#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-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	T	T					Unknown	Invalid:failed_liftOver	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chrUnknown:0T>C								None (None upstream) : None (None downstream)																								0.0																																																0			MT																																								14881	SO:0001628	intergenic_variant	4519																															Unknown.37:g.0T>C			14881		Missense_Mutation	SNP	superfamily_Transmembr_di-haem_cytochrome,HMMPfam_Cytochrom_B_N,HMMPfam_Cytochrom_B_C,superfamily_Cytochrome_b/b6_C	p.I45T		37	c.134		MT																																																																																			-	superfamily_Transmembr_di-haem_cytochrome,HMMPfam_Cytochrom_B_N	0	0					MT-CYB			T			14881	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000361789	ensembl	human	known	54_36p	missense	SNP	NULL	C
ZNF343	79175	genome.wustl.edu	37	20	2464454	2464454	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr20:2464454C>G	ENST00000278772.4	-	6	1640	c.1153G>C	c.(1153-1155)Gag>Cag	p.E385Q	RP4-734P14.4_ENST00000461548.1_Intron	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	385					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(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						CGTCCACACTCCAGGCACACA	0.527																																																0			20											85.0	80.0	82.0					20																	2464454		2203	4300	6503	2412454	SO:0001583	missense	79175			AK096911	CCDS13028.1, CCDS74692.1, CCDS74693.1, CCDS74694.1	20p13	2013-01-08			ENSG00000088876	ENSG00000088876		"""Zinc fingers, C2H2-type"", ""-"""	16017	protein-coding gene	gene with protein product							Standard	NM_001282498		Approved	MGC10715	uc002wge.1	Q6P1L6	OTTHUMG00000031701	ENST00000278772.4:c.1153G>C	20.37:g.2464454C>G	ENSP00000278772:p.Glu385Gln		2412454	Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	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.E385Q	ENST00000278772.4	37	c.1153	CCDS13028.1	20	.	.	.	.	.	.	.	.	.	.	C	10.73	1.433623	0.25813	.	.	ENSG00000088876	ENST00000278772	T	0.39229	1.09	2.85	0.653	0.17828	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32071	0.0817	N	0.15975	0.35	0.09310	N	1	P	0.35600	0.511	P	0.44561	0.453	T	0.34551	-0.9824	9	0.39692	T	0.17	.	10.0166	0.42018	0.0:0.6133:0.3866:0.0	.	385	Q6P1L6	ZN343_HUMAN	Q	385	ENSP00000278772:E385Q	ENSP00000278772:E385Q	E	-	1	0	ZNF343	2412454	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-0.260000	0.08708	0.062000	0.16340	0.591000	0.81541	GAG	-	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1		0.527	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF343	protein_coding	OTTHUMT00000077617.1	C	NM_024325		2412454	-1	no_errors	NM_024325	genbank	human	validated	54_36p	missense	SNP	0.000	G
SDK1	221935	genome.wustl.edu	37	7	4277414	4277414	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr7:4277414C>A	ENST00000404826.2	+	42	6267	c.6128C>A	c.(6127-6129)aCa>aAa	p.T2043K	SDK1_ENST00000389531.3_Missense_Mutation_p.T2023K|SDK1_ENST00000466611.1_3'UTR	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	2043					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AACTGCAGCACAGGTGCAGGT	0.577																																																0			7											124.0	116.0	118.0					7																	4277414		2203	4300	6503	4243940	SO:0001583	missense	221935			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.6128C>A	7.37:g.4277414C>A	ENSP00000385899:p.Thr2043Lys		4243940	Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_I-set,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3	p.T2043K	ENST00000404826.2	37	c.6128	CCDS34590.1	7	.	.	.	.	.	.	.	.	.	.	C	12.18	1.862007	0.32884	.	.	ENSG00000146555	ENST00000404826;ENST00000446104;ENST00000389531	T;T	0.60424	0.19;0.2	5.27	5.27	0.74061	.	0.340394	0.25839	N	0.027978	T	0.56202	0.1969	M	0.72479	2.2	0.80722	D	1	B;B;B;P	0.37914	0.409;0.383;0.015;0.611	B;B;B;B	0.35182	0.197;0.107;0.011;0.147	T	0.56335	-0.7996	10	0.23891	T	0.37	.	15.9789	0.80091	0.0:0.8655:0.1344:0.0	.	2023;103;530;2043	F8W6X9;Q7Z5N4-2;F2Z3E9;Q7Z5N4	.;.;.;SDK1_HUMAN	K	2043;291;2023	ENSP00000385899:T2043K;ENSP00000374182:T2023K	ENSP00000374182:T2023K	T	+	2	0	SDK1	4243940	1.000000	0.71417	0.945000	0.38365	0.815000	0.46073	4.415000	0.59809	2.457000	0.83068	0.609000	0.83330	ACA	-	NULL		0.577	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	protein_coding	OTTHUMT00000323702.1	C	NM_152744		4243940	+1	no_errors	NM_152744	genbank	human	validated	54_36p	missense	SNP	0.984	A
C4orf50	389197	genome.wustl.edu	37	4	5961153	5961153	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr4:5961153G>C	ENST00000324058.5	-	7	869	c.780C>G	c.(778-780)agC>agG	p.S260R	C4orf50_ENST00000531445.1_Missense_Mutation_p.S734R			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	260										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						TGCTGCAAATGCTTTGTCTAA	0.493																																																0			4											121.0	116.0	118.0					4																	5961153		2203	4300	6503	6012054	SO:0001583	missense	389197			BC140710		4p16.1	2009-04-14			ENSG00000181215	ENSG00000181215			33766	protein-coding gene	gene with protein product							Standard	XM_003119922		Approved	FLJ46481		Q6ZRC1	OTTHUMG00000149971	ENST00000324058.5:c.780C>G	4.37:g.5961153G>C	ENSP00000317287:p.Ser260Arg		6012054		Missense_Mutation	SNP	NULL	p.S260R	ENST00000324058.5	37	c.780		4	.	.	.	.	.	.	.	.	.	.	G	15.28	2.787380	0.49997	.	.	ENSG00000181215	ENST00000531445;ENST00000324058	T;T	0.36157	1.27;1.27	4.5	2.74	0.32292	.	0.000000	0.48286	D	0.000183	T	0.51770	0.1694	M	0.67953	2.075	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.37384	-0.9708	10	0.72032	D	0.01	-16.3487	6.2223	0.20687	0.2319:0.0:0.7681:0.0	.	260	Q6ZRC1	CD050_HUMAN	R	734;260	ENSP00000437121:S734R;ENSP00000317287:S260R	ENSP00000317287:S260R	S	-	3	2	C4orf50	6012054	0.531000	0.26338	0.005000	0.12908	0.962000	0.63368	0.801000	0.27055	0.503000	0.28060	0.655000	0.94253	AGC	-	NULL		0.493	C4orf50-201	KNOWN	basic|appris_candidate	protein_coding	FLJ46481	protein_coding		G	NM_207405		6012054	-1	no_errors	NM_207405	genbank	human	predicted	54_36p	missense	SNP	0.027	C
TP53	7157	genome.wustl.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> 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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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"""	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	17	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50.0	50.0	50.0					17																	7578406		2203	4300	6503	7519131	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His		7519131	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.R175H	ENST00000269305.4	37	c.524	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC	-	HMMPfam_P53,superfamily_p53-like transcription factors		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546		7519131	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
CC2D2A	57545	genome.wustl.edu	37	4	15518283	15518283	+	Silent	SNP	A	A	T			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr4:15518283A>T	ENST00000503292.1	+	12	1233	c.1053A>T	c.(1051-1053)ctA>ctT	p.L351L	CC2D2A_ENST00000413206.1_Silent_p.L351L|CC2D2A_ENST00000389652.5_Silent_p.L302L|CC2D2A_ENST00000424120.1_Silent_p.L351L|CC2D2A_ENST00000513811.1_3'UTR	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	351					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						GCAGGATCCTAGCTCTGCCAA	0.453																																																0			4											60.0	64.0	63.0					4																	15518283		1921	4122	6043	15127381	SO:0001819	synonymous_variant	57545			AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"""Meckel syndrome, type 6"""	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.1053A>T	4.37:g.15518283A>T			15127381	A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Silent	SNP	HMMSmart_C2	p.L351	ENST00000503292.1	37	c.1053	CCDS47026.1	4																																																																																			-	NULL		0.453	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CC2D2A	protein_coding	OTTHUMT00000359906.2	A	NM_001080522		15127381	+1	no_errors	NM_001080522	genbank	human	validated	54_36p	silent	SNP	0.956	T
CC2D2A	57545	genome.wustl.edu	37	4	15539713	15539713	+	Silent	SNP	G	G	A	rs375131519	byFrequency	TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr4:15539713G>A	ENST00000503292.1	+	17	2136	c.1956G>A	c.(1954-1956)ccG>ccA	p.P652P	CC2D2A_ENST00000413206.1_Silent_p.P652P|CC2D2A_ENST00000389652.5_Silent_p.P603P|CC2D2A_ENST00000424120.1_Silent_p.P652P|CC2D2A_ENST00000513811.1_3'UTR	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	652					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						CGCTGGTCCCGGAGCTAAGCC	0.607													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17596	0.0		0.0	False		,,,				2504	0.0															0			4						G		9,4373		0,9,2182	36.0	44.0	42.0		1956	-10.8	0.1	4		42	0,8580		0,0,4290	no	coding-synonymous	CC2D2A	NM_001080522.2		0,9,6472	AA,AG,GG		0.0,0.2054,0.0694		652/1621	15539713	9,12953	2191	4290	6481	15148811	SO:0001819	synonymous_variant	57545			AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"""Meckel syndrome, type 6"""	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.1956G>A	4.37:g.15539713G>A			15148811	A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Silent	SNP	HMMSmart_C2	p.P652	ENST00000503292.1	37	c.1956	CCDS47026.1	4																																																																																			-	NULL		0.607	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CC2D2A	protein_coding	OTTHUMT00000359906.2	G	NM_001080522		15148811	+1	no_errors	NM_001080522	genbank	human	validated	54_36p	silent	SNP	0.873	A
CECR1	51816	genome.wustl.edu	37	22	17684629	17684629	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr22:17684629G>A	ENST00000399839.1	-	4	847	c.577C>T	c.(577-579)Ccg>Tcg	p.P193S	CECR1_ENST00000262607.3_Missense_Mutation_p.P193S|CECR1_ENST00000399837.2_Missense_Mutation_p.P193S|CECR1_ENST00000449907.2_Missense_Mutation_p.P151S	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	193					adenosine catabolic process (GO:0006154)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)	adenosine deaminase activity (GO:0004000)|adenosine receptor binding (GO:0031685)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				ATCACCTCCGGGTGCTGGGTC	0.517																																																0			22											100.0	87.0	91.0					22																	17684629		2203	4300	6503	16064629	SO:0001583	missense	51816			AF190746	CCDS13742.1, CCDS13743.1, CCDS63395.1, CCDS74809.1	22q11.2	2008-02-22			ENSG00000093072	ENSG00000093072			1839	protein-coding gene	gene with protein product		607575		IDGFL		10756095	Standard	NM_001282225		Approved	ADGF	uc002zmk.1	Q9NZK5	OTTHUMG00000030726	ENST00000399839.1:c.577C>T	22.37:g.17684629G>A	ENSP00000382733:p.Pro193Ser		16064629	A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	Missense_Mutation	SNP	HMMPfam_A_deaminase_N,superfamily_SSF51556,HMMPfam_A_deaminase	p.P193S	ENST00000399839.1	37	c.577	CCDS13742.1	22	.	.	.	.	.	.	.	.	.	.	G	17.12	3.306960	0.60305	.	.	ENSG00000093072	ENST00000399839;ENST00000262607;ENST00000449907;ENST00000399837	D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56	3.92	3.92	0.45320	Adenosine/AMP deaminase (1);	0.000000	0.85682	U	0.000000	D	0.88314	0.6403	L	0.56396	1.775	0.50632	D	0.999885	D	0.89917	1.0	D	0.97110	1.0	D	0.87729	0.2578	10	0.40728	T	0.16	.	13.7077	0.62651	0.0:0.0:1.0:0.0	.	193	Q9NZK5	CECR1_HUMAN	S	193;193;151;193	ENSP00000382733:P193S;ENSP00000262607:P193S;ENSP00000406443:P151S;ENSP00000382731:P193S	ENSP00000262607:P193S	P	-	1	0	CECR1	16064629	1.000000	0.71417	0.702000	0.30337	0.353000	0.29299	7.832000	0.86757	1.737000	0.51674	0.650000	0.86243	CCG	-	superfamily_SSF51556,HMMPfam_A_deaminase		0.517	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CECR1	protein_coding	OTTHUMT00000316079.1	G			16064629	-1	no_errors	NM_017424	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
KIF13A	63971	genome.wustl.edu	37	6	17794893	17794893	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr6:17794893T>C	ENST00000259711.6	-	24	3090	c.2985A>G	c.(2983-2985)atA>atG	p.I995M	KIF13A_ENST00000378843.2_Missense_Mutation_p.I995M|KIF13A_ENST00000378826.2_Missense_Mutation_p.I995M|KIF13A_ENST00000378816.5_Missense_Mutation_p.I995M|KIF13A_ENST00000378814.5_Missense_Mutation_p.I995M	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	995					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TCAATTCTAATATGGAGATCC	0.418																																																0			6											103.0	98.0	100.0					6																	17794893		1943	4143	6086	17902872	SO:0001583	missense	63971			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.2985A>G	6.37:g.17794893T>C	ENSP00000259711:p.Ile995Met		17902872	A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_SMAD/FHA domain,HMMPfam_FHA	p.I995M	ENST00000259711.6	37	c.2985	CCDS47381.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.63|16.63	3.176104|3.176104	0.57692|0.57692	.|.	.|.	ENSG00000137177|ENSG00000137177	ENST00000378814;ENST00000502297;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816;ENST00000506044|ENST00000358380	T;T;T;T;T;T|.	0.79554|.	-1.24;1.18;-1.28;-1.26;-1.24;-1.25|.	5.55|5.55	-4.56|-4.56	0.03431|0.03431	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.47563|0.47563	0.1452|0.1452	M|M	0.86178|0.86178	2.8|2.8	0.31418|0.31418	N|N	0.674677|0.674677	D;D;D;D|.	0.65815|.	0.987;0.99;0.995;0.99|.	P;P;D;P|.	0.63033|.	0.885;0.887;0.91;0.887|.	T|T	0.56872|0.56872	-0.7907|-0.7907	10|5	0.87932|.	D|.	0|.	.|.	8.3704|8.3704	0.32412|0.32412	0.3707:0.0:0.4118:0.2175|0.3707:0.0:0.4118:0.2175	.|.	995;995;995;995|.	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3|.	.;.;KI13A_HUMAN;.|.	M|C	995;12;995;995;995;995;55|389	ENSP00000368091:I995M;ENSP00000425616:I12M;ENSP00000259711:I995M;ENSP00000368103:I995M;ENSP00000368120:I995M;ENSP00000368093:I995M|.	ENSP00000259711:I995M|.	I|Y	-|-	3|2	3|0	KIF13A|KIF13A	17902872|17902872	0.003000|0.003000	0.15002|0.15002	0.026000|0.026000	0.17262|0.17262	0.968000|0.968000	0.65278|0.65278	-1.222000|-1.222000	0.02965|0.02965	-0.474000|-0.474000	0.06862|0.06862	-0.336000|-0.336000	0.08194|0.08194	ATA|TAT	-	NULL		0.418	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF13A	protein_coding	OTTHUMT00000039954.4	T			17902872	-1	no_errors	NM_022113	genbank	human	validated	54_36p	missense	SNP	0.004	C
NAV2	89797	genome.wustl.edu	37	11	19970311	19970311	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr11:19970311G>A	ENST00000396087.3	+	11	2498	c.2399G>A	c.(2398-2400)aGg>aAg	p.R800K	NAV2_ENST00000540292.1_Missense_Mutation_p.R731K|NAV2_ENST00000360655.4_Missense_Mutation_p.R713K|NAV2_ENST00000527559.2_Missense_Mutation_p.R729K|NAV2_ENST00000349880.4_Missense_Mutation_p.R777K|NAV2_ENST00000396085.1_Missense_Mutation_p.R777K	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	800					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TTGACAGGGAGGCCCACACCT	0.572																																																0			11											72.0	62.0	65.0					11																	19970311		2199	4293	6492	19926887	SO:0001583	missense	89797			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.2399G>A	11.37:g.19970311G>A	ENSP00000379396:p.Arg800Lys		19926887	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	superfamily_Calponin-homology domain CH-domain,HMMSmart_SM00033,HMMPfam_CH,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382	p.R800K	ENST00000396087.3	37	c.2399	CCDS58126.1	11	.	.	.	.	.	.	.	.	.	.	G	32	5.108335	0.94292	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53;2.53	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000004	T	0.37972	0.1023	M	0.70595	2.14	0.80722	D	1	D;P	0.76494	0.999;0.829	D;B	0.74348	0.983;0.225	T	0.07578	-1.0765	9	.	.	.	.	18.6645	0.91485	0.0:0.0:1.0:0.0	.	777;713	Q8IVL1-3;Q8IVL1-4	.;.	K	713;777;777;800;729;731	ENSP00000353871:R713K;ENSP00000379394:R777K;ENSP00000309577:R777K;ENSP00000379396:R800K;ENSP00000435395:R729K;ENSP00000443489:R731K	.	R	+	2	0	NAV2	19926887	1.000000	0.71417	0.962000	0.40283	0.828000	0.46876	7.817000	0.86213	2.474000	0.83562	0.563000	0.77884	AGG	-	NULL		0.572	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	protein_coding	OTTHUMT00000324112.1	G	NM_145117		19926887	+1	no_errors	NM_182964	genbank	human	validated	54_36p	missense	SNP	0.978	A
APOB	338	genome.wustl.edu	37	2	21225788	21225788	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr2:21225788T>A	ENST00000233242.1	-	29	12633	c.12506A>T	c.(12505-12507)gAt>gTt	p.D4169V	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4169					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAACACGTTATCCTTGAGTCC	0.473																																																0			2											92.0	87.0	89.0					2																	21225788		2203	4300	6503	21079293	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.12506A>T	2.37:g.21225788T>A	ENSP00000233242:p.Asp4169Val		21079293	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	superfamily_Lipovitellin-phosvitin complex beta-sheet shell regions,HMMPfam_Vitellogenin_N,HMMSmart_SM00638,superfamily_Lipovitellin-phosvitin complex superhelical domain,HMMPfam_DUF1943,HMMPfam_DUF1081	p.D4169V	ENST00000233242.1	37	c.12506	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	T	15.98	2.992937	0.54041	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00753	5.74	5.99	3.59	0.41128	.	1.240570	0.05537	N	0.564971	T	0.00815	0.0027	N	0.22421	0.69	0.18873	N	0.999984	P	0.34462	0.454	B	0.27380	0.079	T	0.52540	-0.8562	10	0.42905	T	0.14	.	8.2437	0.31675	0.0:0.0711:0.3183:0.6106	.	4169	P04114	APOB_HUMAN	V	4169	ENSP00000233242:D4169V	ENSP00000233242:D4169V	D	-	2	0	APOB	21079293	0.001000	0.12720	0.000000	0.03702	0.014000	0.08584	0.928000	0.28831	0.502000	0.28037	0.533000	0.62120	GAT	-	NULL		0.473	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	protein_coding	OTTHUMT00000207571.1	T			21079293	-1	no_errors	NM_000384	genbank	human	reviewed	54_36p	missense	SNP	0.000	A
TEFM	79736	genome.wustl.edu	37	17	29231087	29231087	+	Silent	SNP	A	A	C			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr17:29231087A>C	ENST00000581216.1	-	2	1113	c.492T>G	c.(490-492)ctT>ctG	p.L164L	TEFM_ENST00000580840.1_Silent_p.L164L	NM_024683.3	NP_078959.3	Q96QE5	TEFM_HUMAN	transcription elongation factor, mitochondrial	164					DNA metabolic process (GO:0006259)|oxidative phosphorylation (GO:0006119)|regulation of transcription, DNA-templated (GO:0006355)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	DNA polymerase processivity factor activity (GO:0030337)|poly(A) RNA binding (GO:0044822)										AATATACCTTAAGTCTTTCTC	0.433																																																0			17											52.0	49.0	50.0					17																	29231087		1821	4076	5897	26255213	SO:0001819	synonymous_variant	79736				CCDS42291.1	17q11.2	2011-12-12	2011-12-12	2011-12-12	ENSG00000172171	ENSG00000172171			26223	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 42"""	C17orf42		11468690, 10843809, 21278163	Standard	NM_024683		Approved	FLJ22729	uc002hfu.2	Q96QE5		ENST00000581216.1:c.492T>G	17.37:g.29231087A>C			26255213	E1P655|Q6GPG5|Q6PJ19|Q96H04|Q9H5Z9	Silent	SNP	superfamily_Ribonuclease H-like	p.L164	ENST00000581216.1	37	c.492	CCDS42291.1	17																																																																																			-	NULL		0.433	TEFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf42	protein_coding	OTTHUMT00000444498.1	A	NM_024683		26255213	-1	no_errors	NM_024683	genbank	human	validated	54_36p	silent	SNP	0.994	C
MYO3A	53904	genome.wustl.edu	37	10	26463226	26463226	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr10:26463226G>A	ENST00000265944.5	+	30	4199	c.4033G>A	c.(4033-4035)Gaa>Aaa	p.E1345K	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1345					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GGCCCAGGAGGAAGAAGATAA	0.512																																																0			10											126.0	127.0	127.0					10																	26463226		2203	4300	6503	26503232	SO:0001583	missense	53904			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.4033G>A	10.37:g.26463226G>A	ENSP00000265944:p.Glu1345Lys		26503232	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ	p.E1345K	ENST00000265944.5	37	c.4033	CCDS7148.1	10	.	.	.	.	.	.	.	.	.	.	G	24.1	4.490761	0.84962	.	.	ENSG00000095777	ENST00000265944	T	0.78816	-1.21	5.63	5.63	0.86233	.	0.090575	0.85682	N	0.000000	T	0.59487	0.2197	N	0.08118	0	0.80722	D	1	P	0.43094	0.799	B	0.38378	0.272	T	0.62058	-0.6934	10	0.08381	T	0.77	.	19.6818	0.95967	0.0:0.0:1.0:0.0	.	1345	Q8NEV4	MYO3A_HUMAN	K	1345	ENSP00000265944:E1345K	ENSP00000265944:E1345K	E	+	1	0	MYO3A	26503232	1.000000	0.71417	0.176000	0.23000	0.588000	0.36517	6.708000	0.74660	2.650000	0.89964	0.563000	0.77884	GAA	-	superfamily_SSF52540,HMMSmart_IQ		0.512	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO3A	protein_coding	OTTHUMT00000047259.1	G	NM_017433		26503232	+1	no_errors	NM_017433	genbank	human	reviewed	54_36p	missense	SNP	0.033	A
FRG1B	284802	genome.wustl.edu	37	20	29612087	29612087	+	5'UTR	SNP	C	C	T	rs199702451		TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr20:29612087C>T	ENST00000278882.3	+	0	231				FRG1B_ENST00000439954.2_5'UTR|FRG1B_ENST00000468180.2_3'UTR|FRG1B_ENST00000358464.4_5'UTR			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CAAGCTCGTGCTCAAGGGAAC	0.602																																																0			20																																								28225748	SO:0001623	5_prime_UTR_variant	284802					20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.-150C>T	20.37:g.29612087C>T			28225748	C4AME5	RNA	SNP	-	NULL	ENST00000278882.3	37	NULL		20																																																																																			-	-		0.602	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	FRG1B	protein_coding	OTTHUMT00000078494.2	C	NR_003579		28225748	+1	pseudogene	NR_003579	genbank	human	provisional	54_36p	rna	SNP	1.000	T
GBA2	57704	genome.wustl.edu	37	9	35741853	35741853	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr9:35741853A>G	ENST00000378103.3	-	4	1125	c.602T>C	c.(601-603)gTg>gCg	p.V201A	GBA2_ENST00000545786.1_Missense_Mutation_p.V207A|GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000378094.4_Missense_Mutation_p.V201A	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	201					bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTGCTGGTACACAGTCTGCCC	0.582																																																0			9											79.0	69.0	73.0					9																	35741853		2203	4300	6503	35731853	SO:0001583	missense	57704			AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378103.3:c.602T>C	9.37:g.35741853A>G	ENSP00000367343:p.Val201Ala		35731853	D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	PatternScan_HMG_COA_REDUCTASE_2,superfamily_Six-hairpin glycosidases,HMMPfam_DUF608	p.V201A	ENST00000378103.3	37	c.602	CCDS6589.1	9	.	.	.	.	.	.	.	.	.	.	A	15.07	2.724899	0.48833	.	.	ENSG00000070610	ENST00000378103;ENST00000378094;ENST00000545786	.	.	.	5.68	5.68	0.88126	Beta-glucosidase, GBA2 type, N-terminal (1);	0.136556	0.50627	D	0.000107	T	0.45397	0.1340	L	0.38175	1.15	0.44694	D	0.997682	B;B;B	0.33940	0.011;0.433;0.013	B;B;B	0.33890	0.035;0.172;0.059	T	0.38067	-0.9678	9	0.20519	T	0.43	-6.3572	11.0434	0.47844	0.928:0.0:0.072:0.0	.	207;201;201	F5H7P6;Q9HCG7-2;Q9HCG7	.;.;GBA2_HUMAN	A	201;201;207	.	ENSP00000367334:V201A	V	-	2	0	GBA2	35731853	1.000000	0.71417	0.059000	0.19551	0.942000	0.58702	6.291000	0.72719	2.163000	0.67991	0.460000	0.39030	GTG	-	NULL		0.582	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GBA2	protein_coding	OTTHUMT00000055456.1	A	NM_020944		35731853	-1	no_errors	NM_020944	genbank	human	reviewed	54_36p	missense	SNP	0.996	G
UBE2K	3093	genome.wustl.edu	37	4	39779301	39779301	+	Splice_Site	SNP	G	G	C			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr4:39779301G>C	ENST00000261427.5	+	6	683		c.e6-1		UBE2K_ENST00000438068.2_Splice_Site|UBE2K_ENST00000445950.2_Intron|UBE2K_ENST00000295963.6_Splice_Site|UBE2K_ENST00000503368.1_Splice_Site	NM_001111112.1|NM_005339.4	NP_001104582.1|NP_005330.1	P61086	UBE2K_HUMAN	ubiquitin-conjugating enzyme E2K						intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|protein K48-linked ubiquitination (GO:0070936)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)			large_intestine(1)|lung(1)|ovary(2)	4						CCCCCATATAGTACAAACAAA	0.353																																					NSCLC(101;689 1592 16105 29682 31745)											0			4											80.0	83.0	82.0					4																	39779301		2203	4300	6503	39455696	SO:0001630	splice_region_variant	3093			U58522	CCDS33976.1, CCDS47043.1, CCDS47044.1	4p14	2011-05-19	2011-05-19	2007-12-04	ENSG00000078140	ENSG00000078140		"""Ubiquitin-conjugating enzymes E2"""	4914	protein-coding gene	gene with protein product		602846	"""huntingtin interacting protein 2"", ""ubiquitin-conjugating enzyme E2K (UBC1 homolog, yeast)"""	HIP2		8702625, 17873885	Standard	NM_005339		Approved	HYPG, UBC1	uc003guu.4	P61086	OTTHUMG00000160543	ENST00000261427.5:c.400-1G>C	4.37:g.39779301G>C			39455696	A6NJC1|A8K5Y9|B2RDF8|C9JGP1|O54806|P27924|Q16721|Q9CVV9|Q9Y2D3	Splice_Site	SNP	-	e6-1	ENST00000261427.5	37	c.400-1	CCDS33976.1	4	.	.	.	.	.	.	.	.	.	.	G	26.6	4.755472	0.89843	.	.	ENSG00000078140	ENST00000261427;ENST00000295963;ENST00000510934;ENST00000503368	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8764	0.96873	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UBE2K	39455696	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	9.813000	0.99286	2.768000	0.95171	0.655000	0.94253	.	-	-		0.353	UBE2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2K	protein_coding	OTTHUMT00000361061.1	G	NM_005339	Intron	39455696	+1	no_errors	NM_005339	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	C
TMEM63B	55362	genome.wustl.edu	37	6	44118029	44118029	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr6:44118029C>G	ENST00000259746.9	+	17	1772	c.1589C>G	c.(1588-1590)cCc>cGc	p.P530R	TMEM63B_ENST00000323267.6_Missense_Mutation_p.P530R			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	530					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CTGCTCCTACCCTCGCTGGGA	0.592																																																0			6											139.0	111.0	120.0					6																	44118029		2203	4300	6503	44226007	SO:0001583	missense	55362			BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 110"""	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.1589C>G	6.37:g.44118029C>G	ENSP00000259746:p.Pro530Arg		44226007	B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Missense_Mutation	SNP	HMMPfam_DUF221	p.P530R	ENST00000259746.9	37	c.1589	CCDS34461.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.5|24.5	4.539514|4.539514	0.85917|0.85917	.|.	.|.	ENSG00000137216|ENSG00000137216	ENST00000371893|ENST00000259746;ENST00000323267	T|T;T	0.29655|0.30981	1.56|1.51;1.51	5.11|5.11	5.11|5.11	0.69529|0.69529	.|Domain of unknown function DUF221 (1);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.53061|0.53061	0.1773|0.1773	M|M	0.80982|0.80982	2.52|2.52	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	T|T	0.58515|0.58515	-0.7623|-0.7623	8|10	0.72032|0.87932	D|D	0.01|0	.|.	17.6951|17.6951	0.88279|0.88279	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|530	.|Q5T3F8	.|TM63B_HUMAN	A|R	459|530	ENSP00000360960:P459A|ENSP00000259746:P530R;ENSP00000327154:P530R	ENSP00000360960:P459A|ENSP00000259746:P530R	P|P	+|+	1|2	0|0	TMEM63B|TMEM63B	44226007|44226007	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.590000|7.590000	0.82653|0.82653	2.654000|2.654000	0.90174|0.90174	0.561000|0.561000	0.74099|0.74099	CCT|CCC	-	HMMPfam_DUF221		0.592	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63B	protein_coding	OTTHUMT00000040712.2	C	XM_166410		44226007	+1	no_errors	NM_018426	genbank	human	validated	54_36p	missense	SNP	1.000	G
FCGBP	8857	genome.wustl.edu	37	19	40398366	40398366	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr19:40398366C>A	ENST00000221347.6	-	14	6608	c.6601G>T	c.(6601-6603)Gcg>Tcg	p.A2201S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2201	VWFD 5. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCGTACGCCGCCGGCACGCGC	0.692																																																0			19											38.0	46.0	44.0					19																	40398366		2037	3838	5875	45090206	SO:0001583	missense	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.6601G>T	19.37:g.40398366C>A	ENSP00000221347:p.Ala2201Ser		45090206	O95784	Missense_Mutation	SNP	HMMSmart_FOLN,HMMSmart_VWD,HMMPfam_VWD,HMMPfam_C8,superfamily_Cysrich_TIL,HMMPfam_TIL,HMMPfam_TIL_assoc,HMMSmart_VWC	p.A2201S	ENST00000221347.6	37	c.6601	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	C	3.004	-0.205477	0.06180	.	.	ENSG00000090920	ENST00000221347	T	0.58060	0.36	2.17	1.08	0.20341	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.19406	0.0466	N	0.03238	-0.38	0.19300	N	0.999971	B	0.14012	0.009	B	0.12837	0.008	T	0.29610	-1.0006	9	0.02654	T	1	.	1.988	0.03440	0.2781:0.4475:0.0:0.2744	.	2201	Q9Y6R7	FCGBP_HUMAN	S	2201	ENSP00000221347:A2201S	ENSP00000221347:A2201S	A	-	1	0	FCGBP	45090206	0.010000	0.17322	0.824000	0.32777	0.796000	0.44982	0.846000	0.27682	0.459000	0.27016	0.479000	0.44913	GCG	-	HMMSmart_VWD,HMMPfam_VWD		0.692	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	protein_coding	OTTHUMT00000462507.1	C	NM_003890		45090206	-1	no_errors	NM_003890	genbank	human	validated	54_36p	missense	SNP	0.002	A
FAM207A	85395	genome.wustl.edu	37	21	46363608	46363608	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr21:46363608T>C	ENST00000291634.6	+	2	187	c.139T>C	c.(139-141)Ttc>Ctc	p.F47L	FAM207A_ENST00000397826.3_Missense_Mutation_p.F47L	NM_058190.2	NP_478070.1	Q9NSI2	F207A_HUMAN	family with sequence similarity 207, member A	47																	GGACTGGGCGTTCATCAACAC	0.522																																																0			21											121.0	104.0	110.0					21																	46363608		2203	4300	6503	45188036	SO:0001583	missense	85395				CCDS13718.1	21q22.3	2011-08-15	2011-08-15	2011-08-15	ENSG00000160256	ENSG00000160256			15811	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 70"""	C21orf70			Standard	NM_058190		Approved	PRED56	uc002zgl.3	Q9NSI2	OTTHUMG00000090293	ENST00000291634.6:c.139T>C	21.37:g.46363608T>C	ENSP00000291634:p.Phe47Leu		45188036		Missense_Mutation	SNP	NULL	p.F47L	ENST00000291634.6	37	c.139	CCDS13718.1	21	.	.	.	.	.	.	.	.	.	.	T	8.160	0.789222	0.16258	.	.	ENSG00000160256	ENST00000291634;ENST00000397826;ENST00000458015	T;T	0.44881	0.91;0.92	3.65	0.973	0.19710	.	0.761679	0.12704	N	0.446097	T	0.34019	0.0883	L	0.53729	1.69	0.09310	N	0.999997	B;B	0.16603	0.003;0.018	B;B	0.14578	0.003;0.011	T	0.25363	-1.0134	10	0.26408	T	0.33	-4.4499	7.8929	0.29688	0.0:0.0:0.4003:0.5997	.	47;47	Q9NSI2-2;Q9NSI2	.;F207A_HUMAN	L	47	ENSP00000291634:F47L;ENSP00000380926:F47L	ENSP00000291634:F47L	F	+	1	0	C21orf70	45188036	0.002000	0.14202	0.000000	0.03702	0.043000	0.13939	0.678000	0.25277	0.078000	0.16900	0.460000	0.39030	TTC	-	NULL		0.522	FAM207A-002	KNOWN	basic|CCDS	protein_coding	C21orf70	protein_coding	OTTHUMT00000206639.1	T	NM_058190		45188036	+1	no_errors	NM_058190	genbank	human	predicted	54_36p	missense	SNP	0.000	C
USP32	84669	genome.wustl.edu	37	17	58284466	58284466	+	Nonsense_Mutation	SNP	G	G	A			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr17:58284466G>A	ENST00000300896.4	-	25	3147	c.2953C>T	c.(2953-2955)Cga>Tga	p.R985*	USP32_ENST00000592339.1_Nonsense_Mutation_p.R655*	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	985	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			ACTGAGAGTCGTACTTTTTGG	0.398																																																0			17											48.0	46.0	47.0					17																	58284466		2203	4298	6501	55639248	SO:0001587	stop_gained	84669			AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.2953C>T	17.37:g.58284466G>A	ENSP00000300896:p.Arg985*		55639248	Q7Z5T3|Q9BX85|Q9Y591	Nonsense_Mutation	SNP	superfamily_SSF47473,HMMSmart_EFh,PatternScan_EF_HAND_1,HMMPfam_efhand,HMMSmart_DUSP,HMMPfam_DUF1055,superfamily_SSF54001,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2	p.R985*	ENST00000300896.4	37	c.2953	CCDS32697.1	17	.	.	.	.	.	.	.	.	.	.	G	44	10.904070	0.99486	.	.	ENSG00000170832	ENST00000300896	.	.	.	5.79	5.79	0.91817	.	0.113453	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.0417	0.97594	0.0:0.0:1.0:0.0	.	.	.	.	X	985	.	ENSP00000300896:R985X	R	-	1	2	USP32	55639248	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	6.537000	0.73847	2.736000	0.93811	0.655000	0.94253	CGA	-	superfamily_SSF54001,HMMPfam_UCH		0.398	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP32	protein_coding	OTTHUMT00000449235.2	G	NM_032582		55639248	-1	no_errors	NM_032582	genbank	human	validated	54_36p	nonsense	SNP	1.000	A
STX16	8675	genome.wustl.edu	37	20	57246351	57246351	+	Nonsense_Mutation	SNP	C	C	T			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr20:57246351C>T	ENST00000371141.4	+	7	1514	c.790C>T	c.(790-792)Cag>Tag	p.Q264*	STX16_ENST00000361770.5_Nonsense_Mutation_p.Q247*|STX16_ENST00000371132.4_Nonsense_Mutation_p.Q243*|STX16_ENST00000358029.4_Nonsense_Mutation_p.Q260*|STX16_ENST00000355957.5_Nonsense_Mutation_p.Q247*|STX16_ENST00000496003.1_Intron|STX16_ENST00000361830.3_Nonsense_Mutation_p.Q264*|STX16_ENST00000359617.4_Nonsense_Mutation_p.Q211*|STX16-NPEPL1_ENST00000530122.1_Nonsense_Mutation_p.Q264*	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	264	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			GATTGTAGAACAGGTACGTGA	0.453																																																0			20											143.0	133.0	136.0					20																	57246351		2203	4300	6503	56679757	SO:0001587	stop_gained	8675			AF038897	CCDS13468.1, CCDS13469.1, CCDS46619.1, CCDS46620.1, CCDS56199.1	20q13.32	2008-07-02			ENSG00000124222	ENSG00000124222			11431	protein-coding gene	gene with protein product		603666				9464276, 9587053, 15800843	Standard	NM_003763		Approved	hsyn16, SYN16	uc002xzi.3	O14662	OTTHUMG00000033084	ENST00000371141.4:c.790C>T	20.37:g.57246351C>T	ENSP00000360183:p.Gln264*		56679757	A6NK32|A6NN69|A8MPP0|B7ZBN1|B7ZBN2|B7ZBN3|E1P5M0|E1P607|O14661|O14663|O60517|Q5W084|Q5W086|Q5W087|Q5XKI6|Q6GMS8|Q9H0Z0|Q9H1T7|Q9H1T8|Q9UIX5	Nonsense_Mutation	SNP	superfamily_t-snare proteins,HMMPfam_Syntaxin,HMMSmart_SM00397,HMMPfam_SNARE,PatternScan_SYNTAXIN	p.Q264*	ENST00000371141.4	37	c.790	CCDS13468.1	20	.	.	.	.	.	.	.	.	.	.	C	43	9.827912	0.99273	.	.	ENSG00000124222	ENST00000355957;ENST00000361770;ENST00000359617;ENST00000371141;ENST00000371138;ENST00000371132;ENST00000358029;ENST00000361830;ENST00000435446	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.0121	0.92877	0.0:1.0:0.0:0.0	.	.	.	.	X	247;247;211;264;211;243;260;264;78	.	ENSP00000360180:Q211X	Q	+	1	0	STX16	56679757	1.000000	0.71417	0.982000	0.44146	0.898000	0.52572	7.484000	0.81180	2.727000	0.93392	0.644000	0.83932	CAG	-	superfamily_t-snare proteins,HMMSmart_SM00397,HMMPfam_SNARE,PatternScan_SYNTAXIN		0.453	STX16-002	KNOWN	basic|CCDS	protein_coding	STX16	protein_coding	OTTHUMT00000080517.2	C	NM_001001433		56679757	+1	no_errors	NM_001001433	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	T
GNAS	2778	genome.wustl.edu	37	20	57430054	57430054	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr20:57430054A>G	ENST00000306120.3	+	1	1544	c.1544A>G	c.(1543-1545)gAg>gGg	p.E515G	GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371102.4_Silent_p.G578G|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Silent_p.G578G|GNAS_ENST00000371100.4_Silent_p.G578G|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371075.3_Intron			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			ACTCCAGCGGAGACGAGTCCG	0.662			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)		Dom	yes		20	20q13.2	2778	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	E	0			20											14.0	19.0	17.0					20																	57430054		2131	4225	6356	56863449	SO:0001583	missense	2778			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000306120.3:c.1544A>G	20.37:g.57430054A>G	ENSP00000302237:p.Glu515Gly		56863449	A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	PatternScan_SECE_SEC61G	p.E516G	ENST00000306120.3	37	c.1547		20	.	.	.	.	.	.	.	.	.	.	A	14.56	2.572917	0.45798	.	.	ENSG00000087460	ENST00000306120	.	.	.	4.37	-2.87	0.05700	.	.	.	.	.	T	0.21062	0.0507	.	.	.	0.19775	N	0.999953	.	.	.	.	.	.	T	0.29518	-1.0009	5	0.26408	T	0.33	.	4.0099	0.09618	0.2799:0.5147:0.0941:0.1113	.	.	.	.	G	515	.	ENSP00000302237:E515G	E	+	2	0	GNAS	56863449	0.000000	0.05858	0.001000	0.08648	0.874000	0.50279	-0.623000	0.05546	-0.452000	0.07087	0.379000	0.24179	GAG	-	NULL		0.662	GNAS-050	PUTATIVE	basic	protein_coding	GNAS	protein_coding	OTTHUMT00000267987.1	A	NM_000516		56863449	+1	no_errors	NM_001077490	genbank	human	reviewed	54_36p	missense	SNP	0.007	G
MON2	23041	genome.wustl.edu	37	12	62954657	62954657	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr12:62954657T>G	ENST00000393632.2	+	26	4187	c.3796T>G	c.(3796-3798)Ttt>Gtt	p.F1266V	MON2_ENST00000552738.1_Missense_Mutation_p.F1243V|MON2_ENST00000393630.3_Missense_Mutation_p.F1267V|MON2_ENST00000280379.6_Missense_Mutation_p.F1267V|MON2_ENST00000546600.1_Missense_Mutation_p.F1266V|MON2_ENST00000393629.2_Missense_Mutation_p.F1266V	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1266					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TAAACTAACTTTTATTCCTAG	0.363																																																0			12											107.0	105.0	106.0					12																	62954657		2203	4300	6503	61240924	SO:0001583	missense	23041				CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.3796T>G	12.37:g.62954657T>G	ENSP00000377252:p.Phe1266Val		61240924	A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	superfamily_ARM-type_fold,HMMPfam_DUF1981	p.F1266V	ENST00000393632.2	37	c.3796	CCDS31849.1	12	.	.	.	.	.	.	.	.	.	.	T	14.69	2.610812	0.46527	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000552738;ENST00000393629	T;T;T;T;T;T	0.54479	0.58;0.58;0.58;0.58;0.57;0.58	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.48059	0.1479	L	0.45581	1.43	0.80722	D	1	B;B;B;B;B	0.26363	0.041;0.068;0.068;0.147;0.115	B;B;B;B;B	0.30943	0.039;0.122;0.039;0.028;0.122	T	0.40776	-0.9545	9	.	.	.	-13.7356	15.0609	0.71951	0.0:0.0:0.0:1.0	.	1266;1243;1266;141;1266	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-3;Q7Z3U7-4	.;.;.;.;.	V	1266;1267;1267;1266;1243;1266	ENSP00000377252:F1266V;ENSP00000377250:F1267V;ENSP00000280379:F1267V;ENSP00000447407:F1266V;ENSP00000449215:F1243V;ENSP00000377249:F1266V	.	F	+	1	0	MON2	61240924	1.000000	0.71417	0.935000	0.37517	0.759000	0.43091	7.787000	0.85759	2.031000	0.59945	0.377000	0.23210	TTT	-	superfamily_ARM-type_fold		0.363	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MON2	protein_coding	OTTHUMT00000406767.3	T	NM_015026		61240924	+1	no_errors	NM_015026	genbank	human	validated	54_36p	missense	SNP	1.000	G
CSN1S1	1446	genome.wustl.edu	37	4	70800427	70800427	+	Splice_Site	SNP	A	A	G			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr4:70800427A>G	ENST00000246891.4	+	4	153	c.104A>G	c.(103-105)gAg>gGg	p.E35G	CSN1S1_ENST00000444405.3_Splice_Site_p.E35G|CSN1S1_ENST00000507763.1_Splice_Site_p.E35G|CSN1S1_ENST00000507772.1_Splice_Site_p.E35G|CSN1S1_ENST00000505782.1_Splice_Site_p.E35G	NM_001890.1	NP_001881.1	P47710	CASA1_HUMAN	casein alpha s1	35						extracellular region (GO:0005576)|extracellular space (GO:0005615)	transporter activity (GO:0005215)			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						GAGAGCAGTGAGGTAAGCTCT	0.348																																																0			4											178.0	172.0	174.0					4																	70800427		1847	4093	5940	70835016	SO:0001630	splice_region_variant	1446			X78416	CCDS47067.1, CCDS54769.1	4q21.1	2014-02-19	2003-01-24	2003-01-31	ENSG00000126545	ENSG00000126545			2445	protein-coding gene	gene with protein product		115450	"""casein, alpha"""	CASA, CSN1		9050925, 7619062	Standard	NM_001890		Approved		uc003hep.1	P47710	OTTHUMG00000160843	ENST00000246891.4:c.105+1A>G	4.37:g.70800427A>G			70835016	A1A510|A1A511|E9PB60|Q4PNR5	Missense_Mutation	SNP	PatternScan_CASEIN_ALPHA_BETA	p.E35G	ENST00000246891.4	37	c.104	CCDS47067.1	4	.	.	.	.	.	.	.	.	.	.	A	13.84	2.356928	0.41801	.	.	ENSG00000126545	ENST00000246891;ENST00000444405;ENST00000354865;ENST00000507763;ENST00000507772;ENST00000505782	T;T;T;T;T	0.54479	0.57;0.59;0.59;0.59;0.58	3.9	3.9	0.45041	.	0.000000	0.43110	D	0.000602	T	0.59528	0.2200	L	0.40543	1.245	0.09310	N	1.0	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.71656	0.974;0.974;0.974	T	0.69525	-0.5122	9	0.59425	D	0.04	-0.6745	9.4401	0.38664	1.0:0.0:0.0:0.0	.	35;35;35	E9PDQ1;E9PB60;P47710	.;.;CASA1_HUMAN	G	35	ENSP00000246891:E35G;ENSP00000413157:E35G;ENSP00000422611:E35G;ENSP00000427490:E35G;ENSP00000426684:E35G	ENSP00000246891:E35G	E	+	2	0	CSN1S1	70835016	0.990000	0.36364	0.945000	0.38365	0.327000	0.28475	3.298000	0.51818	2.005000	0.58758	0.528000	0.53228	GAG	-	NULL		0.348	CSN1S1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSN1S1	protein_coding	OTTHUMT00000362629.1	A		Missense_Mutation	70835016	+1	no_errors	NM_001890	genbank	human	validated	54_36p	missense	SNP	0.539	G
ITGB4	3691	genome.wustl.edu	37	17	73732396	73732396	+	Missense_Mutation	SNP	G	G	C	rs377678641		TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr17:73732396G>C	ENST00000200181.3	+	15	1976	c.1789G>C	c.(1789-1791)Gag>Cag	p.E597Q	ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Missense_Mutation_p.E597Q|ITGB4_ENST00000579662.1_Missense_Mutation_p.E597Q|ITGB4_ENST00000449880.2_Missense_Mutation_p.E597Q|ITGB4_ENST00000450894.3_Missense_Mutation_p.E597Q	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	597	Cysteine-rich tandem repeats.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGGCCACTGTGAGTGTGGCCG	0.632																																																0			17											58.0	62.0	60.0					17																	73732396		2203	4300	6503	71243991	SO:0001583	missense	3691				CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.1789G>C	17.37:g.73732396G>C	ENSP00000200181:p.Glu597Gln		71243991	A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	HMMSmart_SM00423,HMMPfam_Integrin_beta,HMMSmart_SM00187,superfamily_vWA-like,superfamily_Integrin domains,superfamily_EGF/Laminin,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_INTEGRIN_BETA,HMMPfam_EGF_2,superfamily_Integrin beta tail domain,HMMPfam_Integrin_B_tail,HMMPfam_Calx-beta,HMMSmart_SM00237,HMMSmart_SM00060,HMMPfam_fn3,superfamily_Fibronectin type III	p.E597Q	ENST00000200181.3	37	c.1789	CCDS11727.1	17	.	.	.	.	.	.	.	.	.	.	G	12.49	1.952931	0.34471	.	.	ENSG00000132470	ENST00000450894;ENST00000200181;ENST00000339591;ENST00000449880	D;D;D	0.92595	-3.07;-3.07;-3.07	4.6	4.6	0.57074	.	0.327838	0.27654	N	0.018420	D	0.91730	0.7385	L	0.49350	1.555	0.26674	N	0.97168	D;P;P;P;P	0.54601	0.967;0.856;0.935;0.893;0.893	P;P;P;P;P	0.52627	0.632;0.501;0.704;0.51;0.51	D	0.86023	0.1508	10	0.40728	T	0.16	.	12.0975	0.53763	0.0875:0.0:0.9125:0.0	.	557;597;597;597;597	B4E3N0;P16144-5;P16144-3;A0AVL6;P16144	.;.;.;.;ITB4_HUMAN	Q	513;597;597;597	ENSP00000200181:E597Q;ENSP00000344079:E597Q;ENSP00000400217:E597Q	ENSP00000200181:E597Q	E	+	1	0	ITGB4	71243991	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	2.550000	0.45811	2.095000	0.63458	0.558000	0.71614	GAG	-	superfamily_EGF/Laminin,PatternScan_INTEGRIN_BETA		0.632	ITGB4-001	KNOWN	basic|CCDS	protein_coding	ITGB4	protein_coding	OTTHUMT00000448334.1	G			71243991	+1	no_errors	NM_000213	genbank	human	reviewed	54_36p	missense	SNP	0.997	C
QRICH2	84074	genome.wustl.edu	37	17	74278122	74278122	+	Silent	SNP	C	C	T	rs74425099	byFrequency	TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr17:74278122C>T	ENST00000262765.5	-	8	3767	c.3588G>A	c.(3586-3588)ccG>ccA	p.P1196P		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1196										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GGGCCTTGTGCGGGGCCATGC	0.632													C|||	15	0.00299521	0.0113	0.0	5008	,	,		22325	0.0		0.0	False		,,,				2504	0.0															0			17						C		63,4343	59.9+/-96.7	2,59,2142	81.0	73.0	76.0		3588	-11.1	0.0	17	dbSNP_132	76	0,8600		0,0,4300	no	coding-synonymous	QRICH2	NM_032134.1		2,59,6442	TT,TC,CC		0.0,1.4299,0.4844		1196/1664	74278122	63,12943	2203	4300	6503	71789717	SO:0001819	synonymous_variant	84074			AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.3588G>A	17.37:g.74278122C>T			71789717	A2RRE1|Q96LM3	Silent	SNP	NULL	p.P1196	ENST00000262765.5	37	c.3588	CCDS32741.1	17																																																																																			-	NULL		0.632	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	QRICH2	protein_coding	OTTHUMT00000395140.1	C	NM_032134		71789717	-1	no_errors	NM_032134	genbank	human	provisional	54_36p	silent	SNP	0.000	T
CYP26B1	56603	genome.wustl.edu	37	2	72359490	72359490	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr2:72359490G>A	ENST00000001146.2	-	6	1608	c.1405C>T	c.(1405-1407)Cgg>Tgg	p.R469W	CYP26B1_ENST00000412253.1_Missense_Mutation_p.R278W|CYP26B1_ENST00000546307.1_Missense_Mutation_p.R394W	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	469					bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						GGGAAGGTCCGTGTGGCCAGC	0.647																																																0			2											49.0	42.0	44.0					2																	72359490		2203	4300	6503	72212998	SO:0001583	missense	56603				CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"""Cytochrome P450s"""	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.1405C>T	2.37:g.72359490G>A	ENSP00000001146:p.Arg469Trp		72212998	B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Missense_Mutation	SNP	HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450	p.R469W	ENST00000001146.2	37	c.1405	CCDS1919.1	2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.104116	0.76983	.	.	ENSG00000003137	ENST00000001146;ENST00000412253;ENST00000546307	T;T;T	0.69040	-0.37;-0.37;-0.37	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.72293	0.3442	L	0.34521	1.04	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.999;0.999	D;P;D	0.74348	0.983;0.905;0.983	T	0.73433	-0.3984	10	0.66056	D	0.02	2.2421	12.4297	0.55567	0.0:0.0:0.7416:0.2584	.	394;452;469	B7Z2K6;B7Z2P4;Q9NR63	.;.;CP26B_HUMAN	W	469;278;394	ENSP00000001146:R469W;ENSP00000401465:R278W;ENSP00000443304:R394W	ENSP00000001146:R469W	R	-	1	2	CYP26B1	72212998	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	2.329000	0.43876	2.837000	0.97791	0.655000	0.94253	CGG	-	superfamily_Cytochrome_P450		0.647	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP26B1	protein_coding	OTTHUMT00000251969.1	G	NM_019885		72212998	-1	no_errors	NM_019885	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
ASPSCR1	79058	genome.wustl.edu	37	17	79974680	79974680	+	Silent	SNP	C	C	G	rs112403819	byFrequency	TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr17:79974680C>G	ENST00000306739.4	+	14	1507	c.1410C>G	c.(1408-1410)gtC>gtG	p.V470V	STRA13_ENST00000583767.1_5'Flank|ASPSCR1_ENST00000580534.1_Silent_p.V418V|ASPSCR1_ENST00000306729.7_Silent_p.V564V|ASPSCR1_ENST00000582404.1_3'UTR	NM_024083.3	NP_076988.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	470					glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|regulation of glucose import (GO:0046324)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)			ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CTGCAGGTGTCTACCTGGAGC	0.672			T	TFE3	alveolar soft part sarcoma								C|||	25	0.00499201	0.0182	0.0014	5008	,	,		14869	0.0		0.0	False		,,,				2504	0.0						Dom	yes		17	17q25	79058	"""alveolar soft part sarcoma chromosome region, candidate 1"""		M	0			17						C		106,4292	80.9+/-119.3	5,96,2098	43.0	42.0	42.0		1410	3.9	0.9	17	dbSNP_132	42	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	ASPSCR1	NM_024083.2		5,97,6395	GG,GC,CC		0.0116,2.4102,0.8235		470/554	79974680	107,12887	2199	4298	6497	77567969	SO:0001819	synonymous_variant	79058			AF324219	CCDS11796.1, CCDS58611.1	17q25	2011-06-28				ENSG00000169696		"""UBX domain containing"""	13825	protein-coding gene	gene with protein product	"""UBX domain protein 9"""	606236				11244503, 10506710	Standard	NM_024083		Approved	ASPS, ASPL, UBXD9, UBXN9	uc002kcy.3	Q9BZE9		ENST00000306739.4:c.1410C>G	17.37:g.79974680C>G			77567969	A8K3K9|Q7Z6N7|Q8WV59|Q96LS5|Q96M40	Silent	SNP	superfamily_Ubiquitin-like,HMMPfam_UBX	p.V470	ENST00000306739.4	37	c.1410	CCDS11796.1	17																																																																																			-	NULL		0.672	ASPSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPSCR1	protein_coding	OTTHUMT00000441972.1	C	NM_024083		77567969	+1	no_errors	NM_024083	genbank	human	reviewed	54_36p	silent	SNP	0.065	G
PAG1	55824	genome.wustl.edu	37	8	81888951	81888951	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr8:81888951G>T	ENST00000220597.4	-	9	1837	c.1127C>A	c.(1126-1128)gCa>gAa	p.A376E	PAG1_ENST00000523463.1_5'Flank	NM_018440.3	NP_060910.3	Q9NWQ8	PHAG1_HUMAN	phosphoprotein membrane anchor with glycosphingolipid microdomains 1	376					epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)|positive regulation of signal transduction (GO:0009967)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			GGGCCTCCCTGCTGGTGGAAG	0.527																																																0			8											80.0	76.0	77.0					8																	81888951		2203	4300	6503	82051506	SO:0001583	missense	55824			AF240634	CCDS6227.1	8q21.13	2014-04-30	2014-04-30						30043	protein-coding gene	gene with protein product	"""Csk-binding protein"", ""transmembrane adaptor protein PAG"""	605767	"""phosphoprotein associated with glycosphingolipid microdomains 1"""			10790433	Standard	XM_006716461		Approved	PAG, CBP	uc003ybz.3	Q9NWQ8		ENST00000220597.4:c.1127C>A	8.37:g.81888951G>T	ENSP00000220597:p.Ala376Glu		82051506	A8K1A3|Q2M1Z9|Q5BKU4|Q9NYK0	Missense_Mutation	SNP	NULL	p.A376E	ENST00000220597.4	37	c.1127	CCDS6227.1	8	.	.	.	.	.	.	.	.	.	.	G	7.278	0.608520	0.14002	.	.	ENSG00000076641	ENST00000220597	.	.	.	4.52	3.64	0.41730	.	0.552403	0.20377	N	0.093540	T	0.32010	0.0815	M	0.63428	1.95	0.09310	N	0.999999	P	0.48503	0.911	P	0.47705	0.555	T	0.25433	-1.0132	9	0.02654	T	1	-17.9061	4.153	0.10247	0.2653:0.1775:0.5572:0.0	.	376	Q9NWQ8	PAG1_HUMAN	E	376	.	ENSP00000220597:A376E	A	-	2	0	PAG1	82051506	0.487000	0.25988	0.036000	0.18154	0.016000	0.09150	1.810000	0.38932	1.241000	0.43820	0.655000	0.94253	GCA	-	NULL		0.527	PAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAG1	protein_coding	OTTHUMT00000379352.3	G	NM_018440		82051506	-1	no_errors	NM_018440	genbank	human	reviewed	54_36p	missense	SNP	0.118	T
ANKS1B	56899	genome.wustl.edu	37	12	99640163	99640163	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr12:99640163G>T	ENST00000547776.2	-	13	2235	c.2236C>A	c.(2236-2238)Cct>Act	p.P746T	ANKS1B_ENST00000547010.1_Missense_Mutation_p.P326T|ANKS1B_ENST00000329257.7_Missense_Mutation_p.P746T|ANKS1B_ENST00000550833.1_5'Flank	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	746						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TCATTGGAAGGATAGGCAATG	0.413																																																0			12											97.0	92.0	94.0					12																	99640163		1919	4104	6023	98164294	SO:0001583	missense	56899			AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.2236C>A	12.37:g.99640163G>T	ENSP00000449629:p.Pro746Thr		98164294	A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1,superfamily_PH domain-like,HMMSmart_SM00462,HMMPfam_PID	p.P746T	ENST00000547776.2	37	c.2236	CCDS55872.1	12	.	.	.	.	.	.	.	.	.	.	G	13.45	2.242116	0.39598	.	.	ENSG00000185046	ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702	T;T;T	0.64618	0.7;-0.11;0.71	5.21	5.21	0.72293	.	0.067276	0.64402	D	0.000009	T	0.68952	0.3057	L	0.46157	1.445	0.80722	D	1	D;P	0.55385	0.971;0.689	P;B	0.56127	0.792;0.223	T	0.66712	-0.5854	9	.	.	.	-8.2951	17.2978	0.87173	0.0:0.0:1.0:0.0	.	326;746	Q7Z6G8-6;Q7Z6G8	.;ANS1B_HUMAN	T	746;326;746;325	ENSP00000449629:P746T;ENSP00000448512:P326T;ENSP00000331381:P746T	.	P	-	1	0	ANKS1B	98164294	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	5.538000	0.67193	2.586000	0.87340	0.462000	0.41574	CCT	-	NULL		0.413	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	ANKS1B	protein_coding	OTTHUMT00000408421.3	G	NM_020140		98164294	-1	no_errors	NM_152788	genbank	human	validated	54_36p	missense	SNP	1.000	T
PLPPR4	9890	genome.wustl.edu	37	1	99772177	99772177	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr1:99772177C>G	ENST00000370185.3	+	7	2400	c.1903C>G	c.(1903-1905)Cag>Gag	p.Q635E	LPPR4_ENST00000370184.1_Missense_Mutation_p.Q477E|LPPR4_ENST00000457765.1_Missense_Mutation_p.Q577E	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		635					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		GCCCATCATACAGATCCCGTC	0.547																																																0			1											85.0	81.0	82.0					1																	99772177		2203	4300	6503	99544765	SO:0001583	missense	9890																														ENST00000370185.3:c.1903C>G	1.37:g.99772177C>G	ENSP00000359204:p.Gln635Glu		99544765	E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	superfamily_Acid phosphatase/Vanadium-dependent haloperoxidase,HMMPfam_PAP2,HMMSmart_SM00014	p.Q635E	ENST00000370185.3	37	c.1903	CCDS757.1	1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.863059	0.51482	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000370184	T;T;T	0.23348	2.48;2.46;1.91	5.9	5.9	0.94986	.	0.064020	0.64402	N	0.000008	T	0.11537	0.0281	N	0.22421	0.69	0.58432	D	0.999996	B;B	0.28801	0.223;0.027	B;B	0.31101	0.124;0.012	T	0.11203	-1.0597	9	.	.	.	-25.3819	20.2822	0.98520	0.0:1.0:0.0:0.0	.	577;635	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	E	635;577;477	ENSP00000359204:Q635E;ENSP00000394913:Q577E;ENSP00000359203:Q477E	.	Q	+	1	0	RP4-788L13.1	99544765	1.000000	0.71417	0.975000	0.42487	0.977000	0.68977	5.674000	0.68117	2.806000	0.96561	0.655000	0.94253	CAG	-	NULL		0.547	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPPR4	protein_coding	OTTHUMT00000029670.2	C			99544765	+1	no_errors	NM_014839	genbank	human	reviewed	54_36p	missense	SNP	0.955	G
ZNF462	58499	genome.wustl.edu	37	9	109692888	109692888	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr9:109692888A>G	ENST00000277225.5	+	4	6219	c.5930A>G	c.(5929-5931)cAc>cGc	p.H1977R	ZNF462_ENST00000457913.1_Missense_Mutation_p.H1977R|ZNF462_ENST00000542028.1_5'Flank|ZNF462_ENST00000497489.1_3'UTR|ZNF462_ENST00000441147.2_Missense_Mutation_p.H822R			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1977					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GTGGAAGTGCACCCAACGCTC	0.498																																																0			9											176.0	151.0	160.0					9																	109692888		2203	4300	6503	108732709	SO:0001583	missense	58499			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.5930A>G	9.37:g.109692888A>G	ENSP00000277225:p.His1977Arg		108732709	Q5T0T4|Q8N408	Missense_Mutation	SNP	superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_beta-sandwich domain of Sec23/24	p.H1977R	ENST00000277225.5	37	c.5930	CCDS35096.1	9	.	.	.	.	.	.	.	.	.	.	A	17.12	3.306961	0.60305	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147	T;T;T;T	0.05580	3.42;3.71;3.72;3.89	5.5	5.5	0.81552	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.16471	0.0396	L	0.32530	0.975	0.80722	D	1	P;D	0.71674	0.804;0.998	B;D	0.76071	0.408;0.987	T	0.01249	-1.1406	10	0.52906	T	0.07	.	15.6084	0.76692	1.0:0.0:0.0:0.0	.	1977;1977	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	R	1977;1977;860;822	ENSP00000277225:H1977R;ENSP00000414570:H1977R;ENSP00000363818:H860R;ENSP00000397306:H822R	ENSP00000277225:H1977R	H	+	2	0	ZNF462	108732709	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.893000	0.92498	2.099000	0.63709	0.533000	0.62120	CAC	-	superfamily_beta-sandwich domain of Sec23/24,HMMSmart_SM00355		0.498	ZNF462-001	KNOWN	basic|CCDS	protein_coding	ZNF462	protein_coding	OTTHUMT00000053532.2	A	NM_021224		108732709	+1	no_errors	NM_021224	genbank	human	validated	54_36p	missense	SNP	1.000	G
CHIAP2	149620	genome.wustl.edu	37	1	111825277	111825277	+	RNA	SNP	C	C	T			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr1:111825277C>T	ENST00000369743.4	+	0	1066					NR_003928.1				chitinase, acidic pseudogene 2																		ATGAGTTTGACGGGCTGGACT	0.527																																																0			1																																								111626800			0					1p13.2	2012-10-11			ENSG00000203878	ENSG00000203878			44463	pseudogene	pseudogene							Standard	NR_003928		Approved		uc009wgb.3		OTTHUMG00000012173		1.37:g.111825277C>T			111626800		Silent	SNP	HMMSmart_SM00636,HMMPfam_Glyco_hydro_18,superfamily_(Trans)glycosidases,PatternScan_CHITINASE_18	p.D69	ENST00000369743.4	37	c.207		1																																																																																			-	HMMSmart_SM00636,HMMPfam_Glyco_hydro_18,superfamily_(Trans)glycosidases,PatternScan_CHITINASE_18		0.527	CHIAP2-001	KNOWN	basic	processed_transcript	ENSG00000203878	pseudogene	OTTHUMT00000033667.3	C			111626800	+1	no_errors	ENST00000369743	ensembl	human	known	54_36p	silent	SNP	0.997	T
APC	324	genome.wustl.edu	37	5	112179713	112179713	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr5:112179713C>G	ENST00000457016.1	+	16	8802	c.8422C>G	c.(8422-8424)Cca>Gca	p.P2808A	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.P2808A|APC_ENST00000508376.2_Missense_Mutation_p.P2808A			P25054	APC_HUMAN	adenomatous polyposis coli	2808	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GATCCCAACTCCAGTGAATAA	0.488		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	1	Unknown(1)	skin(1)	5											84.0	87.0	86.0					5																	112179713		2202	4300	6502	112207612	SO:0001583	missense	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.8422C>G	5.37:g.112179713C>G	ENSP00000413133:p.Pro2808Ala		112207612	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	superfamily_ARM repeat,HMMSmart_SM00185,HMMPfam_Arm,HMMPfam_APC_15aa,HMMPfam_APC_crr,HMMPfam_SAMP,HMMPfam_APC_basic,HMMPfam_EB1_binding	p.P2808A	ENST00000457016.1	37	c.8422	CCDS4107.1	5	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365891	0.61513	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.83591	-1.74;-1.74;-1.74	5.92	5.92	0.95590	EB-1 binding (1);	0.000000	0.85682	D	0.000000	D	0.87466	0.6184	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.992	D	0.84989	0.0893	9	.	.	.	-16.6529	20.3248	0.98698	0.0:1.0:0.0:0.0	.	2810;2808	Q4LE70;P25054	.;APC_HUMAN	A	2808	ENSP00000413133:P2808A;ENSP00000257430:P2808A;ENSP00000427089:P2808A	.	P	+	1	0	APC	112207612	1.000000	0.71417	0.554000	0.28268	0.992000	0.81027	5.219000	0.65262	2.818000	0.97014	0.655000	0.94253	CCA	-	HMMPfam_EB1_binding		0.488	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	protein_coding	OTTHUMT00000250738.2	C	NM_000038		112207612	+1	no_errors	NM_000038	genbank	human	reviewed	54_36p	missense	SNP	0.960	G
BRINP1	1620	genome.wustl.edu	37	9	121929582	121929582	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr9:121929582G>C	ENST00000265922.3	-	8	2527	c.2066C>G	c.(2065-2067)tCt>tGt	p.S689C	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	689					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											CACTGACGAAGAGGAATAGAA	0.577																																																0			9											137.0	132.0	133.0					9																	121929582		2203	4300	6503	120969403	SO:0001583	missense	1620			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.2066C>G	9.37:g.121929582G>C	ENSP00000265922:p.Ser689Cys		120969403	Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	HMMSmart_SM00457	p.S689C	ENST00000265922.3	37	c.2066	CCDS6822.1	9	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262321	0.39995	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.15603	2.41	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.19248	0.0462	L	0.36672	1.1	0.80722	D	1	B	0.21225	0.053	B	0.20184	0.028	T	0.02625	-1.1132	10	0.72032	D	0.01	-13.6676	20.2921	0.98543	0.0:0.0:1.0:0.0	.	689	O60477	DBC1_HUMAN	C	689	ENSP00000265922:S689C	ENSP00000265922:S689C	S	-	2	0	DBC1	120969403	1.000000	0.71417	0.627000	0.29227	0.406000	0.30931	5.394000	0.66285	2.879000	0.98667	0.650000	0.86243	TCT	-	NULL		0.577	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBC1	protein_coding	OTTHUMT00000055440.2	G	NM_014618		120969403	-1	no_errors	NM_014618	genbank	human	validated	54_36p	missense	SNP	1.000	C
BRINP1	1620	genome.wustl.edu	37	9	122001026	122001026	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr9:122001026G>A	ENST00000265922.3	-	5	1053	c.592C>T	c.(592-594)Cgc>Tgc	p.R198C	BRINP1_ENST00000373964.2_Missense_Mutation_p.R198C	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	198	MACPF.				cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											GGCCCAGTGCGTGTCTCTGTG	0.507																																																0			9											104.0	77.0	86.0					9																	122001026		2203	4300	6503	121040847	SO:0001583	missense	1620			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.592C>T	9.37:g.122001026G>A	ENSP00000265922:p.Arg198Cys		121040847	Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	HMMSmart_SM00457	p.R198C	ENST00000265922.3	37	c.592	CCDS6822.1	9	.	.	.	.	.	.	.	.	.	.	G	25.7	4.665673	0.88251	.	.	ENSG00000078725	ENST00000373969;ENST00000265922;ENST00000373964	T;T	0.56275	2.12;0.47	5.91	5.91	0.95273	Membrane attack complex component/perforin (MACPF) domain (1);	0.000000	0.85682	D	0.000000	T	0.72153	0.3425	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	T	0.72833	-0.4173	10	0.87932	D	0	-21.6133	19.2777	0.94039	0.0:0.0:1.0:0.0	.	198;198	O60477-2;O60477	.;DBC1_HUMAN	C	198	ENSP00000265922:R198C;ENSP00000363075:R198C	ENSP00000265922:R198C	R	-	1	0	DBC1	121040847	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.297000	0.72757	2.794000	0.96219	0.655000	0.94253	CGC	-	HMMSmart_SM00457		0.507	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBC1	protein_coding	OTTHUMT00000055440.2	G	NM_014618		121040847	-1	no_errors	NM_014618	genbank	human	validated	54_36p	missense	SNP	1.000	A
SNTB1	6641	genome.wustl.edu	37	8	121587372	121587372	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr8:121587372C>T	ENST00000395601.3	-	5	1504	c.1090G>A	c.(1090-1092)Gaa>Aaa	p.E364K	SNTB1_ENST00000517992.1_Missense_Mutation_p.E364K|SNTB1_ENST00000519177.1_5'UTR	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	364	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|protein complex (GO:0043234)|synapse (GO:0045202)				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			AACCAGGCTTCCTTCCTCCGT	0.488																																																0			8											196.0	176.0	183.0					8																	121587372		2203	4300	6503	121656553	SO:0001583	missense	6641			AF028828	CCDS6334.1	8q23-q24	2013-01-10	2002-08-29		ENSG00000172164	ENSG00000172164		"""Pleckstrin homology (PH) domain containing"""	11168	protein-coding gene	gene with protein product	"""tax interaction protein 43"""	600026	"""syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic component 1)"""	SNT2B1		8183929, 9482110	Standard	NM_021021		Approved	59-DAP, A1B, BSYN2, TIP-43, SNT2	uc010mdg.3	Q13884	OTTHUMG00000165041	ENST00000395601.3:c.1090G>A	8.37:g.121587372C>T	ENSP00000378965:p.Glu364Lys		121656553	A8K9E0|O14912|Q4KMG8	Missense_Mutation	SNP	HMMSmart_SM00233,superfamily_PH domain-like,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,HMMPfam_PH	p.E364K	ENST00000395601.3	37	c.1090	CCDS6334.1	8	.	.	.	.	.	.	.	.	.	.	C	36	5.707944	0.96821	.	.	ENSG00000172164	ENST00000395601;ENST00000517992	T;T	0.73047	-0.71;-0.71	6.01	6.01	0.97437	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.044750	0.85682	D	0.000000	D	0.83280	0.5220	M	0.73598	2.24	0.80722	D	1	D;D	0.56521	0.976;0.971	P;P	0.62560	0.904;0.832	T	0.80004	-0.1564	10	0.34782	T	0.22	.	20.5211	0.99222	0.0:1.0:0.0:0.0	.	364;364	Q13884;Q13884-2	SNTB1_HUMAN;.	K	364	ENSP00000378965:E364K;ENSP00000431124:E364K	ENSP00000378965:E364K	E	-	1	0	SNTB1	121656553	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.103000	0.77014	2.861000	0.98227	0.650000	0.86243	GAA	-	superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233		0.488	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTB1	protein_coding	OTTHUMT00000381535.1	C	NM_021021		121656553	-1	no_errors	NM_021021	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
Unknown	0	genome.wustl.edu	37	10	124489059	124489059	+	IGR	SNP	T	T	C	rs74866517	byFrequency	TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr10:124489059T>C								C10orf120 (29721 upstream) : RP11-318C4.2 (27150 downstream)																							GAGAAGGAAGTGCAGGTGGTG	0.607													C|||	733	0.146366	0.1982	0.1643	5008	,	,		17910	0.12		0.1024	False		,,,				2504	0.136															0			10																																								124479049	SO:0001628	intergenic_variant	0																															10.37:g.124489059T>C			124479049		Missense_Mutation	SNP	superfamily_SRCR-like,HMMSmart_SM00202,HMMPfam_SRCR,PatternScan_SRCR_1	p.V93A		37	c.278		10																																																																																			-	superfamily_SRCR-like,HMMSmart_SM00202,HMMPfam_SRCR,PatternScan_SRCR_1	0	0.607					LOC729794			T			124479049	+1	no_errors	XM_001718748	genbank	human	model	54_36p	missense	SNP	0.900	C
SQLE	6713	genome.wustl.edu	37	8	126034143	126034143	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr8:126034143A>G	ENST00000265896.5	+	11	2579	c.1681A>G	c.(1681-1683)Ata>Gta	p.I561V	SQLE_ENST00000523430.1_Missense_Mutation_p.I466V	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	561					cellular aromatic compound metabolic process (GO:0006725)|cholesterol biosynthetic process (GO:0006695)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|squalene monooxygenase activity (GO:0004506)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	GTGTTCTGTAATATTTCCTCT	0.363																																																0			8											113.0	100.0	104.0					8																	126034143		1841	4080	5921	126103325	SO:0001583	missense	6713			D78130	CCDS47918.1	8q24.1	2014-06-23			ENSG00000104549	ENSG00000104549	1.14.13.132		11279	protein-coding gene	gene with protein product	"""squalene monooxygenase"""	602019				9286711	Standard	NM_003129		Approved		uc011liq.2	Q14534	OTTHUMG00000164990	ENST00000265896.5:c.1681A>G	8.37:g.126034143A>G	ENSP00000265896:p.Ile561Val		126103325	Q9UEK6	Missense_Mutation	SNP	superfamily_FAD/NAD(P)-binding domain,HMMPfam_DAO,HMMPfam_SE	p.I560V	ENST00000265896.5	37	c.1678	CCDS47918.1	8	.	.	.	.	.	.	.	.	.	.	A	10.51	1.371387	0.24771	.	.	ENSG00000104549	ENST00000523430;ENST00000265896;ENST00000541193	.	.	.	5.6	-4.54	0.03452	.	0.245292	0.53938	D	0.000046	T	0.37812	0.1017	M	0.74258	2.255	0.28880	N	0.894457	B	0.33345	0.409	B	0.29353	0.101	T	0.34775	-0.9815	9	0.54805	T	0.06	-4.9967	8.0702	0.30685	0.3067:0.2026:0.0:0.4907	.	561	Q14534	ERG1_HUMAN	V	466;561;366	.	ENSP00000265896:I561V	I	+	1	0	SQLE	126103325	0.401000	0.25303	0.044000	0.18714	0.165000	0.22458	0.771000	0.26633	-0.480000	0.06803	-0.468000	0.05107	ATA	-	NULL		0.363	SQLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SQLE	protein_coding	OTTHUMT00000381362.1	A	NM_003129		126103325	+1	no_errors	ENST00000265896	ensembl	human	known	54_36p	missense	SNP	0.937	G
WDR33	55339	genome.wustl.edu	37	2	128528402	128528402	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr2:128528402C>G	ENST00000322313.4	-	2	312	c.154G>C	c.(154-156)Gtg>Ctg	p.V52L	WDR33_ENST00000409658.3_Missense_Mutation_p.V52L|WDR33_ENST00000393006.1_Missense_Mutation_p.V52L	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	52					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TTTCGGTTCACAGCTTTTCTC	0.388																																																0			2											126.0	116.0	119.0					2																	128528402		2203	4300	6503	128244872	SO:0001583	missense	55339				CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.154G>C	2.37:g.128528402C>G	ENSP00000325377:p.Val52Leu		128244872	Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	PatternScan_WD_REPEATS_1,superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,HMMPfam_Collagen	p.V52L	ENST00000322313.4	37	c.154	CCDS2150.1	2	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344068	0.82022	.	.	ENSG00000136709	ENST00000322313;ENST00000393006;ENST00000409658;ENST00000408998	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.68192	0.2974	M	0.67700	2.07	0.80722	D	1	B;B;D	0.58970	0.134;0.012;0.984	B;B;D	0.68192	0.147;0.022;0.956	T	0.66634	-0.5874	10	0.48119	T	0.1	-5.3261	19.7303	0.96180	0.0:1.0:0.0:0.0	.	52;52;52	Q9C0J8-2;Q6NUQ0;Q9C0J8	.;.;WDR33_HUMAN	L	52	ENSP00000325377:V52L;ENSP00000376730:V52L;ENSP00000387186:V52L;ENSP00000386861:V52L	ENSP00000325377:V52L	V	-	1	0	WDR33	128244872	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.704000	0.84595	2.671000	0.90904	0.591000	0.81541	GTG	-	NULL		0.388	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR33	protein_coding	OTTHUMT00000331141.2	C	NM_018383		128244872	-1	no_errors	NM_018383	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
USP20	10868	genome.wustl.edu	37	9	132632062	132632062	+	Missense_Mutation	SNP	G	G	A	rs193265694	byFrequency	TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr9:132632062G>A	ENST00000315480.4	+	14	1662	c.1504G>A	c.(1504-1506)Gcc>Acc	p.A502T	USP20_ENST00000372429.3_Missense_Mutation_p.A502T|USP20_ENST00000358355.1_Missense_Mutation_p.A502T			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	502	USP.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CAAGCCAGGCGCCTGTGGGGA	0.612													G|||	13	0.00259585	0.0083	0.0029	5008	,	,		18607	0.0		0.0	False		,,,				2504	0.0															0			9						G	THR/ALA,THR/ALA,THR/ALA	17,3819		0,17,1901	63.0	66.0	65.0		1504,1504,1504	-4.5	0.0	9		65	0,8210		0,0,4105	yes	missense,missense,missense	USP20	NM_001008563.3,NM_001110303.2,NM_006676.6	58,58,58	0,17,6006	AA,AG,GG		0.0,0.4432,0.1411	benign,benign,benign	502/915,502/915,502/915	132632062	17,12029	1918	4105	6023	131671883	SO:0001583	missense	10868			AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"""Ubiquitin-specific peptidases"""	12619	protein-coding gene	gene with protein product		615143	"""ubiquitin specific protease 20"""			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.1504G>A	9.37:g.132632062G>A	ENSP00000313811:p.Ala502Thr		131671883	Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Missense_Mutation	SNP	HMMPfam_zf-UBP,superfamily_SSF54001,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2,HMMSmart_DUSP	p.A502T	ENST00000315480.4	37	c.1504	CCDS43892.1	9	4	0.0018315018315018315	1	0.0020325203252032522	2	0.0055248618784530384	0	0.0	1	0.0013192612137203166	G	1.614	-0.523273	0.04141	0.004432	0.0	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	T;T;T	0.17854	2.25;2.25;2.25	4.84	-4.49	0.03504	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.659654	0.16515	N	0.211082	T	0.02267	0.0070	N	0.01134	-0.995	0.24412	N	0.994653	B	0.02656	0.0	B	0.04013	0.001	T	0.37842	-0.9688	10	0.15066	T	0.55	.	5.1601	0.15056	0.4651:0.0:0.3123:0.2227	.	502	Q9Y2K6	UBP20_HUMAN	T	502	ENSP00000361506:A502T;ENSP00000313811:A502T;ENSP00000351122:A502T	ENSP00000313811:A502T	A	+	1	0	USP20	131671883	0.001000	0.12720	0.006000	0.13384	0.197000	0.23852	-0.117000	0.10708	-0.900000	0.03896	-1.804000	0.00617	GCC	-	superfamily_SSF54001,HMMPfam_UCH		0.612	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	USP20	protein_coding	OTTHUMT00000054604.2	G			131671883	+1	no_errors	NM_001008563	genbank	human	validated	54_36p	missense	SNP	0.025	A
FMO5	2330	genome.wustl.edu	37	1	146675238	146675238	+	Intron	SNP	T	T	A			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr1:146675238T>A	ENST00000254090.4	-	7	1219				RP11-337C18.10_ENST00000606856.1_RNA|FMO5_ENST00000441068.2_Intron|RP11-337C18.8_ENST00000607149.1_RNA|RP11-337C18.8_ENST00000606757.1_RNA|FMO5_ENST00000369272.3_Intron	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					TGTCTCTCCATATGATGTGAT	0.423																																																0			1																																								145141862	SO:0001627	intron_variant	644131			Z47553	CCDS926.1, CCDS44209.1, CCDS44210.1	1q21.1	2011-08-04			ENSG00000131781	ENSG00000131781			3773	protein-coding gene	gene with protein product		603957				8786146, 9119381	Standard	NM_001461		Approved		uc001epi.2	P49326	OTTHUMG00000014607	ENST00000254090.4:c.831-2152A>T	1.37:g.146675238T>A			145141862	B2RBG1|C9JJD1|Q8IV22	RNA	SNP	-	NULL	ENST00000254090.4	37	NULL	CCDS926.1	1																																																																																			-	-		0.423	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC644131	protein_coding	OTTHUMT00000040373.2	T	NM_001461		145141862	-1	no_errors	XR_017481	genbank	human	model	54_36p	rna	SNP	1.000	A
TCP1	6950	genome.wustl.edu	37	6	160206972	160206972	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr6:160206972G>T	ENST00000321394.7	-	4	617	c.337C>A	c.(337-339)Cat>Aat	p.H113N	TCP1_ENST00000546023.1_5'Flank|SNORA29_ENST00000384183.1_RNA|TCP1_ENST00000544255.1_Intron|TCP1_ENST00000392168.2_5'UTR|TCP1_ENST00000420894.2_Missense_Mutation_p.H113N	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	113					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|tubulin complex assembly (GO:0007021)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|nuclear heterochromatin (GO:0005720)|pericentriolar material (GO:0000242)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		GATGTGGGATGAATTTTCTGT	0.353																																																0			6											133.0	114.0	121.0					6																	160206972		2203	4298	6501	160126962	SO:0001583	missense	6950			X52882	CCDS5269.1, CCDS43522.1	6q25-q27	2012-10-02			ENSG00000120438	ENSG00000120438		"""Heat Shock Proteins / Chaperonins"""	11655	protein-coding gene	gene with protein product		186980				3476253, 3653076	Standard	NM_030752		Approved	D6S230E, CCT1, Ccta	uc003qsr.3	P17987	OTTHUMG00000015937	ENST00000321394.7:c.337C>A	6.37:g.160206972G>T	ENSP00000317334:p.His113Asn		160126962	E1P5B2|Q15556|Q5TCM3	Missense_Mutation	SNP	superfamily_GroEL-ATPase,HMMPfam_Cpn60_TCP1,PatternScan_TCP1_1,PatternScan_TCP1_2,PatternScan_TCP1_3,superfamily_SSF54849,superfamily_SSF52029	p.H113N	ENST00000321394.7	37	c.337	CCDS5269.1	6	.	.	.	.	.	.	.	.	.	.	G	27.5	4.839438	0.91117	.	.	ENSG00000120438	ENST00000321394;ENST00000420894;ENST00000539948;ENST00000537390;ENST00000536394	T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.93808	0.8020	H	0.98068	4.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95547	0.8617	10	0.87932	D	0	-23.7863	19.6634	0.95882	0.0:0.0:1.0:0.0	.	113;113	E7ERF2;P17987	.;TCPA_HUMAN	N	113;113;91;91;91	ENSP00000317334:H113N;ENSP00000390159:H113N;ENSP00000439671:H91N;ENSP00000437840:H91N;ENSP00000442856:H91N	ENSP00000317334:H113N	H	-	1	0	TCP1	160126962	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	9.397000	0.97276	2.720000	0.93068	0.655000	0.94253	CAT	-	superfamily_GroEL-ATPase,HMMPfam_Cpn60_TCP1		0.353	TCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCP1	protein_coding	OTTHUMT00000042917.2	G	NM_030752		160126962	-1	no_errors	NM_030752	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
GRB14	2888	genome.wustl.edu	37	2	165365061	165365061	+	Splice_Site	SNP	C	C	A			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr2:165365061C>A	ENST00000263915.3	-	8	1466		c.e8-1		GRB14_ENST00000543549.1_Splice_Site	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14						blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						CTTTGTTAGGCTAGAAGGCCA	0.438																																																0			2											69.0	66.0	67.0					2																	165365061		2203	4300	6503	165073307	SO:0001630	splice_region_variant	2888				CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.928-1G>T	2.37:g.165365061C>A			165073307	B7Z7F9|Q7Z6I1	Splice_Site	SNP	-	e8-1	ENST00000263915.3	37	c.928-1	CCDS2222.1	2	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195236	0.78902	.	.	ENSG00000115290	ENST00000263915;ENST00000543549;ENST00000446413	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1454	0.98074	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GRB14	165073307	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.113000	0.64640	2.748000	0.94277	0.650000	0.86243	.	-	-		0.438	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRB14	protein_coding	OTTHUMT00000255180.2	C		Intron	165073307	-1	no_errors	NM_004490	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	A
MGAT1	4245	genome.wustl.edu	37	5	180219792	180219792	+	Silent	SNP	G	G	A	rs78691485	byFrequency	TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr5:180219792G>A	ENST00000446023.2	-	3	930	c.180C>T	c.(178-180)gaC>gaT	p.D60D	MGAT1_ENST00000307826.4_Silent_p.D60D|MGAT1_ENST00000393340.3_Silent_p.D60D|MGAT1_ENST00000333055.3_Silent_p.D60D|MGAT1_ENST00000427865.2_Silent_p.D60D	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	60					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine catabolic process (GO:0006049)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	acetylglucosaminyltransferase activity (GO:0008375)|alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0003827)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCACCTCGGCGTCTTGGGCCA	0.726													G|||	86	0.0171725	0.0628	0.0043	5008	,	,		14717	0.0		0.0	False		,,,				2504	0.0															0			5						G	,,,,	139,4109		0,139,1985	9.0	8.0	8.0		180,180,180,180,180	-9.5	0.0	5	dbSNP_131	8	6,8360		0,6,4177	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MGAT1	NM_001114617.1,NM_001114618.1,NM_001114619.1,NM_001114620.1,NM_002406.3	,,,,	0,145,6162	AA,AG,GG		0.0717,3.2721,1.1495	,,,,	60/446,60/446,60/446,60/446,60/446	180219792	145,12469	2124	4183	6307	180152398	SO:0001819	synonymous_variant	4245			M61829	CCDS4458.1	5q35.3	2013-02-25			ENSG00000131446	ENSG00000131446	2.4.1.101	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7044	protein-coding gene	gene with protein product		160995		MGAT, GLYT1		1827260	Standard	NM_002406		Approved	GNT-1, GLCNAC-TI	uc003mmg.4	P26572	OTTHUMG00000130937	ENST00000446023.2:c.180C>T	5.37:g.180219792G>A			180152398	A8K404|B3KRU8|D3DWR1|Q6IBE3	Silent	SNP	HMMPfam_GNT-I,superfamily_SSF53448	p.D60	ENST00000446023.2	37	c.180	CCDS4458.1	5																																																																																			-	HMMPfam_GNT-I		0.726	MGAT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MGAT1	protein_coding	OTTHUMT00000368189.1	G	NM_001114618		180152398	-1	no_errors	NM_002406	genbank	human	reviewed	54_36p	silent	SNP	0.006	A
ORC2	4999	genome.wustl.edu	37	2	201785062	201785062	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr2:201785062G>A	ENST00000234296.2	-	15	1598	c.1349C>T	c.(1348-1350)aCa>aTa	p.T450I		NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	450					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	condensed chromosome inner kinetochore (GO:0000939)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	DNA replication origin binding (GO:0003688)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						AGGACTGTATGTAGTAGTTTC	0.388																																																0			2											107.0	112.0	110.0					2																	201785062		2203	4300	6503	201493307	SO:0001583	missense	4999				CCDS2334.1	2q33	2010-10-12	2010-10-12	2010-10-12	ENSG00000115942	ENSG00000115942			8488	protein-coding gene	gene with protein product		601182	"""origin recognition complex, subunit 2 (yeast homolog)-like"", ""origin recognition complex, subunit 2-like (yeast)"", ""origin recognition complex, subunit 2 homolog (yeast)"""	ORC2L		8808289	Standard	NM_006190		Approved		uc002uwr.3	Q13416	OTTHUMG00000132783	ENST00000234296.2:c.1349C>T	2.37:g.201785062G>A	ENSP00000234296:p.Thr450Ile		201493307	Q13204|Q53TX5	Missense_Mutation	SNP	HMMPfam_ORC2	p.T450I	ENST00000234296.2	37	c.1349	CCDS2334.1	2	.	.	.	.	.	.	.	.	.	.	G	33	5.244375	0.95272	.	.	ENSG00000115942	ENST00000234296	T	0.65364	-0.15	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.85097	0.5619	M	0.92880	3.355	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.996;0.997	D	0.87798	0.2623	10	0.87932	D	0	-13.3751	20.089	0.97809	0.0:0.0:1.0:0.0	.	450;450	B4DYU9;Q13416	.;ORC2_HUMAN	I	450	ENSP00000234296:T450I	ENSP00000234296:T450I	T	-	2	0	ORC2	201493307	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.869000	0.99810	2.752000	0.94435	0.557000	0.71058	ACA	-	HMMPfam_ORC2		0.388	ORC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORC2L	protein_coding	OTTHUMT00000256191.2	G	NM_006190		201493307	-1	no_errors	NM_006190	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
ADCK3	56997	genome.wustl.edu	37	1	227174165	227174165	+	Silent	SNP	C	C	T	rs370899166		TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr1:227174165C>T	ENST00000366779.1	+	20	4442	c.1671C>T	c.(1669-1671)gaC>gaT	p.D557D	ADCK3_ENST00000458507.2_Silent_p.D278D|ADCK3_ENST00000366778.1_Silent_p.D505D|ADCK3_ENST00000433743.2_Silent_p.D231D|ADCK3_ENST00000478406.1_3'UTR|ADCK3_ENST00000366777.3_Silent_p.D557D			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	557					cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						TCATGGAAGACGCCCACTTGG	0.602																																																0			1						C		0,4406		0,0,2203	83.0	86.0	85.0		1671	-2.4	1.0	1		85	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADCK3	NM_020247.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		557/648	227174165	1,13005	2203	4300	6503	225240788	SO:0001819	synonymous_variant	56997			AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"""coenzyme Q8 homolog (yeast)"""	606980	"""chaperone-ABC1 (activity of bc1 complex, S.pombe)-like"", ""chaperone, ABC1 activity of bc1 complex like (S. pombe)"", ""chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"""	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.1671C>T	1.37:g.227174165C>T			225240788	Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	Silent	SNP	HMMPfam_ABC1,superfamily_Protein kinase-like (PK-like)	p.D557	ENST00000366779.1	37	c.1671	CCDS1557.1	1																																																																																			-	NULL		0.602	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CABC1	protein_coding	OTTHUMT00000091712.1	C	NM_020247		225240788	+1	no_errors	NM_020247	genbank	human	reviewed	54_36p	silent	SNP	0.998	T
AQP12B	653437	genome.wustl.edu	37	2	241622307	241622307	+	5'UTR	SNP	C	C	T			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr2:241622307C>T	ENST00000407834.3	-	0	10					NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN	aquaporin 12B							integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		GGGGACAGAGCAGGAGCTGGC	0.667																																																0			2																																								241270980	SO:0001623	5_prime_UTR_variant	285192			BC041460	CCDS46560.1	2q37.3	2007-12-14	2005-05-26	2005-05-26	ENSG00000185176	ENSG00000185176		"""Ion channels / Aquaporins"""	6096	protein-coding gene	gene with protein product			"""insulin synthesis associated 3"""	INSSA3			Standard	NM_001102467		Approved		uc010fzj.3	A6NM10	OTTHUMG00000152263	ENST00000407834.3:c.-53G>A	2.37:g.241622307C>T			241270980	A4QPB9	Missense_Mutation	SNP	superfamily_MIP	p.A6T	ENST00000407834.3	37	c.16	CCDS46560.1	2																																																																																			-	NULL		0.667	AQP12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP12B	protein_coding	OTTHUMT00000325625.1	C			241270980	-1	no_start_codon	ENST00000373310	ensembl	human	known	54_36p	missense	SNP	0.000	T
NEU4	129807	genome.wustl.edu	37	2	242755868	242755868	+	Missense_Mutation	SNP	G	G	C	rs182769189	byFrequency	TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr2:242755868G>C	ENST00000391969.2	+	3	898	c.187G>C	c.(187-189)Ggg>Cgg	p.G63R	NEU4_ENST00000325935.6_Missense_Mutation_p.G76R|AC114730.3_ENST00000420272.2_RNA|NEU4_ENST00000407683.1_Missense_Mutation_p.G63R|NEU4_ENST00000405370.1_Missense_Mutation_p.G63R|NEU4_ENST00000404257.1_Missense_Mutation_p.G75R	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	63					ganglioside catabolic process (GO:0006689)|glycoprotein catabolic process (GO:0006516)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|organelle inner membrane (GO:0019866)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		CACGCTGGCCGGGGGCTCCGT	0.751													G|||	29	0.00579073	0.0197	0.0029	5008	,	,		11668	0.0		0.001	False		,,,				2504	0.0															0			2						G	ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY	27,3695		0,27,1834	3.0	4.0	3.0		226,187,187,187,223	-1.5	0.1	2		3	4,7350		0,4,3673	no	missense,missense,missense,missense,missense	NEU4	NM_001167599.1,NM_001167600.1,NM_001167601.1,NM_001167602.1,NM_080741.2	125,125,125,125,125	0,31,5507	CC,CG,GG		0.0544,0.7254,0.2799	benign,benign,benign,benign,benign	76/498,63/485,63/485,63/485,75/497	242755868	31,11045	1861	3677	5538	242404541	SO:0001583	missense	129807			BC012899	CCDS2553.1, CCDS54441.1, CCDS54442.1	2q37.3	2008-02-05			ENSG00000204099	ENSG00000204099			21328	protein-coding gene	gene with protein product		608527					Standard	NM_001167600		Approved		uc010fzr.3	Q8WWR8	OTTHUMG00000133412	ENST00000391969.2:c.187G>C	2.37:g.242755868G>C	ENSP00000375830:p.Gly63Arg		242404541	A8K056|J3KNJ5|Q96D64	Missense_Mutation	SNP	superfamily_Sialidase	p.G75R	ENST00000391969.2	37	c.223	CCDS54442.1	2	13	0.005952380952380952	10	0.02032520325203252	3	0.008287292817679558	0	0.0	0	0.0	G	1.658	-0.512324	0.04200	0.007254	5.44E-4	ENSG00000204099	ENST00000407683;ENST00000415936;ENST00000405370;ENST00000472793;ENST00000423583;ENST00000404257;ENST00000391969;ENST00000325935;ENST00000435894;ENST00000426032;ENST00000420288;ENST00000428592	D;D;D;D;D;D;D;D;D;D;D	0.90324	-2.65;-2.65;-2.65;-2.65;-2.65;-2.65;-2.65;-2.65;-2.65;-2.65;-2.65	3.62	-1.48	0.08745	Neuraminidase (2);	0.377447	0.27636	N	0.018486	T	0.62938	0.2469	N	0.12887	0.27	0.09310	N	0.999999	B;B;B	0.17465	0.013;0.011;0.022	B;B;B	0.21708	0.029;0.017;0.036	T	0.59252	-0.7489	10	0.22109	T	0.4	-10.402	5.8543	0.18710	0.2631:0.4027:0.3341:0.0	.	75;75;63	A8K211;Q8WWR8-2;Q8WWR8	.;.;NEUR4_HUMAN	R	63;63;63;73;63;75;63;76;63;75;63;104	ENSP00000385402:G63R;ENSP00000397167:G63R;ENSP00000384804:G63R;ENSP00000397860:G63R;ENSP00000385149:G75R;ENSP00000375830:G63R;ENSP00000320318:G76R;ENSP00000398571:G63R;ENSP00000406678:G75R;ENSP00000388707:G63R;ENSP00000396197:G104R	ENSP00000320318:G76R	G	+	1	0	NEU4	242404541	0.196000	0.23350	0.145000	0.22337	0.255000	0.26057	0.418000	0.21230	0.073000	0.16731	-0.531000	0.04308	GGG	-	superfamily_Sialidase		0.751	NEU4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NEU4	protein_coding	OTTHUMT00000257270.2	G	NM_080741		242404541	+1	no_errors	NM_080741	genbank	human	reviewed	54_36p	missense	SNP	0.673	C
CLUL1	27098	genome.wustl.edu	37	18	633426	633429	+	Frame_Shift_Del	DEL	CTAT	CTAT	-	rs369365168		TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	CTAT	CTAT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr18:633426_633429delCTAT	ENST00000400606.2	+	6	1130_1133	c.985_988delCTAT	c.(985-990)ctatctfs	p.LS329fs	CLUL1_ENST00000338387.7_Frame_Shift_Del_p.LS329fs|CLUL1_ENST00000540035.1_Frame_Shift_Del_p.LS381fs|CLUL1_ENST00000579494.1_Frame_Shift_Del_p.LS329fs|CLUL1_ENST00000581619.1_Frame_Shift_Del_p.LS354fs	NM_014410.4	NP_055225.1	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	329					cell death (GO:0008219)	extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						TCAGGCTCACCTATCTGAAGGTAA	0.363																																																0			18																																								623429	SO:0001589	frameshift_variant	27098			D63813	CCDS42405.1, CCDS74187.1	18p11.32	2008-07-28				ENSG00000079101			2096	protein-coding gene	gene with protein product						10675623, 14507903	Standard	NM_199167		Approved		uc002kkq.3	Q15846		ENST00000400606.2:c.985_988delCTAT	18.37:g.633426_633429delCTAT	ENSP00000383449:p.Leu329fs		623426	A0FDN7	Frame_Shift_Del	DEL	HMMPfam_Clusterin,HMMSmart_CLb,HMMSmart_CLa	p.S330fs	ENST00000400606.2	37	c.985_988	CCDS42405.1	18																																																																																			(deletion:cds_exon[623298,623435])	HMMPfam_Clusterin,HMMSmart_CLa		0.363	CLUL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CLUL1	protein_coding	OTTHUMT00000441183.1	CTAT			623429	+1	no_errors	NM_014410	genbank	human	validated	54_36p	frame_shift_del	DEL	0.887:0.883:0.820:0.827	-
CLUL1	27098	genome.wustl.edu	37	18	633434	633441	+	Splice_Site	DEL	AGGTAAAT	AGGTAAAT	-	rs373181420		TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	AGGTAAAT	AGGTAAAT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr18:633434_633441delAGGTAAAT	ENST00000400606.2	+	6	1138_1139	c.993_994delAGGTAAAT	c.(991-996)gaaggt>gagt	p.G332fs	CLUL1_ENST00000338387.7_Splice_Site_p.G332fs|CLUL1_ENST00000540035.1_Splice_Site_p.G384fs|CLUL1_ENST00000579494.1_Splice_Site_p.G332fs|CLUL1_ENST00000581619.1_Splice_Site_p.G357fs	NM_014410.4	NP_055225.1	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	332					cell death (GO:0008219)	extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						ACCTATCTGAAGGTAAATAATTGCTATT	0.346																																																0			18																																								623441	SO:0001630	splice_region_variant	27098			D63813	CCDS42405.1, CCDS74187.1	18p11.32	2008-07-28				ENSG00000079101			2096	protein-coding gene	gene with protein product						10675623, 14507903	Standard	NM_199167		Approved		uc002kkq.3	Q15846		ENST00000400606.2:c.994+1AGGTAAAT>-	18.37:g.633434_633441delAGGTAAAT			623434	A0FDN7	Frame_Shift_Del	DEL	HMMPfam_Clusterin,HMMSmart_CLb,HMMSmart_CLa	p.D332fs	ENST00000400606.2	37	c.993_994	CCDS42405.1	18																																																																																			(deletion:cds_exon[623298,623435], intron[623436,631326])	HMMPfam_Clusterin,HMMSmart_CLa		0.346	CLUL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CLUL1	protein_coding	OTTHUMT00000441183.1	AGGTAAAT		Frame_Shift_Del	623441	+1	no_errors	NM_014410	genbank	human	validated	54_36p	frame_shift_del	DEL	0.926:0.995	-
NF1	4763	genome.wustl.edu	37	17	29550506	29550523	+	In_Frame_Del	DEL	AAATGCTTAGTAGCACAG	AAATGCTTAGTAGCACAG	-			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	AAATGCTTAGTAGCACAG	AAATGCTTAGTAGCACAG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr17:29550506_29550523delAAATGCTTAGTAGCACAG	ENST00000358273.4	+	16	2149_2166	c.1766_1783delAAATGCTTAGTAGCACAG	c.(1765-1785)caaatgcttagtagcacagaa>caa	p.MLSSTE590del	NF1_ENST00000356175.3_In_Frame_Del_p.MLSSTE590del	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	590					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACTAGTCATCAAATGCTTAGTAGCACAGAAATTCTCAA	0.303			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	12	Whole gene deletion(8)|Unknown(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	17	GRCh37	CD072447	NF1	D																																				26574649	SO:0001651	inframe_deletion	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1766_1783delAAATGCTTAGTAGCACAG	17.37:g.29550506_29550523delAAATGCTTAGTAGCACAG	ENSP00000351015:p.Met590_Glu595del		26574632	O00662|Q14284|Q14930|Q14931|Q9UMK3	In_Frame_Del	DEL	HMMSmart_SM00323,superfamily_GTPase activation domain GAP,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1,HMMSmart_SM00516	p.MLSSTE590in_frame_del	ENST00000358273.4	37	c.1766_1783	CCDS42292.1	17																																																																																			(deletion:cds_exon[26574588,26574711])	NULL		0.303	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	protein_coding	OTTHUMT00000256351.2	AAATGCTTAGTAGCACAG	NM_000267		26574649	+1	no_errors	NM_001042492	genbank	human	reviewed	54_36p	in_frame_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.998:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000	-
NF1	4763	genome.wustl.edu	37	17	29550571	29550572	+	Frame_Shift_Ins	INS	-	-	TTCTTAAATA	rs201064978		TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr17:29550571_29550572insTTCTTAAATA	ENST00000358273.4	+	16	2214_2215	c.1831_1832insTTCTTAAATA	c.(1831-1833)cttfs	p.-611fs	NF1_ENST00000356175.3_Frame_Shift_Ins_p.-611fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.L611fs*3(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GAATAAATTTCTTCTTAAAAAT	0.302			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	13	Whole gene deletion(8)|Unknown(4)|Complex - frameshift(1)	soft_tissue(8)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	17	GRCh37	CD076844	NF1	D																																				26574698	SO:0001589	frameshift_variant	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	Exception_encountered	17.37:g.29550571_29550572insTTCTTAAATA	ENSP00000351015:p.Leu611fs		26574697	O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Ins	INS	HMMSmart_SM00516,HMMPfam_RasGAP,HMMSmart_SM00323,PatternScan_RAS_GTPASE_ACTIV_1,superfamily_GTPase activation domain GAP	p.N614fs	ENST00000358273.4	37	c.1831_1832	CCDS42292.1	17																																																																																			-	NULL		0.302	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	protein_coding	OTTHUMT00000256351.2	-	NM_000267		26574698	+1	no_errors	NM_001042492	genbank	human	reviewed	54_36p	frame_shift_ins	INS	1.000:1.000	TTCTTAAATA
AKAP6	9472	genome.wustl.edu	37	14	33014915	33014939	+	Frame_Shift_Del	DEL	CCATCATGATGCAAAGAATCAGCAG	CCATCATGATGCAAAGAATCAGCAG	-	rs139999446		TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	CCATCATGATGCAAAGAATCAGCAG	CCATCATGATGCAAAGAATCAGCAG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr14:33014915_33014939delCCATCATGATGCAAAGAATCAGCAG	ENST00000280979.4	+	4	1226_1250	c.1056_1080delCCATCATGATGCAAAGAATCAGCAG	c.(1054-1080)tcccatcatgatgcaaagaatcagcagfs	p.SHHDAKNQQ352fs	AKAP6_ENST00000557272.1_Frame_Shift_Del_p.SHHDAKNQQ352fs|AKAP6_ENST00000557354.1_Frame_Shift_Del_p.SHHDAKNQQ352fs	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	352					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GTTCCTCCTCCCATCATGATGCAAAGAATCAGCAGCCTGTTCCTT	0.484																																					Melanoma(49;821 1200 7288 13647 42351)											0			14																																								32084690	SO:0001589	frameshift_variant	9472			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.1056_1080delCCATCATGATGCAAAGAATCAGCAG	14.37:g.33014915_33014939delCCATCATGATGCAAAGAATCAGCAG	ENSP00000280979:p.Ser352fs		32084666	A7E242|A7E2D4|O15028	Frame_Shift_Del	DEL	HMMSmart_SM00150,superfamily_Spectrin repeat,PatternScan_PFKB_KINASES_2	p.H353fs	ENST00000280979.4	37	c.1056_1080	CCDS9644.1	14																																																																																			(deletion:cds_exon[32084187,32085956])	NULL		0.484	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP6	protein_coding	OTTHUMT00000276617.2	CCATCATGATGCAAAGAATCAGCAG	NM_004274		32084690	+1	no_errors	NM_004274	genbank	human	reviewed	54_36p	frame_shift_del	DEL	0.000:0.001:0.001:0.000:0.024:0.031:0.775:0.838:0.823:0.648:0.398:0.386:0.359:0.349:0.268:0.124:0.020:0.005:0.005:0.024:0.071:0.162:0.312:0.332:0.316	-
QSER1	79832	genome.wustl.edu	37	11	32955947	32955950	+	Frame_Shift_Del	DEL	CTTC	CTTC	-			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	CTTC	CTTC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr11:32955947_32955950delCTTC	ENST00000399302.2	+	4	3091_3094	c.2756_2759delCTTC	c.(2755-2760)acttccfs	p.TS919fs	QSER1_ENST00000527788.1_Frame_Shift_Del_p.TS680fs	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	919										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					ATAAATGATACTTCCTTAAATGGA	0.377																																																0			11																																								32912526	SO:0001589	frameshift_variant	79832			AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.2756_2759delCTTC	11.37:g.32955947_32955950delCTTC	ENSP00000382241:p.Thr919fs		32912523	Q6ZU30|Q6ZUR5	Frame_Shift_Del	DEL	NULL	p.S920fs	ENST00000399302.2	37	c.2756_2759	CCDS41631.1	11																																																																																			(deletion:cds_exon[32909865,32913557])	NULL		0.377	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QSER1	protein_coding	OTTHUMT00000388448.1	CTTC	NM_024774		32912526	+1	no_errors	NM_001076786	genbank	human	provisional	54_36p	frame_shift_del	DEL	1.000:1.000:1.000:1.000	-
BRCA1	672	genome.wustl.edu	37	17	41243985	41243986	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	CT	CT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr17:41243985_41243986delCT	ENST00000357654.3	-	10	3680_3681	c.3562_3563delAG	c.(3562-3564)aggfs	p.R1188fs	BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000493795.1_Frame_Shift_Del_p.R1141fs|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000471181.2_Frame_Shift_Del_p.R1188fs|BRCA1_ENST00000346315.3_Frame_Shift_Del_p.R1188fs|BRCA1_ENST00000354071.3_Frame_Shift_Del_p.R1188fs|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000309486.4_Frame_Shift_Del_p.R892fs|BRCA1_ENST00000586385.1_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1188					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|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 vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GCTAGGACTCCTGCTAAGCTCT	0.421			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	0			17																																								38497512	SO:0001589	frameshift_variant	672	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.3562_3563delAG	17.37:g.41243985_41243986delCT	ENSP00000350283:p.Arg1188fs		38497511	O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Frame_Shift_Del	DEL	superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_BRCT,HMMSmart_SM00292,superfamily_BRCT domain	p.R1188fs	ENST00000357654.3	37	c.3563_3562	CCDS11453.1	17																																																																																			(deletion:cds_exon[38496978,38500403])	NULL		0.421	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA1	protein_coding	OTTHUMT00000348798.2	CT	NM_007294		38497512	-1	no_errors	NM_007294	genbank	human	reviewed	54_36p	frame_shift_del	DEL	0.017:0.015	-
MEPE	56955	genome.wustl.edu	37	4	88767035	88767035	+	Frame_Shift_Del	DEL	A	A	-			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr4:88767035delA	ENST00000424957.3	+	4	1088	c.1015delA	c.(1015-1017)aacfs	p.N339fs	MEPE_ENST00000540395.1_Frame_Shift_Del_p.N226fs|MEPE_ENST00000560249.1_Frame_Shift_Del_p.N226fs|MEPE_ENST00000497649.2_Frame_Shift_Del_p.N315fs|MEPE_ENST00000361056.3_Frame_Shift_Del_p.N339fs|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000395102.4_Frame_Shift_Del_p.N370fs	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	339					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		AGAGGGCAGCAACGATATCAT	0.473																																																0			4											58.0	56.0	57.0					4																	88767035		2203	4300	6503	88986059	SO:0001589	frameshift_variant	56955			AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"""matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"""			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.1015delA	4.37:g.88767035delA	ENSP00000416984:p.Asn339fs		88986059	A1A4X9|A8MTA3|D2CFR4|F5H5C5	Frame_Shift_Del	DEL	HMMPfam_Osteoregulin	p.N339fs	ENST00000424957.3	37	c.1015	CCDS3625.1	4																																																																																			(deletion:cds_exon[88985153,88986622])	NULL		0.473	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MEPE	protein_coding	OTTHUMT00000253038.1	A			88986059	+1	no_errors	NM_020203	genbank	human	validated	54_36p	frame_shift_del	DEL	0.372	-
DDX18	8886	genome.wustl.edu	37	2	118575294	118575294	+	Frame_Shift_Del	DEL	T	T	-			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr2:118575294delT	ENST00000263239.2	+	2	488	c.360delT	c.(358-360)gatfs	p.D120fs	DDX18_ENST00000474694.1_3'UTR	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	120					ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGGTGAATGATGCTGAGCCTG	0.358																																																0			2											84.0	96.0	92.0					2																	118575294		2114	4258	6372	118291764	SO:0001589	frameshift_variant	8886			X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"""DEAD-boxes"""	2741	protein-coding gene	gene with protein product		606355	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"""			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.360delT	2.37:g.118575294delT	ENSP00000263239:p.Asp120fs		118291764	Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Frame_Shift_Del	DEL	superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_DEAD,PatternScan_DEAD_ATP_HELICASE,HMMSmart_HELICc,HMMPfam_Helicase_C	p.D120fs	ENST00000263239.2	37	c.360	CCDS2120.1	2																																																																																			(deletion:cds_exon[118291490,118291774])	superfamily_SSF52540		0.358	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX18	protein_coding	OTTHUMT00000129632.3	T	NM_006773		118291764	+1	no_errors	NM_006773	genbank	human	reviewed	54_36p	frame_shift_del	DEL	0.243	-
