_Mutation_p.V44L|BSCL2_ENST00000405837.1_Missense_Mutation_p.V108L|GNG3_ENST00000294117.5_5'Flank|HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	44					cell death (GO:0008219)|fat cell differentiation (GO:0045444)|lipid catabolic process (GO:0016042)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of lipid catabolic process (GO:0050995)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						AAGACAGACACCCAGAGCAAA	0.572																																																0			11											59.0	54.0	55.0					11																	62472855		2202	4299	6501	62229431	SO:0001583	missense	26580				CCDS8031.1, CCDS44627.1, CCDS55769.1	11q13	2014-09-17	2009-07-30		ENSG00000168000	ENSG00000168000			15832	protein-coding gene	gene with protein product		606158	"""spastic paraplegia 17 (Silver syndrome)"""	GNG3LG, SPG17		11479539, 14981520	Standard	NM_001122955		Approved		uc001nur.4	Q96G97	OTTHUMG00000150624	ENST00000403550.1:c.130G>T	11.37:g.62472855C>A	ENSP00000385561:p.Val44Leu		62229431	G3XAE4|Q567S1|Q96SV1|Q9BSQ0	Missense_Mutation	SNP	HMMPfam_Seipin	p.V44L	ENST00000403550.1	37	c.130	CCDS8031.1	11	.	.	.	.	.	.	.	.	.	.	C	25.6	4.650769	0.87958	.	.	ENSG00000168000	ENST00000405837;ENST00000433053;ENST00000278893;ENST00000360796;ENST00000403550;ENST00000407022;ENST00000421906;ENST00000448568;ENST00000524862;ENST00000533982;ENST00000532818	D;D;D;D;D;D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54;-2.54;-2.54;-2.54;-2.54;-2.54;-2.54	5.57	5.57	0.84162	.	0.000000	0.64402	U	0.000008	D	0.91119	0.7204	L	0.45352	1.415	0.58432	D	0.999998	P;P;P;D	0.63880	0.913;0.906;0.811;0.993	P;P;B;D	0.63381	0.623;0.617;0.383;0.914	D	0.88849	0.3318	10	0.26408	T	0.33	-21.0693	17.047	0.86507	0.0:1.0:0.0:0.0	.	44;44;108;44	Q96G97-3;Q53EN3;G3XAE4;Q96G97	.;.;.;BSCL2_HUMAN	L	108;108;44;108;44;44;44;44;108;44;108	ENSP00000385332:V108L;ENSP00000414002:V108L;ENSP00000278893:V44L;ENSP00000354032:V108L;ENSP00000385561:V44L;ENSP00000384080:V44L;ENSP00000413209:V44L;ENSP00000413340:V44L;ENSP00000433888:V108L;ENSP00000434149:V44L	ENSP00000278893:V44L	V	-	1	0	BSCL2	62229431	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	3.096000	0.50243	2.642000	0.89623	0.462000	0.41574	GTG	-	HMMPfam_Seipin		0.572	BSCL2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	BSCL2	protein_coding	OTTHUMT00000319185.1	C	NM_032667		62229431	-1	no_errors	NM_032667	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
TRIM23	373	genome.wustl.edu	37	5	64892358	64892358	+	Splice_Site	SNP	C	C	A			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr5:64892358C>A	ENST00000231524.9	-	9	1681	c.1310G>T	c.(1309-1311)gGt>gTt	p.G437V	TRIM23_ENST00000274327.7_Splice_Site_p.G437V|TRIM23_ENST00000381018.3_Splice_Site_p.G437V	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	437	ARF-like.				GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		CACGTTAAAACCTGTTTTAAA	0.284																																																0			5											66.0	66.0	66.0					5																	64892358		2201	4290	6491	64928114	SO:0001630	splice_region_variant	373			L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	660	protein-coding gene	gene with protein product		601747	"""ADP-ribosylation factor domain protein 1, 64kDa"", ""tripartite motif-containing 23"""	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.1310-1G>T	5.37:g.64892358C>A			64928114	Q9BZY4|Q9BZY5	Missense_Mutation	SNP	superfamily_RING/U-box,HMMPfam_zf-C3HC4,HMMSmart_SM00184,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_SM00336,HMMSmart_SM00502,HMMSmart_SM00177,HMMSmart_SM00178,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,PatternScan_ARF	p.G437V	ENST00000231524.9	37	c.1310	CCDS3987.1	5	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421175	0.83559	.	.	ENSG00000113595	ENST00000231524;ENST00000381018;ENST00000274327	D;D;D	0.86497	-2.13;-2.13;-2.13	5.72	5.72	0.89469	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.96479	0.8851	H	0.97962	4.115	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97570	1.0104	10	0.87932	D	0	.	19.8737	0.96861	0.0:1.0:0.0:0.0	.	437;437;437	P36406;P36406-2;P36406-3	TRI23_HUMAN;.;.	V	437	ENSP00000231524:G437V;ENSP00000370406:G437V;ENSP00000274327:G437V	ENSP00000231524:G437V	G	-	2	0	TRIM23	64928114	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	7.746000	0.85057	2.705000	0.92388	0.484000	0.47621	GGT	-	HMMSmart_SM00177,HMMSmart_SM00178,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175		0.284	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM23	protein_coding	OTTHUMT00000215058.2	C	NM_001656	Missense_Mutation	64928114	-1	no_errors	NM_001656	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
SPATA31A7	26165	genome.wustl.edu	37	9	65506233	65506233	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr9:65506233G>A	ENST00000355045.2	-	4	1355	c.1327C>T	c.(1327-1329)Cct>Tct	p.P443S	SPATA31A7_ENST00000491812.2_5'Flank	NM_015667.2	NP_056482.2	Q8IWB4	S31A7_HUMAN	SPATA31 subfamily A, member 7	443					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AAGAAAGGAGGAGACTGTAAA	0.517																																																0			9											1.0	1.0	1.0					9																	65506233		28	55	83	65246053	SO:0001583	missense	26165				CCDS75838.1	9q12	2014-04-11	2012-10-12	2012-10-12	ENSG00000234734	ENSG00000276040			32007	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A7"""	FAM75A7		20850414	Standard	NM_015667		Approved	OTTHUMG00000013196		Q8IWB4	OTTHUMG00000188536	ENST00000355045.2:c.1327C>T	9.37:g.65506233G>A	ENSP00000347153:p.Pro443Ser		65246053	Q5TZK4|Q9Y4Q5	Missense_Mutation	SNP	NULL	p.P443S	ENST00000355045.2	37	c.1327	CCDS43825.1	9	.	.	.	.	.	.	.	.	.	.	G	11.65	1.700795	0.30142	.	.	ENSG00000234734	ENST00000355045	T	0.10099	2.91	1.58	-0.582	0.11709	.	0.771576	0.11179	N	0.591145	T	0.10852	0.0265	L	0.32530	0.975	0.09310	N	1	P	0.49635	0.926	P	0.56163	0.793	T	0.17837	-1.0356	10	0.09590	T	0.72	-5.636	2.7231	0.05206	0.2134:0.3089:0.4777:0.0	.	443	Q8IWB4	F75A7_HUMAN	S	443	ENSP00000347153:P443S	ENSP00000347153:P443S	P	-	1	0	FAM75A7	65246053	0.024000	0.19004	0.001000	0.08648	0.083000	0.17756	0.321000	0.19558	-0.165000	0.10908	0.162000	0.16502	CCT	-	NULL		0.517	SPATA31A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM75A7	protein_coding	OTTHUMT00000036952.1	G	NM_015667		65246053	-1	no_errors	NM_015667	genbank	human	validated	54_36p	missense	SNP	0.003	A
DNAJC6	9829	genome.wustl.edu	37	1	65874342	65874342	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr1:65874342C>A	ENST00000395325.3	+	17	2496	c.2339C>A	c.(2338-2340)gCt>gAt	p.A780D	DNAJC6_ENST00000371069.4_Missense_Mutation_p.A837D|DNAJC6_ENST00000263441.7_Missense_Mutation_p.A767D	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	780					cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						CAAAAAGCAGCTGATTTTGAA	0.383																																																0			1											84.0	89.0	87.0					1																	65874342		2203	4300	6503	65646930	SO:0001583	missense	9829			AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"""Heat shock proteins / DNAJ (HSP40)"""	15469	protein-coding gene	gene with protein product	"""auxilin"""	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.2339C>A	1.37:g.65874342C>A	ENSP00000378735:p.Ala780Asp		65646930	B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Missense_Mutation	SNP	superfamily_(Phosphotyrosine protein) phosphatases II,HMMPfam_PTEN_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_Chaperone J-domain,HMMSmart_SM00271,HMMPfam_DnaJ	p.A780D	ENST00000395325.3	37	c.2339	CCDS30739.1	1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.162245	0.38217	.	.	ENSG00000116675	ENST00000263441;ENST00000395325;ENST00000371069	T;T;T	0.21932	1.98;1.98;1.98	5.37	5.37	0.77165	Heat shock protein DnaJ, N-terminal (1);	0.053676	0.64402	D	0.000001	T	0.06096	0.0158	L	0.27053	0.805	0.58432	D	0.999999	B;B	0.12013	0.005;0.001	B;B	0.09377	0.004;0.002	T	0.12604	-1.0541	10	0.09084	T	0.74	.	14.1791	0.65562	0.1494:0.8505:0.0:0.0	.	837;780	O75061-2;O75061	.;AUXI_HUMAN	D	767;780;837	ENSP00000263441:A767D;ENSP00000378735:A780D;ENSP00000360108:A837D	ENSP00000263441:A767D	A	+	2	0	DNAJC6	65646930	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.286000	0.58995	2.793000	0.96121	0.563000	0.77884	GCT	-	NULL		0.383	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	DNAJC6	protein_coding	OTTHUMT00000025134.1	C			65646930	+1	no_errors	NM_014787	genbank	human	validated	54_36p	missense	SNP	1.000	A
FAM219B	57184	genome.wustl.edu	37	15	75195002	75195002	+	Nonsense_Mutation	SNP	G	G	T			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr15:75195002G>T	ENST00000357635.5	-	5	875	c.555C>A	c.(553-555)tgC>tgA	p.C185*	FAM219B_ENST00000563706.1_5'Flank|CTD-2235H24.2_ENST00000564692.1_RNA|FAM219B_ENST00000565772.1_Nonsense_Mutation_p.C99*|FAM219B_ENST00000563119.1_Nonsense_Mutation_p.C185*	NM_020447.3	NP_065180.1	Q5XKK7	F219B_HUMAN	family with sequence similarity 219, member B	185																	GACAGCACCAGCAGCAGGAGC	0.567																																																0			15											122.0	109.0	114.0					15																	75195002		2197	4295	6492	72982055	SO:0001587	stop_gained	57184			AK000005	CCDS32295.1	15q23	2012-03-06	2012-03-06	2012-03-06	ENSG00000178761	ENSG00000178761			24695	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 17"""	C15orf17		11214971	Standard	NM_020447		Approved	FLJ00005	uc002azh.4	Q5XKK7	OTTHUMG00000172715	ENST00000357635.5:c.555C>A	15.37:g.75195002G>T	ENSP00000350260:p.Cys185*		72982055	A8K4Q5|B4DK57|Q9NXY0	Nonsense_Mutation	SNP	NULL	p.C185*	ENST00000357635.5	37	c.555	CCDS32295.1	15	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587496	0.66105	.	.	ENSG00000178761	ENST00000357635	.	.	.	5.24	4.32	0.51571	.	0.099749	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	2.7496	10.6619	0.45706	0.0878:0.0:0.9122:0.0	.	.	.	.	X	185	.	ENSP00000350260:C185X	C	-	3	2	C15orf17	72982055	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.030000	0.49720	2.467000	0.83353	0.650000	0.86243	TGC	-	NULL		0.567	FAM219B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf17	protein_coding	OTTHUMT00000420165.1	G	NM_020447		72982055	-1	no_errors	NM_020447	genbank	human	validated	54_36p	nonsense	SNP	1.000	T
ADAT1	23536	genome.wustl.edu	37	16	75654591	75654591	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr16:75654591G>A	ENST00000307921.3	-	3	252	c.107C>T	c.(106-108)gCg>gTg	p.A36V		NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	36					tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|RNA binding (GO:0003723)|tRNA-specific adenosine deaminase activity (GO:0008251)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						CTTCACCACCGCTGCCAATAA	0.527																																																0			16											106.0	102.0	104.0					16																	75654591		2198	4300	6498	74212092	SO:0001583	missense	23536			AF125188	CCDS10922.1	16q23	2008-02-05			ENSG00000065457	ENSG00000065457			228	protein-coding gene	gene with protein product		604230				10430867	Standard	NM_012091		Approved		uc002feo.2	Q9BUB4	OTTHUMG00000137611	ENST00000307921.3:c.107C>T	16.37:g.75654591G>A	ENSP00000310015:p.Ala36Val		74212092	Q9NVB7|Q9UNG3	Missense_Mutation	SNP	HMMSmart_SM00552,HMMPfam_A_deamin	p.A36V	ENST00000307921.3	37	c.107	CCDS10922.1	16	.	.	.	.	.	.	.	.	.	.	G	21.1	4.100500	0.76983	.	.	ENSG00000065457	ENST00000307921;ENST00000542252	T	0.18502	2.21	5.59	4.64	0.57946	Adenosine deaminase/editase (1);	0.000000	0.85682	D	0.000000	T	0.44603	0.1301	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.49799	-0.8901	10	0.72032	D	0.01	.	13.0722	0.59068	0.0775:0.0:0.9225:0.0	.	36	Q9BUB4	ADAT1_HUMAN	V	36;7	ENSP00000310015:A36V	ENSP00000310015:A36V	A	-	2	0	ADAT1	74212092	1.000000	0.71417	0.492000	0.27490	0.326000	0.28443	6.484000	0.73621	1.383000	0.46405	0.561000	0.74099	GCG	-	HMMSmart_SM00552		0.527	ADAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAT1	protein_coding	OTTHUMT00000269027.1	G	NM_012091		74212092	-1	no_errors	NM_012091	genbank	human	reviewed	54_36p	missense	SNP	0.994	A
IMPG1	3617	genome.wustl.edu	37	6	76751728	76751728	+	Silent	SNP	G	G	A			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr6:76751728G>A	ENST00000369950.3	-	2	372	c.183C>T	c.(181-183)ttC>ttT	p.F61F	IMPG1_ENST00000369963.3_Intron	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1									p.F61F(1)|p.F61L(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TTGCCAAATCGAATATTCGTC	0.368																																					Pancreas(37;839 1141 2599 26037)											2	Substitution - Missense(1)|Substitution - coding silent(1)	lung(1)|endometrium(1)	6											184.0	173.0	177.0					6																	76751728		2203	4300	6503	76808448	SO:0001819	synonymous_variant	3617			AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.183C>T	6.37:g.76751728G>A			76808448		Silent	SNP	superfamily_SSF82671,HMMPfam_SEA,HMMSmart_SEA	p.F61	ENST00000369950.3	37	c.183	CCDS4985.1	6																																																																																			-	NULL		0.368	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG1	protein_coding	OTTHUMT00000041288.1	G	NM_001563		76808448	-1	no_errors	NM_001563	genbank	human	provisional	54_36p	silent	SNP	0.988	A
PLCG2	5336	genome.wustl.edu	37	16	81942086	81942086	+	Silent	SNP	G	G	A			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr16:81942086G>A	ENST00000359376.3	+	17	1837	c.1623G>A	c.(1621-1623)acG>acA	p.T541T		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	541	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.		T -> A (in dbSNP:rs11548657).		B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						AGAAGAGGACGAGTGCCGAGA	0.552																																																0			16											77.0	80.0	79.0					16																	81942086		2004	4172	6176	80499587	SO:0001819	synonymous_variant	5336				CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.1623G>A	16.37:g.81942086G>A			80499587	D3DUL3|Q3ZTS2|Q59H45|Q969T5	Silent	SNP	superfamily_SSF50729,HMMSmart_PH,HMMPfam_PH,superfamily_SSF47473,HMMSmart_PLCXc,HMMPfam_PI-PLC-X,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2,superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3,HMMPfam_PI-PLC-Y,HMMSmart_PLCYc,superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2	p.T541	ENST00000359376.3	37	c.1623	CCDS42204.1	16																																																																																			-	superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_SSF50729,superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2		0.552	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCG2	protein_coding	OTTHUMT00000432429.1	G			80499587	+1	no_errors	NM_002661	genbank	human	validated	54_36p	silent	SNP	0.718	A
CA1	759	genome.wustl.edu	37	8	86249260	86249260	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr8:86249260T>C	ENST00000523953.1	-	5	1314	c.268A>G	c.(268-270)Agg>Ggg	p.R90G	CA1_ENST00000522389.1_Intron|CA1_ENST00000432364.2_Missense_Mutation_p.R90G|CA1_ENST00000518341.1_5'UTR|CA1_ENST00000523022.1_Missense_Mutation_p.R90G|CA1_ENST00000256119.5_Missense_Mutation_p.R90G|CA1_ENST00000542576.1_Missense_Mutation_p.R90G|CA1_ENST00000431316.1_Missense_Mutation_p.R90G			P00915	CAH1_HUMAN	carbonic anhydrase I	90					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methocarbamol(DB00423)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	TGAAAGAGCCTGTAGCTGTCA	0.423																																																0			8											107.0	103.0	105.0					8																	86249260		2203	4300	6503	86436512	SO:0001583	missense	759			M33987	CCDS6237.1	8q21.2	2006-03-10				ENSG00000133742	4.2.1.1	"""Carbonic anhydrases"""	1368	protein-coding gene	gene with protein product		114800				1916821	Standard	NM_001164830		Approved	Car1	uc003ydi.3	P00915		ENST00000523953.1:c.268A>G	8.37:g.86249260T>C	ENSP00000430656:p.Arg90Gly		86436512		Missense_Mutation	SNP	superfamily_Euk_COanhd,HMMPfam_Carb_anhydrase,PatternScan_ALPHA_CA_1	p.R90G	ENST00000523953.1	37	c.268	CCDS6237.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.50|15.50	2.852141|2.852141	0.51270|0.51270	.|.	.|.	ENSG00000133742|ENSG00000133742	ENST00000521679|ENST00000523953;ENST00000256119;ENST00000431316;ENST00000542576;ENST00000432364;ENST00000523022;ENST00000524324;ENST00000517618;ENST00000517590;ENST00000521846;ENST00000522579;ENST00000522814;ENST00000522662;ENST00000523858	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.71103	.|-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54	5.44|5.44	1.66|1.66	0.24008|0.24008	.|Carbonic anhydrase, alpha-class, catalytic domain (4);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.87269|0.87269	0.6135|0.6135	H|H	0.94264|0.94264	3.515|3.515	0.44736|0.44736	D|D	0.997731|0.997731	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.89037|0.89037	0.3446|0.3446	5|10	.|0.87932	.|D	.|0	-20.6621|-20.6621	14.131|14.131	0.65253|0.65253	0.0:0.0:0.6344:0.3656|0.0:0.0:0.6344:0.3656	.|.	.|90	.|P00915	.|CAH1_HUMAN	R|G	26|90;90;90;90;90;90;24;90;90;90;90;90;90;90	.|ENSP00000430656:R90G;ENSP00000256119:R90G;ENSP00000392338:R90G;ENSP00000443517:R90G;ENSP00000401551:R90G;ENSP00000429798:R90G;ENSP00000428923:R24G;ENSP00000430861:R90G;ENSP00000429843:R90G;ENSP00000430471:R90G;ENSP00000427852:R90G;ENSP00000430737:R90G;ENSP00000430372:R90G;ENSP00000430975:R90G	.|ENSP00000256119:R90G	Q|R	-|-	2|1	0|2	CA1|CA1	86436512|86436512	0.010000|0.010000	0.17322|0.17322	0.084000|0.084000	0.20598|0.20598	0.005000|0.005000	0.04900|0.04900	0.155000|0.155000	0.16362|0.16362	0.032000|0.032000	0.15435|0.15435	-0.340000|-0.340000	0.08031|0.08031	CAG|AGG	-	superfamily_Euk_COanhd,HMMPfam_Carb_anhydrase		0.423	CA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA1	protein_coding	OTTHUMT00000381067.1	T	NM_001738		86436512	-1	no_errors	NM_001738	genbank	human	validated	54_36p	missense	SNP	0.434	C
CA5A	763	genome.wustl.edu	37	16	87921742	87921742	+	Missense_Mutation	SNP	C	C	T	rs368142668		TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr16:87921742C>T	ENST00000309893.2	-	7	976	c.911G>A	c.(910-912)aGg>aAg	p.R304K		NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN	carbonic anhydrase VA, mitochondrial	304					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)	Brinzolamide(DB01194)|Zonisamide(DB00909)	TCTCTAGGACCTTGTGCCCTC	0.473																																																0			16						C	LYS/ARG	1,4395	2.1+/-5.4	0,1,2197	96.0	83.0	88.0		911	1.4	0.0	16		88	0,8600		0,0,4300	no	missense	CA5A	NM_001739.1	26	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	benign	304/306	87921742	1,12995	2198	4300	6498	86479243	SO:0001583	missense	763			L19297	CCDS10965.1	16q24.2	2012-08-21			ENSG00000174990	ENSG00000174990	4.2.1.1	"""Carbonic anhydrases"""	1377	protein-coding gene	gene with protein product		114761		CA5		8356065, 7490083	Standard	NM_001739		Approved	CAV, CAVA	uc002fkn.1	P35218	OTTHUMG00000137677	ENST00000309893.2:c.911G>A	16.37:g.87921742C>T	ENSP00000309649:p.Arg304Lys		86479243	B2RPF2	Missense_Mutation	SNP	HMMPfam_Carb_anhydrase,superfamily_Carbonic anhydrase,PatternScan_ALPHA_CA_1	p.R304K	ENST00000309893.2	37	c.911	CCDS10965.1	16	.	.	.	.	.	.	.	.	.	.	c	10.78	1.446245	0.25987	2.27E-4	0.0	ENSG00000174990	ENST00000309893	T	0.66638	-0.22	3.51	1.44	0.22558	.	1.423260	0.05564	U	0.569872	T	0.54046	0.1834	L	0.40543	1.245	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.31833	-0.9929	10	0.20046	T	0.44	-0.0654	5.2795	0.15668	0.0:0.7239:0.0:0.2761	.	304	P35218	CAH5A_HUMAN	K	304	ENSP00000309649:R304K	ENSP00000309649:R304K	R	-	2	0	CA5A	86479243	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	0.417000	0.21214	0.729000	0.32403	0.313000	0.20887	AGG	-	NULL		0.473	CA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA5A	protein_coding	OTTHUMT00000269164.1	C	NM_001739		86479243	-1	no_errors	NM_001739	genbank	human	reviewed	54_36p	missense	SNP	0.000	T
CLCA3P	9629	genome.wustl.edu	37	1	87104605	87104605	+	RNA	SNP	C	C	T			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr1:87104605C>T	ENST00000456587.1	-	0	294				CLCA3P_ENST00000466454.1_RNA																							CTGTATAGCACGACCATTCAG	0.398																																																0			1											107.0	98.0	101.0					1																	87104605		2203	4300	6503	86877193			9629																															1.37:g.87104605C>T			86877193		Nonsense_Mutation	SNP	HMMPfam_CLCA_N	p.R208*	ENST00000456587.1	37	c.622		1																																																																																			-	HMMPfam_CLCA_N		0.398	RP4-651E10.4-001	KNOWN	non_canonical_TEC|basic	antisense	CLCA3	antisense	OTTHUMT00000028263.1	C			86877193	+1	no_errors	ENST00000284054	ensembl	human	known	54_36p	nonsense	SNP	0.001	T
GALNT4	8693	genome.wustl.edu	37	12	89917762	89917762	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr12:89917762A>T	ENST00000529983.2	-	1	821	c.565T>A	c.(565-567)Tac>Aac	p.Y189N	POC1B_ENST00000549035.1_Intron|POC1B_ENST00000541909.1_Intron|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000313546.3_Intron|POC1B-GALNT4_ENST00000548729.1_Missense_Mutation_p.Y186N|POC1B-GALNT4_ENST00000547474.1_Intron|GALNT4_ENST00000413530.1_Intron|POC1B_ENST00000393179.4_Intron|RP11-734K2.4_ENST00000605233.1_RNA	NM_003774.4	NP_003765.2	Q8N4A0	GALT4_HUMAN	polypeptide N-acetylgalactosaminyltransferase 4	189	Catalytic subdomain A.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						TTGCTGATGTAAGTTTCAAGT	0.453											OREG0022018	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			12											85.0	82.0	83.0					12																	89917762		1912	4121	6033	88441893	SO:0001583	missense	8693			Y08564	CCDS53817.1	12q21.33	2014-03-13	2014-03-13		ENSG00000257594	ENSG00000257594	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4126	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 4"""	603565	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4)"""			9804815	Standard	NM_003774		Approved	GalNAc-T4	uc001tbd.3	Q8N4A0	OTTHUMG00000166292	ENST00000529983.2:c.565T>A	12.37:g.89917762A>T	ENSP00000436604:p.Tyr189Asn	1271	88441893	B2R775|B4DMX6|O00208	Missense_Mutation	SNP	superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glycos_transf_2,superfamily_Ricin B-like lectins,HMMPfam_Ricin_B_lectin,HMMSmart_SM00458	p.Y189N	ENST00000529983.2	37	c.565	CCDS53817.1	12	.	.	.	.	.	.	.	.	.	.	A	15.80	2.941293	0.53079	.	.	ENSG00000259075;ENSG00000257594	ENST00000548729;ENST00000529983	T;T	0.65364	-0.15;-0.15	5.88	5.88	0.94601	Glycosyl transferase, family 2 (1);	.	.	.	.	D	0.85936	0.5813	H	0.96604	3.85	0.58432	D	0.999998	D;D	0.63880	0.992;0.993	D;D	0.72982	0.948;0.979	D	0.90538	0.4500	9	0.87932	D	0	.	15.4562	0.75314	1.0:0.0:0.0:0.0	.	186;189	F8VUJ3;Q8N4A0	.;GALT4_HUMAN	N	186;189	ENSP00000447852:Y186N;ENSP00000436604:Y189N	ENSP00000436604:Y189N	Y	-	1	0	GALNT4;RP11-1109F11.4	88441893	1.000000	0.71417	0.882000	0.34594	0.199000	0.23934	9.225000	0.95219	2.246000	0.74042	0.533000	0.62120	TAC	-	superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glycos_transf_2		0.453	GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT4	protein_coding	OTTHUMT00000388973.2	A	NM_003774		88441893	-1	no_errors	NM_003774	genbank	human	reviewed	54_36p	missense	SNP	0.994	T
AMY2B	280	genome.wustl.edu	37	1	104122081	104122081	+	Nonsense_Mutation	SNP	G	G	T	rs201325836		TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr1:104122081G>T	ENST00000361355.4	+	12	2111	c.1495G>T	c.(1495-1497)Gag>Tag	p.E499*	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	499					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TAACTCTGCTGAGGATCCATT	0.308																																																0			1											166.0	174.0	171.0					1																	104122081		2203	4300	6503	103923604	SO:0001587	stop_gained	280			M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"""amylase, alpha 2B; pancreatic"""	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.1495G>T	1.37:g.104122081G>T	ENSP00000354610:p.Glu499*		103923604	B3KTI1|B3KXB7|D3DT76|Q9UBH3	Nonsense_Mutation	SNP	superfamily_(Trans)glycosidases,HMMPfam_Alpha-amylase,HMMSmart_SM00642,superfamily_Glycosyl hydrolase domain,HMMSmart_SM00632,HMMPfam_Alpha-amylase_C	p.E499*	ENST00000361355.4	37	c.1495	CCDS782.1	1	.	.	.	.	.	.	.	.	.	.	G	43	9.888632	0.99288	.	.	ENSG00000240038	ENST00000361355	.	.	.	4.14	4.14	0.48551	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	16.3844	0.83500	0.0:0.0:1.0:0.0	.	.	.	.	X	499	.	ENSP00000354610:E499X	E	+	1	0	AMY2B	103923604	1.000000	0.71417	0.988000	0.46212	0.915000	0.54546	7.993000	0.88291	2.021000	0.59480	0.585000	0.79938	GAG	-	superfamily_Glycosyl hydrolase domain,HMMSmart_SM00632,HMMPfam_Alpha-amylase_C		0.308	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY2B	protein_coding	OTTHUMT00000030318.1	G	NM_020978		103923604	+1	no_errors	NM_020978	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	T
CBLL1	79872	genome.wustl.edu	37	7	107398678	107398678	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr7:107398678G>T	ENST00000440859.3	+	6	998	c.531G>T	c.(529-531)ttG>ttT	p.L177F	CBLL1_ENST00000415884.2_3'UTR|CBLL1_ENST00000222597.2_Missense_Mutation_p.L176F	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	177	HYB domain. {ECO:0000250}.				negative regulation of cell adhesion (GO:0007162)|positive regulation of cell migration (GO:0030335)|positive regulation of endocytosis (GO:0045807)|protein ubiquitination (GO:0016567)|single organismal cell-cell adhesion (GO:0016337)	ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						GAACATATTTGTCTCAGAGAG	0.443																																																0			7											140.0	123.0	129.0					7																	107398678		2203	4300	6503	107185914	SO:0001583	missense	79872			AK026762	CCDS5747.1, CCDS64754.1	7q22.3	2013-07-09	2013-07-09		ENSG00000105879	ENSG00000105879		"""RING-type (C3HC4) zinc fingers"""	21225	protein-coding gene	gene with protein product	"""Casitas B-lineage lymphoma-like"""	606872	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1"""			11836526, 11944035	Standard	NM_001284291		Approved	HAKAI, FLJ23109, RNF188	uc003veq.3	Q75N03	OTTHUMG00000154809	ENST00000440859.3:c.531G>T	7.37:g.107398678G>T	ENSP00000401277:p.Leu177Phe		107185914	B7ZM03|Q8TAJ4|Q9H5S6	Missense_Mutation	SNP	PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57850,HMMSmart_RING,PatternScan_ZF_RING_1,HMMSmart_ZnF_C2H2	p.L177F	ENST00000440859.3	37	c.531	CCDS5747.1	7	.	.	.	.	.	.	.	.	.	.	G	14.60	2.584116	0.46110	.	.	ENSG00000105879	ENST00000440859;ENST00000535365;ENST00000222597;ENST00000420796;ENST00000417616	T;T;T	0.63744	0.25;-0.06;0.19	5.14	1.33	0.21861	Zinc finger, C2H2-like (1);	0.000000	0.64402	D	0.000001	T	0.75012	0.3792	M	0.79011	2.435	0.58432	D	0.999996	D;D	0.89917	1.0;0.997	D;D	0.85130	0.997;0.931	T	0.73202	-0.4057	10	0.87932	D	0	-1.4629	8.5727	0.33578	0.4596:0.0:0.5404:0.0	.	176;177	B7ZM03;Q75N03	.;HAKAI_HUMAN	F	177;56;176;127;123	ENSP00000401277:L177F;ENSP00000222597:L176F;ENSP00000410615:L127F	ENSP00000222597:L176F	L	+	3	2	CBLL1	107185914	1.000000	0.71417	0.655000	0.29622	0.984000	0.73092	2.192000	0.42649	0.035000	0.15519	0.655000	0.94253	TTG	-	HMMSmart_ZnF_C2H2		0.443	CBLL1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CBLL1	protein_coding	OTTHUMT00000337156.2	G	NM_024814		107185914	+1	no_errors	NM_024814	genbank	human	validated	54_36p	missense	SNP	0.996	T
TRPS1	7227	genome.wustl.edu	37	8	116599478	116599478	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr8:116599478G>T	ENST00000220888.5	-	4	2570	c.2411C>A	c.(2410-2412)cCg>cAg	p.P804Q	TRPS1_ENST00000395715.3_Missense_Mutation_p.P817Q|TRPS1_ENST00000520276.1_Missense_Mutation_p.P808Q|TRPS1_ENST00000519674.1_Missense_Mutation_p.P804Q|TRPS1_ENST00000519076.1_Missense_Mutation_p.P558Q			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	804	Mediates interaction with GLI3.				chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GGTGTATGACGGACTCCCCCG	0.567									Langer-Giedion syndrome																																							0			8											159.0	166.0	164.0					8																	116599478		1978	4138	6116	116668653	SO:0001583	missense	7227	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.2411C>A	8.37:g.116599478G>T	ENSP00000220888:p.Pro804Gln		116668653	B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	HMMSmart_ZnF_C2H2,superfamily_SSF57716,HMMSmart_ZnF_GATA,PatternScan_GATA_ZN_FINGER_1,HMMPfam_GATA,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2	p.P817Q	ENST00000220888.5	37	c.2450		8	.	.	.	.	.	.	.	.	.	.	G	23.9	4.473284	0.84640	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	D;D;D;D;T	0.98684	-5.07;-5.04;-5.01;-5.04;0.76	5.76	5.76	0.90799	.	0.142316	0.52532	D	0.000073	D	0.98548	0.9515	L	0.34521	1.04	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.99929	1.1304	10	0.87932	D	0	.	19.9813	0.97326	0.0:0.0:1.0:0.0	.	808;804;817	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	Q	817;804;558;808;804	ENSP00000379065:P817Q;ENSP00000220888:P804Q;ENSP00000428910:P558Q;ENSP00000428680:P808Q;ENSP00000429174:P804Q	ENSP00000220888:P804Q	P	-	2	0	TRPS1	116668653	1.000000	0.71417	0.990000	0.47175	0.932000	0.56968	7.842000	0.86851	2.726000	0.93360	0.655000	0.94253	CCG	-	NULL		0.567	TRPS1-002	KNOWN	basic	protein_coding	TRPS1	protein_coding	OTTHUMT00000286436.3	G	NM_014112		116668653	-1	no_errors	NM_014112	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
AASS	10157	genome.wustl.edu	37	7	121731846	121731846	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr7:121731846T>C	ENST00000393376.1	-	17	2022	c.1927A>G	c.(1927-1929)Aac>Gac	p.N643D	AASS_ENST00000473553.1_5'UTR|AASS_ENST00000417368.2_Missense_Mutation_p.N643D			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	643	Saccharopine dehydrogenase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						AATGGATTGTTTGAATGTTCA	0.373																																																0			7											53.0	53.0	53.0					7																	121731846		2203	4300	6503	121519082	SO:0001583	missense	10157			AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.1927A>G	7.37:g.121731846T>C	ENSP00000377040:p.Asn643Asp		121519082	O95462	Missense_Mutation	SNP	superfamily_Formate/glycerate dehydrogenase catalytic domain-like,HMMPfam_AlaDh_PNT_N,HMMPfam_AlaDh_PNT_C,superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_Saccharop_dh,superfamily_Glyceraldehyde-3-phosphate dehydrogenase-like C-terminal domain	p.N643D	ENST00000393376.1	37	c.1927	CCDS5783.1	7	.	.	.	.	.	.	.	.	.	.	T	5.143	0.211937	0.09757	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	T;T	0.38401	1.14;1.14	5.58	3.58	0.41010	.	0.088225	0.85682	N	0.000000	T	0.10766	0.0263	N	0.01284	-0.91	0.35719	D	0.81697	B	0.02656	0.0	B	0.06405	0.002	T	0.27226	-1.0080	10	0.02654	T	1	-14.1798	10.038	0.42139	0.0:0.82:0.0:0.18	.	643	Q9UDR5	AASS_HUMAN	D	643	ENSP00000377040:N643D;ENSP00000403768:N643D	ENSP00000351834:N643D	N	-	1	0	AASS	121519082	0.991000	0.36638	0.990000	0.47175	0.853000	0.48598	2.419000	0.44671	1.173000	0.42796	-0.417000	0.06048	AAC	-	superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_Saccharop_dh,superfamily_Glyceraldehyde-3-phosphate dehydrogenase-like C-terminal domain		0.373	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AASS	protein_coding	OTTHUMT00000347300.1	T	NM_005763		121519082	-1	no_errors	NM_005763	genbank	human	reviewed	54_36p	missense	SNP	0.999	C
ATP6V0A2	23545	genome.wustl.edu	37	12	124212338	124212338	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr12:124212338C>T	ENST00000330342.3	+	6	778	c.530C>T	c.(529-531)tCt>tTt	p.S177F		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	177					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		AGATTTGTGTCTGGCCTAATT	0.383																																																0			12											117.0	118.0	118.0					12																	124212338		2203	4300	6503	122778291	SO:0001583	missense	23545			AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344		"""ATPases / V-type"""	18481	protein-coding gene	gene with protein product	"""infantile malignant osteopetrosis"""	611716	"""infantile malignant osteopetrosis"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 2"", ""ATPase, H+ transporting, lysosomal V0 subunit A2"""			2247090, 18157129	Standard	NM_012463		Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	ENST00000330342.3:c.530C>T	12.37:g.124212338C>T	ENSP00000332247:p.Ser177Phe		122778291	A8K026|Q6NUM0	Missense_Mutation	SNP	HMMPfam_V_ATPase_I	p.S177F	ENST00000330342.3	37	c.530	CCDS9254.1	12	.	.	.	.	.	.	.	.	.	.	C	29.4	5.006246	0.93287	.	.	ENSG00000185344	ENST00000330342;ENST00000541854;ENST00000504192	D;D	0.86694	-2.16;-2.16	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.93919	0.8054	M	0.78916	2.43	0.80722	D	1	B;D	0.89917	0.295;1.0	B;D	0.91635	0.246;0.999	D	0.93871	0.7162	10	0.87932	D	0	-29.2267	20.1775	0.98187	0.0:1.0:0.0:0.0	.	177;177	Q9Y487;Q8TBM3	VPP2_HUMAN;.	F	177;177;47	ENSP00000332247:S177F;ENSP00000443441:S47F	ENSP00000332247:S177F	S	+	2	0	ATP6V0A2	122778291	1.000000	0.71417	0.976000	0.42696	0.862000	0.49288	7.757000	0.85209	2.771000	0.95319	0.561000	0.74099	TCT	-	HMMPfam_V_ATPase_I		0.383	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V0A2	protein_coding	OTTHUMT00000400765.2	C	NM_012463		122778291	+1	no_errors	NM_012463	genbank	human	validated	54_36p	missense	SNP	1.000	T
PCDHB6	56130	genome.wustl.edu	37	5	140531362	140531362	+	Silent	SNP	C	C	T	rs183853561	byFrequency	TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr5:140531362C>T	ENST00000231136.1	+	1	1524	c.1524C>T	c.(1522-1524)aaC>aaT	p.N508N	PCDHB6_ENST00000543635.1_Silent_p.N372N	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	508	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.N508N(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGCGGACAACGGCCACCTGT	0.667													C|||	28	0.00559105	0.0	0.0403	5008	,	,		16343	0.0		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	large_intestine(1)	5						C		0,4404		0,0,2202	80.0	83.0	82.0		1524	-0.5	0.3	5		82	2,8594	2.2+/-6.3	0,2,4296	no	coding-synonymous	PCDHB6	NM_018939.2		0,2,6498	TT,TC,CC		0.0233,0.0,0.0154		508/795	140531362	2,12998	2202	4298	6500	140511546	SO:0001819	synonymous_variant	56130			AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1524C>T	5.37:g.140531362C>T			140511546	B2R8R9	Silent	SNP	HMMPfam_Cadherin_2,superfamily_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin	p.N508	ENST00000231136.1	37	c.1524	CCDS4248.1	5																																																																																			-	superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA		0.667	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB6	protein_coding	OTTHUMT00000251818.2	C	NM_018939		140511546	+1	no_errors	NM_018939	genbank	human	reviewed	54_36p	silent	SNP	0.258	T
INPP4B	8821	genome.wustl.edu	37	4	143181692	143181692	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr4:143181692G>T	ENST00000513000.1	-	12	1074	c.641C>A	c.(640-642)gCc>gAc	p.A214D	INPP4B_ENST00000509777.1_Missense_Mutation_p.A214D|INPP4B_ENST00000308502.4_Missense_Mutation_p.A214D|INPP4B_ENST00000262992.4_Missense_Mutation_p.A214D|INPP4B_ENST00000508116.1_Missense_Mutation_p.A214D	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	214					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					ACTTTCCGGGGCTGTACATTC	0.279																																																0			4											52.0	52.0	52.0					4																	143181692		2203	4300	6503	143401142	SO:0001583	missense	8821			U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.641C>A	4.37:g.143181692G>T	ENSP00000425487:p.Ala214Asp		143401142	Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	superfamily_C2 domain (Calcium/lipid-binding domain CaLB)	p.A214D	ENST00000513000.1	37	c.641	CCDS3757.1	4	.	.	.	.	.	.	.	.	.	.	G	22.1	4.242740	0.79912	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000543161;ENST00000508116;ENST00000509777;ENST00000511838;ENST00000542702;ENST00000510812;ENST00000514525	T;T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.52	5.52	0.82312	.	0.071938	0.56097	D	0.000032	T	0.42988	0.1227	L	0.53249	1.67	0.41018	D	0.98505	D;P	0.56746	0.977;0.804	P;B	0.53593	0.73;0.289	T	0.10451	-1.0629	10	0.27785	T	0.31	.	17.2219	0.86960	0.0:0.0:1.0:0.0	.	85;214	B7Z6T2;O15327	.;INP4B_HUMAN	D	214;214;214;85;214;214;29;29;214;85	ENSP00000425487:A214D;ENSP00000262992:A214D;ENSP00000308441:A214D;ENSP00000423954:A214D;ENSP00000422793:A214D;ENSP00000426207:A29D;ENSP00000427250:A214D;ENSP00000421065:A85D	ENSP00000262992:A214D	A	-	2	0	INPP4B	143401142	1.000000	0.71417	0.990000	0.47175	0.992000	0.81027	3.432000	0.52824	2.586000	0.87340	0.655000	0.94253	GCC	-	NULL		0.279	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP4B	protein_coding	OTTHUMT00000364587.1	G	NM_003866		143401142	-1	no_errors	NM_001101669	genbank	human	reviewed	54_36p	missense	SNP	0.996	T
HMGB3	3149	genome.wustl.edu	37	X	150155688	150155688	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chrX:150155688G>T	ENST00000325307.7	+	4	474	c.378G>T	c.(376-378)aaG>aaT	p.K126N	HMGB3_ENST00000448905.2_Missense_Mutation_p.K126N	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	126					DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					TGGCAAAAAAGCTGGGTGAGA	0.453																																																0			X											43.0	42.0	43.0					X																	150155688		2203	4298	6501	149906346	SO:0001583	missense	3149			AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"""High-mobility group / Canonical"""	5004	protein-coding gene	gene with protein product	"""non-histone chromosomal protein"""	300193	"""high-mobility group (nonhistone chromosomal) protein 4"", ""high-mobility group box 3"""	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.378G>T	X.37:g.150155688G>T	ENSP00000359393:p.Lys126Asn		149906346	O95556|Q6NS40	Missense_Mutation	SNP	superfamily_HMG-box,HMMPfam_HMG_box,HMMSmart_HMG,PatternScan_HMG_BOX_1	p.K126N	ENST00000325307.7	37	c.378	CCDS35428.1	X	.	.	.	.	.	.	.	.	.	.	g	16.56	3.156838	0.57259	.	.	ENSG00000029993	ENST00000419110;ENST00000325307;ENST00000455596;ENST00000448905;ENST00000430118	D;D;D;D;D	0.98178	-4.77;-4.77;-4.77;-4.77;-4.77	4.95	4.09	0.47781	High mobility group, HMG1/HMG2, subgroup (2);High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.059448	0.64402	N	0.000005	D	0.98776	0.9588	M	0.87269	2.87	0.48762	D	0.999701	D	0.71674	0.998	D	0.74023	0.982	D	0.98948	1.0793	10	0.66056	D	0.02	.	10.0149	0.42008	0.1755:0.0:0.8245:0.0	.	126	O15347	HMGB3_HUMAN	N	126	ENSP00000410354:K126N;ENSP00000359393:K126N;ENSP00000405601:K126N;ENSP00000442758:K126N;ENSP00000417027:K126N	ENSP00000359393:K126N	K	+	3	2	HMGB3	149906346	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.607000	0.46300	0.870000	0.35726	0.529000	0.55759	AAG	-	superfamily_HMG-box,HMMSmart_HMG,HMMPfam_HMG_box		0.453	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HMGB3	protein_coding	OTTHUMT00000060867.1	G	NM_005342		149906346	+1	no_errors	NM_005342	genbank	human	validated	54_36p	missense	SNP	1.000	T
GIMAP6	474344	genome.wustl.edu	37	7	150325403	150325403	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr7:150325403C>G	ENST00000328902.5	-	3	499	c.283G>C	c.(283-285)Gac>Cac	p.D95H	GIMAP6_ENST00000493969.1_Intron	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	95	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTGGGTGTGTCAATCACCTCA	0.622																																																0			7											96.0	97.0	97.0					7																	150325403		2203	4300	6503	149956336	SO:0001583	missense	474344			AK026343	CCDS34778.1, CCDS59087.1, CCDS75676.1	7q36.1	2014-04-04			ENSG00000133561	ENSG00000133561		"""GTPases, IMAP"""	21918	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 6"""					15474311	Standard	NM_001244072		Approved	FLJ22690, IAN6	uc022apv.1	Q6P9H5	OTTHUMG00000159137	ENST00000328902.5:c.283G>C	7.37:g.150325403C>G	ENSP00000330374:p.Asp95His		149956336	C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_AIG1	p.D95H	ENST00000328902.5	37	c.283	CCDS34778.1	7	.	.	.	.	.	.	.	.	.	.	C	15.81	2.944018	0.53079	.	.	ENSG00000133561	ENST00000328902;ENST00000392862	T	0.80994	-1.44	4.29	4.29	0.51040	AIG1 (1);	0.000000	0.85682	D	0.000000	D	0.91905	0.7437	H	0.95294	3.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93553	0.6888	10	0.87932	D	0	.	12.1006	0.53780	0.0:1.0:0.0:0.0	.	95	Q6P9H5	GIMA6_HUMAN	H	95;156	ENSP00000330374:D95H	ENSP00000330374:D95H	D	-	1	0	GIMAP6	149956336	1.000000	0.71417	0.995000	0.50966	0.043000	0.13939	5.519000	0.67074	2.243000	0.73865	0.561000	0.74099	GAC	-	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_AIG1		0.622	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP6	protein_coding	OTTHUMT00000353457.1	C	NM_024711		149956336	-1	no_errors	NM_024711	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
ARHGEF26	26084	genome.wustl.edu	37	3	153840376	153840376	+	Nonsense_Mutation	SNP	G	G	T			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr3:153840376G>T	ENST00000356448.4	+	2	879	c.595G>T	c.(595-597)Gaa>Taa	p.E199*	ARHGEF26-AS1_ENST00000480639.1_RNA|ARHGEF26-AS1_ENST00000491862.1_RNA|ARHGEF26-AS1_ENST00000479270.1_RNA|ARHGEF26-AS1_ENST00000467912.1_RNA|ARHGEF26_ENST00000465817.1_Nonsense_Mutation_p.E199*|ARHGEF26_ENST00000465093.1_Nonsense_Mutation_p.E199*	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	199					endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						AAAGGACCCCGAACGGGGGCT	0.607																																					GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)											0			3											21.0	24.0	23.0					3																	153840376		1818	4074	5892	155323066	SO:0001587	stop_gained	0			BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24490	protein-coding gene	gene with protein product	"""Src homology 3 domain-containing guanine nucleotide exchange factor"""					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.595G>T	3.37:g.153840376G>T	ENSP00000348828:p.Glu199*		155323066	B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Nonsense_Mutation	SNP	superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_1	p.E199*	ENST00000356448.4	37	c.595	CCDS46938.1	3	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551450	0.86127	.	.	ENSG00000114790	ENST00000356448;ENST00000465093;ENST00000465817	.	.	.	4.83	2.95	0.34219	.	1.123200	0.06623	N	0.757817	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-5.6159	10.8673	0.46862	0.0:0.1419:0.7106:0.1475	.	.	.	.	X	199	.	ENSP00000348828:E199X	E	+	1	0	ARHGEF26	155323066	0.940000	0.31905	0.000000	0.03702	0.183000	0.23260	3.607000	0.54102	0.392000	0.25172	0.561000	0.74099	GAA	-	NULL		0.607	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	uc003ezv.1	protein_coding	OTTHUMT00000353287.3	G	NM_015595		155323066	+1	no_errors	ENST00000356448	ensembl	human	known	54_36p	nonsense	SNP	0.003	T
NEK1	4750	genome.wustl.edu	37	4	170345833	170345833	+	Silent	SNP	T	T	C			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr4:170345833T>C	ENST00000439128.2	-	29	3649	c.3009A>G	c.(3007-3009)caA>caG	p.Q1003Q	NEK1_ENST00000511633.1_Silent_p.Q987Q|NEK1_ENST00000507142.1_Silent_p.Q1031Q|NEK1_ENST00000512193.1_Silent_p.Q934Q|NEK1_ENST00000510533.1_Silent_p.Q959Q	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	1003					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		ACTGAACTGATTGAACTTGAG	0.388																																																0			4											110.0	105.0	107.0					4																	170345833		1875	4100	5975	170582408	SO:0001819	synonymous_variant	4750			AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"""NIMA (never in mitosis gene a)-related kinase 1"""			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.3009A>G	4.37:g.170345833T>C			170582408	G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Silent	SNP	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST	p.Q1003	ENST00000439128.2	37	c.3009	CCDS47162.1	4																																																																																			-	NULL		0.388	NEK1-001	KNOWN	basic|CCDS	protein_coding	NEK1	protein_coding	OTTHUMT00000363157.3	T			170582408	-1	no_errors	NM_012224	genbank	human	validated	54_36p	silent	SNP	0.788	C
TBP	6908	genome.wustl.edu	37	6	170871052	170871052	+	Silent	SNP	G	G	A	rs112083427|rs369312237	byFrequency	TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr6:170871052G>A	ENST00000392092.2	+	3	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_ENST00000230354.6_Silent_p.Q76Q|TBP_ENST00000540980.1_Silent_p.Q56Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	76	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q76Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcagcagcagcagc	0.572																																																4	Substitution - coding silent(4)	lung(3)|prostate(1)	6											14.0	19.0	17.0					6																	170871052		1952	3842	5794	170712977	SO:0001819	synonymous_variant	6908			M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.228G>A	6.37:g.170871052G>A			170712977	B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	superfamily_TFIID_C/glycos_N,HMMPfam_TBP,PatternScan_TFIID	p.Q76	ENST00000392092.2	37	c.228	CCDS5315.1	6																																																																																			-	NULL		0.572	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBP	protein_coding	OTTHUMT00000043271.2	G	NM_003194		170712977	+1	no_errors	NM_003194	genbank	human	reviewed	54_36p	silent	SNP	0.973	A
TTN	7273	genome.wustl.edu	37	2	179458793	179458793	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr2:179458793C>A	ENST00000591111.1	-	247	53628	c.53404G>T	c.(53404-53406)Gct>Tct	p.A17802S	TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A16875S|TTN_ENST00000359218.5_Missense_Mutation_p.A10503S|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A19443S|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A10570S|TTN_ENST00000460472.2_Missense_Mutation_p.A10378S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17802	Ig-like 104.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTCTAAAGCAAGTGTTGCT	0.433																																																0			2											171.0	163.0	166.0					2																	179458793		2007	4189	6196	179167039	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.53404G>T	2.37:g.179458793C>A	ENSP00000465570:p.Ala17802Ser		179167039	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like,superfamily_WD40 repeat-like,superfamily_Positive stranded ssRNA viruses,HMMPfam_Titin_Z,HMMSmart_SM00406,PatternScan_IG_MHC,HMMPfam_PPAK,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,PatternScan_FGGY_KINASES_1,PatternScan_PEROXIDASE_1,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_TYR	p.A15424S	ENST00000591111.1	37	c.46270		2	.	.	.	.	.	.	.	.	.	.	C	13.89	2.370767	0.42003	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	6.17	1.84	0.25277	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.28665	0.0710	N	0.00569	-1.365	0.26237	N	0.978928	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.002;0.002;0.002;0.003	T	0.30621	-0.9972	9	0.87932	D	0	.	9.1027	0.36678	0.629:0.2939:0.0:0.0771	.	10378;10503;10570;17802	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	16875;10378;10570;10503;10376	ENSP00000343764:A16875S;ENSP00000434586:A10378S;ENSP00000340554:A10570S;ENSP00000352154:A10503S	ENSP00000340554:A10570S	A	-	1	0	TTN	179167039	1.000000	0.71417	0.990000	0.47175	0.968000	0.65278	3.634000	0.54302	0.420000	0.25954	0.655000	0.94253	GCT	-	superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like,superfamily_WD40 repeat-like,superfamily_Positive stranded ssRNA viruses,superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179167039	-1	no_errors	ENST00000375038	ensembl	human	known	54_36p	missense	SNP	0.998	A
