#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	T	T	C			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	T	T					Unknown	Invalid:failed_liftOver	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chrUnknown:0T>C								None (None upstream) : None (None downstream)																								0.0																																																0			MT																																								4419	SO:0001628	intergenic_variant	0																															Unknown.37:g.0T>C			4419		RNA	SNP	-	NULL		37	NULL		MT																																																																																			-	-	0	0					ENSG00000210112			T			4419	+1	no_errors	ENST00000387377	ensembl	human	novel	54_36p	rna	SNP	NULL	C
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	T	T	C			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	T	T					Unknown	Invalid:failed_liftOver	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chrUnknown:0T>C								None (None upstream) : None (None downstream)																								0.0																																																0			MT																																								10174	SO:0001628	intergenic_variant	4537																															Unknown.37:g.0T>C			10174		Missense_Mutation	SNP	HMMPfam_Oxidored_q4	p.C39R		37	c.115		MT																																																																																			-	HMMPfam_Oxidored_q4	0	0					MT-ND3			T			10174	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000361227	ensembl	human	known	54_36p	missense	SNP	NULL	C
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	T	T	G			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	T	T					Unknown	Invalid:failed_liftOver	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chrUnknown:0T>G								None (None upstream) : None (None downstream)																								0.0																																																0			MT																																								11149	SO:0001628	intergenic_variant	4538																															Unknown.37:g.0T>G			11149		Missense_Mutation	SNP	HMMPfam_Oxidored_q5_N,HMMPfam_Oxidored_q1	p.L130W		37	c.389		MT																																																																																			-	HMMPfam_Oxidored_q1	0	0					MT-ND4			T			11149	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000361381	ensembl	human	known	54_36p	missense	SNP	NULL	G
C9orf66	157983	genome.wustl.edu	37	9	214675	214675	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr9:214675C>T	ENST00000382387.2	-	1	1218	c.722G>A	c.(721-723)gGg>gAg	p.G241E	DOCK8_ENST00000453981.1_5'Flank|DOCK8_ENST00000432829.2_5'Flank	NM_152569.2	NP_689782.2	Q5T8R8	CI066_HUMAN	chromosome 9 open reading frame 66	241	Arg-rich.									central_nervous_system(1)|cervix(1)|kidney(1)|skin(1)	4	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GTCGGCGGCCCCGGGCAGAGC	0.781																																																0			9											5.0	6.0	6.0					9																	214675		2094	4043	6137	204675	SO:0001583	missense	157983			AK055720	CCDS6439.1	9p24.3	2008-02-05			ENSG00000183784	ENSG00000183784			26436	protein-coding gene	gene with protein product							Standard	NM_152569		Approved	FLJ31158	uc003zge.4	Q5T8R8	OTTHUMG00000021017	ENST00000382387.2:c.722G>A	9.37:g.214675C>T	ENSP00000371824:p.Gly241Glu		204675	Q96NB0	Missense_Mutation	SNP	NULL	p.G241E	ENST00000382387.2	37	c.722	CCDS6439.1	9	.	.	.	.	.	.	.	.	.	.	.	10.27	1.304953	0.23736	.	.	ENSG00000183784	ENST00000382387	T	0.20598	2.06	4.13	0.668	0.17912	.	.	.	.	.	T	0.08313	0.0207	N	0.08118	0	0.09310	N	1	P	0.35844	0.524	B	0.30782	0.12	T	0.23190	-1.0195	9	0.87932	D	0	.	2.8435	0.05536	0.1674:0.4694:0.2578:0.1054	.	241	Q5T8R8	CI066_HUMAN	E	241	ENSP00000371824:G241E	ENSP00000371824:G241E	G	-	2	0	C9orf66	204675	0.006000	0.16342	0.071000	0.20095	0.697000	0.40408	0.174000	0.16743	-0.012000	0.14223	0.484000	0.47621	GGG	-	NULL		0.781	C9orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf66	protein_coding	OTTHUMT00000055436.1	C	NM_152569		204675	-1	no_errors	NM_152569	genbank	human	validated	54_36p	missense	SNP	0.258	T
MMEL1	79258	genome.wustl.edu	37	1	2525356	2525356	+	Silent	SNP	G	G	A			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr1:2525356G>A	ENST00000378412.3	-	19	1925	c.1764C>T	c.(1762-1764)atC>atT	p.I588I	MMEL1_ENST00000288709.6_Silent_p.I579I|MMEL1_ENST00000502556.1_Silent_p.I431I			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	588						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GGGGCTGGAGGATCCCGGCAG	0.597																																																0			1											54.0	48.0	50.0					1																	2525356		2203	4300	6503	2515216	SO:0001819	synonymous_variant	79258			AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"""membrane metallo-endopeptidase-like 2"""	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.1764C>T	1.37:g.2525356G>A			2515216	B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Silent	SNP	"superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Peptidase_M13_N,HMMPfam_Peptidase_M13"	p.I579	ENST00000378412.3	37	c.1737	CCDS30569.2	1																																																																																			-	"superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Peptidase_M13"		0.597	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMEL1	protein_coding	OTTHUMT00000002395.2	G	NM_033467		2515216	-1	no_errors	NM_033467	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
TRPV3	162514	genome.wustl.edu	37	17	3430171	3430171	+	Silent	SNP	C	C	T			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr17:3430171C>T	ENST00000576742.1	-	12	1875	c.1554G>A	c.(1552-1554)tcG>tcA	p.S518S	TRPV3_ENST00000572519.1_Silent_p.S518S|TRPV3_ENST00000301365.4_Silent_p.S518S	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	518					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	ACCAGGCATCCGAGAGGATGG	0.572																																																0			17											144.0	88.0	107.0					17																	3430171		2203	4300	6503	3376921	SO:0001819	synonymous_variant	162514			AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.1554G>A	17.37:g.3430171C>T			3376921	Q8NDW7|Q8NET9|Q8NFH2	Silent	SNP	superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMPfam_Ion_trans	p.S518	ENST00000576742.1	37	c.1554	CCDS11029.1	17																																																																																			-	HMMPfam_Ion_trans		0.572	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TRPV3	protein_coding	OTTHUMT00000207379.2	C	NM_145068		3376921	-1	no_errors	NM_145068	genbank	human	reviewed	54_36p	silent	SNP	0.956	T
TP53	7157	genome.wustl.edu	37	17	7578442	7578442	+	Missense_Mutation	SNP	T	T	C	rs148924904		TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr17:7578442T>C	ENST00000269305.4	-	5	677	c.488A>G	c.(487-489)tAc>tGc	p.Y163C	TP53_ENST00000359597.4_Missense_Mutation_p.Y163C|TP53_ENST00000455263.2_Missense_Mutation_p.Y163C|TP53_ENST00000413465.2_Missense_Mutation_p.Y163C|TP53_ENST00000445888.2_Missense_Mutation_p.Y163C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.Y163C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	163	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y163C(134)|p.Y70C(12)|p.Y31C(12)|p.0?(8)|p.Y163S(7)|p.V157_C176del20(1)|p.Y31S(1)|p.Y163fs*1(1)|p.Y70S(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.I162_Y163delIY(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGACTGCTTGTAGATGGCCAT	0.622		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	183	Substitution - Missense(167)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)	lung(49)|breast(34)|haematopoietic_and_lymphoid_tissue(14)|ovary(14)|urinary_tract(13)|large_intestine(10)|upper_aerodigestive_tract(9)|central_nervous_system(7)|oesophagus(7)|stomach(6)|biliary_tract(6)|bone(4)|pancreas(3)|soft_tissue(2)|liver(2)|endometrium(1)|salivary_gland(1)|prostate(1)	17	GRCh37	CM942135	TP53	M	rs148924904						53.0	54.0	53.0					17																	7578442		2203	4300	6503	7519167	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.488A>G	17.37:g.7578442T>C	ENSP00000269305:p.Tyr163Cys		7519167	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain	p.Y163C	ENST00000269305.4	37	c.488	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	14.54	2.567047	0.45694	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99872	-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36	5.59	3.32	0.38043	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.062225	0.64402	D	0.000003	D	0.99746	0.9899	M	0.70595	2.14	0.58432	D	0.999992	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.996;0.999;0.983;0.999;1.0;0.999;0.994	D	0.98089	1.0408	10	0.87932	D	0	-16.6607	9.5833	0.39501	0.2797:0.0:0.0:0.7203	.	124;163;163;70;163;163;163	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	163;163;163;163;163;163;152;70;31;70;31;163	ENSP00000410739:Y163C;ENSP00000352610:Y163C;ENSP00000269305:Y163C;ENSP00000398846:Y163C;ENSP00000391127:Y163C;ENSP00000391478:Y163C;ENSP00000425104:Y31C;ENSP00000423862:Y70C;ENSP00000424104:Y163C	ENSP00000269305:Y163C	Y	-	2	0	TP53	7519167	1.000000	0.71417	0.998000	0.56505	0.050000	0.14768	5.141000	0.64814	0.446000	0.26666	0.533000	0.62120	TAC	-	HMMPfam_P53,superfamily_p53-like transcription factors		0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	T	NM_000546		7519167	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
PFAS	5198	genome.wustl.edu	37	17	8170199	8170199	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr17:8170199G>T	ENST00000314666.6	+	23	3083	c.2950G>T	c.(2950-2952)Gcc>Tcc	p.A984S	PFAS_ENST00000545834.1_Missense_Mutation_p.A560S	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	984					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	CACAGGCGAGGCCGGGCCCCA	0.682																																																0			17											36.0	31.0	33.0					17																	8170199		2203	4299	6502	8110924	SO:0001583	missense	5198			AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.2950G>T	17.37:g.8170199G>T	ENSP00000313490:p.Ala984Ser		8110924	A6H8V8	Missense_Mutation	SNP	superfamily_PurS-like,superfamily_FGAM synthase PurL linker domain,superfamily_PurM N-terminal domain-like,HMMPfam_AIRS,superfamily_PurM C-terminal domain-like,HMMPfam_AIRS_C,superfamily_Class I glutamine amidotransferase-like	p.A984S	ENST00000314666.6	37	c.2950	CCDS11136.1	17	.	.	.	.	.	.	.	.	.	.	G	2.606	-0.291797	0.05568	.	.	ENSG00000178921	ENST00000545834;ENST00000314666;ENST00000546020	T;T	0.27104	1.69;1.69	5.24	-0.966	0.10320	AIR synthase-related protein, C-terminal (2);	0.276024	0.36034	N	0.002824	T	0.11024	0.0269	N	0.12961	0.28	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.15052	0.012;0.012	T	0.12811	-1.0533	10	0.59425	D	0.04	-1.8473	2.7947	0.05398	0.1641:0.3795:0.3231:0.1332	.	984;984	A8K8N7;O15067	.;PUR4_HUMAN	S	560;984;393	ENSP00000441706:A560S;ENSP00000313490:A984S	ENSP00000313490:A984S	A	+	1	0	PFAS	8110924	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.481000	0.22260	0.009000	0.14813	0.561000	0.74099	GCC	-	superfamily_PurM C-terminal domain-like,HMMPfam_AIRS_C		0.682	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFAS	protein_coding	OTTHUMT00000226994.2	G			8110924	+1	no_errors	NM_012393	genbank	human	reviewed	54_36p	missense	SNP	0.000	T
ARHGEF15	22899	genome.wustl.edu	37	17	8215564	8215564	+	Silent	SNP	C	C	T			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr17:8215564C>T	ENST00000361926.3	+	2	317	c.207C>T	c.(205-207)tcC>tcT	p.S69S	ARHGEF15_ENST00000421050.1_Silent_p.S69S	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	69	Pro-rich.				negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CAGCTGCATCCCTCAAGCCCC	0.602																																																0			17											84.0	82.0	82.0					17																	8215564		2203	4300	6503	8156289	SO:0001819	synonymous_variant	22899			AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.207C>T	17.37:g.8215564C>T			8156289	A8K6G1|Q8N449|Q9H8B4	Silent	SNP	PatternScan_DH_1,superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_SSF50729	p.S69	ENST00000361926.3	37	c.207	CCDS11139.1	17	.	.	.	.	.	.	.	.	.	.	C	6.098	0.386436	0.11524	.	.	ENSG00000198844	ENST00000455564	.	.	.	5.01	1.77	0.24775	.	.	.	.	.	T	0.60025	0.2237	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59904	-0.7366	5	0.66056	D	0.02	-27.7357	5.9542	0.19263	0.0:0.6694:0.0:0.3306	.	.	.	.	L	31	.	ENSP00000413324:P31L	P	+	2	0	ARHGEF15	8156289	0.969000	0.33509	0.993000	0.49108	0.682000	0.39822	0.978000	0.29488	0.729000	0.32403	0.555000	0.69702	CCC	-	NULL		0.602	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF15	protein_coding	OTTHUMT00000226993.2	C	NM_173728		8156289	+1	no_errors	NM_173728	genbank	human	reviewed	54_36p	silent	SNP	0.811	T
ZNF439	90594	genome.wustl.edu	37	19	11977141	11977141	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr19:11977141C>G	ENST00000304030.2	+	1	370	c.170C>G	c.(169-171)tCt>tGt	p.S57C	ZNF439_ENST00000455282.1_Intron|ZNF439_ENST00000592534.1_Intron	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	57	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						AACCTGACCTCTATAGGTAAG	0.448																																																0			19											129.0	131.0	130.0					19																	11977141		2203	4300	6503	11838141	SO:0001583	missense	90594			AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"""Zinc fingers, C2H2-type"", ""-"""	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.170C>G	19.37:g.11977141C>G	ENSP00000305077:p.Ser57Cys		11838141	Q8IYZ7|Q96SU1	Missense_Mutation	SNP	superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.S57C	ENST00000304030.2	37	c.170	CCDS12268.1	19	.	.	.	.	.	.	.	.	.	.	c	8.420	0.846112	0.16963	.	.	ENSG00000171291	ENST00000442091;ENST00000304030	T;T	0.03272	3.99;3.99	0.575	0.575	0.17374	Krueppel-associated box (4);	.	.	.	.	T	0.15565	0.0375	M	0.84585	2.705	0.23754	N	0.996933	D	0.89917	1.0	D	0.81914	0.995	T	0.08868	-1.0701	8	0.29301	T	0.29	.	.	.	.	.	57	Q8NDP4	ZN439_HUMAN	C	44;57	ENSP00000388234:S44C;ENSP00000305077:S57C	ENSP00000305077:S57C	S	+	2	0	ZNF439	11838141	0.000000	0.05858	0.045000	0.18777	0.133000	0.20885	-0.002000	0.12924	0.577000	0.29470	0.194000	0.17425	TCT	-	superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB		0.448	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF439	protein_coding	OTTHUMT00000344513.1	C			11838141	+1	no_errors	NM_152262	genbank	human	provisional	54_36p	missense	SNP	0.250	G
HIRA	7290	genome.wustl.edu	37	22	19341597	19341597	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr22:19341597T>A	ENST00000263208.5	-	22	2862	c.2606A>T	c.(2605-2607)gAc>gTc	p.D869V	HIRA_ENST00000340170.4_Missense_Mutation_p.D662V|HIRA_ENST00000541063.1_Missense_Mutation_p.D825V|HIRA_ENST00000546308.1_Missense_Mutation_p.T790S	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	869	Interaction with histone H4.				anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					GCTCCTAAAGTCTGCACACTG	0.572																																																0			22											100.0	72.0	81.0					22																	19341597		2203	4300	6503	17721597	SO:0001583	missense	7290			X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"""WD repeat domain containing"""	4916	protein-coding gene	gene with protein product	"""DiGeorge critical region gene 1"""	600237	"""HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)"", ""HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"""	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.2606A>T	22.37:g.19341597T>A	ENSP00000263208:p.Asp869Val		17721597	Q05BU9|Q8IXN2	Missense_Mutation	SNP	HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40,PatternScan_WD_REPEATS_1,HMMPfam_HIRA_B,HMMPfam_Hira	p.D869V	ENST00000263208.5	37	c.2606	CCDS13759.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.6|25.6	4.654265|4.654265	0.88056|0.88056	.|.	.|.	ENSG00000100084|ENSG00000100084	ENST00000340170;ENST00000263208;ENST00000541063;ENST00000539600|ENST00000546308	T;T;T|T	0.73897|0.68181	-0.51;-0.79;-0.64|-0.31	5.32|5.32	5.32|5.32	0.75619|0.75619	TUP1-like enhancer of split (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73225|0.73225	0.3560|0.3560	M|M	0.75447|0.75447	2.3|2.3	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.999;1.0|.	D;D;D|.	0.91635|.	0.999;0.997;0.999|.	T|T	0.69465|0.69465	-0.5138|-0.5138	10|7	0.17369|0.09590	T|T	0.5|0.72	-21.493|-21.493	15.4344|15.4344	0.75133|0.75133	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	825;662;869|.	F5H4M2;P54198-2;P54198|.	.;.;HIRA_HUMAN|.	V|S	662;869;825;378|790	ENSP00000345350:D662V;ENSP00000263208:D869V;ENSP00000446073:D825V|ENSP00000441870:T790S	ENSP00000263208:D869V|ENSP00000441870:T790S	D|T	-|-	2|1	0|0	HIRA|HIRA	17721597|17721597	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	7.076000|7.076000	0.76806|0.76806	2.234000|2.234000	0.73211|0.73211	0.460000|0.460000	0.39030|0.39030	GAC|ACT	-	HMMPfam_Hira		0.572	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIRA	protein_coding	OTTHUMT00000316488.2	T	NM_003325		17721597	-1	no_errors	NM_003325	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
RPGRIP1	57096	genome.wustl.edu	37	14	21792899	21792899	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr14:21792899G>C	ENST00000400017.2	+	14	1885	c.1885G>C	c.(1885-1887)Gaa>Caa	p.E629Q	RPGRIP1_ENST00000553500.1_Intron|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.E629Q|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.E591Q|RPGRIP1_ENST00000307974.4_Intron|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000382933.4_Intron	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	629					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GAATCTTTTTGAACTGCACAT	0.498																																																0			14											132.0	126.0	128.0					14																	21792899		2027	4188	6215	20862739	SO:0001583	missense	57096			AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.1885G>C	14.37:g.21792899G>C	ENSP00000382895:p.Glu629Gln		20862739	Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2	p.E629Q	ENST00000400017.2	37	c.1885	CCDS45080.1	14	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458318	0.84317	.	.	ENSG00000092200	ENST00000557771;ENST00000400017;ENST00000206660;ENST00000555587;ENST00000554303	D;D;D;D;D	0.91740	-2.9;-2.9;-2.9;-2.9;-2.9	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.95940	0.8678	M	0.76328	2.33	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.996	D	0.95818	0.8847	10	0.72032	D	0.01	-22.7131	18.396	0.90499	0.0:0.0:1.0:0.0	.	12;104;245;629	Q96KN7-2;G3V3I7;Q96KN7-5;Q96KN7	.;.;.;RPGR1_HUMAN	Q	591;629;629;104;91	ENSP00000451219:E591Q;ENSP00000382895:E629Q;ENSP00000206660:E629Q;ENSP00000451262:E104Q;ENSP00000450426:E91Q	ENSP00000206660:E629Q	E	+	1	0	RPGRIP1	20862739	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.545000	0.90657	2.882000	0.98803	0.655000	0.94253	GAA	-	NULL		0.498	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPGRIP1	protein_coding	OTTHUMT00000410258.1	G	NM_020366		20862739	+1	no_errors	NM_020366	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
PRKCB	5579	genome.wustl.edu	37	16	23848721	23848721	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr16:23848721T>A	ENST00000321728.7	+	2	374	c.199T>A	c.(199-201)Tgc>Agc	p.C67S	PRKCB_ENST00000498058.1_Intron|PRKCB_ENST00000303531.7_Missense_Mutation_p.C67S	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	67					apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	GGGATTCCAGTGCCAAGGTAG	0.532																																																0			16											107.0	117.0	114.0					16																	23848721		2197	4300	6497	23756222	SO:0001583	missense	5579			M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.199T>A	16.37:g.23848721T>A	ENSP00000318315:p.Cys67Ser		23756222	C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_SM00133,HMMPfam_Pkinase_C	p.C67S	ENST00000321728.7	37	c.199	CCDS10618.1	16	.	.	.	.	.	.	.	.	.	.	T	27.8	4.861939	0.91433	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	D;D	0.99891	-7.56;-7.56	4.88	4.88	0.63580	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);	0.138090	0.49916	D	0.000139	D	0.99914	0.9959	H	0.99922	4.955	0.80722	D	1	P;P	0.40000	0.648;0.698	B;P	0.48524	0.444;0.58	D	0.95213	0.8327	10	0.72032	D	0.01	.	12.7251	0.57166	0.0:0.0:0.0:1.0	.	67;67	P05771-2;P05771	.;KPCB_HUMAN	S	67	ENSP00000318315:C67S;ENSP00000305355:C67S	ENSP00000305355:C67S	C	+	1	0	PRKCB	23756222	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.368000	0.79567	1.940000	0.56252	0.533000	0.62120	TGC	-	superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1		0.532	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCB	protein_coding	OTTHUMT00000254504.2	T	NM_212535		23756222	+1	no_errors	NM_002738	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
ASXL1	171023	genome.wustl.edu	37	20	31017224	31017224	+	Silent	SNP	A	A	G			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr20:31017224A>G	ENST00000375687.4	+	7	979	c.555A>G	c.(553-555)gaA>gaG	p.E185E	ASXL1_ENST00000306058.5_Silent_p.E180E|ASXL1_ENST00000470145.1_3'UTR	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	185	Interaction with KDM1A. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CCCACGTGGAATCTGCATCAG	0.512			"""F, N, Mis"""		"""MDS, CMML"""																																		Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	0			20											90.0	86.0	88.0					20																	31017224		2203	4300	6503	30480885	SO:0001819	synonymous_variant	171023			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.555A>G	20.37:g.31017224A>G			30480885	B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Silent	SNP	NULL	p.E185	ENST00000375687.4	37	c.555	CCDS13201.1	20																																																																																			-	NULL		0.512	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASXL1	protein_coding	OTTHUMT00000078624.2	A	NM_015338		30480885	+1	no_errors	NM_015338	genbank	human	reviewed	54_36p	silent	SNP	1.000	G
ZEB1	6935	genome.wustl.edu	37	10	31810579	31810579	+	Silent	SNP	C	C	T	rs143340752	byFrequency	TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr10:31810579C>T	ENST00000320985.10	+	7	2426	c.2316C>T	c.(2314-2316)tgC>tgT	p.C772C	ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000560721.2_Silent_p.C752C|ZEB1_ENST00000542815.3_Silent_p.C705C|ZEB1_ENST00000446923.2_Silent_p.C756C|ZEB1_ENST00000361642.5_Silent_p.C773C			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	772					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				ACTTGTCTTGCGCAAAAAAGG	0.408													C|||	4	0.000798722	0.0008	0.0014	5008	,	,		21846	0.002		0.0	False		,,,				2504	0.0				Ovarian(40;423 959 14296 36701 49589)											0			10						C	,,,,,	1,4405	2.1+/-5.4	0,1,2202	105.0	95.0	98.0		2268,2256,2265,2115,2319,2316	-1.2	1.0	10	dbSNP_134	98	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ZEB1	NM_001128128.2,NM_001174093.1,NM_001174094.1,NM_001174095.1,NM_001174096.1,NM_030751.5	,,,,,	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	,,,,,	756/1109,752/1105,755/1108,705/1058,773/1126,772/1125	31810579	4,13002	2203	4300	6503	31850585	SO:0001819	synonymous_variant	6935			AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.2316C>T	10.37:g.31810579C>T			31850585	B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Silent	SNP	PatternScan_HOMEOBOX_1,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_HOX	p.C772	ENST00000320985.10	37	c.2316	CCDS7169.1	10	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	C	3.879	-0.026265	0.07589	2.27E-4	3.49E-4	ENSG00000148516	ENST00000546250	.	.	.	5.3	-1.2	0.09554	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.4659	0.44607	0.0:0.3733:0.0:0.6267	.	.	.	.	.	-1	.	.	.	+	.	.	ZEB1	31850585	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	0.745000	0.26259	-0.121000	0.11787	0.650000	0.86243	.	-	NULL		0.408	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZEB1	protein_coding	OTTHUMT00000419083.2	C	NM_030751		31850585	+1	no_errors	NM_030751	genbank	human	validated	54_36p	silent	SNP	0.999	T
Unknown	0	genome.wustl.edu	37	16	33380004	33380004	+	IGR	SNP	G	G	A	rs367884506		TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr16:33380004G>A								RP11-23E10.4 (13191 upstream) : BMS1P8 (117158 downstream)																							GAGCAAGTGCGGCTGGAGCTG	0.562																																																0			16																																								33287505	SO:0001628	intergenic_variant	647211																															16.37:g.33380004G>A			33287505		RNA	SNP	-	NULL		37	NULL		16																																																																																			-	-	0	0.562					LOC647211			G			33287505	+1	pseudogene	XR_017499	genbank	human	model	54_36p	rna	SNP	0.971	A
Unknown	0	genome.wustl.edu	37	16	33936797	33936797	+	IGR	SNP	G	G	A	rs74667986	byFrequency	TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr16:33936797G>A								RP11-812E19.3 (159053 upstream) : AC136932.2 (9151 downstream)																							CTGCAACATGGGGAGTCTCCA	0.552																																																0			16																																								33844298	SO:0001628	intergenic_variant	0																															16.37:g.33936797G>A			33844298		Missense_Mutation	SNP	NULL	p.P86L		37	c.257		16																																																																																			-	NULL	0	0.552					LOC100132267			G			33844298	-1	no_errors	XM_001718197	genbank	human	model	54_36p	missense	SNP	0.072	A
ATP8B5P	158381	genome.wustl.edu	37	9	35449788	35449788	+	RNA	SNP	C	C	T			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr9:35449788C>T	ENST00000430846.1	+	0	2638									ATPase, class I, type 8B, member 5, pseudogene																		ATGCTTTGTTCCACTGGCTGC	0.408																																																0			9																																								35439788			158381					9p13.3	2010-09-22			ENSG00000179766	ENSG00000179766		"""ATPases / P-type"""	27245	pseudogene	pseudogene	"""flippase expressed in testis splicing form A pseudogene"""					20210903, 19657017	Standard	NR_003582		Approved	FetA	uc010mkn.2		OTTHUMG00000019862		9.37:g.35449788C>T			35439788		RNA	SNP	-	NULL	ENST00000430846.1	37	NULL		9																																																																																			-	-		0.408	ATP8B5P-002	KNOWN	basic	processed_transcript	LOC158381	pseudogene	OTTHUMT00000052312.1	C	NR_003581.1		35439788	+1	pseudogene	NR_003582	genbank	human	provisional	54_36p	rna	SNP	1.000	T
AOC3	8639	genome.wustl.edu	37	17	41004345	41004345	+	Nonsense_Mutation	SNP	C	C	T			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr17:41004345C>T	ENST00000308423.2	+	1	1145	c.985C>T	c.(985-987)Cga>Tga	p.R329*	AOC3_ENST00000591562.1_5'Flank	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	329			R -> Q (in dbSNP:rs2229595).		amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	CCAGGGAAGTCGAGTGGCCTC	0.582																																					NSCLC(3;192 220 10664 11501 16477)											0			17											46.0	50.0	49.0					17																	41004345		2203	4300	6503	38257871	SO:0001587	stop_gained	8639			AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"""vascular adhesion protein 1"""	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.985C>T	17.37:g.41004345C>T	ENSP00000312326:p.Arg329*		38257871	B2RCI5|K7ESB3|L0L8N9|Q45F94	Nonsense_Mutation	SNP	superfamily_Cu_amine_oxidase_N-reg,HMMPfam_Cu_amine_oxidN2,HMMPfam_Cu_amine_oxidN3,superfamily_CuNH_oxidase,HMMPfam_Cu_amine_oxid,PatternScan_COPPER_AMINE_OXID_1,PatternScan_COPPER_AMINE_OXID_2	p.R329*	ENST00000308423.2	37	c.985	CCDS11444.1	17	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497112	0.85069	.	.	ENSG00000131471	ENST00000308423	.	.	.	4.26	3.29	0.37713	.	0.386207	0.27072	N	0.021064	.	.	.	.	.	.	0.21740	N	0.999565	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	12.2139	0.54396	0.0:0.9167:0.0:0.0833	.	.	.	.	X	329	.	ENSP00000312326:R329X	R	+	1	2	AOC3	38257871	0.001000	0.12720	0.007000	0.13788	0.605000	0.37080	1.365000	0.34182	1.176000	0.42840	0.491000	0.48974	CGA	-	superfamily_CuNH_oxidase,HMMPfam_Cu_amine_oxid		0.582	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOC3	protein_coding	OTTHUMT00000452444.1	C	NM_003734		38257871	+1	no_errors	NM_003734	genbank	human	reviewed	54_36p	nonsense	SNP	0.534	T
SRSF7	6432	genome.wustl.edu	37	2	38977254	38977254	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr2:38977254T>G	ENST00000313117.6	-	2	348	c.111A>C	c.(109-111)ttA>ttC	p.L37F	SRSF7_ENST00000446327.2_Missense_Mutation_p.L37F|GEMIN6_ENST00000409011.1_5'Flank|SRSF7_ENST00000409276.1_Missense_Mutation_p.L37F	NM_001031684.2|NM_001195446.1	NP_001026854.1|NP_001182375.1	Q16629	SRSF7_HUMAN	serine/arginine-rich splicing factor 7	37	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						ATACAGTTCTTAAAGGACCAT	0.433																																																0			2											113.0	110.0	111.0					2																	38977254		2203	4300	6503	38830758	SO:0001583	missense	6432			L41887	CCDS33183.1, CCDS56115.1	2p22.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000115875	ENSG00000115875		"""Zinc fingers, CCHC domain containing"", ""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10789	protein-coding gene	gene with protein product	"""SR splicing factor 7"""	600572	"""splicing factor, arginine/serine-rich 7 (35kD)"", ""splicing factor, arginine/serine-rich 7, 35kDa"""	SFRS7		8013463, 20516191	Standard	NM_001031684		Approved	9G8, ZCRB2, HSSG1, AAG3, RBM37, ZCCHC20	uc002rqz.3	Q16629	OTTHUMG00000102076	ENST00000313117.6:c.111A>C	2.37:g.38977254T>G	ENSP00000325905:p.Leu37Phe		38830758	B4DLU6|G5E9M3|Q564D3	Missense_Mutation	SNP	superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1,HMMPfam_zf-CCHC	p.L37F	ENST00000313117.6	37	c.111	CCDS33183.1	2	.	.	.	.	.	.	.	.	.	.	T	17.39	3.377838	0.61735	.	.	ENSG00000115875	ENST00000313117;ENST00000446327;ENST00000409276	T;T;T	0.75367	-0.93;-0.93;-0.93	6.07	-0.905	0.10527	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.53938	D	0.000042	T	0.79953	0.4535	M	0.62209	1.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.76326	-0.3000	10	0.87932	D	0	.	7.6829	0.28524	0.1318:0.5198:0.0:0.3484	.	37;37	G5E9M3;Q16629	.;SRSF7_HUMAN	F	37	ENSP00000325905:L37F;ENSP00000402264:L37F;ENSP00000386806:L37F	ENSP00000325905:L37F	L	-	3	2	SRSF7	38830758	0.995000	0.38212	0.426000	0.26672	0.998000	0.95712	0.412000	0.21131	-0.373000	0.07979	0.533000	0.62120	TTA	-	superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1		0.433	SRSF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFRS7	protein_coding	OTTHUMT00000219889.2	T	NM_001031684		38830758	-1	no_errors	NM_001031684	genbank	human	validated	54_36p	missense	SNP	0.983	G
KIF18B	146909	genome.wustl.edu	37	17	43008997	43008997	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr17:43008997C>T	ENST00000593135.1	-	11	1587	c.1490G>A	c.(1489-1491)cGg>cAg	p.R497Q	KIF18B_ENST00000438933.2_Missense_Mutation_p.R509Q|KIF18B_ENST00000590129.1_Missense_Mutation_p.R518Q|KIF18B_ENST00000587309.1_Missense_Mutation_p.R509Q|KIF18B_ENST00000339151.4_Missense_Mutation_p.R509Q	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	518					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				ATCCAGTTCCCGTGCTGAGAA	0.577																																																0			17											100.0	103.0	102.0					17																	43008997		1991	4173	6164	40364523	SO:0001583	missense	146909				CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"""Kinesins"""	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.1490G>A	17.37:g.43008997C>T	ENSP00000465992:p.Arg497Gln		40364523	A6NJI2|B7ZM49|B9EGM8|D5L6I1	Missense_Mutation	SNP	HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1	p.R509Q	ENST00000593135.1	37	c.1526	CCDS45709.2	17	.	.	.	.	.	.	.	.	.	.	C	1.480	-0.557477	0.03967	.	.	ENSG00000186185	ENST00000438933;ENST00000339151;ENST00000376982	T;T	0.63096	-0.02;-0.02	4.52	-2.3	0.06785	.	.	.	.	.	T	0.15652	0.0377	N	0.00138	-2.015	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.38001	-0.9681	9	0.02654	T	1	.	4.7268	0.12945	0.0:0.3013:0.3543:0.3444	.	518;506;518	Q86Y91;Q86Y91-3;Q86Y91-2	KI18B_HUMAN;.;.	Q	509	ENSP00000412798:R509Q;ENSP00000341466:R509Q	ENSP00000341466:R509Q	R	-	2	0	KIF18B	40364523	0.003000	0.15002	0.003000	0.11579	0.006000	0.05464	-0.427000	0.06999	-0.263000	0.09378	-0.238000	0.12139	CGG	-	NULL		0.577	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	KIF18B	protein_coding	OTTHUMT00000448724.1	C	NM_001080443		40364523	-1	no_errors	NM_001080443	genbank	human	provisional	54_36p	missense	SNP	0.004	T
HAUS2	55142	genome.wustl.edu	37	15	42856052	42856052	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr15:42856052A>T	ENST00000260372.3	+	5	558	c.495A>T	c.(493-495)aaA>aaT	p.K165N	HAUS2_ENST00000568876.1_Missense_Mutation_p.K134N	NM_018097.2	NP_060567.1	Q9NVX0	HAUS2_HUMAN	HAUS augmin-like complex, subunit 2	165					centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|HAUS complex (GO:0070652)|microtubule (GO:0005874)|nucleus (GO:0005634)				endometrium(1)|large_intestine(1)|lung(1)	3						ATCTAAAGAAAATGGTGAGTA	0.338																																																0			15											76.0	87.0	83.0					15																	42856052		2202	4297	6499	40643344	SO:0001583	missense	55142			AK001322	CCDS10090.1, CCDS45247.1	15q15.1	2014-02-20	2009-04-20	2009-04-20	ENSG00000137814	ENSG00000137814		"""HAUS augmin-like complex subunits"""	25530	protein-coding gene	gene with protein product		613429	"""chromosome 15 open reading frame 25"", ""centrosomal protein 27kDa"""	C15orf25, CEP27		14702039, 14654843, 19427217	Standard	NM_018097		Approved	FLJ10460, HsT17025	uc001zqe.3	Q9NVX0	OTTHUMG00000130678	ENST00000260372.3:c.495A>T	15.37:g.42856052A>T	ENSP00000260372:p.Lys165Asn		40643344	C9JH36|Q9H9B3	Missense_Mutation	SNP	NULL	p.K165N	ENST00000260372.3	37	c.495	CCDS10090.1	15	.	.	.	.	.	.	.	.	.	.	A	5.416	0.261926	0.10239	.	.	ENSG00000137814	ENST00000260372;ENST00000391623	T	0.47869	0.83	5.79	1.92	0.25849	.	0.408179	0.29473	N	0.012045	T	0.26448	0.0646	L	0.31926	0.97	0.27365	N	0.95584	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.09122	-1.0689	10	0.13470	T	0.59	.	1.7802	0.03030	0.2946:0.3677:0.0892:0.2485	.	134;165	Q9NVX0-3;Q9NVX0	.;HAUS2_HUMAN	N	165;134	ENSP00000260372:K165N	ENSP00000260372:K165N	K	+	3	2	HAUS2	40643344	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.628000	0.24522	0.515000	0.28320	0.459000	0.35465	AAA	-	NULL		0.338	HAUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP27	protein_coding	OTTHUMT00000253173.1	A	NM_018097		40643344	+1	no_errors	NM_018097	genbank	human	validated	54_36p	missense	SNP	1.000	T
ANK1	286	genome.wustl.edu	37	8	41571692	41571692	+	Silent	SNP	G	G	T	rs61753679	byFrequency	TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr8:41571692G>T	ENST00000347528.4	-	16	1865	c.1782C>A	c.(1780-1782)tcC>tcA	p.S594S	ANK1_ENST00000352337.4_Silent_p.S594S|ANK1_ENST00000396942.1_Silent_p.S594S|ANK1_ENST00000265709.8_Silent_p.S627S|ANK1_ENST00000379758.2_Silent_p.S594S|ANK1_ENST00000396945.1_Silent_p.S594S|ANK1_ENST00000289734.7_Silent_p.S594S	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	594	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GGCTGTGCGGGGAGCCGCCCC	0.657													G|||	55	0.0109824	0.0008	0.0274	5008	,	,		13697	0.001		0.0318	False		,,,				2504	0.002															0			8						G	,,,,	31,4373		0,31,2171	17.0	20.0	19.0		1782,1881,1782,1782,1782	2.8	1.0	8	dbSNP_129	19	312,8284		8,296,3994	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ANK1	NM_000037.3,NM_001142446.1,NM_020475.2,NM_020476.2,NM_020477.2	,,,,	8,327,6165	TT,TG,GG		3.6296,0.7039,2.6385	,,,,	594/1881,627/1898,594/1857,594/1882,594/1720	41571692	343,12657	2202	4298	6500	41690849	SO:0001819	synonymous_variant	286			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.1782C>A	8.37:g.41571692G>T			41690849	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMPfam_ZU5,HMMSmart_SM00218,HMMSmart_SM00005,superfamily_DEATH domain,HMMPfam_Death	p.S594	ENST00000347528.4	37	c.1782	CCDS6119.1	8																																																																																			-	superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank		0.657	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANK1	protein_coding	OTTHUMT00000317297.1	G	NM_020475		41690849	-1	no_errors	NM_020476	genbank	human	reviewed	54_36p	silent	SNP	1.000	T
ZNF850	342892	genome.wustl.edu	37	19	37238862	37238862	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr19:37238862T>A	ENST00000591344.1	-	5	3238	c.3080A>T	c.(3079-3081)cAt>cTt	p.H1027L	ZNF850_ENST00000589390.1_Intron	NM_001193552.1|NM_001267779.1	NP_001180481.1|NP_001254708.1	A8MQ14	ZN850_HUMAN	zinc finger protein 850	1027					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										GATTCGTTTATGTTGACTAAG	0.428																																																0			19																																								41930702	SO:0001583	missense	342892			BC052603	CCDS59379.1, CCDS74350.1	19q13.12	2013-01-08	2010-08-02	2010-08-02		ENSG00000267041		"""Zinc fingers, C2H2-type"", ""-"""	27994	protein-coding gene	gene with protein product			"""zinc finger protein 850 pseudogene"", ""zinc finger protein 850 (pseudogene)"""	ZNF850P		12477932	Standard	NM_001193552		Approved		uc010efc.3	A8MQ14		ENST00000591344.1:c.3080A>T	19.37:g.37238862T>A	ENSP00000464976:p.His1027Leu		41930702		Missense_Mutation	SNP	superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1	p.H1025L	ENST00000591344.1	37	c.3074	CCDS59379.1	19																																																																																			-	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1		0.428	ZNF850-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC342892	protein_coding	OTTHUMT00000453557.1	T	XM_001720258		41930702	-1	pseudogene	XM_001720258	genbank	human	model	54_36p	missense	SNP	0.043	A
CDC20	991	genome.wustl.edu	37	1	43828712	43828712	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr1:43828712G>A	ENST00000372462.1	+	10	1615	c.1412G>A	c.(1411-1413)cGc>cAc	p.R471H	ELOVL1_ENST00000470769.1_5'Flank|CDC20_ENST00000310955.6_Missense_Mutation_p.R471H			Q12834	CDC20_HUMAN	cell division cycle 20	471					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle (GO:0007049)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein ubiquitination (GO:0016567)|regulation of dendrite development (GO:0050773)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|spindle (GO:0005819)	enzyme binding (GO:0019899)|protein C-terminus binding (GO:0008022)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGGCTATGGCGCTGTTTTGAG	0.617																																					Esophageal Squamous(137;1154 1759 10362 10401 46925)											0			1											86.0	90.0	89.0					1																	43828712		2203	4300	6503	43601299	SO:0001583	missense	991			U05340	CCDS484.1	1p34.1	2013-01-17	2013-01-17		ENSG00000117399	ENSG00000117399		"""WD repeat domain containing"""	1723	protein-coding gene	gene with protein product		603618	"""CDC20 (cell division cycle 20, S. cerevisiae, homolog)"", ""CDC20 cell division cycle 20 homolog (S. cerevisiae)"", ""cell division cycle 20 homolog (S. cerevisiae)"""			7513050, 9353311	Standard	NM_001255		Approved	p55CDC, CDC20A	uc001cix.3	Q12834	OTTHUMG00000007420	ENST00000372462.1:c.1412G>A	1.37:g.43828712G>A	ENSP00000361540:p.Arg471His		43601299	B2R6Z6|D3DPJ1|Q5JUY4|Q9BW56|Q9UQI9	Missense_Mutation	SNP	superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,PatternScan_WD_REPEATS_1	p.R471H	ENST00000372462.1	37	c.1412	CCDS484.1	1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.463289	0.63513	.	.	ENSG00000117399	ENST00000437896;ENST00000310955;ENST00000372462	T;T	0.30714	1.52;1.52	5.62	5.62	0.85841	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.117526	0.64402	D	0.000011	T	0.22589	0.0545	N	0.25060	0.705	0.46586	D	0.999118	B	0.12013	0.005	B	0.12156	0.007	T	0.02877	-1.1099	10	0.48119	T	0.1	-17.7688	12.9207	0.58230	0.0742:0.0:0.9258:0.0	.	471	Q12834	CDC20_HUMAN	H	447;471;471	ENSP00000308450:R471H;ENSP00000361540:R471H	ENSP00000308450:R471H	R	+	2	0	CDC20	43601299	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.087000	0.71362	2.639000	0.89480	0.561000	0.74099	CGC	-	superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40		0.617	CDC20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CDC20	protein_coding	OTTHUMT00000019488.1	G	NM_001255		43601299	+1	no_errors	NM_001255	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
ABCA13	154664	genome.wustl.edu	37	7	48450175	48450175	+	Silent	SNP	C	C	T			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr7:48450175C>T	ENST00000435803.1	+	40	12153	c.12129C>T	c.(12127-12129)cgC>cgT	p.R4043R		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4043	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGAGTGACCGCGTGGCCGTCC	0.622																																																0			7											111.0	109.0	110.0					7																	48450175		2081	4217	6298	48420721	SO:0001819	synonymous_variant	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.12129C>T	7.37:g.48450175C>T			48420721	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	PatternScan_SERPIN	p.A3989V	ENST00000435803.1	37	c.11966	CCDS47584.1	7																																																																																			-	NULL		0.622	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	protein_coding	OTTHUMT00000341964.2	C	NM_152701		48420721	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	NM_152701	genbank	human	reviewed	54_36p	missense	SNP	0.271	T
EMB	133418	genome.wustl.edu	37	5	49706792	49706792	+	Missense_Mutation	SNP	T	T	C	rs138980748		TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr5:49706792T>C	ENST00000303221.5	-	4	606	c.391A>G	c.(391-393)Atc>Gtc	p.I131V	EMB_ENST00000506190.1_5'UTR|EMB_ENST00000514111.1_Missense_Mutation_p.I81V|EMB_ENST00000508934.1_Missense_Mutation_p.I77V	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	131	Ig-like V-type 1.				cell adhesion (GO:0007155)|plasma membrane lactate transport (GO:0035879)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	organic cyclic compound binding (GO:0097159)			breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				CTATTAATGATGGTGAACCTA	0.279																																																0			5						T	VAL/ILE	1,4401	2.1+/-5.4	0,1,2200	35.0	37.0	36.0		391	1.6	0.2	5	dbSNP_134	36	0,8532		0,0,4266	no	missense	EMB	NM_198449.2	29	0,1,6466	CC,CT,TT		0.0,0.0227,0.0077	benign	131/328	49706792	1,12933	2201	4266	6467	49742549	SO:0001583	missense	133418			BC059398	CCDS3953.1	5q11.1	2013-01-29	2010-06-24		ENSG00000170571	ENSG00000170571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30465	protein-coding gene	gene with protein product		615669	"""embigin homolog (mouse)"""			9438341	Standard	NM_198449		Approved	MGC71745	uc003jom.3	Q6PCB8	OTTHUMG00000131161	ENST00000303221.5:c.391A>G	5.37:g.49706792T>C	ENSP00000302289:p.Ile131Val		49742549	B7Z6S3|B7Z902	Missense_Mutation	SNP	superfamily_Immunoglobulin,HMMSmart_SM00409	p.I131V	ENST00000303221.5	37	c.391	CCDS3953.1	5	.	.	.	.	.	.	.	.	.	.	T	7.470	0.646538	0.14451	2.27E-4	0.0	ENSG00000170571	ENST00000303221;ENST00000510295;ENST00000508934;ENST00000514111	T;T;T	0.42513	2.66;0.97;2.66	5.4	1.65	0.23941	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.247381	0.41001	N	0.000961	T	0.24812	0.0602	N	0.20986	0.625	0.09310	N	1	B;B	0.26577	0.06;0.153	B;B	0.28916	0.017;0.096	T	0.17684	-1.0361	9	.	.	.	-7.1002	6.951	0.24546	0.0:0.2814:0.0:0.7186	.	77;131	D6RDX7;Q6PCB8	.;EMB_HUMAN	V	131;103;77;81	ENSP00000302289:I131V;ENSP00000425215:I77V;ENSP00000426404:I81V	.	I	-	1	0	EMB	49742549	0.001000	0.12720	0.154000	0.22540	0.892000	0.51952	-0.089000	0.11180	0.056000	0.16144	0.524000	0.50904	ATC	-	superfamily_Immunoglobulin,HMMSmart_SM00409		0.279	EMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMB	protein_coding	OTTHUMT00000253853.1	T	NM_198449		49742549	-1	no_errors	NM_198449	genbank	human	reviewed	54_36p	missense	SNP	0.000	C
AGAP6	414189	genome.wustl.edu	37	10	51748557	51748557	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr10:51748557G>A	ENST00000374056.4	+	1	480	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	AGAP6_ENST00000412531.3_Missense_Mutation_p.E28K			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	28					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						GTGTCCCTCTGAATCTGAGAC	0.592																																																0			10																																								51418563	SO:0001583	missense	0				CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23466	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 3"""	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.82G>A	10.37:g.51748557G>A	ENSP00000363168:p.Glu28Lys		51418563		Missense_Mutation	SNP	superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,superfamily_ArfGAP,HMMPfam_ArfGap,HMMSmart_ArfGap,superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank	p.E28K	ENST00000374056.4	37	c.82		10	.	.	.	.	.	.	.	.	.	.	G	10.91	1.485046	0.26598	.	.	ENSG00000204149	ENST00000374056;ENST00000412531	D;D	0.85861	-2.04;-2.04	1.16	1.16	0.20824	.	0.062472	0.64402	D	0.000006	D	0.83110	0.5183	L	0.32530	0.975	0.09310	N	0.999997	P	0.34587	0.458	P	0.51742	0.678	T	0.74312	-0.3706	10	0.87932	D	0	.	5.7414	0.18096	0.0:0.0:1.0:0.0	.	28	C9IYN2	.	K	28	ENSP00000363168:E28K;ENSP00000400972:E28K	ENSP00000363168:E28K	E	+	1	0	AGAP6	51418563	0.023000	0.18921	0.455000	0.27031	0.091000	0.18340	0.861000	0.27885	0.958000	0.37956	0.175000	0.17021	GAA	-	NULL		0.592	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	AGAP6	protein_coding		G	NM_001077665		51418563	+1	no_errors	ENST00000374056	ensembl	human	known	54_36p	missense	SNP	0.099	A
PFDN5	5204	genome.wustl.edu	37	12	53691830	53691830	+	Splice_Site	SNP	C	C	G			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr12:53691830C>G	ENST00000551018.1	+	5	561	c.284C>G	c.(283-285)aCa>aGa	p.T95R	PFDN5_ENST00000334478.4_Splice_Site_p.T95R|PFDN5_ENST00000351500.3_Splice_Site_p.T50R|PFDN5_ENST00000550846.1_Splice_Site_p.T25R|C12orf10_ENST00000548632.1_5'Flank|C12orf10_ENST00000267103.5_5'Flank|RP11-680A11.5_ENST00000550263.1_RNA|C12orf10_ENST00000549488.1_5'Flank	NM_002624.3	NP_002615.2	Q99471	PFD5_HUMAN	prefoldin subunit 5	95					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|protein folding (GO:0006457)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	transcription corepressor activity (GO:0003714)			kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)	8						ATCTTGTAGACAGCTGAGGAT	0.488																																																0			12											225.0	229.0	228.0					12																	53691830		2203	4300	6503	51978097	SO:0001630	splice_region_variant	5204			D89667	CCDS8853.1, CCDS8854.1	12q13.13	2008-05-14	2006-02-24						8869	protein-coding gene	gene with protein product		604899	"""prefoldin 5"""			9630229, 9792694	Standard	NM_002624		Approved	PFD5, MM-1	uc001scl.3	Q99471	OTTHUMG00000169675	ENST00000551018.1:c.283-1C>G	12.37:g.53691830C>G			51978097	A8K9A8|Q54AA8|Q9C083|Q9C084	Missense_Mutation	SNP	superfamily_Prefoldin,HMMPfam_Prefoldin	p.T95R	ENST00000551018.1	37	c.284	CCDS8853.1	12	.	.	.	.	.	.	.	.	.	.	C	20.4	3.992038	0.74703	.	.	ENSG00000123349	ENST00000551018;ENST00000351500;ENST00000334478	T;T;T	0.49139	0.79;0.79;0.79	5.29	5.29	0.74685	Prefoldin (1);Prefoldin subunit (1);	0.100752	0.64402	D	0.000003	T	0.53254	0.1785	L	0.52266	1.64	0.46222	D	0.998936	P;P	0.51653	0.934;0.947	P;P	0.49637	0.617;0.526	T	0.54774	-0.8243	10	0.54805	T	0.06	.	16.8104	0.85717	0.0:1.0:0.0:0.0	.	50;95	Q9C083;Q99471	.;PFD5_HUMAN	R	95;50;95	ENSP00000447942:T95R;ENSP00000266964:T50R;ENSP00000334188:T95R	ENSP00000334188:T95R	T	+	2	0	PFDN5	51978097	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	4.488000	0.60300	2.652000	0.90054	0.555000	0.69702	ACA	-	superfamily_Prefoldin,HMMPfam_Prefoldin		0.488	PFDN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFDN5	protein_coding	OTTHUMT00000405368.2	C		Missense_Mutation	51978097	+1	no_errors	NM_002624	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
KIT	3815	genome.wustl.edu	37	4	55561756	55561756	+	Missense_Mutation	SNP	G	G	A	rs376469897	byFrequency	TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr4:55561756G>A	ENST00000288135.5	+	2	243	c.146G>A	c.(145-147)cGc>cAc	p.R49H		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	49	Ig-like C2-type 1.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTAATAGTCCGCGTGGGCGAC	0.473		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				G|||	3	0.000599042	0.0015	0.0	5008	,	,		18286	0.001		0.0	False		,,,				2504	0.0					yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"""L, M, O, E"""	0			4						G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	110.0	99.0	103.0		146,146	-3.5	0.0	4		103	0,8600		0,0,4300	no	missense,missense	KIT	NM_001093772.1,NM_000222.2	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	49/973,49/977	55561756	1,13005	2203	4300	6503	55256513	SO:0001583	missense	3815	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.146G>A	4.37:g.55561756G>A	ENSP00000288135:p.Arg49His		55256513	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	superfamily_SSF48726,HMMSmart_IGc2,HMMPfam_ig,HMMSmart_IG,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR	p.R49H	ENST00000288135.5	37	c.146	CCDS3496.1	4	.	.	.	.	.	.	.	.	.	.	G	7.096	0.573068	0.13623	2.27E-4	0.0	ENSG00000157404	ENST00000288135;ENST00000412167;ENST00000536403	T;T	0.13307	2.6;2.6	5.19	-3.55	0.04639	Immunoglobulin-like fold (1);	1.448210	0.04040	N	0.302927	T	0.09113	0.0225	N	0.14661	0.345	0.09310	N	1	B;B	0.30361	0.211;0.277	B;B	0.33521	0.098;0.165	T	0.40346	-0.9568	10	0.49607	T	0.09	.	7.6489	0.28337	0.2859:0.1445:0.5697:0.0	.	49;49	P10721-2;P10721	.;KIT_HUMAN	H	49	ENSP00000288135:R49H;ENSP00000390987:R49H	ENSP00000288135:R49H	R	+	2	0	KIT	55256513	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.046000	0.14035	-0.429000	0.07329	-1.283000	0.01379	CGC	-	superfamily_SSF48726		0.473	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIT	protein_coding	OTTHUMT00000250618.1	G			55256513	+1	no_errors	NM_000222	genbank	human	reviewed	54_36p	missense	SNP	0.000	A
PCK1	5105	genome.wustl.edu	37	20	56139415	56139415	+	Silent	SNP	G	G	A	rs141878699	byFrequency	TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr20:56139415G>A	ENST00000319441.4	+	7	1316	c.1152G>A	c.(1150-1152)acG>acA	p.T384T	PCK1_ENST00000535860.1_Silent_p.T252T|PCK1_ENST00000543666.1_Silent_p.T67T	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	384					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TCACCATCACGTCCTGGAAGA	0.572													G|||	3	0.000599042	0.0	0.0043	5008	,	,		19535	0.0		0.0	False		,,,				2504	0.0															0			20						G		3,4403	6.2+/-15.9	0,3,2200	88.0	79.0	82.0		1152	-10.4	0.6	20	dbSNP_134	82	12,8588	8.4+/-32.0	0,12,4288	no	coding-synonymous	PCK1	NM_002591.3		0,15,6488	AA,AG,GG		0.1395,0.0681,0.1153		384/623	56139415	15,12991	2203	4300	6503	55572821	SO:0001819	synonymous_variant	5105				CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.1152G>A	20.37:g.56139415G>A			55572821	A8K437|B4DT64|Q8TCA3|Q9UJD2	Silent	SNP	superfamily_PEP_carboxykinase_N,HMMPfam_PEPCK,superfamily_SSF53795,PatternScan_PEPCK_GTP	p.T384	ENST00000319441.4	37	c.1152	CCDS13460.1	20																																																																																			-	HMMPfam_PEPCK,superfamily_SSF53795		0.572	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCK1	protein_coding	OTTHUMT00000079851.2	G			55572821	+1	no_errors	NM_002591	genbank	human	reviewed	54_36p	silent	SNP	0.295	A
NELFCD	51497	genome.wustl.edu	37	20	57566367	57566367	+	Splice_Site	SNP	A	A	G	rs534907805		TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr20:57566367A>G	ENST00000344018.3	+	9	1009	c.982A>G	c.(982-984)Atc>Gtc	p.I328V	NELFCD_ENST00000479207.1_3'UTR|NELFCD_ENST00000602795.1_Splice_Site_p.I337V			Q8IXH7	NELFD_HUMAN	negative elongation factor complex member C/D	328					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	membrane (GO:0016020)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)											TTCTCCTCAGATCCGCGTTCC	0.582													A|||	1	0.000199681	0.0008	0.0	5008	,	,		20669	0.0		0.0	False		,,,				2504	0.0															0			20											129.0	119.0	122.0					20																	57566367		2203	4300	6503	56999762	SO:0001630	splice_region_variant	51497			AF161479	CCDS13473.1, CCDS13473.2	20q13	2013-01-31	2013-01-31	2013-01-31	ENSG00000101158	ENSG00000101158			15934	protein-coding gene	gene with protein product	"""trihydrophobin 1"""	605297	"""TH1-like (Drosophila homolog)"", ""TH1-like (Drosophila)"""	TH1L		11030415, 11042152	Standard	NM_198976		Approved	HSPC130, TH1, NELF-C, NELF-D	uc002yag.4	Q8IXH7	OTTHUMG00000032861	ENST00000344018.3:c.982-1A>G	20.37:g.57566367A>G			56999762	B4DE06|Q9BYL2|Q9H405|Q9H888|Q9H8T3|Q9NVX5|Q9P029|Q9UGN1|Q9UGN2|Q9UGN3	Missense_Mutation	SNP	HMMPfam_TH1	p.I328V	ENST00000344018.3	37	c.982		20	.	.	.	.	.	.	.	.	.	.	A	16.33	3.091944	0.55968	.	.	ENSG00000101158	ENST00000344018	.	.	.	5.39	5.39	0.77823	.	0.095855	0.64402	N	0.000001	T	0.81138	0.4760	M	0.80616	2.505	0.58432	D	0.999999	P;B	0.40032	0.699;0.0	P;B	0.58130	0.833;0.003	T	0.80448	-0.1378	9	0.39692	T	0.17	-33.0608	15.6153	0.76760	1.0:0.0:0.0:0.0	.	337;328	E1P5H4;Q8IXH7	.;NELFD_HUMAN	V	328	.	ENSP00000342300:I328V	I	+	1	0	TH1L	56999762	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	7.308000	0.78929	2.276000	0.75962	0.524000	0.50904	ATC	-	HMMPfam_TH1		0.582	NELFCD-201	KNOWN	basic|appris_principal	protein_coding	TH1L	protein_coding		A	NM_198976	Missense_Mutation	56999762	+1	no_errors	NM_198976	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
SRP72	6731	genome.wustl.edu	37	4	57357655	57357655	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr4:57357655C>A	ENST00000342756.5	+	16	2282	c.1561C>A	c.(1561-1563)Ctt>Att	p.L521I	SRP72_ENST00000510663.1_Missense_Mutation_p.L460I	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	521					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					TGTTGAGGCTCTTGAAAATTC	0.378																																																0			4											147.0	150.0	149.0					4																	57357655		2203	4300	6503	57052412	SO:0001583	missense	6731			AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"""Tetratricopeptide (TTC) repeat domain containing"""	11303	protein-coding gene	gene with protein product		602122	"""signal recognition particle 72kD"""			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.1561C>A	4.37:g.57357655C>A	ENSP00000342181:p.Leu521Ile		57052412	G5E9Z8|Q7Z3C0	Missense_Mutation	SNP	superfamily_SSF48452,HMMPfam_TPR_1,HMMPfam_SRP72	p.L521I	ENST00000342756.5	37	c.1561	CCDS3506.1	4	.	.	.	.	.	.	.	.	.	.	C	29.0	4.972031	0.92919	.	.	ENSG00000174780	ENST00000342756;ENST00000537129;ENST00000510663;ENST00000505314	D;D	0.89050	-2.42;-2.46	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.93996	0.8077	M	0.79475	2.455	0.80722	D	1	D;D;D	0.71674	0.998;0.977;0.998	D;P;D	0.69142	0.962;0.883;0.917	D	0.93956	0.7236	10	0.52906	T	0.07	.	16.7765	0.85552	0.0:1.0:0.0:0.0	.	460;521;521	G5E9Z8;Q86X80;O76094	.;.;SRP72_HUMAN	I	521;466;460;282	ENSP00000342181:L521I;ENSP00000424576:L460I	ENSP00000342181:L521I	L	+	1	0	SRP72	57052412	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.793000	0.62474	2.604000	0.88044	0.655000	0.94253	CTT	-	NULL		0.378	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRP72	protein_coding	OTTHUMT00000250782.7	C			57052412	+1	no_errors	NM_006947	genbank	human	validated	54_36p	missense	SNP	1.000	A
RNF111	54778	genome.wustl.edu	37	15	59386983	59386983	+	Splice_Site	SNP	C	C	T			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr15:59386983C>T	ENST00000557998.1	+	14	3156	c.2869C>T	c.(2869-2871)Cgt>Tgt	p.R957C	RNF111_ENST00000434298.1_Splice_Site_p.R966C|RNF111_ENST00000560080.1_3'UTR|RNF111_ENST00000348370.4_Splice_Site_p.R949C|RNF111_ENST00000559209.1_Splice_Site_p.R958C|RNF111_ENST00000561186.1_Splice_Site_p.R966C	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	957					gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		CAATAATAGACGTCTTCCATG	0.338																																					NSCLC(72;983 1365 10746 34387 47081)											0			15											139.0	130.0	133.0					15																	59386983		2192	4291	6483	57174275	SO:0001630	splice_region_variant	54778			AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.2868-1C>T	15.37:g.59386983C>T			57174275	C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Missense_Mutation	SNP	superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4	p.R949C	ENST00000557998.1	37	c.2845	CCDS58366.1	15	.	.	.	.	.	.	.	.	.	.	C	20.6	4.010879	0.75046	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	T;T	0.47869	0.83;0.83	5.86	5.86	0.93980	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.054330	0.85682	D	0.000000	T	0.65933	0.2739	L	0.58969	1.84	0.80722	D	1	D;D;D	0.89917	1.0;0.996;0.999	P;P;P	0.62813	0.863;0.887;0.907	T	0.66408	-0.5931	10	0.87932	D	0	-16.3592	20.1931	0.98233	0.0:1.0:0.0:0.0	.	966;957;949	Q6ZNA4-3;Q6ZNA4;Q6ZNA4-2	.;RN111_HUMAN;.	C	949;966	ENSP00000288199:R949C;ENSP00000393641:R966C	ENSP00000288199:R949C	R	+	1	0	RNF111	57174275	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	5.954000	0.70298	2.771000	0.95319	0.563000	0.77884	CGT	-	superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4		0.338	RNF111-003	KNOWN	basic|CCDS	protein_coding	RNF111	protein_coding	OTTHUMT00000416012.1	C	NM_017610	Missense_Mutation	57174275	+1	no_errors	NM_017610	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
ZNF479	90827	genome.wustl.edu	37	7	57188819	57188819	+	Silent	SNP	C	C	T			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr7:57188819C>T	ENST00000331162.4	-	5	573	c.303G>A	c.(301-303)caG>caA	p.Q101Q		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	101					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			CTTTGATGCCCTGCTCTGGCT	0.368																																																0			7											39.0	38.0	38.0					7																	57188819		1783	4028	5811	57192761	SO:0001819	synonymous_variant	90827			AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.303G>A	7.37:g.57188819C>T			57192761		Silent	SNP	superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2	p.Q101	ENST00000331162.4	37	c.303	CCDS43590.1	7																																																																																			-	NULL		0.368	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF479	protein_coding	OTTHUMT00000345302.1	C	XM_291202		57192761	-1	no_errors	NM_033273	genbank	human	provisional	54_36p	silent	SNP	0.000	T
SLCO4A1	28231	genome.wustl.edu	37	20	61303264	61303264	+	3'UTR	SNP	C	C	T	rs118129127	byFrequency	TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr20:61303264C>T	ENST00000370507.1	+	0	2284				SLCO4A1_ENST00000217159.1_3'UTR			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1						sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	CGCGCCCACCCGGCCACGGCG	0.587													C|||	137	0.0273562	0.0045	0.0216	5008	,	,		17173	0.001		0.0716	False		,,,				2504	0.044				Pancreas(168;741 2006 10379 40139 45334)											0			20						C		67,4339	61.1+/-98.1	1,65,2137	39.0	41.0	41.0			-5.3	0.0	20	dbSNP_132	41	570,8026	150.7+/-205.6	18,534,3746	no	utr-3	SLCO4A1	NM_016354.3		19,599,5883	TT,TC,CC		6.631,1.5207,4.8992			61303264	637,12365	2203	4298	6501	60773709	SO:0001624	3_prime_UTR_variant	28231			AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"""Solute carriers"""	10953	protein-coding gene	gene with protein product		612436	"""solute carrier family 21 (organic anion transporter), member 12"""	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.*19C>T	20.37:g.61303264C>T			60773709	Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Silent	SNP	HMMPfam_OATP,superfamily_MFS general substrate transporter,superfamily_Kazal-type serine protease inhibitors,HMMPfam_Kazal_2	p.P550	ENST00000370507.1	37	c.1650	CCDS13501.1	20																																																																																			-	NULL		0.587	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO4A1	protein_coding	OTTHUMT00000080048.2	C	NM_016354		60773709	+1	no_errors	ENST00000342674	ensembl	human	known	54_36p	silent	SNP	0.014	T
HTR1A	3350	genome.wustl.edu	37	5	63257156	63257156	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr5:63257156C>T	ENST00000323865.3	-	1	624	c.391G>A	c.(391-393)Gcg>Acg	p.A131T	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	131					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CTGTCCAGCGCGATGGCGCAC	0.622																																																0			5											67.0	64.0	65.0					5																	63257156		2203	4300	6503	63292912	SO:0001583	missense	3350			AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.391G>A	5.37:g.63257156C>T	ENSP00000316244:p.Ala131Thr		63292912	Q6LAE7	Missense_Mutation	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.A131T	ENST00000323865.3	37	c.391	CCDS34168.1	5	.	.	.	.	.	.	.	.	.	.	C	32	5.112021	0.94339	.	.	ENSG00000178394	ENST00000323865	T	0.76186	-1.0	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.90013	0.6882	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92467	0.5982	10	0.87932	D	0	.	18.0729	0.89417	0.0:1.0:0.0:0.0	.	131	P08908	5HT1A_HUMAN	T	131	ENSP00000316244:A131T	ENSP00000316244:A131T	A	-	1	0	HTR1A	63292912	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.509000	0.84616	0.561000	0.74099	GCG	-	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1		0.622	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1A	protein_coding	OTTHUMT00000368397.1	C	NM_000524		63292912	-1	no_errors	NM_000524	genbank	human	validated	54_36p	missense	SNP	1.000	T
B3GNT1	11041	genome.wustl.edu	37	11	66114029	66114029	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr11:66114029C>T	ENST00000311181.4	-	1	1134	c.988G>A	c.(988-990)Gtg>Atg	p.V330M	RP11-867G23.8_ENST00000531602.1_5'Flank|BRMS1_ENST00000425825.2_5'Flank|BRMS1_ENST00000359957.3_5'Flank	NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1	330					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|poly-N-acetyllactosamine biosynthetic process (GO:0030311)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity (GO:0008532)			breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						CCTCCTGCCACGTAGAATGGC	0.627																																																0			11											67.0	72.0	70.0					11																	66114029		2200	4294	6494	65870605	SO:0001583	missense	10678			AF029893	CCDS8136.1	11q13.2	2014-07-08	2006-04-12	2006-04-12	ENSG00000174684	ENSG00000174684	2.4.1.149	"""Beta 3-glycosyltransferases"""	15685	protein-coding gene	gene with protein product	"""N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase"""	605517	"""UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6"""	B3GNT6		9405606	Standard	NM_006876		Approved	iGNT, iGAT, iGnT, BETA3GNTI, B3GN-T1	uc001ohr.3	O43505	OTTHUMG00000167082	ENST00000311181.4:c.988G>A	11.37:g.66114029C>T	ENSP00000309096:p.Val330Met		65870605	Q4TTN0	Missense_Mutation	SNP	NULL	p.V330M	ENST00000311181.4	37	c.988	CCDS8136.1	11	.	.	.	.	.	.	.	.	.	.	C	17.23	3.336227	0.60963	.	.	ENSG00000174684	ENST00000311181;ENST00000538757	T	0.30448	1.53	5.83	5.83	0.93111	.	0.072297	0.64402	D	0.000016	T	0.50343	0.1610	M	0.70595	2.14	0.43467	D	0.995677	D	0.76494	0.999	D	0.64042	0.921	T	0.50676	-0.8800	10	0.62326	D	0.03	-33.3921	10.9633	0.47397	0.0:0.9152:0.0:0.0848	.	330	O43505	B3GN1_HUMAN	M	330;101	ENSP00000309096:V330M	ENSP00000309096:V330M	V	-	1	0	B3GNT1	65870605	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.713000	0.47194	2.761000	0.94854	0.563000	0.77884	GTG	-	NULL		0.627	B3GNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GNT1	protein_coding	OTTHUMT00000392959.1	C	NM_006876		65870605	-1	no_errors	NM_006876	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
TMPRSS11F	389208	genome.wustl.edu	37	4	68938039	68938039	+	Splice_Site	SNP	A	A	C			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr4:68938039A>C	ENST00000356291.2	-	5	574		c.e5+1		UBA6-AS1_ENST00000499180.2_RNA|UBA6-AS1_ENST00000511571.1_RNA|UBA6-AS1_ENST00000500538.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F							extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						TAAAAGACTTACGTGTGAGTC	0.269																																																0			4											67.0	69.0	68.0					4																	68938039		2203	4297	6500	68620634	SO:0001630	splice_region_variant	389208			AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"""Serine peptidases / Transmembrane"""	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.514+1T>G	4.37:g.68938039A>C			68620634	A8MXX2	Splice_Site	SNP	-	e5+2	ENST00000356291.2	37	c.514+2	CCDS3520.1	4	.	.	.	.	.	.	.	.	.	.	A	16.04	3.010999	0.54361	.	.	ENSG00000198092	ENST00000356291	.	.	.	6.06	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1542	0.31158	0.9131:0.0:0.0869:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMPRSS11F	68620634	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	2.727000	0.47311	2.323000	0.78572	0.528000	0.53228	.	-	-		0.269	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS11F	protein_coding	OTTHUMT00000251439.1	A	NM_207407	Intron	68620634	-1	no_errors	NM_207407	genbank	human	validated	54_36p	splice_site	SNP	0.997	C
SHANK2	22941	genome.wustl.edu	37	11	70332558	70332558	+	Silent	SNP	G	G	A			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr11:70332558G>A	ENST00000423696.2	-	15	2739	c.2703C>T	c.(2701-2703)aaC>aaT	p.N901N	SHANK2_ENST00000409161.1_Silent_p.N684N|SHANK2_ENST00000449833.2_Silent_p.N685N|SHANK2_ENST00000338508.4_Silent_p.N1281N			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	901					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TCTCGTACTTGTTCTCCGTCT	0.597																																																0			11											96.0	96.0	96.0					11																	70332558		2200	4294	6494	70010206	SO:0001819	synonymous_variant	22941			AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.2703C>T	11.37:g.70332558G>A			70010206	C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Silent	SNP	superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ,superfamily_SAM_homology,HMMSmart_SAM,HMMPfam_SAM_1	p.N685	ENST00000423696.2	37	c.2055		11																																																																																			-	NULL		0.597	SHANK2-203	KNOWN	basic	protein_coding	SHANK2	protein_coding		G	NM_012309		70010206	-1	no_errors	NM_012309	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
MUC7	4589	genome.wustl.edu	37	4	71347281	71347281	+	Missense_Mutation	SNP	G	G	A	rs145010129	byFrequency	TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr4:71347281G>A	ENST00000304887.5	+	3	1010	c.820G>A	c.(820-822)Gcc>Acc	p.A274T	MUC7_ENST00000456088.1_Missense_Mutation_p.A274T|MUC7_ENST00000413702.1_Missense_Mutation_p.A274T	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	274	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CCCATCATCCGCCTCAGCTCC	0.592													T|||	26	0.00519169	0.0189	0.0014	5008	,	,		19671	0.0		0.0	False		,,,				2504	0.0															0			4						G	THR/ALA,THR/ALA,THR/ALA	56,4342		1,54,2144	464.0	412.0	429.0		820,820,820	-2.0	0.0	4	dbSNP_134	429	1,8599		0,1,4299	yes	missense,missense,missense	MUC7	NM_152291.2,NM_001145007.1,NM_001145006.1	58,58,58	1,55,6443	AA,AG,GG		0.0116,1.2733,0.4385	benign,benign,benign	274/378,274/378,274/378	71347281	57,12941	2199	4300	6499	71381870	SO:0001583	missense	4589			BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.820G>A	4.37:g.71347281G>A	ENSP00000302021:p.Ala274Thr		71381870	Q9UCD7|Q9UCD8	Missense_Mutation	SNP	NULL	p.A274T	ENST00000304887.5	37	c.820	CCDS3541.1	4	5	0.0022893772893772895	4	0.008130081300813009	1	0.0027624309392265192	0	0.0	0	0.0	T	7.111	0.575934	0.13623	0.012733	1.16E-4	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.54675	0.56;0.56;0.56	1.24	-2.04	0.07343	.	.	.	.	.	T	0.17534	0.0421	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.14172	-1.0482	8	.	.	.	.	3.6927	0.08353	0.2119:0.0:0.5025:0.2855	.	274	Q8TAX7	MUC7_HUMAN	T	274	ENSP00000407422:A274T;ENSP00000400585:A274T;ENSP00000302021:A274T	.	A	+	1	0	MUC7	71381870	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.198000	0.09505	-0.547000	0.06207	-1.973000	0.00462	GCC	-	NULL		0.592	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC7	protein_coding	OTTHUMT00000252168.2	G	NM_152291		71381870	+1	no_errors	NM_152291	genbank	human	reviewed	54_36p	missense	SNP	0.000	A
Unknown	0	genome.wustl.edu	37	3	75720140	75720140	+	IGR	SNP	G	G	A	rs111776351		TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr3:75720140G>A								FRG2C (3769 upstream) : LINC00960 (3423 downstream)																							TGGGTGCCCAGTGCGGGCTAA	0.592																																																0			3																																								75802830	SO:0001628	intergenic_variant	401074																															3.37:g.75720140G>A			75802830		Missense_Mutation	SNP	NULL	p.V39M		37	c.115		3																																																																																			-	NULL	0	0.592					LOC401074			G			75802830	+1	no_errors	XM_001714392	genbank	human	model	54_36p	missense	SNP	0.000	A
SH3GL3	6457	genome.wustl.edu	37	15	84237359	84237359	+	Missense_Mutation	SNP	C	C	T	rs201410848		TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr15:84237359C>T	ENST00000427482.2	+	4	572	c.266C>T	c.(265-267)aCg>aTg	p.T89M	SH3GL3_ENST00000434347.1_Missense_Mutation_p.T97M|SH3GL3_ENST00000324537.5_Missense_Mutation_p.T97M|SH3GL3_ENST00000535412.1_Missense_Mutation_p.T89M	NM_003027.3	NP_003018.3	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	89	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						TACCCGCAGACGGAAGGCTTG	0.507													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16509	0.0		0.0	False		,,,				2504	0.0															0			15											83.0	83.0	83.0					15																	84237359		2203	4300	6503	82028363	SO:0001583	missense	6457			AF036271	CCDS10325.2, CCDS73772.1	15q24	2006-11-24			ENSG00000140600	ENSG00000140600			10832	protein-coding gene	gene with protein product		603362				9169142	Standard	NR_026799		Approved	SH3D2C, SH3P13, CNSA3, EEN-B2, HsT19371	uc002bjw.3	Q99963	OTTHUMG00000147361	ENST00000427482.2:c.266C>T	15.37:g.84237359C>T	ENSP00000391372:p.Thr89Met		82028363	O43553|O43554	Missense_Mutation	SNP	HMMSmart_BAR,HMMPfam_BAR,superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3	p.T97M	ENST00000427482.2	37	c.290	CCDS10325.2	15	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	23.6	4.433110	0.83776	.	.	ENSG00000140600	ENST00000427482;ENST00000535412;ENST00000324537;ENST00000434347	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	4.86	4.86	0.63082	BAR (3);	0.107920	0.64402	D	0.000007	T	0.78130	0.4235	M	0.75264	2.295	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.68943	0.927;0.961;0.954	T	0.78984	-0.1988	10	0.45353	T	0.12	-26.0409	17.3782	0.87398	0.0:1.0:0.0:0.0	.	89;89;97	Q8IVP1;Q99963;Q99963-3	.;SH3G3_HUMAN;.	M	89;89;97;97	ENSP00000391372:T89M;ENSP00000439239:T89M;ENSP00000320092:T97M;ENSP00000397871:T97M	ENSP00000320092:T97M	T	+	2	0	SH3GL3	82028363	1.000000	0.71417	0.896000	0.35187	0.902000	0.53008	7.445000	0.80570	2.402000	0.81655	0.544000	0.68410	ACG	-	HMMSmart_BAR,HMMPfam_BAR		0.507	SH3GL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3GL3	protein_coding	OTTHUMT00000347797.1	C	NM_003027		82028363	+1	no_errors	NM_003027	genbank	human	validated	54_36p	missense	SNP	0.997	T
DCAF4L2	138009	genome.wustl.edu	37	8	88886089	88886089	+	Silent	SNP	G	G	A			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr8:88886089G>A	ENST00000319675.3	-	1	207	c.111C>T	c.(109-111)ctC>ctT	p.L37L		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	37										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TGGCGAATCTGAGGAAACCTA	0.507																																																0			8											88.0	80.0	82.0					8																	88886089		2203	4300	6503	88955205	SO:0001819	synonymous_variant	138009			AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.111C>T	8.37:g.88886089G>A			88955205		Silent	SNP	PatternScan_WD_REPEATS_1,superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40	p.L37	ENST00000319675.3	37	c.111	CCDS6245.1	8																																																																																			-	superfamily_WD40_like		0.507	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR21C	protein_coding	OTTHUMT00000375302.1	G	NM_152418		88955205	-1	no_errors	NM_152418	genbank	human	validated	54_36p	silent	SNP	0.032	A
AMOTL1	154810	genome.wustl.edu	37	11	94532609	94532609	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr11:94532609G>T	ENST00000433060.2	+	3	394	c.253G>T	c.(253-255)Gtg>Ttg	p.V85L	AMOTL1_ENST00000317829.8_Missense_Mutation_p.V35L|AMOTL1_ENST00000317837.9_Missense_Mutation_p.V85L	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	85					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				GATCTCAGAGGTGGAAATGAG	0.483																																																0			11											32.0	30.0	31.0					11																	94532609		1896	4122	6018	94172257	SO:0001583	missense	154810			AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.253G>T	11.37:g.94532609G>T	ENSP00000387739:p.Val85Leu		94172257	Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	NULL	p.V85L	ENST00000433060.2	37	c.253	CCDS44712.1	11	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104513	0.56291	.	.	ENSG00000166025	ENST00000299004;ENST00000317829;ENST00000542840;ENST00000317837;ENST00000433060	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	4.66	4.66	0.58398	.	0.113259	0.37530	N	0.002050	T	0.44201	0.1282	L	0.38175	1.15	0.54753	D	0.999986	D;P	0.53151	0.958;0.93	P;P	0.49332	0.607;0.504	T	0.41197	-0.9522	10	0.46703	T	0.11	-17.6641	17.1639	0.86810	0.0:0.0:1.0:0.0	.	35;85	Q8IY63-2;Q8IY63	.;AMOL1_HUMAN	L	114;35;91;85;85	ENSP00000299004:V114L;ENSP00000320968:V35L;ENSP00000323474:V85L;ENSP00000387739:V85L	ENSP00000299004:V114L	V	+	1	0	AMOTL1	94172257	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.659000	0.46741	2.145000	0.66743	0.555000	0.69702	GTG	-	NULL		0.483	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMOTL1	protein_coding	OTTHUMT00000396474.3	G	NM_130847		94172257	+1	no_errors	NM_130847	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
UNG	7374	genome.wustl.edu	37	12	109537068	109537068	+	Silent	SNP	C	C	G			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr12:109537068C>G	ENST00000242576.2	+	3	520	c.414C>G	c.(412-414)acC>acG	p.T138T	UNG_ENST00000336865.2_Silent_p.T129T	NM_080911.2	NP_550433.1			uracil-DNA glycosylase											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						TCACCTGGACCCAGATGTGTG	0.358								Base excision repair (BER), DNA glycosylases	Immune Deficiency with Hyper-IgM																																							0			12											80.0	78.0	79.0					12																	109537068		2203	4300	6503	108021451	SO:0001819	synonymous_variant	7374	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	A64377	CCDS9124.1, CCDS9125.1	12q23-q24.1	2014-09-17			ENSG00000076248	ENSG00000076248	3.2.2.27		12572	protein-coding gene	gene with protein product	"""uracil-DNA glycosylase 1, uracil-DNA glycosylase 2"""	191525		DGU		1923798, 17101234	Standard	NM_080911		Approved	UDG, UNG1, UNG2, HIGM4	uc001tnz.2	P13051	OTTHUMG00000169247	ENST00000242576.2:c.414C>G	12.37:g.109537068C>G			108021451		Silent	SNP	superfamily_DNA glycosylase,HMMPfam_UDG,PatternScan_U_DNA_GLYCOSYLASE	p.T138	ENST00000242576.2	37	c.414	CCDS9124.1	12																																																																																			-	superfamily_DNA glycosylase		0.358	UNG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UNG	protein_coding	OTTHUMT00000403067.1	C	NM_080911		108021451	+1	no_errors	NM_080911	genbank	human	reviewed	54_36p	silent	SNP	0.991	G
MVK	4598	genome.wustl.edu	37	12	110013871	110013871	+	Silent	SNP	G	G	A	rs104895327		TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr12:110013871G>A	ENST00000228510.3	+	3	223	c.147G>A	c.(145-147)gtG>gtA	p.V49V	MVK_ENST00000535044.1_3'UTR|MMAB_ENST00000266839.5_5'Flank|MMAB_ENST00000540016.1_5'Flank|MMAB_ENST00000545712.2_5'Flank|MVK_ENST00000392727.3_Silent_p.V49V|MVK_ENST00000539696.1_Intron|MVK_ENST00000541384.1_5'UTR|MVK_ENST00000539575.1_Silent_p.V49V	NM_000431.2|NM_001114185.1	NP_000422.1|NP_001107657.1	Q03426	KIME_HUMAN	mevalonate kinase	49					cholesterol biosynthetic process (GO:0006695)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|negative regulation of inflammatory response (GO:0050728)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|mevalonate kinase activity (GO:0004496)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						ATGGGAAAGTGGACCTCAGCT	0.498																																																0			12											89.0	80.0	83.0					12																	110013871		2203	4300	6503	108498254	SO:0001819	synonymous_variant	4598			M88468	CCDS9132.1, CCDS73522.1	12q24	2014-09-17	2008-01-30		ENSG00000110921	ENSG00000110921	2.7.1.36		7530	protein-coding gene	gene with protein product	"""LH receptor mRNA-binding protein"", ""mevalonic aciduria"""	251170	"""mevalonate kinase (mevalonic aciduria)"""			1377680	Standard	XM_005253883		Approved	LRBP, MK	uc001toy.4	Q03426	OTTHUMG00000169256	ENST00000228510.3:c.147G>A	12.37:g.110013871G>A			108498254		Silent	SNP	superfamily_Ribosomal protein S5 domain 2-like,HMMPfam_GHMP_kinases_N,PatternScan_GHMP_KINASES_ATP,superfamily_GHMP Kinase C-terminal domain,HMMPfam_GHMP_kinases_C	p.V49	ENST00000228510.3	37	c.147	CCDS9132.1	12																																																																																			-	superfamily_Ribosomal protein S5 domain 2-like		0.498	MVK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MVK	protein_coding	OTTHUMT00000403143.1	G	NM_000431		108498254	+1	no_errors	NM_000431	genbank	human	reviewed	54_36p	silent	SNP	0.070	A
SH3RF3	344558	genome.wustl.edu	37	2	110065917	110065917	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr2:110065917G>A	ENST00000309415.6	+	8	2120	c.2120G>A	c.(2119-2121)tGc>tAc	p.C707Y		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	707							zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						AACACGGGATGCAAACTAGAC	0.577																																																0			2											37.0	41.0	39.0					2																	110065917		1972	4155	6127	109432349	SO:0001583	missense	344558			AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"""RING-type (C3HC4) zinc fingers"""	24699	protein-coding gene	gene with protein product			"""SH3 multiple domains 4"""	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.2120G>A	2.37:g.110065917G>A	ENSP00000309186:p.Cys707Tyr		109432349	A0SDZ7|A8MPR1|Q8NDU1	Missense_Mutation	SNP	superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326	p.C707Y	ENST00000309415.6	37	c.2120		2	.	.	.	.	.	.	.	.	.	.	G	0	-2.736975	0.00088	.	.	ENSG00000172985	ENST00000418513;ENST00000309415	T;T	0.58652	0.32;2.13	4.9	1.11	0.20524	.	0.482456	0.25789	N	0.028293	T	0.26159	0.0638	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.26950	-1.0088	9	0.02654	T	1	-6.0234	6.0763	0.19917	0.2144:0.0:0.6529:0.1327	.	707	Q8TEJ3	SH3R3_HUMAN	Y	707	ENSP00000414997:C707Y;ENSP00000309186:C707Y	ENSP00000309186:C707Y	C	+	2	0	SH3RF3	109432349	0.981000	0.34729	0.001000	0.08648	0.005000	0.04900	1.714000	0.37961	0.024000	0.15214	-0.136000	0.14681	TGC	-	NULL		0.577	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	SH3RF3	protein_coding		G	NM_001099289		109432349	+1	no_stop_codon	NM_001099289	genbank	human	provisional	54_36p	missense	SNP	0.099	A
GNAI3	2773	genome.wustl.edu	37	1	110125089	110125089	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr1:110125089G>T	ENST00000369851.4	+	5	602	c.492G>T	c.(490-492)caG>caT	p.Q164H		NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3	164					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|negative regulation of adenylate cyclase activity (GO:0007194)|platelet activation (GO:0030168)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle fusion (GO:0006906)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|plasma membrane (GO:0005886)|zymogen granule (GO:0042588)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		GAATATCCCAGTCTAACTACA	0.373																																																0			1											114.0	108.0	110.0					1																	110125089		2203	4300	6503	109926612	SO:0001583	missense	2773			M27543	CCDS802.1	1p13	2012-10-02			ENSG00000065135	ENSG00000065135			4387	protein-coding gene	gene with protein product		139370				3109953	Standard	NM_006496		Approved	87U6	uc001dxz.3	P08754	OTTHUMG00000011648	ENST00000369851.4:c.492G>T	1.37:g.110125089G>T	ENSP00000358867:p.Gln164His		109926612	P17539|Q5TZX1	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_G-alpha,HMMSmart_SM00275,superfamily_Transducin (alpha subunit) insertion domain	p.Q164H	ENST00000369851.4	37	c.492	CCDS802.1	1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.390863	0.42410	.	.	ENSG00000065135	ENST00000369851	D	0.89050	-2.46	5.92	3.51	0.40186	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	T	0.80964	0.4725	M	0.79614	2.46	0.58432	D	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.77335	-0.2626	10	0.56958	D	0.05	.	8.1553	0.31165	0.7118:0.0:0.2882:0.0	.	164	P08754	GNAI3_HUMAN	H	164	ENSP00000358867:Q164H	ENSP00000358867:Q164H	Q	+	3	2	GNAI3	109926612	0.991000	0.36638	0.988000	0.46212	0.923000	0.55619	2.434000	0.44802	0.496000	0.27904	-0.290000	0.09829	CAG	-	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_G-alpha,HMMSmart_SM00275,superfamily_Transducin (alpha subunit) insertion domain		0.373	GNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAI3	protein_coding	OTTHUMT00000032222.1	G	NM_006496		109926612	+1	no_errors	NM_006496	genbank	human	validated	54_36p	missense	SNP	0.995	T
snoU13	0	genome.wustl.edu	37	2	115038721	115038721	+	RNA	SNP	C	C	A			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr2:115038721C>A	ENST00000458817.1	-	0	31																											catgaacacccgatcatctat	0.363																																																0			2																																								114755191			0																															2.37:g.115038721C>A			114755191		RNA	SNP	-	NULL	ENST00000458817.1	37	NULL		2																																																																																			-	-		0.363	snoU13.110-201	NOVEL	basic	snoRNA	ENSG00000208615	snoRNA		C			114755191	-1	pseudogene	ENST00000385880	ensembl	human	novel	54_36p	rna	SNP	0.014	A
HMBS	3145	genome.wustl.edu	37	11	118960702	118960702	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr11:118960702G>A	ENST00000278715.3	+	7	498	c.347G>A	c.(346-348)cGg>cAg	p.R116Q	HMBS_ENST00000544387.1_Missense_Mutation_p.R116Q|HMBS_ENST00000392841.1_Missense_Mutation_p.R99Q|HMBS_ENST00000543090.1_Missense_Mutation_p.R98Q|HMBS_ENST00000534956.1_3'UTR|HMBS_ENST00000537841.1_Missense_Mutation_p.R99Q|HMBS_ENST00000542729.1_Missense_Mutation_p.R99Q|HMBS_ENST00000442944.2_Missense_Mutation_p.R99Q	NM_000190.3	NP_000181.2	P08397	HEM3_HUMAN	hydroxymethylbilane synthase	116			R -> Q (in AIP). {ECO:0000269|PubMed:8081367}.|R -> W (in AIP; loss of activity). {ECO:0000269|PubMed:10602775, ECO:0000269|PubMed:11030413, ECO:0000269|PubMed:7962538, ECO:0000269|PubMed:9225970}.		heme biosynthetic process (GO:0006783)|peptidyl-pyrromethane cofactor linkage (GO:0018160)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	hydroxymethylbilane synthase activity (GO:0004418)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		TCCCCCAGGCGGGAAAACCCT	0.493																																																0			11	GRCh37	CM940937	HMBS	M							84.0	89.0	87.0					11																	118960702		2200	4295	6495	118465912	SO:0001583	missense	3145			X04808	CCDS8409.1, CCDS41726.1, CCDS58186.1, CCDS58187.1	11q23.3	2013-07-10			ENSG00000256269	ENSG00000256269	2.5.1.61		4982	protein-coding gene	gene with protein product		609806	"""uroporphyrinogen I synthase"", ""porphobilinogen deaminase"", ""porphyria, acute; Chester type"""	PBGD, UPS, PORC		8432552, 17298217	Standard	NM_001258208		Approved		uc001puz.1	P08397	OTTHUMG00000168295	ENST00000278715.3:c.347G>A	11.37:g.118960702G>A	ENSP00000278715:p.Arg116Gln		118465912	A8K2L0|G3V1P4|G5EA58|P08396|Q16012	Missense_Mutation	SNP	superfamily_Periplasmic binding protein-like II,HMMPfam_Porphobil_deam,superfamily_Porphobilinogen deaminase (hydroxymethylbilane synthase) C-terminal domain,HMMPfam_Porphobil_deamC,PatternScan_PORPHOBILINOGEN_DEAM	p.R116Q	ENST00000278715.3	37	c.347	CCDS8409.1	11	.	.	.	.	.	.	.	.	.	.	G	36	5.854238	0.97030	.	.	ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000149397	ENST00000278715;ENST00000536813;ENST00000537841;ENST00000542729;ENST00000546302;ENST00000544387;ENST00000543090;ENST00000539986;ENST00000535253;ENST00000392841;ENST00000442944	D;D;D;D;D;D;D;D;D;D;D	0.99891	-7.56;-7.56;-7.56;-7.56;-7.56;-7.56;-7.56;-7.56;-7.56;-7.56;-7.56	6.17	6.17	0.99709	Porphobilinogen deaminase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99937	0.9972	H	0.98594	4.275	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.999;0.999;0.999	D	0.96443	0.9328	10	0.87932	D	0	-23.9126	19.8676	0.96824	0.0:0.0:1.0:0.0	.	99;99;98;116;116	P08397-2;G3V1P4;F5H345;G5EA58;P08397	.;.;.;.;HEM3_HUMAN	Q	116;110;99;99;90;116;98;99;99;99;99	ENSP00000278715:R116Q;ENSP00000438726:R110Q;ENSP00000444730:R99Q;ENSP00000443058:R99Q;ENSP00000445599:R90Q;ENSP00000438424:R116Q;ENSP00000445429:R98Q;ENSP00000440092:R99Q;ENSP00000442079:R99Q;ENSP00000376584:R99Q;ENSP00000392041:R99Q	ENSP00000392041:R99Q	R	+	2	0	CTD-2589C9.4;HMBS	118465912	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	9.563000	0.98148	2.941000	0.99782	0.655000	0.94253	CGG	-	superfamily_Periplasmic binding protein-like II,HMMPfam_Porphobil_deam		0.493	HMBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMBS	protein_coding	OTTHUMT00000399188.1	G	NM_000190		118465912	+1	no_errors	NM_000190	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
VNN2	8875	genome.wustl.edu	37	6	133072587	133072587	+	Silent	SNP	A	A	G			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr6:133072587A>G	ENST00000326499.6	-	5	1021	c.897T>C	c.(895-897)ctT>ctC	p.L299L	VNN2_ENST00000526192.1_5'Flank|VNN2_ENST00000525289.1_Intron|VNN2_ENST00000525270.1_Silent_p.L246L|RP1-55C23.7_ENST00000430895.1_RNA	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	299	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		CTGAAAGGAGAAGTTTTCCCA	0.433																																																0			6											73.0	72.0	72.0					6																	133072587		2201	4286	6487	133114280	SO:0001819	synonymous_variant	8875			AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"""Vanins"""	12706	protein-coding gene	gene with protein product	"""pantetheinase"""	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.897T>C	6.37:g.133072587A>G			133114280	A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Silent	SNP	superfamily_Ntlse/CNhydtse,HMMPfam_CN_hydrolase	p.L299	ENST00000326499.6	37	c.897	CCDS5161.1	6																																																																																			-	superfamily_Ntlse/CNhydtse		0.433	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VNN2	protein_coding	OTTHUMT00000042264.2	A			133114280	-1	no_errors	NM_004665	genbank	human	reviewed	54_36p	silent	SNP	0.011	G
TMEM71	137835	genome.wustl.edu	37	8	133764201	133764201	+	Silent	SNP	G	G	A			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr8:133764201G>A	ENST00000356838.3	-	4	286	c.144C>T	c.(142-144)tgC>tgT	p.C48C	TMEM71_ENST00000517538.1_5'UTR|TMEM71_ENST00000377901.4_Silent_p.C48C|TMEM71_ENST00000523829.1_Silent_p.C48C	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	48						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			CTATGGAGCCGCATTCAAAAG	0.453																																																0			8											78.0	78.0	78.0					8																	133764201		2203	4300	6503	133833383	SO:0001819	synonymous_variant	137835			AK057631	CCDS6366.1, CCDS47921.1	8q24.22	2005-09-02				ENSG00000165071			26572	protein-coding gene	gene with protein product						12477932	Standard	NM_144649		Approved	FLJ33069	uc003ytn.3	Q6P5X7		ENST00000356838.3:c.144C>T	8.37:g.133764201G>A			133833383	Q3KRC2|Q8WVZ4|Q96LX9	Silent	SNP	NULL	p.C48	ENST00000356838.3	37	c.144	CCDS6366.1	8																																																																																			-	NULL		0.453	TMEM71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM71	protein_coding	OTTHUMT00000379591.1	G	NM_144649		133833383	-1	no_errors	NM_144649	genbank	human	validated	54_36p	silent	SNP	0.997	A
COL5A1	1289	genome.wustl.edu	37	9	137726961	137726961	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr9:137726961G>T	ENST00000371817.3	+	65	5695	c.5281G>T	c.(5281-5283)Gac>Tac	p.D1761Y		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1761	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGGCAGCTACGACAAGGCCCT	0.632																																																0			9											85.0	66.0	73.0					9																	137726961		2203	4300	6503	136866782	SO:0001583	missense	1289			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.5281G>T	9.37:g.137726961G>T	ENSP00000360882:p.Asp1761Tyr		136866782	Q15094|Q5SUX4	Missense_Mutation	SNP	HMMSmart_TSPN,superfamily_ConA_like_lec_gl,HMMSmart_LamG,HMMPfam_Laminin_G_2,HMMPfam_Collagen,HMMSmart_COLFI,HMMPfam_COLFI	p.D1761Y	ENST00000371817.3	37	c.5281	CCDS6982.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.71|18.71	3.681446|3.681446	0.68042|0.68042	.|.	.|.	ENSG00000130635|ENSG00000130635	ENST00000371817;ENST00000355306|ENST00000371820	T|.	0.74526|.	-0.85|.	5.03|5.03	5.03|5.03	0.67393|0.67393	Fibrillar collagen, C-terminal (4);|.	0.000000|.	0.64402|.	U|.	0.000001|.	D|D	0.83321|0.83321	0.5229|0.5229	M|M	0.87180|0.87180	2.865|2.865	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.89917|.	1.0|.	D|.	0.77004|.	0.989|.	D|D	0.85959|0.85959	0.1469|0.1469	10|5	0.87932|.	D|.	0|.	.|.	18.3643|18.3643	0.90385|0.90385	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1761|.	P20908|.	CO5A1_HUMAN|.	Y|L	1761;298|180	ENSP00000360882:D1761Y|.	ENSP00000347458:D298Y|.	D|R	+|+	1|2	0|0	COL5A1|COL5A1	136866782|136866782	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.659000|9.659000	0.98597|0.98597	2.340000|2.340000	0.79590|0.79590	0.561000|0.561000	0.74099|0.74099	GAC|CGA	-	HMMSmart_COLFI,HMMPfam_COLFI		0.632	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A1	protein_coding	OTTHUMT00000054954.2	G	NM_000093		136866782	+1	no_errors	NM_000093	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
PCDHA4	56144	genome.wustl.edu	37	5	140187503	140187503	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr5:140187503G>A	ENST00000530339.1	+	1	731	c.731G>A	c.(730-732)aGa>aAa	p.R244K	PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.R244K|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.R244K|PCDHA3_ENST00000522353.2_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	244	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTTTGACAGAACCATTTAT	0.433																																																0			5											59.0	59.0	59.0					5																	140187503		2203	4300	6503	140167687	SO:0001583	missense	56144			AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.731G>A	5.37:g.140187503G>A	ENSP00000435300:p.Arg244Lys		140167687	O75285|Q2M253	Missense_Mutation	SNP	superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin	p.R244K	ENST00000530339.1	37	c.731	CCDS54916.1	5	.	.	.	.	.	.	.	.	.	.	g	0.470	-0.884876	0.02511	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.60424	0.19;0.19;0.19	4.34	0.297	0.15762	Cadherin (3);Cadherin-like (1);	0.514958	0.16029	N	0.232963	T	0.27798	0.0684	N	0.01729	-0.75	0.09310	N	1	B;B;B	0.10296	0.001;0.003;0.003	B;B;B	0.12156	0.005;0.007;0.003	T	0.19976	-1.0289	10	0.34782	T	0.22	.	10.03	0.42094	0.5855:0.0:0.4145:0.0	.	244;244;244	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	K	244	ENSP00000423470:R244K;ENSP00000349344:R244K;ENSP00000435300:R244K	ENSP00000349344:R244K	R	+	2	0	PCDHA4	140167687	0.000000	0.05858	0.008000	0.14137	0.401000	0.30781	0.811000	0.27198	-0.184000	0.10567	0.467000	0.42956	AGA	-	superfamily_Cadherin-like		0.433	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA4	protein_coding	OTTHUMT00000372864.2	G	NM_018907		140167687	+1	no_errors	NM_018907	genbank	human	reviewed	54_36p	missense	SNP	0.107	A
PCDHB17	54661	genome.wustl.edu	37	5	140537885	140537885	+	3'UTR	SNP	G	G	A	rs151003300	byFrequency	TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr5:140537885G>A	ENST00000539533.1	+	0	2309									protocadherin beta 17 pseudogene																		TTCTTAAACCGGTACTTCCCA	0.478													G|||	70	0.0139776	0.0287	0.0144	5008	,	,		18950	0.0		0.0209	False		,,,				2504	0.001															0			5																																								140518069	SO:0001624	3_prime_UTR_variant	54661			AF152527		5q31	2010-01-26				ENSG00000255622		"""Cadherins / Protocadherins : Clustered"""	14547	pseudogene	pseudogene						10380929	Standard	NR_001280		Approved	PCDH-psi1	uc003lis.3			ENST00000539533.1:c.*545G>A	5.37:g.140537885G>A			140518069		RNA	SNP	-	NULL	ENST00000539533.1	37	NULL		5																																																																																			-	-		0.478	PCDHB17-201	KNOWN	basic|appris_principal	protein_coding	PCDHB17	protein_coding		G			140518069	+1	pseudogene	NR_001280	genbank	human	provisional	54_36p	rna	SNP	0.000	A
UST	10090	genome.wustl.edu	37	6	149285835	149285835	+	Intron	SNP	C	C	T			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr6:149285835C>T	ENST00000367463.4	+	5	784				RP11-162J8.2_ENST00000413845.1_RNA	NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase						carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		AGGGTGCTTCCGCAGGAAGGA	0.552																																																0			6																																								149327528	SO:0001627	intron_variant	100128176			AB020316	CCDS5213.1	6q25.1	2008-02-05			ENSG00000111962	ENSG00000111962		"""Sulfotransferases, membrane-bound"""	17223	protein-coding gene	gene with protein product		610752				10187838	Standard	NM_005715		Approved	2OST	uc003qmg.3	Q9Y2C2	OTTHUMG00000016135	ENST00000367463.4:c.681+136C>T	6.37:g.149285835C>T			149327528	B2RCX6	Missense_Mutation	SNP	NULL	p.R215Q	ENST00000367463.4	37	c.644	CCDS5213.1	6																																																																																			-	NULL		0.552	UST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100128176	protein_coding	OTTHUMT00000043363.1	C	NM_005715		149327528	-1	no_errors	XM_001718081	genbank	human	model	54_36p	missense	SNP	0.000	T
OPN1LW	5956	genome.wustl.edu	37	X	153421876	153421876	+	Nonsense_Mutation	SNP	C	C	A	rs191331006		TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chrX:153421876C>A	ENST00000369951.4	+	5	912	c.852C>A	c.(850-852)taC>taA	p.Y284*		NM_020061.4	NP_064445.2	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	284					phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGGACCCTACACCTTCTTCG	0.552																																																0			X											470.0	384.0	413.0					X																	153421876		2196	4270	6466	153075070	SO:0001587	stop_gained	5956			Z68193	CCDS14742.1	Xq28	2013-01-08	2008-04-16		ENSG00000102076	ENSG00000102076		"""GPCR / Class A : Opsin receptors"""	9936	protein-coding gene	gene with protein product	"""cone dystrophy 5 (X-linked)"""	300822	"""color blindness, protan"", ""red cone photoreceptor pigment"""	CBBM, RCP, CBP			Standard	NM_020061		Approved	COD5	uc004fjz.4	P04000	OTTHUMG00000034295	ENST00000369951.4:c.852C>A	X.37:g.153421876C>A	ENSP00000358967:p.Tyr284*		153075070		Nonsense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,PatternScan_OPSIN	p.Y284*	ENST00000369951.4	37	c.852	CCDS14742.1	X	.	.	.	.	.	.	.	.	.	.	C	15.29	2.790721	0.50102	.	.	ENSG00000102076	ENST00000369951	.	.	.	4.57	1.14	0.20703	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.0429	0.19744	0.0:0.3528:0.0:0.6472	.	.	.	.	X	284	.	ENSP00000358967:Y284X	Y	+	3	2	OPN1LW	153075070	0.001000	0.12720	0.996000	0.52242	0.623000	0.37688	-0.028000	0.12350	0.300000	0.22699	0.436000	0.28706	TAC	-	superfamily_SSF81321,HMMPfam_7tm_1		0.552	OPN1LW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPN1LW	protein_coding	OTTHUMT00000082839.2	C	NM_020061		153075070	+1	no_errors	NM_020061	genbank	human	reviewed	54_36p	nonsense	SNP	0.983	A
DPM3	54344	genome.wustl.edu	37	1	155112492	155112492	+	Silent	SNP	C	C	T			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr1:155112492C>T	ENST00000341298.3	-	2	360	c.225G>A	c.(223-225)caG>caA	p.Q75Q	DPM3_ENST00000368400.4_Silent_p.Q75Q|DPM3_ENST00000368399.1_Silent_p.Q105Q			Q9P2X0	DPM3_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 3	75					C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan (GO:0018406)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)|regulation of protein stability (GO:0031647)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|mannosyltransferase complex (GO:0031501)|membrane (GO:0016020)				endometrium(2)	2	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			GTATCTGGCTCTGCAGCTCGC	0.647																																																0			1											46.0	50.0	49.0					1																	155112492		2203	4300	6503	153379116	SO:0001819	synonymous_variant	54344			AB028128	CCDS1094.1, CCDS1095.1	1q22	2013-02-26			ENSG00000179085	ENSG00000179085			3007	protein-coding gene	gene with protein product	"""DPM synthase complex subunit"""	605951				10835346	Standard	NM_018973		Approved	MGC34275, MGC125904, MGC125905	uc001fhm.3	Q9P2X0	OTTHUMG00000035335	ENST00000341298.3:c.225G>A	1.37:g.155112492C>T			153379116	Q5SR62|Q5SR63|Q9BXN4|Q9BXN5	Silent	SNP	HMMPfam_DPM3	p.Q105	ENST00000341298.3	37	c.315	CCDS1095.1	1																																																																																			-	HMMPfam_DPM3		0.647	DPM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DPM3	protein_coding	OTTHUMT00000085519.1	C	NM_153741		153379116	-1	no_errors	NM_018973	genbank	human	reviewed	54_36p	silent	SNP	0.860	T
P2RY1	5028	genome.wustl.edu	37	3	152554551	152554551	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr3:152554551C>T	ENST00000305097.3	+	1	1816	c.980C>T	c.(979-981)gCg>gTg	p.A327V	RP11-38P22.2_ENST00000460407.1_lincRNA	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	327					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)	p.A327V(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			TATTTCTTGGCGGGAGATACT	0.463																																																1	Substitution - Missense(1)	prostate(1)	3											61.0	65.0	64.0					3																	152554551		2203	4300	6503	154037241	SO:0001583	missense	5028			U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.980C>T	3.37:g.152554551C>T	ENSP00000304767:p.Ala327Val		154037241		Missense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.A327V	ENST00000305097.3	37	c.980	CCDS3169.1	3	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810925	0.70797	.	.	ENSG00000169860	ENST00000305097	T	0.24538	1.85	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.19525	0.0469	N	0.08118	0	0.80722	D	1	D	0.65815	0.995	P	0.52189	0.692	T	0.02444	-1.1158	10	0.02654	T	1	.	17.7371	0.88396	0.0:1.0:0.0:0.0	.	327	P47900	P2RY1_HUMAN	V	327	ENSP00000304767:A327V	ENSP00000304767:A327V	A	+	2	0	P2RY1	154037241	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	5.988000	0.70579	2.419000	0.82065	0.563000	0.77884	GCG	-	superfamily_SSF81321		0.463	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY1	protein_coding	OTTHUMT00000356943.1	C	NM_002563		154037241	+1	no_errors	NM_002563	genbank	human	reviewed	54_36p	missense	SNP	0.999	T
OR6K6	128371	genome.wustl.edu	37	1	158724893	158724893	+	Silent	SNP	C	C	T	rs141924378	byFrequency	TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr1:158724893C>T	ENST00000368144.2	+	1	384	c.288C>T	c.(286-288)ttC>ttT	p.F96F		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TCCTCTCCTTCCTGGAGATCT	0.493													C|||	3	0.000599042	0.0023	0.0	5008	,	,		22653	0.0		0.0	False		,,,				2504	0.0															0			1						C		14,4392	21.2+/-45.6	0,14,2189	142.0	142.0	142.0		288	3.6	1.0	1	dbSNP_134	142	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OR6K6	NM_001005184.1		0,15,6488	TT,TC,CC		0.0116,0.3177,0.1153		96/344	158724893	15,12991	2203	4300	6503	156991517	SO:0001819	synonymous_variant	128371			BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"""GPCR / Class A : Olfactory receptors"""	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.288C>T	1.37:g.158724893C>T			156991517	B9EIM8|Q5VUU9|Q6IFR4	Silent	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.F96	ENST00000368144.2	37	c.288	CCDS30904.1	1																																																																																			-	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1		0.493	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6K6	protein_coding	OTTHUMT00000059065.2	C	NM_001005184		156991517	+1	no_errors	NM_001005184	genbank	human	provisional	54_36p	silent	SNP	0.898	T
PLG	5340	genome.wustl.edu	37	6	161139758	161139758	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr6:161139758C>A	ENST00000308192.9	+	9	1047	c.984C>A	c.(982-984)gaC>gaA	p.D328E		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	328	Kringle 3. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GCAATCCTGACGGAAAAAGGG	0.463																																																0			6											75.0	77.0	76.0					6																	161139758		2203	4300	6503	161059748	SO:0001583	missense	5340			M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.984C>A	6.37:g.161139758C>A	ENSP00000308938:p.Asp328Glu		161059748	Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	HMMPfam_PAN_1,superfamily_SSF57414,HMMSmart_PAN_AP,superfamily_Kringle-like,HMMSmart_KR,HMMPfam_Kringle,PatternScan_KRINGLE_1,superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER	p.D328E	ENST00000308192.9	37	c.984	CCDS5279.1	6	.	.	.	.	.	.	.	.	.	.	C	17.44	3.390174	0.62066	.	.	ENSG00000122194	ENST00000308192	T	0.72394	-0.65	5.2	-2.98	0.05513	Kringle (4);Kringle-like fold (1);Kringle, conserved site (1);	0.173822	0.26688	U	0.023018	T	0.73401	0.3582	H	0.95294	3.65	0.50813	D	0.999897	P	0.38110	0.618	P	0.45610	0.487	T	0.79198	-0.1902	10	0.87932	D	0	.	11.4405	0.50094	0.0:0.4259:0.0:0.5741	.	328	P00747	PLMN_HUMAN	E	328	ENSP00000308938:D328E	ENSP00000308938:D328E	D	+	3	2	PLG	161059748	1.000000	0.71417	0.182000	0.23118	0.024000	0.10985	0.775000	0.26689	-0.352000	0.08237	-0.339000	0.08088	GAC	-	HMMSmart_KR,superfamily_Kringle-like,HMMPfam_Kringle,PatternScan_KRINGLE_1		0.463	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLG	protein_coding	OTTHUMT00000042959.2	C	NM_000301		161059748	+1	no_errors	NM_000301	genbank	human	validated	54_36p	missense	SNP	1.000	A
NUF2	83540	genome.wustl.edu	37	1	163317604	163317604	+	Silent	SNP	T	T	C			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr1:163317604T>C	ENST00000271452.3	+	12	1279	c.1000T>C	c.(1000-1002)Ttg>Ctg	p.L334L	NUF2_ENST00000367900.3_Silent_p.L334L|NUF2_ENST00000524800.1_Silent_p.L287L	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	334	Interaction with the N-terminus of NDC80.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					ACTGAAGAAATTGAAGACTGA	0.323																																																0			1											74.0	78.0	77.0					1																	163317604		2203	4300	6503	161584228	SO:0001819	synonymous_variant	83540			BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"""cancer/testis antigen 106"""	611772	"""cell division cycle associated 1"", ""NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"""	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.1000T>C	1.37:g.163317604T>C			161584228	Q8WU69|Q96HJ4|Q96Q78	Silent	SNP	HMMPfam_Nuf2	p.L334	ENST00000271452.3	37	c.1000	CCDS1245.1	1																																																																																			-	NULL		0.323	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NUF2	protein_coding	OTTHUMT00000082812.1	T	NM_145697		161584228	+1	no_errors	NM_031423	genbank	human	reviewed	54_36p	silent	SNP	0.945	C
ADAM29	11086	genome.wustl.edu	37	4	175899083	175899083	+	Missense_Mutation	SNP	C	C	A	rs141115697	byFrequency	TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr4:175899083C>A	ENST00000359240.3	+	5	3077	c.2407C>A	c.(2407-2409)Cag>Aag	p.Q803K	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Missense_Mutation_p.Q803K|ADAM29_ENST00000445694.1_Missense_Mutation_p.Q803K|ADAM29_ENST00000404450.4_Missense_Mutation_p.Q803K	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	803	9 X 9 AA approximate repeats.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.Q803*(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GACACCCTCCCAGAGGCAACC	0.567																																					Ovarian(140;1727 1835 21805 25838 41440)											1	Substitution - Nonsense(1)	lung(1)	4											133.0	125.0	128.0					4																	175899083		2203	4300	6503	176135658	SO:0001583	missense	11086			AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.2407C>A	4.37:g.175899083C>A	ENSP00000352177:p.Gln803Lys		176135658	Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	"HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin),PatternScan_DISINTEGRIN_1,HMMSmart_SM00608,HMMPfam_ADAM_CR"	p.Q803K	ENST00000359240.3	37	c.2407	CCDS3823.1	4	.	.	.	.	.	.	.	.	.	.	C	4.227	0.041090	0.08196	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.01787	4.64;4.64;4.64;4.64	0.629	0.629	0.17687	.	.	.	.	.	T	0.01029	0.0034	N	0.08118	0	0.21984	N	0.999439	B	0.24920	0.114	B	0.14023	0.01	T	0.49184	-0.8966	8	.	.	.	.	7.1904	0.25822	0.0:0.9999:0.0:1.0E-4	.	803	Q9UKF5	ADA29_HUMAN	K	803	ENSP00000352177:Q803K;ENSP00000414544:Q803K;ENSP00000384229:Q803K;ENSP00000423517:Q803K	.	Q	+	1	0	ADAM29	176135658	0.063000	0.20901	0.006000	0.13384	0.015000	0.08874	1.091000	0.30915	0.663000	0.31027	0.280000	0.19369	CAG	-	NULL		0.567	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ADAM29	protein_coding		C			176135658	+1	no_errors	NM_014269	genbank	human	reviewed	54_36p	missense	SNP	0.036	A
FAM149A	25854	genome.wustl.edu	37	4	187086540	187086540	+	Silent	SNP	G	G	A			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr4:187086540G>A	ENST00000356371.5	+	11	1959	c.1959G>A	c.(1957-1959)acG>acA	p.T653T	FAM149A_ENST00000389354.5_Silent_p.T362T|FAM149A_ENST00000502970.1_Silent_p.T362T|FAM149A_ENST00000227065.4_Silent_p.T362T|FAM149A_ENST00000514153.1_Silent_p.T362T|FAM149A_ENST00000503432.1_Silent_p.T362T			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	653										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		TGGTTCAAACGTCACGGAGCA	0.537																																																0			4											112.0	103.0	106.0					4																	187086540		2203	4300	6503	187323534	SO:0001819	synonymous_variant	25854			AK057166	CCDS34117.1	4q35.1	2012-04-19			ENSG00000109794	ENSG00000109794			24527	protein-coding gene	gene with protein product							Standard	NM_015398		Approved	DKFZP564J102, MST119, MSTP119	uc010isl.3	A5PLN7	OTTHUMG00000160565	ENST00000356371.5:c.1959G>A	4.37:g.187086540G>A			187323534	B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	Missense_Mutation	SNP	NULL	p.V363I	ENST00000356371.5	37	c.1087		4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.479|4.479	0.088773|0.088773	0.08583|0.08583	.|.	.|.	ENSG00000109794|ENSG00000109794	ENST00000510843|ENST00000512271	.|.	.|.	.|.	5.55|5.55	-1.69|-1.69	0.08186|0.08186	.|.	.|.	.|.	.|.	.|.	T|T	0.17959|0.17959	0.0431|0.0431	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999999|0.999999	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.23904|0.23904	-1.0175|-1.0175	4|4	.|.	.|.	.|.	-7.9089|-7.9089	0.2342|0.2342	0.00184|0.00184	0.2252:0.2393:0.2412:0.2943|0.2252:0.2393:0.2412:0.2943	.|.	.|.	.|.	.|.	H|I	40|40	.|.	.|.	R|V	+|+	2|1	0|0	FAM149A|FAM149A	187323534|187323534	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.053000|-0.053000	0.11846|0.11846	-0.233000|-0.233000	0.09797|0.09797	-1.835000|-1.835000	0.00590|0.00590	CGT|GTC	-	NULL		0.537	FAM149A-201	KNOWN	basic	protein_coding	FAM149A	protein_coding		G	NM_001006655		187323534	+1	no_errors	ENST00000356371	ensembl	human	known	54_36p	missense	SNP	0.000	A
CICP13	728615	genome.wustl.edu	37	1	222642681	222642681	+	IGR	SNP	C	C	T	rs201093700		TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr1:222642681C>T								RP11-358H9.1 (14634 upstream) : RNU6-791P (34292 downstream)																							GAGGACATAGCGAGTGACGAG	0.592																																																0			1																																								220709304	SO:0001628	intergenic_variant	728615																															1.37:g.222642681C>T			220709304		RNA	SNP	-	NULL		37	NULL		1																																																																																			-	-	0	0.592					LOC728615			C			220709304	+1	pseudogene	XR_042338	genbank	human	model	54_36p	rna	SNP	1.000	T
TARBP1	6894	genome.wustl.edu	37	1	234565299	234565299	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr1:234565299T>A	ENST00000040877.1	-	16	2733	c.2734A>T	c.(2734-2736)Agt>Tgt	p.S912C		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	912					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			AGAATTTCACTCCCTGTGGTT	0.423																																																0			1											97.0	99.0	98.0					1																	234565299		2203	4300	6503	232631922	SO:0001583	missense	6894				CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.2734A>T	1.37:g.234565299T>A	ENSP00000040877:p.Ser912Cys		232631922	Q9H581	Missense_Mutation	SNP	superfamily_ARM-type_fold,superfamily_SSF75217,HMMPfam_SpoU_methylase	p.S912C	ENST00000040877.1	37	c.2734	CCDS1601.1	1	.	.	.	.	.	.	.	.	.	.	T	14.25	2.478176	0.44044	.	.	ENSG00000059588	ENST00000040877	T	0.06528	3.29	5.36	-6.67	0.01783	.	1.200000	0.05556	N	0.568291	T	0.04770	0.0129	L	0.36672	1.1	0.09310	N	1	P	0.46020	0.871	B	0.40702	0.338	T	0.25606	-1.0127	10	0.66056	D	0.02	-11.7357	3.2373	0.06768	0.2701:0.4719:0.09:0.168	.	912	Q13395	TARB1_HUMAN	C	912	ENSP00000040877:S912C	ENSP00000040877:S912C	S	-	1	0	TARBP1	232631922	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.013000	0.12678	-1.244000	0.02516	0.533000	0.62120	AGT	-	NULL		0.423	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TARBP1	protein_coding	OTTHUMT00000092616.1	T	NM_005646		232631922	-1	no_errors	NM_005646	genbank	human	reviewed	54_36p	missense	SNP	0.000	A
SH3BP4	23677	genome.wustl.edu	37	2	235961313	235961313	+	Silent	SNP	G	G	A	rs149657441		TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr2:235961313G>A	ENST00000409212.1	+	5	3093	c.2586G>A	c.(2584-2586)gaG>gaA	p.E862E	SH3BP4_ENST00000392011.2_Silent_p.E862E|SH3BP4_ENST00000344528.4_Silent_p.E862E			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	862					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		AGCTGGCTGAGAAGCTGGCCA	0.632																																																0			2						G		0,4386		0,0,2193	38.0	33.0	35.0		2586	3.5	1.0	2	dbSNP_134	35	2,8580		0,2,4289	no	coding-synonymous	SH3BP4	NM_014521.2		0,2,6482	AA,AG,GG		0.0233,0.0,0.0154		862/964	235961313	2,12966	2193	4291	6484	235626052	SO:0001819	synonymous_variant	23677			AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.2586G>A	2.37:g.235961313G>A			235626052	O95082|Q309A3|Q53QD0|Q53TD1	Silent	SNP	superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,HMMPfam_SH3_2	p.E862	ENST00000409212.1	37	c.2586	CCDS2513.1	2																																																																																			-	NULL		0.632	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SH3BP4	protein_coding	OTTHUMT00000329763.1	G			235626052	+1	no_errors	NM_014521	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
STXBP2	6813	genome.wustl.edu	37	19	7705300	7705301	+	Intron	INS	-	-	TG	rs398120781|rs373626928|rs529174822|rs35685478|rs374557781|rs563866452	byFrequency	TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr19:7705300_7705301insTG	ENST00000221283.5	+	5	277				CTD-3214H19.4_ENST00000595866.1_Intron|STXBP2_ENST00000441779.2_Intron|STXBP2_ENST00000414284.2_Intron	NM_006949.2	NP_008880.2	Q15833	STXB2_HUMAN	syntaxin binding protein 2						leukocyte mediated cytotoxicity (GO:0001909)|neutrophil degranulation (GO:0043312)|protein transport (GO:0015031)|regulation of mast cell degranulation (GO:0043304)|vesicle docking involved in exocytosis (GO:0006904)	azurophil granule (GO:0042582)|cytolytic granule (GO:0044194)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin-3 binding (GO:0030348)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						gtgtgtatgtatgtgtgcgcgc	0.485																																																0			19																																								7611301	SO:0001627	intron_variant	6813			U63533	CCDS12181.1, CCDS45948.1, CCDS62522.1	19p13.3-p13.2	2014-09-17				ENSG00000076944			11445	protein-coding gene	gene with protein product		601717				8921365	Standard	NM_001127396		Approved	UNC18B, Hunc18b	uc010xjr.3	Q15833		ENST00000221283.5:c.247-316->TG	19.37:g.7705305_7705306dupTG			7611300	B4E175|E7EQD5|Q9BU65	Frame_Shift_Ins	INS	PatternScan_VWFC_1,HMMPfam_Sec1,superfamily_Sec1/munc18-like (SM) proteins,PatternScan_ZINC_FINGER_C2H2_1	p.C165fs	ENST00000221283.5	37	c.492_493	CCDS12181.1	19																																																																																			-	PatternScan_VWFC_1		0.485	STXBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STXBP2	protein_coding	OTTHUMT00000460963.1	-	NM_006949		7611301	+1	no_start_codon	ENST00000320400	ensembl	human	known	54_36p	frame_shift_ins	INS	0.011:0.022	TG
SLC34A2	10568	genome.wustl.edu	37	4	25678148	25678153	+	In_Frame_Del	DEL	GCTGCT	GCTGCT	-			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	GCTGCT	GCTGCT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr4:25678148_25678153delGCTGCT	ENST00000382051.3	+	13	1900_1905	c.1850_1855delGCTGCT	c.(1849-1857)cgctgctgc>cgc	p.CC620del	SLC34A2_ENST00000504570.1_In_Frame_Del_p.CC619del|SLC34A2_ENST00000503434.1_In_Frame_Del_p.CC619del	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	620	Cys-rich.			C -> Y (in Ref. 1; AAC98695). {ECO:0000305}.	aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TTCCAGATGCgctgctgctgctgctg	0.641			T	ROS1	NSCLC																																		Dom	yes		4	4p15.2	10568	"""solute carrier family 34 (sodium phosphate), member 2"""		E	0			4																																								25287251	SO:0001651	inframe_deletion	10568			AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1850_1855delGCTGCT	4.37:g.25678154_25678159delGCTGCT	ENSP00000371483:p.Cys620_Cys621del		25287246	A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	In_Frame_Del	DEL	HMMPfam_Na_Pi_cotrans	p.CC621in_frame_del	ENST00000382051.3	37	c.1850_1855	CCDS3435.1	4																																																																																			(deletion:cds_exon[25286855,25287469])	NULL		0.641	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC34A2	protein_coding	OTTHUMT00000214990.1	GCTGCT	NM_006424		25287251	+1	no_errors	NM_006424	genbank	human	validated	54_36p	in_frame_del	DEL	0.453:0.606:0.986:1.000:1.000:1.000	-
SERINC2	347735	genome.wustl.edu	37	1	31905889	31905890	+	In_Frame_Ins	INS	-	-	CAG	rs33956499|rs3050461|rs5773362	byFrequency	TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr1:31905889_31905890insCAG	ENST00000373709.3	+	9	1239_1240	c.1089_1090insCAG	c.(1090-1092)cag>CAGcag	p.364_364Q>QQ	SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000536859.1_In_Frame_Ins_p.368_368Q>QQ|SERINC2_ENST00000373710.1_In_Frame_Ins_p.373_373Q>QQ|SERINC2_ENST00000536384.1_In_Frame_Ins_p.368_368Q>QQ	NM_178865.4	NP_849196.2	Q96SA4	SERC2_HUMAN	serine incorporator 2	364					phosphatidylserine metabolic process (GO:0006658)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	L-serine transmembrane transporter activity (GO:0015194)			cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		TAGACGCCACACAGCAGCAGCA	0.634														3701	0.739018	0.7617	0.7363	5008	,	,		17436	0.63		0.8598	False		,,,				2504	0.6984															0			1																																								31678477	SO:0001652	inframe_insertion	347735			AY094595	CCDS30662.1, CCDS55583.1, CCDS55584.1, CCDS55585.1	1p35.1	2008-02-05	2005-11-01	2005-11-01	ENSG00000168528	ENSG00000168528			23231	protein-coding gene	gene with protein product		614549	"""tumor differentially expressed 2-like"""	TDE2L		12949800	Standard	NM_178865		Approved	FKSG84, PRO0899, TDE2	uc010ogh.2	Q96SA4	OTTHUMG00000003796	ENST00000373709.3:c.1102_1104dupCAG	1.37:g.31905896_31905898dupCAG	ENSP00000362813:p.Gln368dup		31678476	A0AVB4|B4DJK5|B7Z567|B7ZAP2|E7EUZ9|Q86Y23	In_Frame_Ins	INS	HMMPfam_Serinc	p.367in_frame_insQ	ENST00000373709.3	37	c.1089_1090	CCDS30662.1	1																																																																																			-	HMMPfam_Serinc		0.634	SERINC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERINC2	protein_coding	OTTHUMT00000010680.1	-	NM_018565		31678477	+1	no_errors	NM_178865	genbank	human	validated	54_36p	in_frame_ins	INS	0.300:0.539	CAG
RALGAPB	57148	genome.wustl.edu	37	20	37168471	37168472	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	GC	GC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr20:37168471_37168472delGC	ENST00000262879.6	+	17	2716_2717	c.2432_2433delGC	c.(2431-2433)tgcfs	p.C811fs	RALGAPB_ENST00000397038.1_Frame_Shift_Del_p.C589fs|RALGAPB_ENST00000397042.3_Frame_Shift_Del_p.C807fs|RALGAPB_ENST00000397040.1_Frame_Shift_Del_p.C811fs			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	811					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AGTTCTGTGTGCACCTACATTG	0.47																																																0			20																																								36601886	SO:0001589	frameshift_variant	57148			AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.2432_2433delGC	20.37:g.37168471_37168472delGC	ENSP00000262879:p.Cys811fs		36601885	A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Frame_Shift_Del	DEL	superfamily_Rap/Ran-GAP (Pfam 02145)	p.C811fs	ENST00000262879.6	37	c.2432_2433	CCDS13305.1	20																																																																																			(deletion:cds_exon[36601833,36602015])	NULL		0.470	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	KIAA1219	protein_coding	OTTHUMT00000079191.1	GC	NM_020336		36601886	+1	no_errors	NM_020336	genbank	human	validated	54_36p	frame_shift_del	DEL	1.000:1.000	-
FGD1	2245	genome.wustl.edu	37	X	54475610	54475629	+	Frame_Shift_Del	DEL	GTGATAGAATTGAAGGGCTC	GTGATAGAATTGAAGGGCTC	-	rs202213679		TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	GTGATAGAATTGAAGGGCTC	GTGATAGAATTGAAGGGCTC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chrX:54475610_54475629delGTGATAGAATTGAAGGGCTC	ENST00000375135.3	-	15	2954_2973	c.2221_2240delGAGCCCTTCAATTCTATCAC	c.(2221-2241)gagcccttcaattctatcaccfs	p.EPFNSIT741fs		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	741					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CCTGCGTTTGGTGATAGAATTGAAGGGCTCCTGGCAGCGC	0.609																																																0			X	GRCh37	CM061768	FGD1	M																																				54492354	SO:0001589	frameshift_variant	2245			U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3663	protein-coding gene	gene with protein product		300546	"""faciogenital dysplasia (Aarskog-Scott syndrome)"""	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.2221_2240delGAGCCCTTCAATTCTATCAC	X.37:g.54475610_54475629delGTGATAGAATTGAAGGGCTC	ENSP00000364277:p.Glu741fs		54492335	Q5H999|Q8N4D9	Frame_Shift_Del	DEL	PatternScan_DH_1,superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,superfamily_FYVE_PHD_ZnF,HMMSmart_FYVE,HMMPfam_FYVE	p.E741fs	ENST00000375135.3	37	c.2240_2221	CCDS14359.1	X																																																																																			(deletion:cds_exon[54492301,54492426])	superfamily_FYVE_PHD_ZnF,HMMSmart_FYVE,HMMPfam_FYVE		0.609	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD1	protein_coding	OTTHUMT00000056801.1	GTGATAGAATTGAAGGGCTC	NM_004463		54492354	-1	no_errors	NM_004463	genbank	human	reviewed	54_36p	frame_shift_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000	-
FAM13A	10144	genome.wustl.edu	37	4	89649411	89649412	+	3'UTR	DEL	TG	TG	-	rs150707965|rs140652030	byFrequency	TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	TG	TG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr4:89649411_89649412delTG	ENST00000264344.5	-	0	3551_3552				FAM13A_ENST00000508369.1_3'UTR|FAM13A-AS1_ENST00000511543.1_RNA|FAM13A_ENST00000503556.1_3'UTR|FAM13A_ENST00000511976.1_3'UTR|FAM13A-AS1_ENST00000500765.1_RNA|FAM13A_ENST00000395002.2_3'UTR|FAM13A_ENST00000513837.1_3'UTR	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						GCTCCACTACtgtgtgtgtgtg	0.436																																																0			4																																								89868435	SO:0001624	3_prime_UTR_variant	285512			AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.*273CA>-	4.37:g.89649421_89649422delTG			89868434	B4DLC1|Q24JP0|Q5PR21|Q8NBA3	RNA	DEL	-	NULL	ENST00000264344.5	37	NULL	CCDS34029.1	4																																																																																			(deletion:rna[89868009,89870277])	-		0.436	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM13AOS	protein_coding	OTTHUMT00000363371.1	TG			89868435	+1	no_errors	NR_002806	genbank	human	validated	54_36p	rna	DEL	0.000:0.000	-
GATS	352954	genome.wustl.edu	37	7	99821839	99821844	+	Intron	DEL	TTTTTT	TTTTTT	-	rs10673922|rs372167927	byFrequency	TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	TTTTTT	TTTTTT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr7:99821839_99821844delTTTTTT	ENST00000436886.2	-	3	466				GATS_ENST00000543273.1_RNA	NM_178831.6	NP_849153.3	Q8NAP1	GATS_HUMAN	GATS, stromal antigen 3 opposite strand											endometrium(2)|large_intestine(2)|lung(4)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCCAACAGGAtttttttttttttttt	0.529														2822	0.563498	0.7436	0.4193	5008	,	,		18721	0.3383		0.5924	False		,,,				2504	0.6247															0			7																																								99659780	SO:0001627	intron_variant	10734			AK095056	CCDS43621.1	7q22.1	2014-08-13	2009-04-08	2009-04-08	ENSG00000160844	ENSG00000239521			29954	protein-coding gene	gene with protein product	"""stromal antigen 3 opposite strand"""					12477932	Standard	NM_178831		Approved	DKFZp686B07267, STAG3OS	uc003uua.4	Q8NAP1	OTTHUMG00000155289	ENST00000436886.2:c.218-141AAAAAA>-	7.37:g.99821845_99821850delTTTTTT			99659775	D6W5V0|Q68D93|Q6P198|Q6PII7|Q7Z720|Q86UK9	Frame_Shift_Del	DEL	superfamily_ARM repeat,HMMPfam_STAG	p.D1224fs	ENST00000436886.2	37	c.3672_3675	CCDS43621.1	7																																																																																			(deletion:cds_exon[99659773,99659778], flank[99659779,99709778])	NULL		0.529	GATS-201	KNOWN	basic|appris_principal|CCDS	protein_coding	STAG3	protein_coding		TTTTTT	NM_178831		99659780	+1	no_stop_codon	ENST00000394018	ensembl	human	known	54_36p	frame_shift_del	DEL	0.113:0.101:0.089:0.076	-
CASP6	839	genome.wustl.edu	37	4	110615716	110615717	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	TG	TG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr4:110615716_110615717delTG	ENST00000265164.2	-	5	524_525	c.447_448delCA	c.(445-450)cacagcfs	p.HS149fs	CASP6_ENST00000352981.3_Frame_Shift_Del_p.HS60fs|CASP6_ENST00000510324.1_5'UTR|AC004067.5_ENST00000608733.1_RNA	NM_001226.3	NP_001217.2	P55212	CASP6_HUMAN	caspase 6, apoptosis-related cysteine peptidase	149					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|epithelial cell differentiation (GO:0030855)|proteolysis (GO:0006508)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000171)		CCAACCAGGCTGTGACACTTGT	0.376																																																0			4																																								110835166	SO:0001589	frameshift_variant	839			U20536	CCDS3684.1, CCDS3685.1	4q25	2008-02-05	2005-08-17		ENSG00000138794	ENSG00000138794		"""Caspases"""	1507	protein-coding gene	gene with protein product		601532	"""caspase 6, apoptosis-related cysteine protease"""			8780721, 7796396	Standard	XM_005263271		Approved	MCH2	uc003hzn.1	P55212	OTTHUMG00000131914	ENST00000265164.2:c.447_448delCA	4.37:g.110615718_110615719delTG	ENSP00000265164:p.His149fs		110835165	Q9BQE7	Frame_Shift_Del	DEL	superfamily_Caspase-like,HMMSmart_SM00115,HMMPfam_Peptidase_C14,PatternScan_CASPASE_HIS,PatternScan_CASPASE_CYS	p.H149fs	ENST00000265164.2	37	c.448_447	CCDS3684.1	4																																																																																			(deletion:cds_exon[110835130,110835305])	superfamily_Caspase-like,HMMSmart_SM00115,HMMPfam_Peptidase_C14		0.376	CASP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASP6	protein_coding	OTTHUMT00000254866.1	TG	NM_001226		110835166	-1	no_errors	NM_001226	genbank	human	reviewed	54_36p	frame_shift_del	DEL	1.000:0.995	-
C9orf91	203197	genome.wustl.edu	37	9	117390523	117390525	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	AGA	AGA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr9:117390523_117390525delAGA	ENST00000288502.4	+	5	904_906	c.467_469delAGA	c.(466-471)cagaag>cag	p.K158del	C9orf91_ENST00000374049.4_In_Frame_Del_p.K159del			Q5VZI3	CI091_HUMAN	chromosome 9 open reading frame 91	158						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						GAAAGACACCAGAAGAAGGTGAG	0.542																																																0			9																																								116430346	SO:0001651	inframe_deletion	203197			BX649023	CCDS6808.1	9q33.1	2008-02-05			ENSG00000157693	ENSG00000157693			24513	protein-coding gene	gene with protein product						14702039	Standard	NM_153045		Approved	DKFZp547P234, FLJ38045	uc004bjd.4	Q5VZI3	OTTHUMG00000020541	ENST00000288502.4:c.467_469delAGA	9.37:g.117390526_117390528delAGA	ENSP00000288502:p.Lys158del		116430344	A0PJA3|Q3KNS4|Q5VZI2|Q6P5Z7|Q8N1P3|Q8ND43	In_Frame_Del	DEL	NULL	p.K158in_frame_del	ENST00000288502.4	37	c.467_469	CCDS6808.1	9																																																																																			(deletion:cds_exon[116430202,116430351])	NULL		0.542	C9orf91-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	C9orf91	protein_coding	OTTHUMT00000053780.1	AGA	NM_153045		116430346	+1	no_errors	NM_153045	genbank	human	validated	54_36p	in_frame_del	DEL	1.000:1.000:1.000	-
MYO7B	4648	genome.wustl.edu	37	2	128394245	128394256	+	Intron	DEL	CAGGGACCTGTG	CAGGGACCTGTG	-	rs199624518	byFrequency	TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	CAGGGACCTGTG	CAGGGACCTGTG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr2:128394245_128394256delCAGGGACCTGTG	ENST00000409816.2	+	44	6161				LIMS2_ENST00000494613.1_5'Flank|MYO7B_ENST00000428314.1_Intron|MYO7B_ENST00000409090.1_Intron|MYO7B_ENST00000389524.4_Intron			Q6PIF6	MYO7B_HUMAN	myosin VIIB							extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CCACCAGGTCCAGGGACCTGTGCAGGTGGGGC	0.651														38	0.00758786	0.0008	0.0245	5008	,	,		18133	0.001		0.0179	False		,,,				2504	0.001															0			2								7,3941		0,7,1967						-7.0	0.0			36	137,7837		0,137,3850	no	intron	MYO7B	NM_001080527.1		0,144,5817	A1A1,A1R,RR		1.7181,0.1773,1.2079				144,11778				128110726	SO:0001627	intron_variant	0				CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.6129+42CAGGGACCTGTG>-	2.37:g.128394245_128394256delCAGGGACCTGTG			128110715	Q14786|Q8TEE1	In_Frame_Del	DEL	NULL	p.AQVP7in_frame_del	ENST00000409816.2	37	c.31_20	CCDS46405.1	2																																																																																			(deletion:cds_exon[128110611,128110745])	NULL		0.651	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LOC100128411	protein_coding	OTTHUMT00000331124.3	CAGGGACCTGTG	XM_291001		128110726	-1	no_errors	XM_001717246	genbank	human	model	54_36p	in_frame_del	DEL	0.000:0.000:0.000:0.000:0.000:0.000:0.011:0.000:0.000:0.000:0.000:0.000	-
TUFT1	7286	genome.wustl.edu	37	1	151529850	151529857	+	Intron	DEL	AATCATCA	AATCATCA	-	rs150021480|rs71090190	byFrequency	TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	AATCATCA	AATCATCA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr1:151529850_151529857delAATCATCA	ENST00000368849.3	+	2	122				TUFT1_ENST00000538902.1_Intron|TUFT1_ENST00000392712.3_Intron|TUFT1_ENST00000353024.3_Intron|TUFT1_ENST00000368848.2_Intron|RP11-74C1.4_ENST00000434112.1_RNA	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1						bone mineralization (GO:0030282)|odontogenesis (GO:0042476)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	structural constituent of tooth enamel (GO:0030345)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			tttttgctttaatcatcaaatgtaactt	0.351														1318	0.263179	0.2549	0.2608	5008	,	,		16375	0.0813		0.3688	False		,,,				2504	0.3548															0			1																																								149796481	SO:0001627	intron_variant	729374			AF254260	CCDS1000.1, CCDS44223.1	1q21	2008-02-05			ENSG00000143367	ENSG00000143367			12422	protein-coding gene	gene with protein product		600087				7919663	Standard	NM_020127		Approved		uc001eyl.3	Q9NNX1	OTTHUMG00000012536	ENST00000368849.3:c.61-4710AATCATCA>-	1.37:g.151529850_151529857delAATCATCA			149796474	B2RD57|D3DV21|D3DV22|Q5T384|Q5T385|Q9BU28|Q9H5L1	RNA	DEL	-	NULL	ENST00000368849.3	37	NULL	CCDS1000.1	1																																																																																			(deletion:rna[149795934,149797102])	-		0.351	TUFT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC729374	protein_coding	OTTHUMT00000035022.1	AATCATCA	NM_020127		149796481	+1	pseudogene	XR_015991	genbank	human	model	54_36p	rna	DEL	0.034:0.023:0.010:0.007:0.005:0.009:0.013:0.033	-
