#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
MYT1L	23040	genome.wustl.edu	37	2	1906974	1906974	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr2:1906974T>C	ENST00000399161.2	-	14	2657	c.1910A>G	c.(1909-1911)gAg>gGg	p.E637G	MYT1L_ENST00000428368.2_Missense_Mutation_p.E635G	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	637					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TTTCTCGAGCTCCTTGGCCAG	0.488																																																0			2											119.0	111.0	113.0					2																	1906974		1949	4151	6100	1885981	SO:0001583	missense	23040			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1910A>G	2.37:g.1906974T>C	ENSP00000382114:p.Glu637Gly		1885981	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	superfamily_SSF103637,HMMPfam_zf-C2HC,HMMPfam_MYT1,PatternScan_EF_HAND_1	p.E635G	ENST00000399161.2	37	c.1904		2	.	.	.	.	.	.	.	.	.	.	T	31	5.085723	0.94100	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.59772	0.24;0.24	5.51	5.51	0.81932	Myelin transcription factor 1 (1);	0.044587	0.85682	D	0.000000	T	0.77890	0.4198	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.80652	-0.1287	10	0.54805	T	0.06	-38.69	15.6256	0.76855	0.0:0.0:0.0:1.0	.	637;635	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	G	637;583;635	ENSP00000382114:E637G;ENSP00000396103:E635G	ENSP00000295067:E583G	E	-	2	0	MYT1L	1885981	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.975000	0.88055	2.101000	0.63845	0.459000	0.35465	GAG	-	HMMPfam_MYT1		0.488	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	MYT1L	protein_coding	OTTHUMT00000322493.1	T	NM_015025		1885981	-1	no_errors	NM_015025	genbank	human	validated	54_36p	missense	SNP	1.000	C
MYT1L	23040	genome.wustl.edu	37	2	1926514	1926514	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr2:1926514C>T	ENST00000399161.2	-	10	1774	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K	MYT1L_ENST00000428368.2_Missense_Mutation_p.E343K	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	343					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGGTTGGTCTCACTGAGCTTC	0.557																																																0			2											58.0	63.0	61.0					2																	1926514		2135	4235	6370	1905521	SO:0001583	missense	23040			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1027G>A	2.37:g.1926514C>T	ENSP00000382114:p.Glu343Lys		1905521	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	HMMPfam_zf-C2HC,HMMPfam_MYT1,PatternScan_EF_HAND_1,superfamily_SSF103637	p.E343K	ENST00000399161.2	37	c.1027		2	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675804	0.88445	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.50001	0.76;0.76	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.60064	0.2240	L	0.29908	0.895	0.80722	D	1	D;P	0.63880	0.993;0.908	D;B	0.70935	0.971;0.337	T	0.61884	-0.6971	10	0.72032	D	0.01	-43.5831	19.9447	0.97177	0.0:1.0:0.0:0.0	.	343;343	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	K	343;291;343	ENSP00000382114:E343K;ENSP00000396103:E343K	ENSP00000295067:E291K	E	-	1	0	MYT1L	1905521	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.685000	0.84117	2.719000	0.93026	0.655000	0.94253	GAG	-	NULL		0.557	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	MYT1L	protein_coding	OTTHUMT00000322493.1	C	NM_015025		1905521	-1	no_errors	NM_015025	genbank	human	validated	54_36p	missense	SNP	1.000	T
ASPA	443	genome.wustl.edu	37	17	3379649	3379649	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr17:3379649G>T	ENST00000263080.2	+	1	354	c.196G>T	c.(196-198)Gac>Tac	p.D66Y	ASPA_ENST00000456349.2_Missense_Mutation_p.D66Y|SPATA22_ENST00000541913.1_Intron	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	66					aspartate catabolic process (GO:0006533)|central nervous system myelination (GO:0022010)|positive regulation of oligodendrocyte differentiation (GO:0048714)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminoacylase activity (GO:0004046)|aspartoacylase activity (GO:0019807)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	CAGATATATTGACTGTGACCT	0.408																																																0			17											182.0	163.0	169.0					17																	3379649		2203	4300	6503	3326399	SO:0001583	missense	443			S67156	CCDS11028.1	17p13.3	2010-06-24	2010-06-24		ENSG00000108381	ENSG00000108381	3.5.1.15		756	protein-coding gene	gene with protein product	"""aminoacylase 2"", ""Canavan disease"""	608034	"""aspartoacylase (aminoacylase 2, Canavan disease)"""			8252036	Standard	NM_001128085		Approved	ASP, ACY2	uc002fvq.3	P45381	OTTHUMG00000090655	ENST00000263080.2:c.196G>T	17.37:g.3379649G>T	ENSP00000263080:p.Asp66Tyr		3326399		Missense_Mutation	SNP	HMMPfam_AstE_AspA	p.D66Y	ENST00000263080.2	37	c.196	CCDS11028.1	17	.	.	.	.	.	.	.	.	.	.	g	26.5	4.744145	0.89663	.	.	ENSG00000108381	ENST00000456349;ENST00000263080	D;D	0.98876	-5.2;-5.2	5.46	5.46	0.80206	.	0.045056	0.85682	D	0.000000	D	0.99296	0.9754	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.99236	1.0883	10	0.87932	D	0	-14.4341	18.6955	0.91599	0.0:0.0:1.0:0.0	.	66	P45381	ACY2_HUMAN	Y	66	ENSP00000409976:D66Y;ENSP00000263080:D66Y	ENSP00000263080:D66Y	D	+	1	0	ASPA	3326399	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.753000	0.85153	2.733000	0.93635	0.655000	0.94253	GAC	-	HMMPfam_AstE_AspA		0.408	ASPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPA	protein_coding	OTTHUMT00000207315.1	G	NM_000049		3326399	+1	no_errors	NM_000049	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
DFFB	1677	genome.wustl.edu	37	1	3789098	3789098	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr1:3789098G>T	ENST00000378209.3	+	6	1067	c.744G>T	c.(742-744)gaG>gaT	p.E248D	DFFB_ENST00000338895.3_Missense_Mutation_p.E248D	NM_004402.2	NP_004393.1	O76075	DFFB_HUMAN	DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)	248					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		GTAACAGGGAGAGCAGGATCC	0.567																																																0			1											113.0	104.0	107.0					1																	3789098		2203	4300	6503	3778958	SO:0001583	missense	1677				CCDS52.1, CCDS72693.1	1p36.3	2014-03-06	2002-08-29		ENSG00000169598	ENSG00000169598			2773	protein-coding gene	gene with protein product		601883				9108473, 9560346	Standard	NM_004402		Approved	CAD, CPAN, DFF-40, DFF40	uc001alc.3	O76075	OTTHUMG00000003525	ENST00000378209.3:c.744G>T	1.37:g.3789098G>T	ENSP00000367454:p.Glu248Asp		3778958	O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	superfamily_CAD  PB1 domains,HMMPfam_CIDE-N,HMMSmart_SM00266,superfamily_His-Me finger endonucleases,HMMPfam_DFF40	p.E248D	ENST00000378209.3	37	c.744	CCDS52.1	1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122547	0.77436	.	.	ENSG00000169598	ENST00000378209;ENST00000338895;ENST00000339350;ENST00000378206	T;T	0.50277	0.75;0.75	4.39	3.22	0.36961	Apoptosis, DNA fragmentation factor 40kDa (1);	0.000000	0.85682	D	0.000000	T	0.66489	0.2794	M	0.87682	2.9	0.80722	D	1	D;D;D	0.64830	0.994;0.983;0.994	D;P;D	0.74348	0.983;0.779;0.983	T	0.69183	-0.5212	10	0.66056	D	0.02	-37.8639	6.1755	0.20441	0.2869:0.0:0.7131:0.0	.	272;184;248	B4DZS0;Q5SR21;O76075	.;.;DFFB_HUMAN	D	248;248;184;184	ENSP00000367454:E248D;ENSP00000339524:E248D	ENSP00000339524:E248D	E	+	3	2	DFFB	3778958	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.954000	0.40362	1.996000	0.58369	0.449000	0.29647	GAG	-	superfamily_His-Me finger endonucleases,HMMPfam_DFF40		0.567	DFFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DFFB	protein_coding	OTTHUMT00000009821.2	G	NM_001282669		3778958	+1	no_errors	NM_004402	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
LTBR	4055	genome.wustl.edu	37	12	6494513	6494513	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr12:6494513A>T	ENST00000228918.4	+	4	766	c.440A>T	c.(439-441)gAc>gTc	p.D147V	LTBR_ENST00000541102.1_Missense_Mutation_p.D40V|LTBR_ENST00000543190.1_Missense_Mutation_p.D40V|LTBR_ENST00000539925.1_Missense_Mutation_p.D128V	NM_002342.2	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	147					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						CTACTTTCTGACTGCCCGCCT	0.622																																																0			12											44.0	46.0	45.0					12																	6494513		2203	4300	6503	6364774	SO:0001583	missense	4055			L04270	CCDS8544.1, CCDS59233.1	12p13	2013-05-22				ENSG00000111321		"""Tumor necrosis factor receptor superfamily"""	6718	protein-coding gene	gene with protein product		600979		D12S370		8171323, 8486360	Standard	NM_002342		Approved	TNFCR, TNFR-RP, TNFR2-RP, TNF-R-III, TNFRSF3	uc001qny.2	P36941		ENST00000228918.4:c.440A>T	12.37:g.6494513A>T	ENSP00000228918:p.Asp147Val		6364774	B7Z1D2|D3DUR2|F5GXE7	Missense_Mutation	SNP	superfamily_SSF57586,HMMPfam_TNFR_c6,HMMSmart_TNFR,PatternScan_TNFR_NGFR_1	p.D147V	ENST00000228918.4	37	c.440	CCDS8544.1	12	.	.	.	.	.	.	.	.	.	.	A	11.18	1.561663	0.27915	.	.	ENSG00000111321	ENST00000539925;ENST00000228918;ENST00000540343;ENST00000536876;ENST00000543190;ENST00000541102	T;T;T;T;T	0.72835	0.2;0.2;0.2;-0.69;0.2	4.79	-0.809	0.10864	TNFR/CD27/30/40/95 cysteine-rich region (1);	1.649630	0.03114	N	0.162930	T	0.50820	0.1638	N	0.24115	0.695	0.20638	N	0.999873	B;B;B	0.26318	0.103;0.063;0.146	B;B;B	0.21917	0.037;0.016;0.024	T	0.20207	-1.0282	9	.	.	.	0.0052	0.4787	0.00544	0.341:0.2296:0.1134:0.316	.	128;128;147	F5GXE7;B7Z1D2;P36941	.;.;TNR3_HUMAN	V	128;147;40;142;40;40	ENSP00000440875:D128V;ENSP00000228918:D147V;ENSP00000437647:D142V;ENSP00000438955:D40V;ENSP00000438605:D40V	.	D	+	2	0	LTBR	6364774	0.007000	0.16637	0.010000	0.14722	0.579000	0.36224	-0.174000	0.09839	-0.111000	0.12001	0.459000	0.35465	GAC	-	superfamily_SSF57586,HMMSmart_TNFR		0.622	LTBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBR	protein_coding	OTTHUMT00000399422.1	A			6364774	+1	no_errors	NM_002342	genbank	human	reviewed	54_36p	missense	SNP	0.015	T
TRIP10	9322	genome.wustl.edu	37	19	6750556	6750556	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr19:6750556C>A	ENST00000313244.9	+	14	1604	c.1569C>A	c.(1567-1569)gaC>gaA	p.D523E	CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000600428.1_Missense_Mutation_p.D359E|TRIP10_ENST00000596758.1_Missense_Mutation_p.D467E|TRIP10_ENST00000313285.8_Missense_Mutation_p.D467E			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	523	Interaction with CDC42.|Interaction with DNM2 and WASL. {ECO:0000250}.|Interaction with PDE6G. {ECO:0000250}.|Required for interaction with FASLG and localization to lysosomes.				actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						AGAGCCAGGACACCCCCATTT	0.547																																																0			19											106.0	94.0	98.0					19																	6750556		2203	4300	6503	6701556	SO:0001583	missense	9322			AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"""Cdc42-interacting protein"""	604504	"""salt tolerator"""	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.1569C>A	19.37:g.6750556C>A	ENSP00000320117:p.Asp523Glu		6701556	B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Missense_Mutation	SNP	HMMPfam_FCH,HMMSmart_SM00055,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326	p.D467E	ENST00000313244.9	37	c.1401		19	.	.	.	.	.	.	.	.	.	.	C	0.033	-1.320583	0.01320	.	.	ENSG00000125733	ENST00000313285;ENST00000313244;ENST00000420690	T;T	0.77489	-1.1;-1.1	4.67	0.0113	0.14086	Src homology-3 domain (1);	0.646995	0.14610	N	0.309066	T	0.70815	0.3267	N	0.19112	0.55	0.23916	N	0.996476	P;D;P	0.64830	0.594;0.994;0.829	B;D;B	0.70716	0.341;0.97;0.415	T	0.61347	-0.7081	10	0.06236	T	0.91	-32.4186	6.61	0.22747	0.0:0.5625:0.1225:0.3151	.	467;523;467	G5E9U1;Q15642;Q15642-2	.;CIP4_HUMAN;.	E	467;523;467	ENSP00000320493:D467E;ENSP00000320117:D523E	ENSP00000320117:D523E	D	+	3	2	TRIP10	6701556	0.000000	0.05858	0.834000	0.33040	0.728000	0.41692	-1.086000	0.03386	-0.262000	0.09392	-1.786000	0.00637	GAC	-	superfamily_SH3-domain		0.547	TRIP10-003	KNOWN	basic	protein_coding	TRIP10	protein_coding	OTTHUMT00000317129.2	C			6701556	+1	no_errors	NM_004240	genbank	human	validated	54_36p	missense	SNP	0.475	A
FXR2	9513	genome.wustl.edu	37	17	7507345	7507345	+	Silent	SNP	C	C	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr17:7507345C>T	ENST00000250113.7	-	4	616	c.282G>A	c.(280-282)gtG>gtA	p.V94V		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	94	Agenet-like 2.					cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.?(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		TCATCATCCGCACCCGGGCCA	0.443																																																1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)	17											39.0	42.0	41.0					17																	7507345		1936	4135	6071	7448070	SO:0001819	synonymous_variant	9513			U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.282G>A	17.37:g.7507345C>T			7448070	B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Silent	SNP	HMMPfam_Agenet,superfamily_Eukaryotic type KH-domain (KH-domain type I),HMMSmart_SM00322,HMMPfam_KH_1	p.V94	ENST00000250113.7	37	c.282	CCDS45604.1	17																																																																																			-	HMMPfam_Agenet		0.443	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FXR2	protein_coding	OTTHUMT00000441084.1	C			7448070	-1	no_errors	ENST00000250113	ensembl	human	known	54_36p	silent	SNP	1.000	T
TP53	7157	genome.wustl.edu	37	17	7579528	7579528	+	Nonsense_Mutation	SNP	C	C	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr17:7579528C>T	ENST00000269305.4	-	4	348	c.159G>A	c.(157-159)tgG>tgA	p.W53*	TP53_ENST00000445888.2_Nonsense_Mutation_p.W53*|TP53_ENST00000455263.2_Nonsense_Mutation_p.W53*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Nonsense_Mutation_p.W53*|TP53_ENST00000413465.2_Nonsense_Mutation_p.W53*|TP53_ENST00000420246.2_Nonsense_Mutation_p.W53*	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	53	Interaction with HRMT1L2.		W -> C (in sporadic cancers; somatic mutation).|W -> G (in a sporadic cancer; 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.0?(8)|p.W53*(6)|p.W53C(2)|p.E51fs*59(1)|p.D48fs*55(1)|p.Q52fs*67(1)|p.F54fs*3(1)|p.P13fs*18(1)|p.S33fs*23(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)	CTTCAGTGAACCATTGTTCAA	0.592		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"""	22	Whole gene deletion(8)|Substitution - Nonsense(6)|Deletion - Frameshift(5)|Substitution - Missense(2)|Insertion - Frameshift(1)	upper_aerodigestive_tract(5)|bone(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|ovary(2)|stomach(1)|endometrium(1)|skin(1)|prostate(1)|pancreas(1)	17											164.0	164.0	164.0					17																	7579528		2203	4300	6503	7520253	SO:0001587	stop_gained	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.159G>A	17.37:g.7579528C>T	ENSP00000269305:p.Trp53*		7520253	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	Nonsense_Mutation	SNP	HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain	p.W53*	ENST00000269305.4	37	c.159	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	14.68	2.607040	0.46527	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	3.95	0.597	0.17504	.	12.513700	0.00166	N	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0528	6.5385	0.22367	0.3649:0.4576:0.1774:0.0	.	.	.	.	X	53	.	ENSP00000269305:W53X	W	-	3	0	TP53	7520253	0.011000	0.17503	0.003000	0.11579	0.008000	0.06430	0.434000	0.21494	0.180000	0.19960	0.561000	0.74099	TGG	-	NULL		0.592	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546		7520253	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	nonsense	SNP	0.002	T
CAMTA1	23261	genome.wustl.edu	37	1	7700535	7700535	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr1:7700535C>A	ENST00000303635.7	+	7	793	c.586C>A	c.(586-588)Ctc>Atc	p.L196I	CAMTA1_ENST00000439411.2_Missense_Mutation_p.L196I	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	196					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CGGCCCCATCCTCTGCTCCAT	0.612			T	WWTR1	epitheliod hemangioendothelioma																																		Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0			1											146.0	119.0	128.0					1																	7700535		2203	4300	6503	7623122	SO:0001583	missense	23261			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.586C>A	1.37:g.7700535C>A	ENSP00000306522:p.Leu196Ile		7623122	A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	HMMPfam_CG-1,superfamily_E set domains,HMMPfam_TIG,superfamily_Ankyrin repeat,HMMPfam_Ank,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_IQ	p.L196I	ENST00000303635.7	37	c.586	CCDS30576.1	1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.233474	0.58886	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.25085	1.82;1.82	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000003	T	0.16727	0.0402	L	0.27053	0.805	0.45747	D	0.99864	B	0.18968	0.032	B	0.17722	0.019	T	0.09422	-1.0675	10	0.22109	T	0.4	-18.9497	9.3324	0.38030	0.1434:0.782:0.0:0.0746	.	196	Q9Y6Y1	CMTA1_HUMAN	I	196	ENSP00000306522:L196I;ENSP00000402561:L196I	ENSP00000306522:L196I	L	+	1	0	CAMTA1	7623122	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.576000	0.46033	2.506000	0.84524	0.462000	0.41574	CTC	-	NULL		0.612	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA1	protein_coding	OTTHUMT00000003588.3	C	NM_015215		7623122	+1	no_errors	NM_015215	genbank	human	validated	54_36p	missense	SNP	1.000	A
PIK3R5	23533	genome.wustl.edu	37	17	8792462	8792462	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr17:8792462T>C	ENST00000447110.1	-	9	1013	c.889A>G	c.(889-891)Agc>Ggc	p.S297G	PIK3R5_ENST00000581552.1_Missense_Mutation_p.S297G|PIK3R5_ENST00000584803.1_Missense_Mutation_p.S297G	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	297				AKTLAELEDIFTETAEAQELASGIGDAAEARRWLRTKLQAV GEKAGFPGVLDTAKPGKLHTIPIPVARCYTYSWSQDS -> TLQNQGSSIPSPSLSPGATPTAGARTALTSCRKSCSRNRSC SSQGSWEMMKRRKRRRRRWRRTWKLMGTVPREIPCSP (in Ref. 6; AAW63122). {ECO:0000305}.	blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						TTACCAAAGCTGTCCTGGCTC	0.602																																					NSCLC(18;589 615 7696 20311 50332)											0			17											61.0	56.0	58.0					17																	8792462		2203	4300	6503	8733187	SO:0001583	missense	23533			AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.889A>G	17.37:g.8792462T>C	ENSP00000392812:p.Ser297Gly		8733187	B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	HMMPfam_PI3K_1B_p101	p.S297G	ENST00000447110.1	37	c.889	CCDS11147.1	17	.	.	.	.	.	.	.	.	.	.	T	13.80	2.346229	0.41599	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	T	0.77489	-1.1	5.15	5.15	0.70609	.	0.203284	0.53938	D	0.000050	T	0.64638	0.2616	N	0.24115	0.695	0.34783	D	0.734903	P	0.45283	0.855	B	0.41988	0.372	T	0.73414	-0.3990	10	0.39692	T	0.17	-33.8523	9.3905	0.38370	0.0:0.0803:0.0:0.9197	.	297	Q8WYR1	PI3R5_HUMAN	G	297	ENSP00000392812:S297G	ENSP00000269300:S297G	S	-	1	0	PIK3R5	8733187	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.507000	0.53371	2.180000	0.69256	0.529000	0.55759	AGC	-	HMMPfam_PI3K_1B_p101		0.602	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PIK3R5	protein_coding	OTTHUMT00000227003.2	T	NM_014308		8733187	-1	no_errors	NM_014308	genbank	human	validated	54_36p	missense	SNP	1.000	C
LAMP5	24141	genome.wustl.edu	37	20	9510367	9510367	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr20:9510367T>A	ENST00000246070.2	+	6	1235	c.743T>A	c.(742-744)gTc>gAc	p.V248D	LAMP5_ENST00000427562.2_Missense_Mutation_p.V204D	NM_012261.3	NP_036393.1	Q9UJQ1	LAMP5_HUMAN	lysosomal-associated membrane protein family, member 5	248						cytoplasmic vesicle membrane (GO:0030659)|dendrite membrane (GO:0032590)|early endosome membrane (GO:0031901)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|endosome membrane (GO:0010008)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)											TTGGGCCTCGTCATCATGGTA	0.517																																																0			20											129.0	103.0	112.0					20																	9510367		2203	4300	6503	9458367	SO:0001583	missense	24141			AL121740	CCDS13106.1, CCDS56177.1	20p12	2013-03-14	2011-11-25	2011-11-25	ENSG00000125869	ENSG00000125869			16097	protein-coding gene	gene with protein product	"""brain and dendritic cell associated LAMP"""	614641	"""chromosome 20 open reading frame 103"""	C20orf103		11780052, 21642595	Standard	NM_012261		Approved	dJ1119D9.3, BAD-LAMP, UNC-43	uc002wni.2	Q9UJQ1	OTTHUMG00000031851	ENST00000246070.2:c.743T>A	20.37:g.9510367T>A	ENSP00000246070:p.Val248Asp		9458367	B4DHZ7|B7Z9Z9	Missense_Mutation	SNP	HMMPfam_Lamp,PatternScan_LAMP_1	p.V248D	ENST00000246070.2	37	c.743	CCDS13106.1	20	.	.	.	.	.	.	.	.	.	.	T	18.00	3.524590	0.64747	.	.	ENSG00000125869	ENST00000246070;ENST00000427562	T;T	0.35789	1.29;1.29	6.16	6.16	0.99307	.	0.174292	0.51477	D	0.000094	T	0.27559	0.0677	N	0.08118	0	0.80722	D	1	D;P	0.56035	0.974;0.484	P;P	0.51355	0.667;0.557	T	0.09729	-1.0661	9	.	.	.	-15.3548	11.0377	0.47811	0.0:0.0686:0.0:0.9314	.	204;248	Q9UJQ1-2;Q9UJQ1	.;CT103_HUMAN	D	248;204	ENSP00000246070:V248D;ENSP00000406360:V204D	.	V	+	2	0	C20orf103	9458367	1.000000	0.71417	0.996000	0.52242	0.456000	0.32438	5.560000	0.67332	2.367000	0.80283	0.528000	0.53228	GTC	-	HMMPfam_Lamp		0.517	LAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf103	protein_coding	OTTHUMT00000077946.2	T	NM_012261		9458367	+1	no_errors	NM_012261	genbank	human	validated	54_36p	missense	SNP	1.000	A
GCM2	9247	genome.wustl.edu	37	6	10875050	10875050	+	Silent	SNP	A	A	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr6:10875050A>T	ENST00000379491.4	-	5	846	c.699T>A	c.(697-699)ccT>ccA	p.P233P	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	233					cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				TTGGGAAGGAAGGGCAAGGCT	0.458																																																0			6											132.0	125.0	127.0					6																	10875050		2203	4300	6503	10983036	SO:0001819	synonymous_variant	9247			AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"""glial cells missing (Drosophila) homolog b"""	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.699T>A	6.37:g.10875050A>T			10983036	D3GDV6|Q5THN5	Silent	SNP	superfamily_GCM_motif,HMMPfam_GCM	p.P233	ENST00000379491.4	37	c.699	CCDS4517.1	6																																																																																			-	NULL		0.458	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCM2	protein_coding	OTTHUMT00000039844.1	A			10983036	-1	no_errors	NM_004752	genbank	human	reviewed	54_36p	silent	SNP	0.771	T
SNX29	92017	genome.wustl.edu	37	16	12145968	12145968	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr16:12145968A>G	ENST00000566228.1	+	8	1082	c.1013A>G	c.(1012-1014)cAg>cGg	p.Q338R	SNX29_ENST00000323433.4_5'Flank|SNX29_ENST00000306030.3_5'Flank	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	338						extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						TTTGGGTACCAGAAGCTTGAT	0.488																																																0			16											114.0	117.0	116.0					16																	12145968		2197	4300	6497	12053469	SO:0001583	missense	84127			AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"""Sorting nexins"""	30542	protein-coding gene	gene with protein product			"""RUN domain containing 2A"""	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.1013A>G	16.37:g.12145968A>G	ENSP00000456480:p.Gln338Arg		12053469	B5MDW2|Q8N2X2|Q9HA26	Missense_Mutation	SNP	HMMPfam_RUN,HMMSmart_SM00593	p.Q338R	ENST00000566228.1	37	c.1013	CCDS10553.2	16	.	.	.	.	.	.	.	.	.	.	A	15.98	2.991345	0.54041	.	.	ENSG00000140660	ENST00000268271	.	.	.	5.91	3.55	0.40652	.	0.412177	0.25355	N	0.031262	T	0.68933	0.3055	M	0.63428	1.95	0.80722	D	1	.	.	.	.	.	.	T	0.67715	-0.5599	7	0.56958	D	0.05	-21.3329	11.986	0.53147	0.6701:0.3299:0.0:0.0	.	.	.	.	R	338	.	ENSP00000268271:Q338R	Q	+	2	0	RUNDC2A	12053469	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	2.265000	0.43311	0.410000	0.25675	0.379000	0.24179	CAG	-	NULL		0.488	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	RUNDC2A	protein_coding	OTTHUMT00000422622.1	A			12053469	+1	no_errors	NM_032167	genbank	human	validated	54_36p	missense	SNP	0.991	G
SPIRE1	56907	genome.wustl.edu	37	18	12453137	12453137	+	Splice_Site	SNP	G	G	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr18:12453137G>T	ENST00000409402.4	-	14	2044	c.1777C>A	c.(1777-1779)Ctc>Atc	p.L593I	SPIRE1_ENST00000453447.2_Splice_Site_p.L459I|SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000383356.2_Splice_Site_p.L420I|SPIRE1_ENST00000410092.3_Splice_Site_p.L579I|SPIRE1_ENST00000309836.5_Splice_Site_p.L382I	NM_001128626.1	NP_001122098.1			spire-type actin nucleation factor 1											breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						CAAAAGCAGAGCTAAAAAATA	0.338																																																0			18											47.0	50.0	49.0					18																	12453137		2202	4300	6502	12443137	SO:0001630	splice_region_variant	56907			AL833817	CCDS32790.2, CCDS45829.1, CCDS45830.1	18p11.21	2013-08-27	2013-08-27		ENSG00000134278	ENSG00000134278			30622	protein-coding gene	gene with protein product		609216	"""spire homolog 1 (Drosophila)"", ""spire family actin nucleation factor 1"""			10574461, 11747823	Standard	NM_001128626		Approved	spir-1, KIAA1135	uc002kre.3	Q08AE8	OTTHUMG00000153940	ENST00000409402.4:c.1777-1C>A	18.37:g.12453137G>T			12443137		Missense_Mutation	SNP	superfamily_FYVE_PHD_ZnF	p.L420I	ENST00000409402.4	37	c.1258	CCDS45829.1	18	.	.	.	.	.	.	.	.	.	.	G	8.582	0.882537	0.17467	.	.	ENSG00000134278	ENST00000453447;ENST00000409402;ENST00000410092;ENST00000309836;ENST00000383356	T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02	5.95	5.07	0.68467	Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.76234	0.3959	N	0.21282	0.65	0.58432	D	0.999999	B;P;P	0.39601	0.194;0.68;0.659	B;B;P	0.54026	0.085;0.131;0.74	T	0.70353	-0.4895	10	0.09843	T	0.71	-20.748	16.5037	0.84263	0.0:0.0:0.8679:0.1321	.	579;382;593	Q08AE8-2;B4DWX0;Q08AE8	.;.;SPIR1_HUMAN	I	459;593;579;382;420	ENSP00000407050:L459I;ENSP00000387266:L593I;ENSP00000387226:L579I;ENSP00000309661:L382I;ENSP00000372847:L420I	ENSP00000309661:L382I	L	-	1	0	SPIRE1	12443137	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.280000	0.78610	1.488000	0.48433	0.650000	0.86243	CTC	-	superfamily_FYVE_PHD_ZnF		0.338	SPIRE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPIRE1	protein_coding	OTTHUMT00000333109.2	G	XM_290818	Missense_Mutation	12443137	-1	no_errors	NM_020148	genbank	human	validated	54_36p	missense	SNP	1.000	T
MYOCD	93649	genome.wustl.edu	37	17	12656605	12656605	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr17:12656605C>A	ENST00000343344.4	+	10	2000	c.2000C>A	c.(1999-2001)gCc>gAc	p.A667D	MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_Missense_Mutation_p.A571D|MYOCD_ENST00000425538.1_Missense_Mutation_p.A667D			Q8IZQ8	MYCD_HUMAN	myocardin	667					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TCCTCCGGGGCCCAGGGAGAA	0.607																																																0			17											59.0	64.0	62.0					17																	12656605		2203	4300	6503	12597330	SO:0001583	missense	93649			AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.2000C>A	17.37:g.12656605C>A	ENSP00000341835:p.Ala667Asp		12597330	Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	HMMSmart_SM00707,superfamily_SAP domain,HMMPfam_SAP,HMMSmart_SM00513	p.A667D	ENST00000343344.4	37	c.2000	CCDS11163.1	17	.	.	.	.	.	.	.	.	.	.	C	13.88	2.368936	0.42003	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000395988;ENST00000443061	T;T	0.44482	0.92;0.93	5.73	4.76	0.60689	.	0.967672	0.08639	N	0.915802	T	0.47284	0.1437	L	0.60455	1.87	0.09310	N	1	B;B;P;B	0.36465	0.22;0.328;0.554;0.242	B;B;B;B	0.40477	0.046;0.284;0.33;0.075	T	0.37911	-0.9685	10	0.33141	T	0.24	-3.6048	13.7053	0.62633	0.0:0.9247:0.0:0.0753	.	386;571;667;667	E9PEP9;Q8IZQ8-2;Q8IZQ8-3;Q8IZQ8	.;.;.;MYCD_HUMAN	D	386;667;667;571;372	ENSP00000341835:A667D;ENSP00000400148:A372D	ENSP00000341835:A667D	A	+	2	0	MYOCD	12597330	0.173000	0.23056	0.002000	0.10522	0.000000	0.00434	5.298000	0.65710	1.454000	0.47793	-0.147000	0.13772	GCC	-	NULL		0.607	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOCD	protein_coding	OTTHUMT00000129950.1	C	NM_153604		12597330	+1	no_errors	NM_153604	genbank	human	provisional	54_36p	missense	SNP	0.108	A
FARSA	2193	genome.wustl.edu	37	19	13033679	13033679	+	Silent	SNP	G	G	C			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr19:13033679G>C	ENST00000314606.4	-	13	1428	c.1410C>G	c.(1408-1410)ggC>ggG	p.G470G	FARSA_ENST00000588025.1_Silent_p.G510G|MIR5695_ENST00000579717.1_RNA|FARSA_ENST00000423140.2_Silent_p.G439G	NM_004461.2	NP_004452.1	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	470					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	TATTGTTGATGCCATATTTGA	0.567																																																0			19											185.0	154.0	164.0					19																	13033679		2203	4300	6503	12894679	SO:0001819	synonymous_variant	2193			U07424	CCDS12287.1	19p13.2	2014-05-06	2007-02-23	2007-02-23	ENSG00000179115	ENSG00000179115	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	3592	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, alpha, cytoplasmic"""	602918	"""phenylalanine-tRNA synthetase-like"", ""phenylalanyl-tRNA synthetase-like, alpha subunit"""	FARSL, FARSLA		9177188	Standard	NM_004461		Approved	CML33	uc002mvs.2	Q9Y285	OTTHUMG00000180569	ENST00000314606.4:c.1410C>G	19.37:g.13033679G>C			12894679	B4E363|Q9NSD8|Q9Y4W8	Silent	SNP	"superfamily_""Winged helix"" DNA-binding domain,superfamily_Class II aaRS and biotin synthetases,HMMPfam_tRNA-synt_2d"	p.G470	ENST00000314606.4	37	c.1410	CCDS12287.1	19																																																																																			-	superfamily_Class II aaRS and biotin synthetases,HMMPfam_tRNA-synt_2d		0.567	FARSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARSA	protein_coding	OTTHUMT00000451935.1	G	NM_004461		12894679	-1	no_errors	NM_004461	genbank	human	validated	54_36p	silent	SNP	1.000	C
LDLRAD4	753	genome.wustl.edu	37	18	13438331	13438331	+	Missense_Mutation	SNP	C	C	G	rs145523399		TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr18:13438331C>G	ENST00000359446.5	+	3	597	c.129C>G	c.(127-129)gaC>gaG	p.D43E	LDLRAD4_ENST00000361205.4_Missense_Mutation_p.D43E|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.D43E	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4	43	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	early endosome membrane (GO:0031901)|endosome (GO:0005768)|integral component of membrane (GO:0016021)	R-SMAD binding (GO:0070412)	p.D43E(1)									ACAACAGTGACGAAGAGAACT	0.517																																																1	Substitution - Missense(1)	endometrium(1)	18											123.0	115.0	118.0					18																	13438331		2203	4300	6503	13428331	SO:0001583	missense	753			AF009424, AF009428	CCDS32793.1, CCDS32794.1, CCDS32795.1, CCDS42415.1, CCDS62392.1, CCDS62393.1	18p11.21	2014-04-29	2012-10-24	2012-10-24	ENSG00000168675	ENSG00000168675			1224	protein-coding gene	gene with protein product	"""clone 22"""	606571	"""chromosome 18 open reading frame 1"""	C18orf1		9479497, 9129712, 24627487	Standard	NM_181482		Approved		uc002ksb.3	O15165	OTTHUMG00000181925	ENST00000359446.5:c.129C>G	18.37:g.13438331C>G	ENSP00000352420:p.Asp43Glu		13428331	B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	Missense_Mutation	SNP	superfamily_LDL receptor-like module,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1	p.D43E	ENST00000359446.5	37	c.129	CCDS32793.1	18	.	.	.	.	.	.	.	.	.	.	C	21.1	4.094931	0.76870	.	.	ENSG00000168675	ENST00000361205;ENST00000399848	D;D	0.99194	-5.54;-5.54	5.22	-3.52	0.04682	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.56097	D	0.000030	D	0.99302	0.9756	H	0.96398	3.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.99063	1.0831	10	0.51188	T	0.08	-0.8517	11.3063	0.49336	0.0:0.3691:0.0:0.6309	.	43;43	O15165-2;O15165	.;CR001_HUMAN	E	43	ENSP00000354753:D43E;ENSP00000382741:D43E	ENSP00000354753:D43E	D	+	3	2	C18orf1	13428331	1.000000	0.71417	0.961000	0.40146	0.987000	0.75469	0.736000	0.26130	-0.955000	0.03636	-0.812000	0.03155	GAC	-	superfamily_LDL receptor-like module,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1		0.517	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C18orf1	protein_coding	OTTHUMT00000458326.1	C	NM_181481		13428331	+1	no_errors	NM_181481	genbank	human	validated	54_36p	missense	SNP	1.000	G
SLC1A6	6511	genome.wustl.edu	37	19	15063751	15063751	+	Silent	SNP	C	C	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr19:15063751C>A	ENST00000221742.3	-	8	1495	c.1488G>T	c.(1486-1488)gtG>gtT	p.V496V	SLC1A6_ENST00000600144.1_Silent_p.V418V|SLC1A6_ENST00000430939.2_Silent_p.V432V	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	496					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						GGAACCAGTCCACGGCAATGA	0.582																																																0			19											192.0	144.0	160.0					19																	15063751		2203	4300	6503	14924751	SO:0001819	synonymous_variant	6511				CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.1488G>T	19.37:g.15063751C>A			14924751	Q8N753	Silent	SNP	HMMPfam_SDF,PatternScan_NA_DICARBOXYL_SYMP_1,PatternScan_NA_DICARBOXYL_SYMP_2	p.V496	ENST00000221742.3	37	c.1488	CCDS12321.1	19																																																																																			-	HMMPfam_SDF		0.582	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC1A6	protein_coding	OTTHUMT00000466283.1	C	NM_005071		14924751	-1	no_errors	NM_005071	genbank	human	provisional	54_36p	silent	SNP	1.000	A
KIF16B	55614	genome.wustl.edu	37	20	16348419	16348419	+	Intron	SNP	C	C	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr20:16348419C>A	ENST00000354981.2	-	22	3656				KIF16B_ENST00000378003.2_Intron|KIF16B_ENST00000408042.1_Missense_Mutation_p.C1184F|KIF16B_ENST00000355755.3_Intron	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B						ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						ATGATTAGCGCAGGCAGCGGC	0.478																																																0			20											40.0	35.0	37.0					20																	16348419		876	1991	2867	16296419	SO:0001627	intron_variant	55614			AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.3498+2811G>T	20.37:g.16348419C>A			16296419	A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	HMMSmart_KISc,superfamily_SSF52540,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1,PatternScan_LECTIN_LEGUME_BETA,superfamily_SMAD_FHA,HMMSmart_FHA,HMMPfam_FHA	p.C1184F	ENST00000354981.2	37	c.3551	CCDS13122.1	20	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.437929	0.01098	.	.	ENSG00000089177	ENST00000408042	T	0.69306	-0.39	5.32	-4.24	0.03777	.	1.661850	0.02520	N	0.092516	T	0.50069	0.1594	.	.	.	0.09310	N	0.99999	B	0.02656	0.0	B	0.04013	0.001	T	0.31558	-0.9939	9	0.72032	D	0.01	.	2.5886	0.04837	0.197:0.2237:0.0968:0.4825	.	1184	Q96L93-2	.	F	1184	ENSP00000384164:C1184F	ENSP00000384164:C1184F	C	-	2	0	KIF16B	16296419	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.064000	0.03461	-1.066000	0.03164	-0.280000	0.10049	TGC	-	NULL		0.478	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf23	protein_coding	OTTHUMT00000078104.2	C	NM_017683		16296419	-1	no_errors	ENST00000408042	ensembl	human	known	54_36p	missense	SNP	0.000	A
AHR	196	genome.wustl.edu	37	7	17349604	17349604	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr7:17349604A>C	ENST00000242057.4	+	2	753	c.110A>C	c.(109-111)aAg>aCg	p.K37T		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	37	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	AATCCTTCCAAGCGGCATAGA	0.363																																																0			7											84.0	73.0	77.0					7																	17349604		2203	4300	6503	17316129	SO:0001583	missense	196			L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"""Basic helix-loop-helix proteins"""	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.110A>C	7.37:g.17349604A>C	ENSP00000242057:p.Lys37Thr		17316129	A4D130|Q13728|Q13803|Q13804	Missense_Mutation	SNP	HMMSmart_SM00353,HMMPfam_HLH,HMMSmart_SM00091,HMMPfam_PAS,superfamily_PYP-like sensor domain (PAS domain),HMMPfam_PAS_3,HMMSmart_SM00086	p.K37T	ENST00000242057.4	37	c.110	CCDS5366.1	7	.	.	.	.	.	.	.	.	.	.	A	27.6	4.841816	0.91197	.	.	ENSG00000106546	ENST00000242057	D	0.98649	-5.05	5.45	5.45	0.79879	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99375	0.9780	H	0.94306	3.52	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98655	1.0681	10	0.87932	D	0	.	15.861	0.79021	1.0:0.0:0.0:0.0	.	37	P35869	AHR_HUMAN	T	37	ENSP00000242057:K37T	ENSP00000242057:K37T	K	+	2	0	AHR	17316129	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.284000	0.95882	2.199000	0.70637	0.529000	0.55759	AAG	-	HMMSmart_SM00353,HMMPfam_HLH		0.363	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AHR	protein_coding	OTTHUMT00000314620.2	A	NM_001621		17316129	+1	no_errors	NM_001621	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
BEND2	139105	genome.wustl.edu	37	X	18234816	18234816	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chrX:18234816G>T	ENST00000380033.4	-	2	195	c.63C>A	c.(61-63)aaC>aaA	p.N21K	BEND2_ENST00000380030.3_Missense_Mutation_p.N21K	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	21										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						TGCAATCATTGTTATCATCAC	0.338																																																0			X											132.0	101.0	112.0					X																	18234816		2203	4300	6503	18144737	SO:0001583	missense	139105			AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.63C>A	X.37:g.18234816G>T	ENSP00000369372:p.Asn21Lys		18144737	E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	HMMPfam_BEN	p.N21K	ENST00000380033.4	37	c.63	CCDS14184.1	X	.	.	.	.	.	.	.	.	.	.	g	10.34	1.324420	0.24080	.	.	ENSG00000177324	ENST00000380033;ENST00000380030	T;T	0.33438	1.48;1.41	3.63	-2.6	0.06190	.	2.076100	0.02777	N	0.120468	T	0.20659	0.0497	N	0.19112	0.55	0.09310	N	1	P;P	0.42827	0.791;0.791	B;B	0.38020	0.263;0.263	T	0.32877	-0.9890	10	0.62326	D	0.03	-0.0569	8.9518	0.35794	0.7177:0.0:0.2823:0.0	.	21;21	E9PFY2;Q8NDZ0	.;BEND2_HUMAN	K	21	ENSP00000369372:N21K;ENSP00000369369:N21K	ENSP00000369369:N21K	N	-	3	2	BEND2	18144737	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.280000	0.02804	-0.788000	0.04504	0.597000	0.82753	AAC	-	NULL		0.338	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND2	protein_coding	OTTHUMT00000055940.1	G	NM_153346		18144737	-1	no_errors	NM_153346	genbank	human	validated	54_36p	missense	SNP	0.000	T
RNF112	7732	genome.wustl.edu	37	17	19315904	19315904	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr17:19315904G>C	ENST00000461366.1	+	3	404	c.189G>C	c.(187-189)agG>agC	p.R63S	RNF112_ENST00000580109.1_3'UTR|CTB-187M2.2_ENST00000579897.1_RNA	NM_007148.4	NP_009079.2	Q9ULX5	RN112_HUMAN	ring finger protein 112	63						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						GCCTGGAGAGGTTGCGCGACC	0.657																																																0			17											41.0	42.0	42.0					17																	19315904		2029	4188	6217	19256497	SO:0001583	missense	7732			AF054587	CCDS58529.1	17p11.2	2013-01-16	2008-06-13	2008-06-13	ENSG00000128482	ENSG00000128482		"""RING-type (C3HC4) zinc fingers"""	12968	protein-coding gene	gene with protein product		601237	"""zinc finger protein 179"""	ZNF179		8660987, 9806830	Standard	NM_007148		Approved	BFP	uc010vyw.2	Q9ULX5	OTTHUMG00000059601	ENST00000461366.1:c.189G>C	17.37:g.19315904G>C	ENSP00000454919:p.Arg63Ser		19256497	O60633|Q7Z5V9	Missense_Mutation	SNP	superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_GBP	p.R63S	ENST00000461366.1	37	c.189	CCDS58529.1	17																																																																																			-	superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4		0.657	RNF112-001	NOVEL	basic|appris_principal|CCDS	protein_coding	RNF112	protein_coding	OTTHUMT00000132549.4	G	NM_007148		19256497	+1	no_errors	ENST00000299604	ensembl	human	known	54_36p	missense	SNP	0.006	C
SERPIND1	3053	genome.wustl.edu	37	22	21134129	21134129	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr22:21134129G>C	ENST00000215727.5	+	2	812	c.529G>C	c.(529-531)Gtg>Ctg	p.V177L	SERPIND1_ENST00000406799.1_Missense_Mutation_p.V177L|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000466162.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	177					blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)|Sulodexide(DB06271)	CCATGAACAAGTGCACTCGAT	0.433																																																0			22											110.0	107.0	108.0					22																	21134129		2203	4300	6503	19464129	SO:0001583	missense	3053			M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"""Serine (or cysteine) peptidase inhibitors"""	4838	protein-coding gene	gene with protein product	"""heparin cofactor II"""	142360	"""serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"""	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.529G>C	22.37:g.21134129G>C	ENSP00000215727:p.Val177Leu		19464129	B2RAI1|D3DX34|Q6IBZ5	Missense_Mutation	SNP	PatternScan_TONB_DEPENDENT_REC_1,superfamily_Serpins,HMMPfam_Serpin,HMMSmart_SM00093,PatternScan_SERPIN	p.V177L	ENST00000215727.5	37	c.529	CCDS13783.1	22	.	.	.	.	.	.	.	.	.	.	G	12.22	1.871963	0.33069	.	.	ENSG00000099937	ENST00000215727;ENST00000406799	T;T	0.81163	-1.46;-1.46	5.81	4.74	0.60224	Serpin domain (3);	0.105782	0.64402	D	0.000004	T	0.63988	0.2558	N	0.05031	-0.125	0.50313	D	0.999864	B;B	0.13145	0.007;0.007	B;B	0.21546	0.035;0.035	T	0.58685	-0.7593	10	0.19590	T	0.45	.	16.373	0.83371	0.0:0.1317:0.8683:0.0	.	177;177	Q8IVC0;P05546	.;HEP2_HUMAN	L	177	ENSP00000215727:V177L;ENSP00000384050:V177L	ENSP00000215727:V177L	V	+	1	0	SERPIND1	19464129	1.000000	0.71417	0.946000	0.38457	0.955000	0.61496	3.556000	0.53734	2.756000	0.94617	0.650000	0.86243	GTG	-	superfamily_Serpins,HMMPfam_Serpin,HMMSmart_SM00093		0.433	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPIND1	protein_coding	OTTHUMT00000319961.1	G	NM_000185		19464129	+1	no_errors	NM_000185	genbank	human	reviewed	54_36p	missense	SNP	0.964	C
Unknown	0	genome.wustl.edu	37	16	21531517	21531517	+	IGR	SNP	G	G	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr16:21531517G>A								MIR3680-1 (14061 upstream) : SCARNA6 (67430 downstream)																							CACGATGACGGCCACGCCCTT	0.711																																																0			16																																								21439018	SO:0001628	intergenic_variant	387254																															16.37:g.21531517G>A			21439018		RNA	SNP	-	NULL		37	NULL		16																																																																																			-	-	0	0.711					IMAA			G			21439018	-1	pseudogene	NR_002594	genbank	human	predicted	54_36p	rna	SNP	1.000	A
FLJ36000	284124	genome.wustl.edu	37	17	21904139	21904139	+	lincRNA	SNP	T	T	G	rs548399068	byFrequency	TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr17:21904139T>G	ENST00000581223.2	+	0	0					NR_027084.1																						ccgagcaggatgaggaaacca	0.692													T|||	3	0.000599042	0.0	0.0	5008	,	,		240080	0.0		0.001	False		,,,				2504	0.002															0			17																																								21828266			0																															17.37:g.21904139T>G			21828266		Missense_Mutation	SNP	NULL	p.M1R	ENST00000581223.2	37	c.2		17																																																																																			-	NULL		0.692	RP11-744K17.9-001	KNOWN	basic	lincRNA	LOC100132820	lincRNA	OTTHUMT00000451067.1	T			21828266	+1	no_errors	XM_001716790	genbank	human	model	54_36p	missense	SNP	0.000	G
OCA2	4948	genome.wustl.edu	37	15	28260041	28260041	+	Nonsense_Mutation	SNP	G	G	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr15:28260041G>A	ENST00000354638.3	-	9	1080	c.925C>T	c.(925-927)Cag>Tag	p.Q309*	OCA2_ENST00000353809.5_Nonsense_Mutation_p.Q309*|OCA2_ENST00000382996.2_Nonsense_Mutation_p.Q309*	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	309					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		TGGGTCTGCTGCAGGGAGGCC	0.572									Oculocutaneous Albinism																																							0			15											106.0	80.0	89.0					15																	28260041		2203	4300	6503	25933636	SO:0001587	stop_gained	4948	Familial Cancer Database			CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.925C>T	15.37:g.28260041G>A	ENSP00000346659:p.Gln309*		25933636	Q15211|Q15212|Q96EN1|Q9UMI5	Nonsense_Mutation	SNP	HMMPfam_CitMHS	p.Q309*	ENST00000354638.3	37	c.925	CCDS10020.1	15	.	.	.	.	.	.	.	.	.	.	G	35	5.429854	0.96131	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996	.	.	.	5.55	5.55	0.83447	.	0.188644	0.47455	D	0.000224	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-5.9121	17.0083	0.86399	0.0:0.0:1.0:0.0	.	.	.	.	X	309	.	ENSP00000261276:Q309X	Q	-	1	0	OCA2	25933636	1.000000	0.71417	0.913000	0.36048	0.129000	0.20672	6.045000	0.71020	2.618000	0.88619	0.655000	0.94253	CAG	-	NULL		0.572	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OCA2	protein_coding	OTTHUMT00000250823.1	G	NM_000275		25933636	-1	no_errors	NM_000275	genbank	human	reviewed	54_36p	nonsense	SNP	0.998	A
SLC17A2	10246	genome.wustl.edu	37	6	25921482	25921482	+	Silent	SNP	G	G	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr6:25921482G>T	ENST00000265425.3	-	3	419	c.399C>A	c.(397-399)acC>acA	p.T133T	SLC17A2_ENST00000377850.3_Silent_p.T133T|SLC17A2_ENST00000360488.3_Silent_p.T133T			O00624	NPT3_HUMAN	solute carrier family 17, member 2	133					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						GTGTAAAGAGGGTGAGAAGGG	0.463																																																0			6											143.0	127.0	133.0					6																	25921482		2203	4300	6503	26029461	SO:0001819	synonymous_variant	10246			U90544	CCDS4567.1, CCDS69060.1	6p22.2	2013-07-18	2013-07-18		ENSG00000112337	ENSG00000112337		"""Solute carriers"""	10930	protein-coding gene	gene with protein product		611049	"""solute carrier family 17 (sodium phosphate), member 2"""			9149941	Standard	NM_001286123		Approved	NPT3	uc003nfl.3	O00624	OTTHUMG00000014413	ENST00000265425.3:c.399C>A	6.37:g.25921482G>T			26029461	A6NK81|A6NLD6|Q5TB84|Q76P85	Silent	SNP	superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1	p.T133	ENST00000265425.3	37	c.399		6																																																																																			-	superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1		0.463	SLC17A2-002	KNOWN	basic|appris_principal	protein_coding	SLC17A2	protein_coding	OTTHUMT00000040075.1	G			26029461	-1	no_errors	NM_005835	genbank	human	provisional	54_36p	silent	SNP	0.999	T
PTCHD3	374308	genome.wustl.edu	37	10	27692187	27692187	+	Silent	SNP	C	C	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr10:27692187C>T	ENST00000438700.3	-	3	1428	c.1311G>A	c.(1309-1311)ggG>ggA	p.G437G		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	437	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CAAATGGCACCCCAATGTGCA	0.483																																																0			10											131.0	125.0	127.0					10																	27692187		2203	4300	6503	27732193	SO:0001819	synonymous_variant	374308			AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.1311G>A	10.37:g.27692187C>T			27732193	I3L499|Q6ZU28	Silent	SNP	HMMPfam_Patched,superfamily_Multidrug efflux transporter AcrB transmembrane domain	p.G437	ENST00000438700.3	37	c.1311	CCDS31173.1	10																																																																																			-	HMMPfam_Patched,superfamily_Multidrug efflux transporter AcrB transmembrane domain		0.483	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD3	protein_coding	OTTHUMT00000047325.3	C	XM_370541		27732193	-1	no_errors	NM_001034842	genbank	human	validated	54_36p	silent	SNP	0.971	T
PTCHD3	374308	genome.wustl.edu	37	10	27692273	27692273	+	Silent	SNP	G	G	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr10:27692273G>T	ENST00000438700.3	-	3	1342	c.1225C>A	c.(1225-1227)Cga>Aga	p.R409R		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	409	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						ATTTTGTTTCGTATGCAGTCA	0.438																																																0			10											106.0	98.0	101.0					10																	27692273		2203	4300	6503	27732279	SO:0001819	synonymous_variant	374308			AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.1225C>A	10.37:g.27692273G>T			27732279	I3L499|Q6ZU28	Silent	SNP	HMMPfam_Patched,superfamily_Multidrug efflux transporter AcrB transmembrane domain	p.R409	ENST00000438700.3	37	c.1225	CCDS31173.1	10																																																																																			-	HMMPfam_Patched,superfamily_Multidrug efflux transporter AcrB transmembrane domain		0.438	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD3	protein_coding	OTTHUMT00000047325.3	G	XM_370541		27732279	-1	no_errors	NM_001034842	genbank	human	validated	54_36p	silent	SNP	0.002	T
TMEM98	26022	genome.wustl.edu	37	17	31260246	31260246	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr17:31260246A>C	ENST00000579849.1	+	4	617	c.186A>C	c.(184-186)ttA>ttC	p.L62F	TMEM98_ENST00000578289.1_Missense_Mutation_p.L62F|TMEM98_ENST00000394642.3_Missense_Mutation_p.L62F	NM_015544.2	NP_056359.2	Q9Y2Y6	TMM98_HUMAN	transmembrane protein 98	62						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(2)|large_intestine(1)	3		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			CCTCTGAGTTAGAACTGGACG	0.532																																																0			17											142.0	125.0	131.0					17																	31260246		2203	4300	6503	28284359	SO:0001583	missense	26022			CR605381	CCDS11274.1	17q11.2	2005-12-16			ENSG00000006042	ENSG00000006042			24529	protein-coding gene	gene with protein product		615949				11230166	Standard	NM_001301746		Approved	DKFZP564K1964	uc002hhr.3	Q9Y2Y6	OTTHUMG00000132882	ENST00000579849.1:c.186A>C	17.37:g.31260246A>C	ENSP00000463245:p.Leu62Phe		28284359	E1P631|Q9UFK2	Missense_Mutation	SNP	NULL	p.L62F	ENST00000579849.1	37	c.186	CCDS11274.1	17	.	.	.	.	.	.	.	.	.	.	A	19.34	3.808408	0.70797	.	.	ENSG00000006042	ENST00000394642;ENST00000261713;ENST00000395149;ENST00000439138	T;T;T;T	0.48836	0.8;0.8;0.83;0.81	5.18	-5.92	0.02261	.	0.077389	0.52532	D	0.000066	T	0.36524	0.0970	N	0.14661	0.345	0.80722	D	1	D	0.59767	0.986	P	0.55923	0.787	T	0.63721	-0.6573	10	0.39692	T	0.17	-6.2055	14.9486	0.71054	0.4108:0.0:0.5892:0.0	.	62	Q9Y2Y6	TMM98_HUMAN	F	62	ENSP00000378138:L62F;ENSP00000261713:L62F;ENSP00000398446:L62F;ENSP00000406394:L62F	ENSP00000261713:L62F	L	+	3	2	TMEM98	28284359	0.843000	0.29541	0.898000	0.35279	0.938000	0.57974	-0.006000	0.12833	2.411000	0.81874	0.563000	0.77884	TTA	-	NULL		0.532	TMEM98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM98	protein_coding	OTTHUMT00000256372.2	A	NM_015544		28284359	+1	no_errors	NM_001033504	genbank	human	validated	54_36p	missense	SNP	0.999	C
OR10C1	442194	genome.wustl.edu	37	6	29407904	29407904	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr6:29407904G>C	ENST00000444197.2	+	1	822	c.112G>C	c.(112-114)Gtg>Ctg	p.V38L	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	38						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CCTGCTGACCGTGGCAGGCAA	0.562																																																0			6											179.0	154.0	163.0					6																	29407904		1511	2709	4220	29515883	SO:0001583	missense	442194				CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"""GPCR / Class A : Olfactory receptors"""	8165	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily C, member 2"", ""olfactory receptor, family 10, subfamily C, member 1"""	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.112G>C	6.37:g.29407904G>C	ENSP00000419119:p.Val38Leu		29515883	Q5SUN7|Q96R18	Missense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.V38L	ENST00000444197.2	37	c.112	CCDS34364.1	6	.	.	.	.	.	.	.	.	.	.	G	0.199	-1.046529	0.01997	.	.	ENSG00000206474	ENST00000444197	T	0.00640	6.03	3.64	1.71	0.24356	.	0.000000	0.31438	U	0.007657	T	0.00109	0.0003	N	0.03238	-0.38	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.31779	-0.9931	10	0.02654	T	1	.	6.3942	0.21603	0.0:0.2969:0.3786:0.3245	.	38	Q96KK4	O10C1_HUMAN	L	38	ENSP00000419119:V38L	ENSP00000419119:V38L	V	+	1	0	OR10C1	29515883	0.000000	0.05858	0.003000	0.11579	0.972000	0.66771	-2.871000	0.00720	0.284000	0.22305	0.537000	0.68136	GTG	-	superfamily_SSF81321		0.562	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10C1	protein_coding	OTTHUMT00000076415.2	G			29515883	+1	no_errors	NM_013941	genbank	human	provisional	54_36p	missense	SNP	0.001	C
KCNA4	3739	genome.wustl.edu	37	11	30033400	30033400	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr11:30033400C>A	ENST00000328224.6	-	2	2059	c.826G>T	c.(826-828)Gtg>Ttg	p.V276L	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	276					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	TCTTCTCTCACAAAGCCCTCG	0.512																																																0			11											60.0	56.0	57.0					11																	30033400		1889	4126	6015	29989976	SO:0001583	missense	3739			M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.826G>T	11.37:g.30033400C>A	ENSP00000328511:p.Val276Leu		29989976		Missense_Mutation	SNP	HMMPfam_K_channel_TID,superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans	p.V276L	ENST00000328224.6	37	c.826	CCDS41629.1	11	.	.	.	.	.	.	.	.	.	.	C	12.02	1.812518	0.32053	.	.	ENSG00000182255	ENST00000328224	D	0.96685	-4.09	5.05	5.05	0.67936	BTB/POZ-like (1);	0.000000	0.64402	D	0.000001	D	0.92711	0.7683	N	0.20766	0.605	0.58432	D	0.999999	B	0.17465	0.022	B	0.22601	0.04	D	0.88943	0.3381	10	0.37606	T	0.19	.	18.4298	0.90622	0.0:1.0:0.0:0.0	.	276	P22459	KCNA4_HUMAN	L	276	ENSP00000328511:V276L	ENSP00000328511:V276L	V	-	1	0	KCNA4	29989976	1.000000	0.71417	0.996000	0.52242	0.908000	0.53690	4.942000	0.63547	2.355000	0.79922	0.655000	0.94253	GTG	-	HMMSmart_SM00225		0.512	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA4	protein_coding	OTTHUMT00000388074.2	C	NM_002233		29989976	-1	no_errors	NM_002233	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
FBXL19	54620	genome.wustl.edu	37	16	30941565	30941565	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr16:30941565C>G	ENST00000380310.2	+	7	1179	c.1021C>G	c.(1021-1023)Ctg>Gtg	p.L341V	FBXL19_ENST00000565690.1_Missense_Mutation_p.L205V|FBXL19_ENST00000471231.2_Missense_Mutation_p.L29V|FBXL19_ENST00000562319.1_Missense_Mutation_p.L321V|FBXL19_ENST00000338343.4_Missense_Mutation_p.L321V	NM_001099784.2	NP_001093254.2	Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	341	Ser-rich.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	SCF ubiquitin ligase complex (GO:0019005)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						GGGCACATCGCTGAGTGAGGA	0.682																																																0			16											27.0	30.0	29.0					16																	30941565		2016	4165	6181	30849066	SO:0001583	missense	54620			AK127701	CCDS45465.1, CCDS73873.1	16p11.2	2014-02-20			ENSG00000099364	ENSG00000099364		"""F-boxes / Leucine-rich repeats"""	25300	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1C"""	609085					Standard	NM_001099784		Approved	DKFZp434K0410, Fbl19, JHDM1C, CXXC11	uc002eab.2	Q6PCT2	OTTHUMG00000132403	ENST00000380310.2:c.1021C>G	16.37:g.30941565C>G	ENSP00000369666:p.Leu341Val		30849066	A8MT10|Q8N789|Q9NT14	Missense_Mutation	SNP	HMMPfam_zf-CXXC,HMMSmart_SM00249,PatternScan_ZF_PHD_1,HMMSmart_SM00256,HMMPfam_F-box,superfamily_RNI-like,HMMSmart_SM00367	p.L341V	ENST00000380310.2	37	c.1021	CCDS45465.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.60|11.60	1.687677|1.687677	0.29962|0.29962	.|.	.|.	ENSG00000099364|ENSG00000099364	ENST00000427128|ENST00000338343;ENST00000380310	.|T;T	.|0.22743	.|1.94;2.26	5.3|5.3	4.35|4.35	0.52113|0.52113	.|.	.|2.607160	.|0.01630	.|N	.|0.023479	T|T	0.14098|0.14098	0.0341|0.0341	N|N	0.08118|0.08118	0|0	0.26649|0.26649	N|N	0.972138|0.972138	.|B;B	.|0.17667	.|0.023;0.02	.|B;B	.|0.17722	.|0.019;0.013	T|T	0.21690|0.21690	-1.0238|-1.0238	5|10	.|0.25751	.|T	.|0.34	-7.4249|-7.4249	8.72|8.72	0.34434|0.34434	0.0:0.7667:0.1515:0.0817|0.0:0.7667:0.1515:0.0817	.|.	.|341;298	.|Q6PCT2;Q6PCT2-2	.|FXL19_HUMAN;.	G|V	232|321;341	.|ENSP00000339712:L321V;ENSP00000369666:L341V	.|ENSP00000339712:L321V	A|L	+|+	2|1	0|2	FBXL19|FBXL19	30849066|30849066	0.111000|0.111000	0.22076|0.22076	0.992000|0.992000	0.48379|0.48379	0.935000|0.935000	0.57460|0.57460	2.326000|2.326000	0.43849|0.43849	1.248000|1.248000	0.43934|0.43934	-0.140000|-0.140000	0.14226|0.14226	GCT|CTG	-	NULL		0.682	FBXL19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL19	protein_coding		C	NM_019085		30849066	+1	no_errors	NM_001099784	genbank	human	provisional	54_36p	missense	SNP	0.971	G
CDH6	1004	genome.wustl.edu	37	5	31193872	31193872	+	5'UTR	SNP	C	C	G	rs574538538|rs11554607	byFrequency	TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr5:31193872C>G	ENST00000265071.2	+	0	16				RP11-152K4.2_ENST00000523584.1_RNA|CDH6_ENST00000514738.1_5'UTR	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)						adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ATCCCAAGAGCTGCAGTTTCA	0.662													C|||	12	0.00239617	0.0	0.0072	5008	,	,		9824	0.0		0.007	False		,,,				2504	0.0															0			5																																								31229629	SO:0001623	5_prime_UTR_variant	0			D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.-250C>G	5.37:g.31193872C>G			31229629	A8K5H5|Q9BWS0	Missense_Mutation	SNP	NULL	p.A44G	ENST00000265071.2	37	c.131	CCDS3894.1	5																																																																																			-	NULL		0.662	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100128783	protein_coding	OTTHUMT00000207355.2	C	NM_004932		31229629	+1	no_errors	XM_001717030	genbank	human	model	54_36p	missense	SNP	1.000	G
DENND5B	160518	genome.wustl.edu	37	12	31540716	31540716	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr12:31540716G>A	ENST00000389082.5	-	21	3910	c.3646C>T	c.(3646-3648)Cgc>Tgc	p.R1216C	DENND5B_ENST00000536562.1_Missense_Mutation_p.R1251C|DENND5B_ENST00000306833.6_Missense_Mutation_p.R1251C	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	1216	RUN 2. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R1216C(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GGGAGCAGGCGATCCCTACAG	0.527																																																1	Substitution - Missense(1)	large_intestine(1)	12											74.0	69.0	70.0					12																	31540716		2032	4185	6217	31431983	SO:0001583	missense	160518			AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.3646C>T	12.37:g.31540716G>A	ENSP00000373734:p.Arg1216Cys		31431983	B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	HMMPfam_uDENN,HMMSmart_SM00800,HMMPfam_DENN,HMMSmart_SM00799,HMMPfam_dDENN,HMMSmart_SM00801,HMMPfam_RUN,HMMSmart_SM00593,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_PLAT	p.R1216C	ENST00000389082.5	37	c.3646	CCDS44857.1	12	.	.	.	.	.	.	.	.	.	.	G	32	5.135511	0.94517	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562	T;T;T	0.32023	1.47;1.47;1.47	5.29	5.29	0.74685	RUN (3);	0.304535	0.31821	N	0.007005	T	0.45216	0.1331	L	0.40543	1.245	0.58432	D	0.999999	D;D	0.69078	0.994;0.997	P;P	0.58820	0.846;0.761	T	0.37641	-0.9697	10	0.87932	D	0	-19.5091	19.1165	0.93343	0.0:0.0:1.0:0.0	.	1216;1251	Q6ZUT9;G3V1S3	DEN5B_HUMAN;.	C	1216;1251;1251	ENSP00000373734:R1216C;ENSP00000306482:R1251C;ENSP00000444889:R1251C	ENSP00000306482:R1251C	R	-	1	0	DENND5B	31431983	1.000000	0.71417	0.941000	0.38009	0.992000	0.81027	7.502000	0.81614	2.761000	0.94854	0.655000	0.94253	CGC	-	HMMSmart_SM00593		0.527	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND5B	protein_coding	OTTHUMT00000402040.1	G	NM_144973		31431983	-1	no_errors	NM_144973	genbank	human	validated	54_36p	missense	SNP	1.000	A
C2	717	genome.wustl.edu	37	6	31905147	31905147	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr6:31905147A>G	ENST00000299367.5	+	8	1316	c.1040A>G	c.(1039-1041)tAt>tGt	p.Y347C	C2_ENST00000442278.2_Missense_Mutation_p.Y215C|CFB_ENST00000456570.1_Missense_Mutation_p.Y194C|CFB_ENST00000556679.1_Missense_Mutation_p.Y194C|CFB_ENST00000477310.1_Missense_Mutation_p.Y165C|C2_ENST00000469372.1_Missense_Mutation_p.Y101C|C2_ENST00000452323.2_Missense_Mutation_p.Y133C	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	347	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		AACAGTGTCTATCTCATGATG	0.468																																																0			6											203.0	198.0	200.0					6																	31905147		1511	2709	4220	32013126	SO:0001583	missense	717				CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"""Complement system"""	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.1040A>G	6.37:g.31905147A>G	ENSP00000299367:p.Tyr347Cys		32013126	B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	superfamily_Complement control module/SCR domain,HMMSmart_SM00032,HMMPfam_Sushi,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER	p.Y347C	ENST00000299367.5	37	c.1040	CCDS4728.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.79|12.79	2.044373|2.044373	0.36085|0.36085	.|.	.|.	ENSG00000166278|ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000243649;ENSG00000244255;ENSG00000244255	ENST00000383177|ENST00000469372;ENST00000497706;ENST00000432397;ENST00000452323;ENST00000299367;ENST00000375493;ENST00000442278;ENST00000556679;ENST00000456570;ENST00000477310	.|D;D;D;D;D;D;D;D	.|0.83914	.|-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78	4.97|4.97	3.77|3.77	0.43336|0.43336	.|von Willebrand factor, type A (3);	.|0.995291	.|0.08133	.|N	.|0.992798	D|D	0.87374|0.87374	0.6161|0.6161	M|M	0.84326|0.84326	2.69|2.69	0.25926|0.25926	N|N	0.983056|0.983056	.|D;D;D;D;D;D;D;D	.|0.89917	.|0.997;0.999;1.0;0.999;0.998;0.998;0.986;0.999	.|D;D;D;D;D;D;D;D	.|0.76071	.|0.923;0.959;0.987;0.975;0.959;0.959;0.987;0.961	T|T	0.73678|0.73678	-0.3907|-0.3907	5|10	.|0.72032	.|D	.|0.01	-5.9105|-5.9105	8.8854|8.8854	0.35400|0.35400	0.8334:0.0:0.0:0.1666|0.8334:0.0:0.0:0.1666	.|.	.|194;318;133;101;215;215;347;134	.|B4E1Z4;B4DV48;B4DPF3;B4DQI1;E9PFN7;B4DV20;P06681;E9PDZ0	.|.;.;.;.;.;.;CO2_HUMAN;.	V|C	121|101;134;134;133;347;32;215;194;194;165	.|ENSP00000418923:Y101C;ENSP00000417482:Y134C;ENSP00000392322:Y133C;ENSP00000299367:Y347C;ENSP00000395683:Y215C;ENSP00000451848:Y194C;ENSP00000410815:Y194C;ENSP00000418996:Y165C	.|ENSP00000299367:Y347C	I|Y	+|+	1|2	0|0	C2|CFB;C2;XXbac-BPG116M5.17	32013126|32013126	0.925000|0.925000	0.31364|0.31364	0.216000|0.216000	0.23742|0.23742	0.143000|0.143000	0.21401|0.21401	3.240000|3.240000	0.51368|0.51368	0.886000|0.886000	0.36113|0.36113	0.445000|0.445000	0.29226|0.29226	ATC|TAT	-	superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA		0.468	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2	protein_coding	OTTHUMT00000076379.9	A			32013126	+1	no_errors	NM_000063	genbank	human	reviewed	54_36p	missense	SNP	0.077	G
RGL2	5863	genome.wustl.edu	37	6	33264610	33264610	+	Intron	SNP	C	C	G			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr6:33264610C>G	ENST00000497454.1	-	4	736				RGL2_ENST00000437840.2_Intron|PFDN6_ENST00000463584.1_Missense_Mutation_p.L89V|RGL2_ENST00000444031.2_Intron	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2						positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						ACCTAGATTTCTGAGGACAAT	0.537																																																0			6																																								33372588	SO:0001627	intron_variant	10471				CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"""RAB2, member RAS oncogene family-like"""	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.241-57G>C	6.37:g.33264610C>G			33372588	B4DG72|Q5STK0|Q9Y3F3	Missense_Mutation	SNP	superfamily_Prefoldin,HMMPfam_Prefoldin_2	p.L89V	ENST00000497454.1	37	c.265	CCDS4774.1	6	.	.	.	.	.	.	.	.	.	.	C	0.641	-0.813446	0.02798	.	.	ENSG00000204220	ENST00000463584	.	.	.	3.92	3.05	0.35203	.	.	.	.	.	T	0.24470	0.0593	.	.	.	0.18873	N	0.999982	.	.	.	.	.	.	T	0.14559	-1.0468	5	0.56958	D	0.05	.	7.7461	0.28869	0.0:0.8835:0.0:0.1165	.	.	.	.	V	89	.	ENSP00000420135:L89V	L	+	1	2	PFDN6	33372588	0.049000	0.20398	0.009000	0.14445	0.252000	0.25951	2.861000	0.48380	0.985000	0.38656	0.643000	0.83706	CTG	-	HMMPfam_Prefoldin_2		0.537	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFDN6	protein_coding	OTTHUMT00000076098.2	C			33372588	+1	no_errors	ENST00000395134	ensembl	human	known	54_36p	missense	SNP	0.037	G
ZSCAN20	7579	genome.wustl.edu	37	1	33955118	33955118	+	Splice_Site	SNP	G	G	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr1:33955118G>T	ENST00000361328.3	+	5	835	c.682G>T	c.(682-684)Gaa>Taa	p.E228*	ZSCAN20_ENST00000373413.2_Intron	NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	228					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CATCTCGCAGGAAGCCCTGGG	0.567																																																0			1											50.0	53.0	52.0					1																	33955118		1927	4129	6056	33727705	SO:0001630	splice_region_variant	7579			X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"""-"", ""Zinc fingers, C2H2-type"""	13093	protein-coding gene	gene with protein product		611315	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.682-1G>T	1.37:g.33955118G>T			33727705	A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Nonsense_Mutation	SNP	HMMPfam_SCAN,HMMSmart_SM00431,HMMSmart_SM00717,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1	p.E228*	ENST00000361328.3	37	c.682	CCDS41300.1	1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.223344	0.58668	.	.	ENSG00000121903	ENST00000326544;ENST00000361328;ENST00000401072	.	.	.	5.6	4.66	0.58398	.	0.307976	0.28241	N	0.016069	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.0841	12.6209	0.56603	0.0:0.1666:0.8334:0.0	.	.	.	.	X	228;162;162	.	.	E	+	1	0	ZSCAN20	33727705	1.000000	0.71417	0.993000	0.49108	0.081000	0.17604	0.880000	0.28159	1.474000	0.48178	0.555000	0.69702	GAA	-	NULL		0.567	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN20	protein_coding	OTTHUMT00000277003.2	G	NM_145238	Nonsense_Mutation	33727705	+1	no_errors	NM_145238	genbank	human	validated	54_36p	nonsense	SNP	0.956	T
NR1D1	9572	genome.wustl.edu	37	17	38256336	38256336	+	Silent	SNP	C	C	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr17:38256336C>T	ENST00000246672.3	-	1	642	c.12G>A	c.(10-12)ctG>ctA	p.L4L		NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	4	Modulating.				cell differentiation (GO:0030154)|cellular response to lipopolysaccharide (GO:0071222)|circadian regulation of gene expression (GO:0032922)|circadian temperature homeostasis (GO:0060086)|gene expression (GO:0010467)|glycogen biosynthetic process (GO:0005978)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of bile acid biosynthetic process (GO:0070859)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasomal protein catabolic process (GO:0010498)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|regulation of fat cell differentiation (GO:0045598)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of lipid metabolic process (GO:0019216)|regulation of type B pancreatic cell proliferation (GO:0061469)|response to leptin (GO:0044321)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|heme binding (GO:0020037)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|transcription corepressor binding (GO:0001222)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					TGTTGGAGTCCAGGGTCGTCA	0.498																																																0			17											217.0	179.0	192.0					17																	38256336		2203	4300	6503	35509862	SO:0001819	synonymous_variant	9572			X72631	CCDS11361.1	17q11.2	2013-01-16			ENSG00000126368	ENSG00000126368		"""Nuclear hormone receptors"""	7962	protein-coding gene	gene with protein product		602408		THRAL		1971514	Standard	NM_021724		Approved	ear-1, hRev, Rev-ErbAalpha, THRA1	uc002htz.3	P20393	OTTHUMG00000133327	ENST00000246672.3:c.12G>A	17.37:g.38256336C>T			35509862	Q0P5Z4|Q15304	Silent	SNP	HMMSmart_ZnF_C4,HMMPfam_zf-C4,superfamily_SSF57716,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Str_ncl_receptor,HMMSmart_HOLI,HMMPfam_Hormone_recep	p.L4	ENST00000246672.3	37	c.12	CCDS11361.1	17																																																																																			-	NULL		0.498	NR1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1D1	protein_coding	OTTHUMT00000257135.1	C			35509862	-1	no_errors	NM_021724	genbank	human	provisional	54_36p	silent	SNP	0.997	T
TESK1	7016	genome.wustl.edu	37	9	35606004	35606004	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr9:35606004A>T	ENST00000336395.5	+	2	493	c.243A>T	c.(241-243)caA>caT	p.Q81H	MIR4667_ENST00000578933.1_RNA|TESK1_ENST00000498522.1_3'UTR	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	81	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell junction assembly (GO:0034329)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGTCAGGGCAAGTCATGGTGC	0.652																																																0			9											55.0	50.0	52.0					9																	35606004		2203	4300	6503	35596004	SO:0001583	missense	7016			D50863	CCDS6580.1	9p13	2010-04-27			ENSG00000107140	ENSG00000107140	2.7.12.1		11731	protein-coding gene	gene with protein product	"""testis-specific kinase-1"", ""testis specific kinase-1"""	601782				8537404	Standard	NM_006285		Approved		uc003zxa.3	Q15569	OTTHUMG00000019863	ENST00000336395.5:c.243A>T	9.37:g.35606004A>T	ENSP00000338127:p.Gln81His		35596004	Q8IXZ8	Missense_Mutation	SNP	superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR	p.Q81H	ENST00000336395.5	37	c.243	CCDS6580.1	9	.	.	.	.	.	.	.	.	.	.	A	22.7	4.318104	0.81469	.	.	ENSG00000107140	ENST00000336395	T	0.66638	-0.22	4.46	-0.558	0.11796	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.38005	N	0.001844	T	0.56187	0.1968	L	0.38649	1.16	0.48236	D	0.999619	B	0.32968	0.392	B	0.40940	0.344	T	0.49735	-0.8908	10	0.49607	T	0.09	-6.99	8.2936	0.31971	0.5117:0.0:0.4883:0.0	.	81	Q15569	TESK1_HUMAN	H	81	ENSP00000338127:Q81H	ENSP00000338127:Q81H	Q	+	3	2	TESK1	35596004	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	2.601000	0.46249	-0.017000	0.14103	0.523000	0.50628	CAA	-	superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP		0.652	TESK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TESK1	protein_coding	OTTHUMT00000052314.1	A	NM_006285		35596004	+1	no_errors	NM_006285	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
EIF3L	51386	genome.wustl.edu	37	22	38273972	38273972	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr22:38273972C>G	ENST00000412331.2	+	11	1951	c.1369C>G	c.(1369-1371)Ctt>Gtt	p.L457V	EIF3L_ENST00000381683.6_Missense_Mutation_p.L409V|EIF3L_ENST00000406934.1_Missense_Mutation_p.L359V	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L											kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GCAGGCCCAGCTTTCAACCAT	0.547																																																0			22											53.0	50.0	51.0					22																	38273972		2203	4300	6503	36603918	SO:0001583	missense	51386			AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"""eukaryotic translation initiation factor 3, subunit 6 interacting protein"", ""eukaryotic translation initiation factor 3, subunit E interacting protein"""	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.1369C>G	22.37:g.38273972C>G	ENSP00000416892:p.Leu457Val		36603918		Missense_Mutation	SNP	HMMPfam_Paf67	p.L457V	ENST00000412331.2	37	c.1369	CCDS13960.1	22	.	.	.	.	.	.	.	.	.	.	c	12.43	1.934937	0.34189	.	.	ENSG00000100129	ENST00000412331;ENST00000425539;ENST00000381683;ENST00000262832;ENST00000406934	T;T;T	0.44083	0.93;0.93;0.93	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.52837	0.1759	M	0.63169	1.94	0.80722	D	1	D;D;P;P	0.55385	0.971;0.971;0.832;0.934	P;P;P;P	0.51701	0.658;0.658;0.544;0.677	T	0.47394	-0.9121	10	0.25751	T	0.34	-29.0663	18.8132	0.92065	0.0:1.0:0.0:0.0	.	409;359;457;500	B4DYB2;B0QY90;Q9Y262;B0QY89	.;.;EIF3L_HUMAN;.	V	457;500;409;424;359	ENSP00000416892:L457V;ENSP00000371099:L409V;ENSP00000384634:L359V	ENSP00000262832:L424V	L	+	1	0	EIF3L	36603918	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	5.851000	0.69481	2.497000	0.84241	0.443000	0.29094	CTT	-	HMMPfam_Paf67		0.547	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3L	protein_coding	OTTHUMT00000319551.2	C	NM_016091		36603918	+1	no_errors	NM_016091	genbank	human	validated	54_36p	missense	SNP	1.000	G
ANKRD30A	91074	genome.wustl.edu	37	10	37486395	37486395	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr10:37486395A>C	ENST00000602533.1	+	29	2634	c.2535A>C	c.(2533-2535)caA>caC	p.Q845H	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.Q845H|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.Q964H			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	901					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AGAATGAACAAACATTGAGAG	0.323																																																0			10											110.0	97.0	101.0					10																	37486395		1815	4075	5890	37526401	SO:0001583	missense	91074			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.2535A>C	10.37:g.37486395A>C	ENSP00000473551:p.Gln845His		37526401	Q5W025	Missense_Mutation	SNP	superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,PatternScan_ASP_PROTEASE	p.Q845H	ENST00000602533.1	37	c.2535		10	.	.	.	.	.	.	.	.	.	.	.	4.095	0.015647	0.07959	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.08807	3.05;3.05	1.27	-0.102	0.13613	.	.	.	.	.	T	0.07818	0.0196	L	0.27053	0.805	0.09310	N	1	P	0.45531	0.86	P	0.48654	0.585	T	0.26950	-1.0088	9	0.62326	D	0.03	.	3.2425	0.06786	0.7185:0.0:0.2815:0.0	.	901	Q9BXX3	AN30A_HUMAN	H	845;964	ENSP00000354432:Q845H;ENSP00000363792:Q964H	ENSP00000354432:Q845H	Q	+	3	2	ANKRD30A	37526401	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.021000	0.13489	-0.243000	0.09653	-0.537000	0.04273	CAA	-	NULL		0.323	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	ANKRD30A	protein_coding	OTTHUMT00000047588.2	A	NM_052997		37526401	+1	no_errors	NM_052997	genbank	human	validated	54_36p	missense	SNP	0.002	C
RPUSD2	27079	genome.wustl.edu	37	15	40863837	40863837	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr15:40863837A>G	ENST00000315616.7	+	2	679	c.641A>G	c.(640-642)cAt>cGt	p.H214R	RPUSD2_ENST00000559271.1_Missense_Mutation_p.H153R	NM_152260.1	NP_689473.1	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing 2	214					pseudouridine synthesis (GO:0001522)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			kidney(4)|lung(4)|skin(3)	11		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		GTGCACAGGCATGAGCCACCA	0.517																																																0			15											121.0	79.0	93.0					15																	40863837		2203	4300	6503	38651129	SO:0001583	missense	27079			AK055971	CCDS10061.1, CCDS66737.1	15q13.3	2013-02-11	2005-01-31	2005-02-07	ENSG00000166133	ENSG00000166133		"""RNA pseudouridylate synthase domain containing"""	24180	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 19"""	C15orf19		12477932	Standard	NM_001286407		Approved	C18B11, FLJ31409	uc001zmd.1	Q8IZ73	OTTHUMG00000130031	ENST00000315616.7:c.641A>G	15.37:g.40863837A>G	ENSP00000323288:p.His214Arg		38651129	B4DDD1|Q7L989|Q92939|Q96IA7|Q96N50	Missense_Mutation	SNP	superfamily_PsdUridine_synth_cat_dom,HMMPfam_PseudoU_synth_2,PatternScan_PSI_RLU	p.H214R	ENST00000315616.7	37	c.641	CCDS10061.1	15	.	.	.	.	.	.	.	.	.	.	A	27.2	4.805927	0.90623	.	.	ENSG00000166133	ENST00000315616;ENST00000417769	T	0.37235	1.21	5.77	5.77	0.91146	Pseudouridine synthase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.67107	0.2858	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74355	-0.3692	10	0.87932	D	0	-12.8183	16.0957	0.81123	1.0:0.0:0.0:0.0	.	214	Q8IZ73	RUSD2_HUMAN	R	214;193	ENSP00000323288:H214R	ENSP00000323288:H214R	H	+	2	0	RPUSD2	38651129	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.114000	0.94329	2.199000	0.70637	0.533000	0.62120	CAT	-	superfamily_PsdUridine_synth_cat_dom		0.517	RPUSD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPUSD2	protein_coding	OTTHUMT00000252308.2	A	NM_152260		38651129	+1	no_errors	NM_152260	genbank	human	provisional	54_36p	missense	SNP	1.000	G
FAM183B	340286	genome.wustl.edu	37	7	38725542	38725542	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr7:38725542C>T	ENST00000409072.3	-	2	998	c.64G>A	c.(64-66)Gag>Aag	p.E22K				Q6ZVS7	F183B_HUMAN	family with sequence similarity 183, member B	22										endometrium(1)|lung(7)	8						AGGTACAGCTCCCGCAAGATC	0.567																																																0			7											101.0	104.0	103.0					7																	38725542		1976	4155	6131	38692067	SO:0001583	missense	340286			AK124132, BC045803		7p14.1	2008-08-11			ENSG00000164556	ENSG00000164556			34511	protein-coding gene	gene with protein product							Standard	NR_028347		Approved	LOC340286	uc011kbd.2	Q6ZVS7	OTTHUMG00000153653	ENST00000409072.3:c.64G>A	7.37:g.38725542C>T	ENSP00000386657:p.Glu22Lys		38692067	A4D1Y1	Missense_Mutation	SNP	NULL	p.E22K	ENST00000409072.3	37	c.64		7	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308015	0.81247	.	.	ENSG00000164556	ENST00000409072	.	.	.	0.9	0.9	0.19278	.	0.092126	0.46758	N	0.000273	T	0.45074	0.1324	.	.	.	0.32964	D	0.521451	.	.	.	.	.	.	T	0.53913	-0.8371	6	0.56958	D	0.05	.	4.9573	0.14048	0.0:1.0:0.0:0.0	.	.	.	.	K	22	.	ENSP00000386657:E22K	E	-	1	0	FAM183B	38692067	0.704000	0.27836	0.910000	0.35882	0.913000	0.54294	1.168000	0.31859	0.308000	0.22923	0.313000	0.20887	GAG	-	NULL		0.567	FAM183B-001	NOVEL	basic|appris_principal	protein_coding	FAM183B	protein_coding	OTTHUMT00000331972.1	C	NM_001105282		38692067	-1	no_errors	NM_001105282	genbank	human	validated	54_36p	missense	SNP	0.989	T
SLC4A1	6521	genome.wustl.edu	37	17	42330583	42330583	+	Silent	SNP	G	G	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr17:42330583G>T	ENST00000262418.6	-	17	2369	c.2214C>A	c.(2212-2214)ctC>ctA	p.L738L		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	738	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCATGACAGTGAGGGCGTTGG	0.642																																																0			17											72.0	64.0	66.0					17																	42330583		2203	4300	6503	39686109	SO:0001819	synonymous_variant	6521				CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	11027	protein-coding gene	gene with protein product	"""Froese blood group"", ""Swann blood group"", ""Wright blood group"""	109270	"""Waldner blood group"", ""erythrocyte membrane protein band 3"", ""Diego blood group"", ""solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)"", ""solute carrier family 4 (anion exchanger), member 1"""	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.2214C>A	17.37:g.42330583G>T			39686109	G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Silent	SNP	superfamily_PTrfase/Anion_transptr,HMMPfam_Band_3_cyto,HMMPfam_HCO3_cotransp,PatternScan_ANION_EXCHANGER_1,PatternScan_ANION_EXCHANGER_2	p.L738	ENST00000262418.6	37	c.2214	CCDS11481.1	17																																																																																			-	HMMPfam_HCO3_cotransp		0.642	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A1	protein_coding	OTTHUMT00000346194.1	G	NM_000342		39686109	-1	no_errors	NM_000342	genbank	human	reviewed	54_36p	silent	SNP	0.996	T
SYNE4	163183	genome.wustl.edu	37	19	36497458	36497458	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr19:36497458G>T	ENST00000324444.3	-	5	845	c.734C>A	c.(733-735)aCa>aAa	p.T245K	ALKBH6_ENST00000495116.2_5'Flank|SYNE4_ENST00000340477.5_Missense_Mutation_p.T132K|AC002116.8_ENST00000473572.2_RNA	NM_001039876.1	NP_001034965.1	Q8N205	SYNE4_HUMAN	spectrin repeat containing, nuclear envelope family member 4	245					establishment of epithelial cell apical/basal polarity (GO:0045198)	integral component of nuclear outer membrane (GO:0031309)											CTCCAACTCTGTGGAAGTGGG	0.657																																																0			19											13.0	15.0	14.0					19																	36497458		1842	4079	5921	41189298	SO:0001583	missense	163183			BC038360	CCDS42553.1	19q13.12	2014-01-28	2012-05-31	2012-05-31	ENSG00000181392	ENSG00000181392			26703	protein-coding gene	gene with protein product		615535	"""chromosome 19 open reading frame 46"", ""deafness, autosomal recessive 76"""	C19orf46, DFNB76		23348741	Standard	XM_005258597		Approved	FLJ36445, Nesprin-4, Nesp4	uc002ocq.1	Q8N205	OTTHUMG00000048135	ENST00000324444.3:c.734C>A	19.37:g.36497458G>T	ENSP00000316130:p.Thr245Lys		41189298	A8MRS0|A8MYE3|Q7Z7L3	Missense_Mutation	SNP	HMMPfam_KASH	p.T245K	ENST00000324444.3	37	c.734	CCDS42553.1	19	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080863	0.36758	.	.	ENSG00000181392	ENST00000340477;ENST00000324444	T;T	0.32272	1.46;1.53	5.74	1.49	0.22878	.	0.686003	0.15273	N	0.271124	T	0.13372	0.0324	N	0.08118	0	0.22081	N	0.999378	B;B	0.16166	0.016;0.0	B;B	0.13407	0.009;0.0	T	0.14337	-1.0476	10	0.72032	D	0.01	-24.7888	3.9479	0.09356	0.1862:0.0:0.5506:0.2632	.	132;245	Q8N205-2;Q8N205	.;SYNE4_HUMAN	K	132;245	ENSP00000343152:T132K;ENSP00000316130:T245K	ENSP00000316130:T245K	T	-	2	0	C19orf46	41189298	0.984000	0.35163	0.999000	0.59377	0.453000	0.32348	1.720000	0.38022	1.442000	0.47568	0.655000	0.94253	ACA	-	NULL		0.657	SYNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf46	protein_coding	OTTHUMT00000109525.3	G	NM_001039876		41189298	-1	no_errors	NM_001039876	genbank	human	validated	54_36p	missense	SNP	0.973	T
SCRN2	90507	genome.wustl.edu	37	17	45915751	45915751	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr17:45915751G>C	ENST00000290216.9	-	7	1129	c.1004C>G	c.(1003-1005)aCt>aGt	p.T335S	SCRN2_ENST00000584123.1_Missense_Mutation_p.T343S|SCRN2_ENST00000407215.3_Missense_Mutation_p.T335S	NM_001145023.1|NM_138355.3	NP_001138495.1|NP_612364.2	Q96FV2	SCRN2_HUMAN	secernin 2	335						extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						TGCTCCAAAAGTGGGGGACAG	0.602																																																0			17											60.0	71.0	67.0					17																	45915751		2203	4300	6503	43270750	SO:0001583	missense	90507			BC002980	CCDS11519.1, CCDS45723.1	17q21	2008-02-05							30381	protein-coding gene	gene with protein product		614966				12221138	Standard	NM_001145023		Approved		uc002imd.3	Q96FV2		ENST00000290216.9:c.1004C>G	17.37:g.45915751G>C	ENSP00000290216:p.Thr335Ser		43270750	A8K3N1|B7Z8S7|E9PBV5|Q96AC3|Q9BU04	Missense_Mutation	SNP	NULL	p.T335S	ENST00000290216.9	37	c.1004	CCDS11519.1	17	.	.	.	.	.	.	.	.	.	.	G	8.426	0.847439	0.17034	.	.	ENSG00000141295	ENST00000290216;ENST00000407215	T;T	0.07688	3.34;3.17	5.66	2.34	0.29019	.	0.418550	0.29529	N	0.011889	T	0.04543	0.0124	N	0.17838	0.53	0.33025	D	0.529367	B;B;B	0.12630	0.006;0.006;0.006	B;B;B	0.08055	0.003;0.003;0.003	T	0.33445	-0.9868	10	0.07990	T	0.79	-9.6445	9.2944	0.37806	0.0831:0.4733:0.4436:0.0	.	335;335;335	E9PBV5;Q96FV2;B7Z8S7	.;SCRN2_HUMAN;.	S	335	ENSP00000290216:T335S;ENSP00000383935:T335S	ENSP00000290216:T335S	T	-	2	0	SCRN2	43270750	0.065000	0.20965	0.998000	0.56505	0.980000	0.70556	0.756000	0.26419	0.713000	0.32060	-0.136000	0.14681	ACT	-	NULL		0.602	SCRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCRN2	protein_coding	OTTHUMT00000441383.1	G	NM_138355		43270750	-1	no_errors	NM_138355	genbank	human	validated	54_36p	missense	SNP	1.000	C
NIM1K	167359	genome.wustl.edu	37	5	43280367	43280367	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr5:43280367A>T	ENST00000512796.1	+	4	2346	c.847A>T	c.(847-849)Atc>Ttc	p.I283F	NIM1_ENST00000326035.2_Missense_Mutation_p.I283F			Q8IY84	NIM1_HUMAN		283	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)										AAAAAAGAGCATCCTCGAGGG	0.552																																																0			5											88.0	73.0	78.0					5																	43280367		2203	4300	6503	43316124	SO:0001583	missense	167359																														ENST00000512796.1:c.847A>T	5.37:g.43280367A>T	ENSP00000420849:p.Ile283Phe		43316124	B3KVM1	Missense_Mutation	SNP	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST	p.I283F	ENST00000512796.1	37	c.847	CCDS3943.1	5	.	.	.	.	.	.	.	.	.	.	A	18.38	3.610513	0.66558	.	.	ENSG00000177453	ENST00000326035;ENST00000512796	T;T	0.33654	1.4;1.4	5.73	4.58	0.56647	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.66056	0.2751	M	0.91872	3.25	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.72527	-0.4266	10	0.87932	D	0	.	11.598	0.50986	0.9306:0.0:0.0694:0.0	.	283	Q8IY84	NIM1_HUMAN	F	283	ENSP00000313572:I283F;ENSP00000420849:I283F	ENSP00000313572:I283F	I	+	1	0	AC114947.1	43316124	1.000000	0.71417	1.000000	0.80357	0.346000	0.29079	7.532000	0.81985	1.020000	0.39573	0.533000	0.62120	ATC	-	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase		0.552	NIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MGC42105	protein_coding	OTTHUMT00000368017.1	A			43316124	+1	no_errors	NM_153361	genbank	human	provisional	54_36p	missense	SNP	1.000	T
SZT2	23334	genome.wustl.edu	37	1	43908288	43908288	+	Splice_Site	SNP	A	A	C			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr1:43908288A>C	ENST00000562955.1	+	57	7979	c.7979A>C	c.(7978-7980)aAg>aCg	p.K2660T	SZT2_ENST00000372442.1_Splice_Site_p.K1818T	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2717					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CGAGATGAAAAGGTGCCTGCT	0.517																																																0			1											85.0	87.0	87.0					1																	43908288		2203	4300	6503	43680875	SO:0001630	splice_region_variant	23334			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.7980+1A>C	1.37:g.43908288A>C			43680875	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	NULL	p.K1818T	ENST00000562955.1	37	c.5453	CCDS30694.2	1	.	.	.	.	.	.	.	.	.	.	A	12.74	2.027188	0.35797	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.6	5.6	0.85130	.	0.227348	0.45867	D	0.000334	T	0.45696	0.1355	N	0.22421	0.69	0.27414	N	0.954473	D	0.56035	0.974	P	0.58721	0.844	T	0.41734	-0.9492	9	0.49607	T	0.09	.	13.7409	0.62847	1.0:0.0:0.0:0.0	.	2660	Q5T011-5	.	T	1818	.	ENSP00000361519:K1818T	K	+	2	0	SZT2	43680875	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	3.650000	0.54424	2.140000	0.66376	0.533000	0.62120	AAG	-	NULL		0.517	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0467	protein_coding	OTTHUMT00000019517.3	A	NM_015284	Missense_Mutation	43680875	+1	no_errors	NM_015284	genbank	human	predicted	54_36p	missense	SNP	0.998	C
POLD2	5425	genome.wustl.edu	37	7	44154926	44154926	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr7:44154926T>C	ENST00000406581.2	-	11	1866	c.1217A>G	c.(1216-1218)aAc>aGc	p.N406S	POLD2_ENST00000223361.3_Missense_Mutation_p.N392S|POLD2_ENST00000452185.1_Missense_Mutation_p.N406S	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit	406					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						GCTGGGGGTGTTGCCACAAAA	0.527																																																0			7											83.0	91.0	88.0					7																	44154926		2203	4300	6503	44121451	SO:0001583	missense	5425				CCDS5477.1, CCDS75586.1	7p13	2012-05-18	2012-05-18		ENSG00000106628	ENSG00000106628		"""DNA polymerases"""	9176	protein-coding gene	gene with protein product	"""Pol delta B subunit (p50)"", ""DNA polymerase delta subunit p50"""	600815	"""polymerase (DNA directed), delta 2, regulatory subunit (50kD)"", ""polymerase (DNA directed), delta 2, regulatory subunit 50kDa"""			8530069	Standard	NM_001127218		Approved		uc003tkf.5	P49005	OTTHUMG00000022909	ENST00000406581.2:c.1217A>G	7.37:g.44154926T>C	ENSP00000386105:p.Asn406Ser		44121451	A4D2J4|B2R5S4	Missense_Mutation	SNP	HMMPfam_DNA_pol_E_B	p.N406S	ENST00000406581.2	37	c.1217	CCDS5477.1	7	.	.	.	.	.	.	.	.	.	.	T	14.87	2.664799	0.47572	.	.	ENSG00000106628	ENST00000406581;ENST00000223361;ENST00000452185	T;T;T	0.53423	1.64;0.62;1.64	5.95	2.29	0.28610	DNA polymerase alpha/epsilon, subunit B (1);	0.098391	0.64402	N	0.000002	T	0.50973	0.1647	M	0.64630	1.985	0.58432	D	0.999997	P;P	0.36065	0.535;0.518	P;B	0.46049	0.502;0.274	T	0.45848	-0.9233	10	0.52906	T	0.07	-26.0937	8.8186	0.35011	0.0:0.2761:0.0:0.7239	.	406;392	P49005;F8W8R3	DPOD2_HUMAN;.	S	406;392;406	ENSP00000386105:N406S;ENSP00000223361:N392S;ENSP00000395231:N406S	ENSP00000223361:N392S	N	-	2	0	POLD2	44121451	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	2.208000	0.42797	0.151000	0.19162	-0.274000	0.10170	AAC	-	HMMPfam_DNA_pol_E_B		0.527	POLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLD2	protein_coding	OTTHUMT00000250994.2	T	NM_001127218		44121451	-1	no_errors	NM_006230	genbank	human	validated	54_36p	missense	SNP	1.000	C
SLC6A9	6536	genome.wustl.edu	37	1	44468304	44468304	+	Silent	SNP	C	C	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr1:44468304C>T	ENST00000360584.2	-	7	1148	c.957G>A	c.(955-957)acG>acA	p.T319T	SLC6A9_ENST00000537678.1_Silent_p.T181T|SLC6A9_ENST00000372310.3_Silent_p.T246T|SLC6A9_ENST00000475075.2_Silent_p.T135T|SLC6A9_ENST00000357730.2_Silent_p.T265T|SLC6A9_ENST00000372307.3_Silent_p.T181T|SLC6A9_ENST00000372306.3_Silent_p.T246T	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	319					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)	p.T246T(1)|p.T319T(1)		endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GGAACGTGGCCGTGAAGTACA	0.622																																																2	Substitution - coding silent(2)	large_intestine(2)	1											96.0	95.0	95.0					1																	44468304		2203	4300	6503	44240891	SO:0001819	synonymous_variant	6536			S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"""Solute carriers"""	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.957G>A	1.37:g.44468304C>T			44240891	A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Silent	SNP	HMMPfam_SNF,PatternScan_NA_NEUROTRAN_SYMP_1,PatternScan_NA_NEUROTRAN_SYMP_2	p.T319	ENST00000360584.2	37	c.957	CCDS41317.1	1																																																																																			-	HMMPfam_SNF		0.622	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	SLC6A9	protein_coding	OTTHUMT00000022825.2	C	NM_201649		44240891	-1	no_errors	NM_201649	genbank	human	validated	54_36p	silent	SNP	0.991	T
SELV	348303	genome.wustl.edu	37	19	40009607	40009607	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr19:40009607A>T	ENST00000335426.4	+	4	1053	c.953A>T	c.(952-954)cAt>cTt	p.H318L	SELV_ENST00000423711.1_Missense_Mutation_p.H318L	NM_182704.1	NP_874363.1	P59797	SELV_HUMAN		318					cell redox homeostasis (GO:0045454)		selenium binding (GO:0008430)			breast(1)|endometrium(1)|lung(3)|prostate(1)	6	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGACTGGTCCATTCCAAGAAG	0.592																																																0			19											135.0	137.0	137.0					19																	40009607		2025	4191	6216	44701447	SO:0001583	missense	0																														ENST00000335426.4:c.953A>T	19.37:g.40009607A>T	ENSP00000333956:p.His318Leu		44701447	Q17RG5	Missense_Mutation	SNP	NULL	p.H318L	ENST00000335426.4	37	c.953	CCDS54266.1	19	.	.	.	.	.	.	.	.	.	.	A	17.71	3.457227	0.63401	.	.	ENSG00000186838	ENST00000335426;ENST00000423711	T;T	0.44482	0.92;0.92	3.79	3.79	0.43588	Thioredoxin-like fold (2);	.	.	.	.	T	0.65302	0.2678	M	0.87381	2.88	0.41213	D	0.986456	D	0.89917	1.0	D	0.91635	0.999	T	0.70521	-0.4849	9	0.87932	D	0	-8.7025	9.1538	0.36980	1.0:0.0:0.0:0.0	.	318	P59797	SELV_HUMAN	L	318	ENSP00000333956:H318L;ENSP00000412508:H318L	ENSP00000333956:H318L	H	+	2	0	AC011500.1	44701447	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	3.537000	0.53590	1.716000	0.51395	0.392000	0.25879	CAT	-	NULL		0.592	SELV-001	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	uc002oly.1	protein_coding	OTTHUMT00000389802.1	A			44701447	+1	no_errors	ENST00000335426	ensembl	human	known	54_36p	missense	SNP	0.997	T
CSE1L	1434	genome.wustl.edu	37	20	47686810	47686810	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr20:47686810G>C	ENST00000262982.2	+	8	867	c.744G>C	c.(742-744)ttG>ttC	p.L248F	CSE1L_ENST00000396192.3_Missense_Mutation_p.L248F|CSE1L_ENST00000542325.1_Missense_Mutation_p.L31F	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	248					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			TCTTAACATTGGATAATAAGC	0.303																																																0			20											65.0	74.0	71.0					20																	47686810		2199	4294	6493	47120217	SO:0001583	missense	1434			U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"""Exportins"""	2431	protein-coding gene	gene with protein product	"""cellular apoptosis susceptibility"""	601342	"""chromosome segregation 1 (yeast homolog)-like"""			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.744G>C	20.37:g.47686810G>C	ENSP00000262982:p.Leu248Phe		47120217	A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Missense_Mutation	SNP	superfamily_ARM repeat,HMMPfam_IBN_N,HMMPfam_Cse1,HMMPfam_CAS_CSE1	p.L248F	ENST00000262982.2	37	c.744	CCDS13412.1	20	.	.	.	.	.	.	.	.	.	.	G	13.16	2.155534	0.38021	.	.	ENSG00000124207	ENST00000417408;ENST00000262982;ENST00000542325;ENST00000396192	T;T;T	0.66995	-0.24;-0.24;-0.24	5.64	2.37	0.29283	Armadillo-like helical (1);Armadillo-type fold (1);Exportin/Importin, Cse1-like (1);	0.000000	0.85682	D	0.000000	T	0.45094	0.1325	N	0.16478	0.41	0.80722	D	1	B;B;B	0.23937	0.094;0.025;0.055	B;B;B	0.28638	0.063;0.072;0.092	T	0.10941	-1.0608	10	0.11794	T	0.64	-10.6366	8.4142	0.32662	0.5136:0.0:0.4864:0.0	.	31;248;248	B4DUC5;F8W904;P55060	.;.;XPO2_HUMAN	F	14;248;31;248	ENSP00000262982:L248F;ENSP00000446477:L31F;ENSP00000379495:L248F	ENSP00000262982:L248F	L	+	3	2	CSE1L	47120217	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	2.561000	0.45905	0.277000	0.22141	-0.229000	0.12294	TTG	-	superfamily_ARM repeat,HMMPfam_Cse1		0.303	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSE1L	protein_coding	OTTHUMT00000080345.2	G	NM_001316		47120217	+1	no_errors	NM_001316	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
AGBL4	84871	genome.wustl.edu	37	1	50311825	50311825	+	Intron	SNP	C	C	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr1:50311825C>A	ENST00000371839.1	-	2	274				AGBL4_ENST00000497451.1_Intron|AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371836.1_Intron	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4						C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		AAGGAAAAGCCCTATGGGTTC	0.478																																																0			1																																								50084412	SO:0001627	intron_variant	0			AK027348	CCDS44137.1	1p33	2014-06-23			ENSG00000186094	ENSG00000186094			25892	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 6"""					21074048	Standard	NM_032785		Approved	FLJ14442, CCP6	uc001cru.2	Q5VU57	OTTHUMG00000007793	ENST00000371839.1:c.157+5242G>T	1.37:g.50311825C>A			50084412	B3KT26|B4DG37	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.P389H	ENST00000371839.1	37	c.1166	CCDS44137.1	1																																																																																			-	superfamily_C2H2 and C2HC zinc fingers		0.478	AGBL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF859P	protein_coding	OTTHUMT00000021346.4	C	NM_032785		50084412	+1	no_start_codon	ENST00000401053	ensembl	human	known	54_36p	missense	SNP	0.994	A
FAM214A	56204	genome.wustl.edu	37	15	52902203	52902203	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr15:52902203C>T	ENST00000261844.7	-	6	1060	c.908G>A	c.(907-909)gGc>gAc	p.G303D	FAM214A_ENST00000546305.2_Missense_Mutation_p.G310D	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	303																	ACTGCCAGTGCCTGGATATAG	0.393																																																0			15											68.0	57.0	61.0					15																	52902203		1850	4090	5940	50689495	SO:0001583	missense	56204			AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.908G>A	15.37:g.52902203C>T	ENSP00000261844:p.Gly303Asp		50689495	A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	NULL	p.G303D	ENST00000261844.7	37	c.908	CCDS45263.1	15	.	.	.	.	.	.	.	.	.	.	C	7.518	0.656083	0.14580	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	T;T	0.30182	1.54;1.54	5.19	2.02	0.26589	.	0.660762	0.16048	N	0.232087	T	0.17789	0.0427	L	0.31294	0.92	0.09310	N	1	B;B	0.15473	0.013;0.007	B;B	0.18561	0.022;0.01	T	0.12863	-1.0531	10	0.25751	T	0.34	-1.6927	4.0435	0.09761	0.1254:0.4188:0.3631:0.0928	.	310;303	F5H8G0;Q32MH5	.;K1370_HUMAN	D	303;303;302;310	ENSP00000261844:G303D;ENSP00000443598:G310D	ENSP00000261844:G303D	G	-	2	0	KIAA1370	50689495	0.000000	0.05858	0.248000	0.24265	0.662000	0.39071	0.269000	0.18589	1.265000	0.44215	0.655000	0.94253	GGC	-	NULL		0.393	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1370	protein_coding	OTTHUMT00000419914.1	C	NM_019600		50689495	-1	no_errors	NM_019600	genbank	human	validated	54_36p	missense	SNP	0.223	T
MTMR4	9110	genome.wustl.edu	37	17	56581490	56581490	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr17:56581490C>T	ENST00000323456.5	-	14	1701	c.1577G>A	c.(1576-1578)cGg>cAg	p.R526Q	MTMR4_ENST00000579925.1_Intron	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	526	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGAGCAGGTCCGCTTGTAGAT	0.522																																																0			17											123.0	119.0	120.0					17																	56581490		2203	4300	6503	53936489	SO:0001583	missense	9110			AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.1577G>A	17.37:g.56581490C>T	ENSP00000325285:p.Arg526Gln		53936489	D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	superfamily_PH domain-like,superfamily_(Phosphotyrosine protein) phosphatases II,HMMPfam_Myotub-related,PatternScan_TYR_PHOSPHATASE_1,HMMSmart_SM00064,HMMPfam_FYVE,superfamily_FYVE/PHD zinc finger	p.R526Q	ENST00000323456.5	37	c.1577	CCDS11608.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.675684	0.96764	.	.	ENSG00000108389	ENST00000323456	D	0.90676	-2.71	5.81	5.81	0.92471	Myotubularin phosphatase domain (1);	0.958484	0.08632	N	0.916808	D	0.95822	0.8640	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.92798	0.6254	10	0.87932	D	0	.	19.0679	0.93119	0.0:1.0:0.0:0.0	.	526	Q9NYA4	MTMR4_HUMAN	Q	526	ENSP00000325285:R526Q	ENSP00000325285:R526Q	R	-	2	0	MTMR4	53936489	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	7.445000	0.80570	2.752000	0.94435	0.467000	0.42956	CGG	-	superfamily_(Phosphotyrosine protein) phosphatases II		0.522	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR4	protein_coding	OTTHUMT00000444721.1	C	NM_004687		53936489	-1	no_errors	NM_004687	genbank	human	validated	54_36p	missense	SNP	1.000	T
FIP1L1	81608	genome.wustl.edu	37	4	54256744	54256744	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr4:54256744C>G	ENST00000337488.6	+	7	648	c.454C>G	c.(454-456)Ctc>Gtc	p.L152V	FIP1L1_ENST00000507922.1_Missense_Mutation_p.L137V|FIP1L1_ENST00000306932.6_Missense_Mutation_p.L137V|FIP1L1_ENST00000507166.1_Missense_Mutation_p.L152V|FIP1L1_ENST00000358575.5_Missense_Mutation_p.L137V	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	152	Necessary for stimulating PAPOLA activity.|Sufficient for interaction with CPSF4.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TGGAGTTCCACTCTTAGAGGT	0.343			T	PDGFRA	idiopathic hypereosinophilic syndrome																																		Dom	yes		4	4q12	81608	FIP1 like 1 (S. cerevisiae)		L	0			4											117.0	117.0	117.0					4																	54256744		2203	4300	6503	53951501	SO:0001583	missense	81608			AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"""FIP1 like 1 (S. cerevisiae)"", ""FIP1L1 cleavage and polyadenylation specific factor subunit"""			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.454C>G	4.37:g.54256744C>G	ENSP00000336752:p.Leu152Val		53951501	B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Missense_Mutation	SNP	HMMPfam_Fip1	p.L152V	ENST00000337488.6	37	c.454	CCDS3491.1	4	.	.	.	.	.	.	.	.	.	.	C	12.11	1.838769	0.32513	.	.	ENSG00000145216	ENST00000337488;ENST00000358575;ENST00000507922;ENST00000306932;ENST00000507166	T	0.77358	-1.09	5.43	4.58	0.56647	.	0.000000	0.64402	D	0.000016	T	0.74959	0.3785	N	0.11313	0.125	0.51012	D	0.999908	B;D;B;P	0.56035	0.137;0.974;0.022;0.504	B;D;B;B	0.70487	0.135;0.969;0.082;0.116	T	0.72004	-0.4421	10	0.20046	T	0.44	-8.3365	14.5554	0.68097	0.0:0.9278:0.0:0.0722	.	137;137;152;137	G3XAD6;Q6UN15-3;Q6UN15;Q6UN15-4	.;.;FIP1_HUMAN;.	V	152;137;137;137;152	ENSP00000423325:L152V	ENSP00000302993:L137V	L	+	1	0	FIP1L1	53951501	1.000000	0.71417	0.987000	0.45799	0.874000	0.50279	3.928000	0.56506	2.534000	0.85438	0.591000	0.81541	CTC	-	NULL		0.343	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	FIP1L1	protein_coding	OTTHUMT00000250602.1	C	NM_030917		53951501	+1	no_errors	NM_030917	genbank	human	reviewed	54_36p	missense	SNP	0.998	G
LHB	3972	genome.wustl.edu	37	19	49519472	49519472	+	Silent	SNP	C	C	T	rs377599735		TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr19:49519472C>T	ENST00000221421.2	-	3	278	c.279G>A	c.(277-279)ccG>ccA	p.P93P	CTB-60B18.10_ENST00000600007.1_lincRNA	NM_000894.2	NP_000885.1	P01229	LSHB_HUMAN	luteinizing hormone beta polypeptide	93					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|male gonad development (GO:0008584)|peptide hormone processing (GO:0016486)|progesterone biosynthetic process (GO:0006701)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		CCACACCACGCGGGCAGCCAG	0.682																																																0			19											74.0	74.0	74.0					19																	49519472		2203	4300	6503	54211284	SO:0001819	synonymous_variant	3972				CCDS12748.1	19q13.3	2013-02-26				ENSG00000104826		"""Endogenous ligands"""	6584	protein-coding gene	gene with protein product	"""lutropin, beta chain"", ""interstitial cell stimulating hormone, beta chain"", ""luteinizing hormone beta subunit"""	152780				1191677	Standard	NM_000894		Approved	LSH-B, CGB4, hLHB	uc002plt.3	P01229		ENST00000221421.2:c.279G>A	19.37:g.49519472C>T			54211284	Q9UDI0	Silent	SNP	HMMSmart_GHB,HMMPfam_Cys_knot,superfamily_SSF57501,PatternScan_GLYCO_HORMONE_BETA_1,PatternScan_GLYCO_HORMONE_BETA_2	p.P93	ENST00000221421.2	37	c.279	CCDS12748.1	19																																																																																			-	HMMSmart_GHB,HMMPfam_Cys_knot,superfamily_SSF57501		0.682	LHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHB	protein_coding	OTTHUMT00000466246.1	C	NM_000894		54211284	-1	no_errors	NM_000894	genbank	human	reviewed	54_36p	silent	SNP	0.481	T
TMEM61	199964	genome.wustl.edu	37	1	55451905	55451905	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr1:55451905G>T	ENST00000371268.3	+	2	425	c.151G>T	c.(151-153)Gcc>Tcc	p.A51S	RP11-12C17.2_ENST00000436960.1_RNA	NM_182532.1	NP_872338.1	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	51						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						TGGCCAGCTGGCCCCACCCAC	0.667																																																0			1											45.0	47.0	46.0					1																	55451905		2203	4299	6502	55224493	SO:0001583	missense	199964			BC029775	CCDS601.1	1p32.3	2008-02-05			ENSG00000143001	ENSG00000143001			27296	protein-coding gene	gene with protein product						12477932	Standard	NM_182532		Approved		uc001cyd.3	Q8N0U2	OTTHUMG00000009991	ENST00000371268.3:c.151G>T	1.37:g.55451905G>T	ENSP00000360315:p.Ala51Ser		55224493		Missense_Mutation	SNP	NULL	p.A51S	ENST00000371268.3	37	c.151	CCDS601.1	1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.245149	0.39697	.	.	ENSG00000143001	ENST00000371268	T	0.56776	0.44	4.8	2.86	0.33363	.	0.566602	0.15785	N	0.244747	T	0.53769	0.1817	L	0.29908	0.895	0.09310	N	1	D	0.60160	0.987	P	0.61477	0.889	T	0.36866	-0.9730	10	0.46703	T	0.11	-14.389	8.9409	0.35729	0.0823:0.1474:0.7704:0.0	.	51	Q8N0U2	TMM61_HUMAN	S	51	ENSP00000360315:A51S	ENSP00000360315:A51S	A	+	1	0	TMEM61	55224493	0.000000	0.05858	0.040000	0.18447	0.047000	0.14425	0.326000	0.19646	1.209000	0.43321	0.655000	0.94253	GCC	-	NULL		0.667	TMEM61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM61	protein_coding	OTTHUMT00000027683.1	G	NM_182532		55224493	+1	no_errors	NM_182532	genbank	human	provisional	54_36p	missense	SNP	0.013	T
KLK3	354	genome.wustl.edu	37	19	51361528	51361528	+	Silent	SNP	C	C	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr19:51361528C>A	ENST00000326003.2	+	3	491	c.450C>A	c.(448-450)acC>acA	p.T150T	KLK3_ENST00000593997.1_Silent_p.T150T|KLK3_ENST00000360617.3_Silent_p.T150T|KLK3_ENST00000595952.1_Silent_p.T107T|KLK3_ENST00000597483.1_Silent_p.T107T	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3	150	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular protein metabolic process (GO:0044267)|negative regulation of angiogenesis (GO:0016525)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		CACTGGGGACCACCTGCTACG	0.657																																					Colon(185;1767 2023 13025 30120 37630)											0			19											57.0	54.0	55.0					19																	51361528		2203	4300	6503	56053340	SO:0001819	synonymous_variant	354			X14810	CCDS12807.1, CCDS33083.1, CCDS46155.1	19q13.41	2012-10-02	2006-10-27			ENSG00000142515		"""Kallikreins"""	6364	protein-coding gene	gene with protein product		176820	"""kallikrein 3, (prostate specific antigen)"""	APS		2456523, 2436946, 16800724, 16800723	Standard	NM_001648		Approved	PSA	uc021uyi.1	P07288		ENST00000326003.2:c.450C>A	19.37:g.51361528C>A			56053340	C9JXH3|G3V0H4|G3XAE3|Q15096|Q16272|Q86TG8|Q8IXI4	Silent	SNP	superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER	p.T150	ENST00000326003.2	37	c.450	CCDS12807.1	19																																																																																			-	superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin		0.657	KLK3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK3	protein_coding	OTTHUMT00000464067.1	C	NM_145864		56053340	+1	no_errors	NM_001648	genbank	human	reviewed	54_36p	silent	SNP	0.012	A
ZNF160	90338	genome.wustl.edu	37	19	53572425	53572425	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr19:53572425C>G	ENST00000429604.1	-	7	1777	c.1362G>C	c.(1360-1362)aaG>aaC	p.K454N	ZNF160_ENST00000599056.1_Missense_Mutation_p.K454N|ZNF160_ENST00000601421.1_Missense_Mutation_p.K418N|ZNF160_ENST00000418871.1_Missense_Mutation_p.K454N	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	454					hemopoiesis (GO:0030097)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		ATTCATTACACTTGTAAGGTT	0.403																																																0			19											154.0	153.0	153.0					19																	53572425		2203	4300	6503	58264237	SO:0001583	missense	90338			X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"""Zinc fingers, C2H2-type"", ""-"""	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.1362G>C	19.37:g.53572425C>G	ENSP00000406201:p.Lys454Asn		58264237	Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	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.K454N	ENST00000429604.1	37	c.1362	CCDS12859.1	19	.	.	.	.	.	.	.	.	.	.	C	8.085	0.773348	0.16051	.	.	ENSG00000170949	ENST00000429604;ENST00000418871	T;T	0.20200	2.09;2.09	2.47	-1.3	0.09259	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32556	0.0833	M	0.74881	2.28	0.41266	D	0.98681	D	0.67145	0.996	P	0.58520	0.84	T	0.21895	-1.0232	9	0.66056	D	0.02	.	4.2222	0.10563	0.0:0.2624:0.1757:0.5619	.	454	Q9HCG1	ZN160_HUMAN	N	454	ENSP00000406201:K454N;ENSP00000409597:K454N	ENSP00000409597:K454N	K	-	3	2	ZNF160	58264237	0.000000	0.05858	0.001000	0.08648	0.296000	0.27459	-2.191000	0.01246	-0.541000	0.06257	-0.258000	0.10820	AAG	-	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355		0.403	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF160	protein_coding	OTTHUMT00000463994.2	C	NM_033288		58264237	-1	no_errors	NM_001102603	genbank	human	reviewed	54_36p	missense	SNP	0.007	G
TLN2	83660	genome.wustl.edu	37	15	63111733	63111733	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr15:63111733C>G	ENST00000561311.1	+	52	7020	c.6790C>G	c.(6790-6792)Cca>Gca	p.P2264A	TLN2_ENST00000306829.6_Missense_Mutation_p.P2264A			Q9Y4G6	TLN2_HUMAN	talin 2	2264					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GAAACCAACCCCAGAATTCAA	0.547																																																0			15											88.0	90.0	90.0					15																	63111733		2203	4300	6503	60898786	SO:0001583	missense	83660			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.6790C>G	15.37:g.63111733C>G	ENSP00000453508:p.Pro2264Ala		60898786	A6NLB8	Missense_Mutation	SNP	PatternScan_FERM_1,HMMSmart_B41,HMMPfam_FERM_N,superfamily_FERM_3-hlx,HMMPfam_FERM_M,PatternScan_FERM_2,superfamily_SSF50729,superfamily_Talin_cent,HMMPfam_Talin_middle,superfamily_SSF109885,HMMPfam_VBS,HMMSmart_ILWEQ,HMMPfam_I_LWEQ	p.P2264A	ENST00000561311.1	37	c.6790	CCDS32261.1	15	.	.	.	.	.	.	.	.	.	.	C	11.05	1.526048	0.27299	.	.	ENSG00000171914	ENST00000306829	T	0.66815	-0.23	5.51	5.51	0.81932	.	0.293649	0.38111	N	0.001815	T	0.43322	0.1242	N	0.03071	-0.42	0.38651	D	0.951855	B	0.02656	0.0	B	0.01281	0.0	T	0.45498	-0.9257	10	0.09590	T	0.72	-12.7704	19.451	0.94867	0.0:1.0:0.0:0.0	.	2264	Q9Y4G6	TLN2_HUMAN	A	2264	ENSP00000303476:P2264A	ENSP00000303476:P2264A	P	+	1	0	TLN2	60898786	0.980000	0.34600	0.996000	0.52242	0.992000	0.81027	2.929000	0.48916	2.593000	0.87608	0.655000	0.94253	CCA	-	NULL		0.547	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN2	protein_coding	OTTHUMT00000257878.2	C			60898786	+1	no_errors	NM_015059	genbank	human	reviewed	54_36p	missense	SNP	0.997	G
ANK3	288	genome.wustl.edu	37	10	61868621	61868621	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr10:61868621A>C	ENST00000280772.2	-	27	3331	c.3140T>G	c.(3139-3141)gTa>gGa	p.V1047G	ANK3_ENST00000373827.2_Missense_Mutation_p.V1041G|ANK3_ENST00000503366.1_Missense_Mutation_p.V1048G|ANK3_ENST00000355288.2_Missense_Mutation_p.V181G	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1047	ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ACCCATTTCTACCAGCCTACT	0.478																																																0			10											65.0	71.0	69.0					10																	61868621		2203	4300	6503	61538627	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.3140T>G	10.37:g.61868621A>C	ENSP00000280772:p.Val1047Gly		61538627	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	superfamily_ANK,HMMPfam_Ank,HMMSmart_ANK,HMMPfam_ZU5,HMMSmart_ZU5,superfamily_DEATH_like,HMMSmart_DEATH,HMMPfam_Death	p.V1047G	ENST00000280772.2	37	c.3140	CCDS7258.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.8|23.8	4.464676|4.464676	0.84425|0.84425	.|.	.|.	ENSG00000151150|ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000544789;ENST00000536348;ENST00000373815|ENST00000467420	T;T;T;T;T|.	0.58797|.	0.31;0.31;0.31;0.31;0.31|.	6.04|6.04	6.04|6.04	0.98038|0.98038	ZU5 (3);|.	0.000000|.	0.38058|.	N|.	0.001838|.	T|.	0.58552|.	0.2130|.	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	P;D;D;D;D;D;D|.	0.89917|.	0.862;0.999;0.998;0.997;1.0;0.993;0.999|.	P;D;D;D;D;D;D|.	0.74023|.	0.794;0.98;0.91;0.952;0.982;0.935;0.929|.	T|.	0.54289|.	-0.8316|.	10|.	0.87932|.	D|.	0|.	.|.	16.5885|16.5885	0.84745|0.84745	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1048;181;580;1041;1047;282;181|.	E9PE32;A8KA62;Q59G01;Q5CZH9;Q12955;F5GXK0;B1AQT2|.	.;.;.;.;ANK3_HUMAN;.;.|.	G|E	1047;1041;181;181;1048;1027;282;682;682;180;580;172|72	ENSP00000280772:V1047G;ENSP00000362933:V1041G;ENSP00000347436:V181G;ENSP00000425236:V1048G;ENSP00000362921:V172G|.	ENSP00000280772:V1047G|.	V|X	-|-	2|1	0|0	ANK3|ANK3	61538627|61538627	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.339000|9.339000	0.96797|0.96797	2.317000|2.317000	0.78254|0.78254	0.460000|0.460000	0.39030|0.39030	GTA|TAG	-	HMMPfam_ZU5,HMMSmart_ZU5		0.478	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	protein_coding	OTTHUMT00000048201.4	A	NM_020987		61538627	-1	no_errors	NM_020987	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
DOCK7	85440	genome.wustl.edu	37	1	63119790	63119790	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr1:63119790T>A	ENST00000340370.5	-	3	202	c.185A>T	c.(184-186)gAt>gTt	p.D62V	DOCK7_ENST00000251157.5_Missense_Mutation_p.D62V|DOCK7_ENST00000404627.2_Missense_Mutation_p.D62V	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	62					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						AATGAGGTAATCTTCCAAATC	0.403																																																0			1											64.0	62.0	63.0					1																	63119790		2203	4300	6503	62892378	SO:0001583	missense	85440				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.185A>T	1.37:g.63119790T>A	ENSP00000340742:p.Asp62Val		62892378	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	HMMPfam_Ded_cyto	p.D62V	ENST00000340370.5	37	c.185	CCDS30734.1	1	.	.	.	.	.	.	.	.	.	.	T	18.74	3.688378	0.68271	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000404627	T;T;T	0.20598	2.47;2.47;2.06	5.16	5.16	0.70880	.	0.315976	0.37955	N	0.001872	T	0.20536	0.0494	L	0.50333	1.59	0.80722	D	1	P;P;B	0.41710	0.76;0.71;0.403	B;P;P	0.48488	0.347;0.579;0.579	T	0.01071	-1.1461	10	0.62326	D	0.03	.	15.1374	0.72579	0.0:0.0:0.0:1.0	.	62;62;62	Q96NI0;Q96N67-2;Q96N67-5	.;.;.	V	62	ENSP00000251157:D62V;ENSP00000340742:D62V;ENSP00000384446:D62V	ENSP00000251157:D62V	D	-	2	0	DOCK7	62892378	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.460000	0.80816	2.162000	0.67917	0.533000	0.62120	GAT	-	NULL		0.403	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK7	protein_coding	OTTHUMT00000036806.1	T	NM_033407		62892378	-1	no_errors	NM_033407	genbank	human	validated	54_36p	missense	SNP	1.000	A
SGPP1	81537	genome.wustl.edu	37	14	64153098	64153098	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr14:64153098G>A	ENST00000247225.6	-	3	1145	c.1051C>T	c.(1051-1053)Cct>Tct	p.P351S		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	351					extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway (GO:0097193)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate metabolic process (GO:0006668)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	sphingosine-1-phosphate phosphatase activity (GO:0042392)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		CCAGCTAAAGGTAATGTATCT	0.413																																																0			14											87.0	80.0	82.0					14																	64153098		2203	4300	6503	63222851	SO:0001583	missense	81537			AJ293294	CCDS9760.1	14q23.1	2003-09-17			ENSG00000126821	ENSG00000126821			17720	protein-coding gene	gene with protein product		612826				10859351	Standard	NM_030791		Approved		uc001xgj.3	Q9BX95	OTTHUMG00000029080	ENST00000247225.6:c.1051C>T	14.37:g.64153098G>A	ENSP00000247225:p.Pro351Ser		63222851	B2RAH0|Q9H189	Missense_Mutation	SNP	superfamily_Acid phosphatase/Vanadium-dependent haloperoxidase,HMMPfam_PAP2,HMMSmart_SM00014	p.P351S	ENST00000247225.6	37	c.1051	CCDS9760.1	14	.	.	.	.	.	.	.	.	.	.	G	15.19	2.759205	0.49468	.	.	ENSG00000126821	ENST00000247225	.	.	.	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.80088	0.4559	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75676	-0.3235	9	0.33141	T	0.24	-25.5976	20.4748	0.99174	0.0:0.0:1.0:0.0	.	351	Q9BX95	SGPP1_HUMAN	S	351	.	ENSP00000247225:P351S	P	-	1	0	SGPP1	63222851	1.000000	0.71417	0.971000	0.41717	0.136000	0.21042	9.091000	0.94151	2.843000	0.97960	0.655000	0.94253	CCT	-	NULL		0.413	SGPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGPP1	protein_coding	OTTHUMT00000072626.3	G	NM_030791		63222851	-1	no_errors	NM_030791	genbank	human	provisional	54_36p	missense	SNP	1.000	A
C17orf58	284018	genome.wustl.edu	37	17	65989222	65989222	+	Missense_Mutation	SNP	C	C	T	rs111513651		TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr17:65989222C>T	ENST00000449250.2	-	2	230	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	C17orf58_ENST00000334461.7_Missense_Mutation_p.R14Q|C17orf58_ENST00000536693.1_Missense_Mutation_p.R14Q|RP11-855A2.5_ENST00000580729.1_lincRNA			Q2M2W7	CQ058_HUMAN	chromosome 17 open reading frame 58	14										lung(2)	2	all_cancers(12;4.57e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			CATGTGGACTCGGAAGAAGAA	0.567																																																0			17											61.0	65.0	64.0					17																	65989222		1933	4121	6054	63419684	SO:0001583	missense	284018			AK026583	CCDS42375.1, CCDS45765.1	17q24.2	2012-10-11			ENSG00000186665	ENSG00000186665			27568	protein-coding gene	gene with protein product						12477932	Standard	NM_181656		Approved		uc002jgi.4	Q2M2W7	OTTHUMG00000179782	ENST00000449250.2:c.41G>A	17.37:g.65989222C>T	ENSP00000402020:p.Arg14Gln		63419684	A8MQV2	Missense_Mutation	SNP	superfamily_TIMP-like	p.R14Q	ENST00000449250.2	37	c.41	CCDS45765.1	17	.	.	.	.	.	.	.	.	.	.	C	19.26	3.793283	0.70452	.	.	ENSG00000186665	ENST00000449250;ENST00000334461;ENST00000536693	T	0.29917	1.55	4.62	4.62	0.57501	Tissue inhibitor of metalloproteinases-like, OB-fold (1);	0.094031	0.43919	D	0.000506	T	0.55401	0.1918	.	.	.	0.33369	D	0.573376	D;D	0.89917	1.0;0.997	D;P	0.72338	0.977;0.853	T	0.70234	-0.4928	9	0.66056	D	0.02	-15.4958	15.6148	0.76756	0.0:1.0:0.0:0.0	.	14;14	Q2M2W7-2;Q2M2W7	.;CQ058_HUMAN	Q	14	ENSP00000402020:R14Q	ENSP00000334741:R14Q	R	-	2	0	C17orf58	63419684	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	4.786000	0.62425	2.123000	0.65237	0.542000	0.68232	CGA	-	superfamily_TIMP-like		0.567	C17orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf58	protein_coding	OTTHUMT00000448104.1	C	NM_181656		63419684	-1	no_errors	NM_181655	genbank	human	validated	54_36p	missense	SNP	1.000	T
PHF3	23469	genome.wustl.edu	37	6	64394645	64394645	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr6:64394645C>A	ENST00000262043.3	+	4	1362	c.1022C>A	c.(1021-1023)tCt>tAt	p.S341Y	PHF3_ENST00000509330.1_Missense_Mutation_p.S341Y|PHF3_ENST00000393387.1_Missense_Mutation_p.S341Y			Q92576	PHF3_HUMAN	PHD finger protein 3	341					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GACGCTGGATCTTCTGATATT	0.363																																					GBM(135;136 1820 29512 34071 46235)											0			6											64.0	66.0	65.0					6																	64394645		2203	4300	6503	64452604	SO:0001583	missense	23469			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.1022C>A	6.37:g.64394645C>A	ENSP00000262043:p.Ser341Tyr		64452604	A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_Elongation factor TFIIS domain 2,HMMPfam_TFIIS_M,HMMSmart_SM00510,HMMPfam_SPOC	p.S341Y	ENST00000262043.3	37	c.1022	CCDS4966.1	6	.	.	.	.	.	.	.	.	.	.	C	0.063	-1.218506	0.01542	.	.	ENSG00000118482	ENST00000506783;ENST00000481385;ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387	T;T;T;T;T;T	0.46819	2.13;1.85;2.18;1.85;0.86;2.18	5.12	4.23	0.50019	.	0.000000	0.37136	N	0.002233	T	0.33352	0.0860	L	0.57536	1.79	0.09310	N	1	P;P	0.50528	0.79;0.936	B;P	0.48141	0.365;0.568	T	0.18745	-1.0327	10	0.72032	D	0.01	-9.6733	8.2791	0.31889	0.3076:0.5651:0.1273:0.0	.	341;341	Q92576;D6R9X2	PHF3_HUMAN;.	Y	155;253;341;294;341;341	ENSP00000424694:S155Y;ENSP00000425227:S253Y;ENSP00000262043:S341Y;ENSP00000424078:S294Y;ENSP00000422841:S341Y;ENSP00000377048:S341Y	ENSP00000262043:S341Y	S	+	2	0	PHF3	64452604	0.021000	0.18746	0.341000	0.25589	0.034000	0.12701	1.368000	0.34216	1.339000	0.45563	0.585000	0.79938	TCT	-	NULL		0.363	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF3	protein_coding	OTTHUMT00000041086.2	C			64452604	+1	no_errors	NM_015153	genbank	human	provisional	54_36p	missense	SNP	0.002	A
SPTBN2	6712	genome.wustl.edu	37	11	66460547	66460547	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr11:66460547C>A	ENST00000533211.1	-	25	5210	c.4879G>T	c.(4879-4881)Gtg>Ttg	p.V1627L	SPTBN2_ENST00000529997.1_Missense_Mutation_p.V1627L|SPTBN2_ENST00000309996.2_Missense_Mutation_p.V1627L			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1627					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TGCTTCTTCACCTCTGCCTGG	0.627																																																0			11											87.0	80.0	82.0					11																	66460547		2200	4295	6495	66217123	SO:0001583	missense	6712			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.4879G>T	11.37:g.66460547C>A	ENSP00000432568:p.Val1627Leu		66217123	O14872|O14873	Missense_Mutation	SNP	superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233	p.V1627L	ENST00000533211.1	37	c.4879	CCDS8150.1	11	.	.	.	.	.	.	.	.	.	.	C	9.634	1.137284	0.21123	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.23147	1.92;1.92;1.92	4.52	4.52	0.55395	.	0.070867	0.56097	D	0.000031	T	0.05318	0.0141	N	0.00217	-1.83	0.46874	D	0.999233	B	0.11235	0.004	B	0.10450	0.005	T	0.36625	-0.9740	10	0.02654	T	1	.	12.0996	0.53776	0.0:0.826:0.174:0.0	.	1627	O15020	SPTN2_HUMAN	L	1627	ENSP00000432568:V1627L;ENSP00000311489:V1627L;ENSP00000433593:V1627L	ENSP00000311489:V1627L	V	-	1	0	SPTBN2	66217123	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	0.389000	0.20751	2.356000	0.79943	0.462000	0.41574	GTG	-	superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150		0.627	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN2	protein_coding	OTTHUMT00000393892.2	C	NM_006946		66217123	-1	no_errors	NM_006946	genbank	human	validated	54_36p	missense	SNP	1.000	A
NIP7	51388	genome.wustl.edu	37	16	69375484	69375484	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr16:69375484C>T	ENST00000254940.5	+	5	872	c.472C>T	c.(472-474)Ccc>Tcc	p.P158S	COG8_ENST00000306875.4_5'Flank|RP11-343C2.7_ENST00000564737.1_Intron|NIP7_ENST00000254941.6_Missense_Mutation_p.P111S|RP11-343C2.9_ENST00000563634.1_Intron|COG8_ENST00000562081.1_5'Flank	NM_016101.4	NP_057185.1	Q9Y221	NIP7_HUMAN	NIP7, nucleolar pre-rRNA processing protein	158	C-terminal domain.|PUA. {ECO:0000255|PROSITE- ProRule:PRU00161}.				ribosome assembly (GO:0042255)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Ovarian(137;0.101)				AAAAGTAGACCCCATGGCGAT	0.463																																																0			16											121.0	120.0	120.0					16																	69375484		2198	4300	6498	67932985	SO:0001583	missense	51388			AB112439	CCDS10877.1, CCDS56003.1	16q22.1	2013-03-04	2013-03-04		ENSG00000132603	ENSG00000132603			24328	protein-coding gene	gene with protein product			"""nuclear import 7 homolog (S. cerevisiae)"""			14660641, 22195017	Standard	NM_016101		Approved	CGI-37, FLJ10296, HSPC031, KD93	uc002exa.3	Q9Y221	OTTHUMG00000137568	ENST00000254940.5:c.472C>T	16.37:g.69375484C>T	ENSP00000254940:p.Pro158Ser		67932985	B2RD04|Q9NZZ0	Missense_Mutation	SNP	superfamily_Pre-PUA domain,HMMSmart_SM00359,superfamily_PUA domain-like	p.P158S	ENST00000254940.5	37	c.472	CCDS10877.1	16	.	.	.	.	.	.	.	.	.	.	C	32	5.127556	0.94473	.	.	ENSG00000132603	ENST00000254940;ENST00000254941	.	.	.	5.44	5.44	0.79542	Pseudouridine synthase/archaeosine transglycosylase (2);PUA-like domain (1);	0.000000	0.85682	D	0.000000	D	0.82986	0.5156	M	0.90542	3.125	0.80722	D	1	D;P	0.53619	0.961;0.622	P;P	0.55391	0.775;0.498	D	0.86117	0.1566	9	0.66056	D	0.02	-17.3855	19.6311	0.95701	0.0:1.0:0.0:0.0	.	111;158	Q9Y221-2;Q9Y221	.;NIP7_HUMAN	S	158;111	.	ENSP00000254940:P158S	P	+	1	0	NIP7	67932985	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.710000	0.92621	0.561000	0.74099	CCC	-	HMMSmart_SM00359,superfamily_PUA domain-like		0.463	NIP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIP7	protein_coding	OTTHUMT00000268947.2	C	NM_016101		67932985	+1	no_errors	NM_016101	genbank	human	validated	54_36p	missense	SNP	1.000	T
IGHMBP2	3508	genome.wustl.edu	37	11	68703713	68703713	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr11:68703713G>A	ENST00000255078.3	+	13	1876	c.1765G>A	c.(1765-1767)Ggt>Agt	p.G589S	IGHMBP2_ENST00000541229.1_3'UTR	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	589					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AGGTGAAGTTGGTTTTCTTGC	0.532																																																0			11											119.0	114.0	116.0					11																	68703713		2200	4294	6494	68460289	SO:0001583	missense	3508			L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"""Zinc fingers, AN1-type domain containing"""	5542	protein-coding gene	gene with protein product	"""cardiac transcription factor 1"", ""zinc finger, AN1-type domain 7"""	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.1765G>A	11.37:g.68703713G>A	ENSP00000255078:p.Gly589Ser		68460289	A0PJD2|Q00443|Q14177	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMSmart_SM00382,HMMSmart_SM00393,superfamily_R3H domain,HMMPfam_R3H,HMMSmart_SM00154	p.G589S	ENST00000255078.3	37	c.1765	CCDS8187.1	11	.	.	.	.	.	.	.	.	.	.	G	29.9	5.043113	0.93685	.	.	ENSG00000132740	ENST00000255078	D	0.95918	-3.85	4.25	4.25	0.50352	.	0.055907	0.64402	D	0.000001	D	0.97904	0.9311	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98799	1.0739	10	0.87932	D	0	-16.2807	15.926	0.79618	0.0:0.0:1.0:0.0	.	589	P38935	SMBP2_HUMAN	S	589	ENSP00000255078:G589S	ENSP00000255078:G589S	G	+	1	0	IGHMBP2	68460289	1.000000	0.71417	0.712000	0.30502	0.840000	0.47671	8.953000	0.93041	2.360000	0.80028	0.561000	0.74099	GGT	-	superfamily_P-loop containing nucleoside triphosphate hydrolases		0.532	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGHMBP2	protein_coding	OTTHUMT00000396862.1	G	NM_002180		68460289	+1	no_errors	NM_002180	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
CTNNA3	29119	genome.wustl.edu	37	10	69281640	69281640	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr10:69281640T>A	ENST00000433211.2	-	5	713	c.539A>T	c.(538-540)gAg>gTg	p.E180V	CTNNA3_ENST00000545309.1_Missense_Mutation_p.E180V|CTNNA3_ENST00000373744.4_Missense_Mutation_p.E180V	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ATTTTCCAGCTCCTTCCCAAG	0.428																																																0			10											112.0	109.0	110.0					10																	69281640		2203	4300	6503	68951646	SO:0001583	missense	29119			AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.539A>T	10.37:g.69281640T>A	ENSP00000389714:p.Glu180Val		68951646		Missense_Mutation	SNP	HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin	p.E180V	ENST00000433211.2	37	c.539	CCDS7269.1	10	.	.	.	.	.	.	.	.	.	.	T	15.79	2.937090	0.52972	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000545309;ENST00000330298;ENST00000540598	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.19	5.19	0.71726	.	0.116119	0.37906	N	0.001886	T	0.50718	0.1632	L	0.49778	1.585	0.36878	D	0.889243	P;P;P;B	0.49783	0.834;0.928;0.523;0.438	P;P;B;B	0.49708	0.62;0.62;0.34;0.273	T	0.62534	-0.6834	10	0.87932	D	0	-8.8104	11.4391	0.50086	0.0:0.0:0.0:1.0	.	180;180;180;180	A8K141;F2Z2R0;Q9UI47-2;Q9UI47	.;.;.;CTNA3_HUMAN	V	180	ENSP00000389714:E180V;ENSP00000362849:E180V;ENSP00000441444:E180V;ENSP00000330570:E180V	ENSP00000330570:E180V	E	-	2	0	CTNNA3	68951646	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.719000	0.61937	1.967000	0.57214	0.383000	0.25322	GAG	-	HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin		0.428	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA3	protein_coding	OTTHUMT00000048282.2	T	NM_013266		68951646	-1	no_errors	NM_013266	genbank	human	validated	54_36p	missense	SNP	1.000	A
PTPRB	5787	genome.wustl.edu	37	12	70986253	70986253	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr12:70986253C>G	ENST00000261266.5	-	5	964	c.935G>C	c.(934-936)aGa>aCa	p.R312T	PTPRB_ENST00000550358.1_Missense_Mutation_p.R530T|PTPRB_ENST00000334414.6_Missense_Mutation_p.R530T|PTPRB_ENST00000451516.2_Missense_Mutation_p.R312T|PTPRB_ENST00000551525.1_Missense_Mutation_p.R529T|PTPRB_ENST00000538708.1_Missense_Mutation_p.R312T|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550857.1_Missense_Mutation_p.R312T	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	312	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TCCAGGAGGTCTTTGCCATTT	0.423																																																0			12											64.0	59.0	61.0					12																	70986253		1851	4102	5953	69272520	SO:0001583	missense	5787			X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.935G>C	12.37:g.70986253C>G	ENSP00000261266:p.Arg312Thr		69272520	B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	superfamily_Ricin B-like lectins,HMMPfam_Ricin_B_lectin,HMMSmart_SM00060,HMMPfam_fn3,superfamily_Fibronectin type III,superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1	p.R530T	ENST00000261266.5	37	c.1589	CCDS44944.1	12	.	.	.	.	.	.	.	.	.	.	C	15.46	2.841141	0.51057	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000544694;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44	5.96	4.61	0.57282	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.358864	0.36066	N	0.002810	T	0.55226	0.1907	M	0.62723	1.935	0.19945	N	0.999945	B;B;P;P;P;B;B;P	0.45768	0.249;0.249;0.755;0.866;0.57;0.249;0.293;0.523	B;B;P;P;B;B;B;B	0.51297	0.287;0.287;0.497;0.665;0.363;0.363;0.297;0.268	T	0.45600	-0.9250	10	0.12766	T	0.61	.	9.2659	0.37641	0.0:0.7987:0.0:0.2013	.	312;312;409;530;529;530;312;530	P23467-2;F5H3G6;Q6ZR19;Q6ZTX7;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;.;PTPRB_HUMAN;.	T	530;312;530;530;312;312;312;529;409	ENSP00000334928:R530T;ENSP00000393028:R312T;ENSP00000448058:R530T;ENSP00000438927:R312T;ENSP00000447302:R312T;ENSP00000261266:R312T;ENSP00000448349:R529T;ENSP00000446982:R409T	ENSP00000261266:R312T	R	-	2	0	PTPRB	69272520	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.649000	0.24843	1.032000	0.39892	0.655000	0.94253	AGA	-	superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3		0.423	PTPRB-007	KNOWN	basic|CCDS	protein_coding	PTPRB	protein_coding	OTTHUMT00000404439.1	C			69272520	-1	no_errors	NM_001109754	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
MYO9A	4649	genome.wustl.edu	37	15	72172833	72172833	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr15:72172833A>C	ENST00000356056.5	-	29	5937	c.5465T>G	c.(5464-5466)tTc>tGc	p.F1822C	MYO9A_ENST00000424560.1_Missense_Mutation_p.F1893C|MYO9A_ENST00000444904.1_Missense_Mutation_p.F1803C|MYO9A_ENST00000564571.1_Missense_Mutation_p.F1822C	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1822	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GTTCTCTTTGAATTCCTTCCG	0.458																																																0			15											101.0	98.0	99.0					15																	72172833		2199	4297	6496	69959887	SO:0001583	missense	4649			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.5465T>G	15.37:g.72172833A>C	ENSP00000348349:p.Phe1822Cys		69959887	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	HMMPfam_RA,HMMSmart_SM00314,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,HMMSmart_SM00015,HMMPfam_IQ,superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP	p.F1822C	ENST00000356056.5	37	c.5465	CCDS10239.1	15	.	.	.	.	.	.	.	.	.	.	A	13.10	2.135348	0.37728	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	D;D;D	0.84873	-1.88;-1.91;-1.87	5.54	3.12	0.35913	.	.	.	.	.	D	0.83036	0.5167	M	0.65975	2.015	0.34222	D	0.675542	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.001	T	0.80294	-0.1443	9	0.37606	T	0.19	.	13.5576	0.61768	0.4722:0.5278:0.0:0.0	.	1893;1822	B2RTY4-4;B2RTY4	.;MYO9A_HUMAN	C	1822;1893;1803	ENSP00000348349:F1822C;ENSP00000399162:F1893C;ENSP00000398250:F1803C	ENSP00000348349:F1822C	F	-	2	0	MYO9A	69959887	0.999000	0.42202	0.996000	0.52242	0.997000	0.91878	1.968000	0.40500	0.337000	0.23665	0.528000	0.53228	TTC	-	NULL		0.458	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO9A	protein_coding	OTTHUMT00000257308.1	A	NM_006901		69959887	-1	no_errors	NM_006901	genbank	human	validated	54_36p	missense	SNP	0.967	C
ZNF236	7776	genome.wustl.edu	37	18	74592166	74592166	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr18:74592166A>T	ENST00000253159.8	+	8	1274	c.1076A>T	c.(1075-1077)cAg>cTg	p.Q359L	ZNF236_ENST00000320610.9_Missense_Mutation_p.Q361L	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	359					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GACGTCATCCAGCAGCTCCTG	0.637																																																0			18											40.0	45.0	44.0					18																	74592166		2004	4157	6161	72721154	SO:0001583	missense	7776			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.1076A>T	18.37:g.74592166A>T	ENSP00000253159:p.Gln359Leu		72721154	B2RTX9|Q9UL37	Missense_Mutation	SNP	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1	p.Q359L	ENST00000253159.8	37	c.1076	CCDS42447.1	18	.	.	.	.	.	.	.	.	.	.	A	28.0	4.877822	0.91664	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.12879	2.64;2.81	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.35941	0.0949	M	0.69823	2.125	0.58432	D	0.999998	D;D	0.76494	0.999;0.993	D;D	0.72338	0.941;0.977	T	0.05903	-1.0857	10	0.40728	T	0.16	.	15.185	0.72993	1.0:0.0:0.0:0.0	.	359;359	Q9NWI2;Q9UL36	.;ZN236_HUMAN	L	359	ENSP00000253159:Q359L;ENSP00000444524:Q359L	ENSP00000253159:Q359L	Q	+	2	0	ZNF236	72721154	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	8.694000	0.91293	1.989000	0.58080	0.455000	0.32223	CAG	-	NULL		0.637	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF236	protein_coding	OTTHUMT00000445776.1	A			72721154	+1	no_errors	NM_007345	genbank	human	validated	54_36p	missense	SNP	1.000	T
TRPA1	8989	genome.wustl.edu	37	8	72958748	72958748	+	Splice_Site	SNP	G	G	A	rs541532801		TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr8:72958748G>A	ENST00000262209.4	-	17	2268	c.2061C>T	c.(2059-2061)aaC>aaT	p.N687N	RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	687					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.N687N(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TTGAACTTACGTTGAGGGCTG	0.294													A|||	1	0.000199681	0.0008	0.0	5008	,	,		14285	0.0		0.0	False		,,,				2504	0.0															2	Substitution - coding silent(2)	lung(1)|breast(1)	8											167.0	178.0	174.0					8																	72958748		2203	4299	6502	73121302	SO:0001630	splice_region_variant	8989			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2061+1C>T	8.37:g.72958748G>A			73121302	A6NIN6	Silent	SNP	superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,PatternScan_EF_HAND_1,HMMPfam_Ion_trans	p.N687	ENST00000262209.4	37	c.2061	CCDS34908.1	8																																																																																			-	NULL		0.294	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPA1	protein_coding	OTTHUMT00000379079.2	G	NM_007332	Silent	73121302	-1	no_errors	NM_007332	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
ERICH3	127254	genome.wustl.edu	37	1	75114977	75114977	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr1:75114977G>A	ENST00000326665.5	-	2	264	c.46C>T	c.(46-48)Ctt>Ttt	p.L16F		NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		16										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTATCCATAAGGCTATTATAT	0.363																																																0			1											95.0	95.0	95.0					1																	75114977		2203	4300	6503	74887565	SO:0001583	missense	127254																														ENST00000326665.5:c.46C>T	1.37:g.75114977G>A	ENSP00000322609:p.Leu16Phe		74887565	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	NULL	p.L16F	ENST00000326665.5	37	c.46	CCDS30755.1	1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.464841	0.63513	.	.	ENSG00000178965	ENST00000326665	T	0.46063	0.88	5.57	5.57	0.84162	.	.	.	.	.	T	0.58736	0.2143	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.61642	-0.7021	9	0.87932	D	0	-12.0121	18.3037	0.90172	0.0:0.0:1.0:0.0	.	16	Q5RHP9	CA173_HUMAN	F	16	ENSP00000322609:L16F	ENSP00000322609:L16F	L	-	1	0	C1orf173	74887565	1.000000	0.71417	0.997000	0.53966	0.464000	0.32679	6.639000	0.74314	2.622000	0.88805	0.591000	0.81541	CTT	-	NULL		0.363	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	protein_coding	OTTHUMT00000026516.1	G			74887565	-1	no_errors	NM_001002912	genbank	human	predicted	54_36p	missense	SNP	1.000	A
PMS2P3	5387	genome.wustl.edu	37	7	75145121	75145121	+	RNA	SNP	C	C	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr7:75145121C>T	ENST00000418756.1	-	0	777				Y_RNA_ENST00000364004.1_RNA	NR_028059.1		Q13401	PM2P3_HUMAN	postmeiotic segregation increased 2 pseudogene 3						mismatch repair (GO:0006298)|regulation of transcription, DNA-templated (GO:0006355)	mismatch repair complex (GO:0032300)	nucleic acid binding (GO:0003676)			lung(1)	1						ACCTCCACTCCATGATGATGT	0.443																																					NSCLC(70;602 1339 5301 18528 38453)											0			7											52.0	50.0	51.0					7																	75145121		2202	4280	6482	74983057			5387			D38437		7q11.23	2010-10-26	2010-10-26	2010-10-26	ENSG00000127957	ENSG00000127957			9128	pseudogene	pseudogene			"""postmeiotic segregation increased 2-like 3"", ""postmeiotic segregation increased 2-like 3, pseudogene"""	PMS2L9, PMS2L3		8586419	Standard	NR_028059		Approved	PMS5, PMSR3	uc022agi.1	Q13401	OTTHUMG00000156049		7.37:g.75145121C>T			74983057	A6NG70|Q3MJ29	Missense_Mutation	SNP	superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_ATP_bd_ATPase,HMMPfam_HATPase_c	p.G59R	ENST00000418756.1	37	c.175		7																																																																																			-	superfamily_Krueppel-associated_box,HMMSmart_KRAB		0.443	PMS2P3-002	KNOWN	basic	processed_transcript	PMS2L3	pseudogene	OTTHUMT00000342862.2	C	NR_028059		74983057	-1	no_errors	NM_005395	genbank	human	validated	54_36p	missense	SNP	0.088	T
SEC24C	9632	genome.wustl.edu	37	10	75511003	75511003	+	Splice_Site	SNP	T	T	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr10:75511003T>A	ENST00000339365.2	+	4	470		c.e4+2		SEC24C_ENST00000345254.4_Splice_Site|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Intron|SEC24C_ENST00000546025.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					GATGCAAAGGTAGGTACTTGG	0.532																																																0			10											63.0	50.0	55.0					10																	75511003		2203	4300	6503	75181009	SO:0001630	splice_region_variant	9632			D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.308+2T>A	10.37:g.75511003T>A			75181009	B4DZT4|Q8WV25	Splice_Site	SNP	-	e2+2	ENST00000339365.2	37	c.308+2	CCDS7332.1	10	.	.	.	.	.	.	.	.	.	.	T	21.4	4.149942	0.78001	.	.	ENSG00000176986	ENST00000345254;ENST00000339365	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6942	0.77481	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SEC24C	75181009	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	5.574000	0.67424	2.240000	0.73641	0.533000	0.62120	.	-	-		0.532	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC24C	protein_coding	OTTHUMT00000048679.1	T		Intron	75181009	+1	no_errors	NM_004922	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	A
CHCHD1	118487	genome.wustl.edu	37	10	75541896	75541896	+	Silent	SNP	G	G	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr10:75541896G>A	ENST00000372833.5	+	1	76	c.63G>A	c.(61-63)ctG>ctA	p.L21L	CHCHD1_ENST00000372837.3_Silent_p.L21L	NM_203298.2	NP_976043.1	Q96BP2	CHCH1_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 1	21						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)	1	Prostate(51;0.0112)					AGCCTGTGCTGAAGCCCAATA	0.677																																																0			10											41.0	50.0	47.0					10																	75541896		2203	4299	6502	75211902	SO:0001819	synonymous_variant	118487			AK098720	CCDS7334.1	10q22.3	2014-02-12	2004-01-19		ENSG00000172586	ENSG00000172586		"""Coiled-coil-helix-coiled-coil-helix domain containing"""	23518	protein-coding gene	gene with protein product		608842	"""chromosome 10 open reading frame 34"""	C10orf34			Standard	NM_203298		Approved	FLJ25854	uc001jvc.4	Q96BP2	OTTHUMG00000018475	ENST00000372833.5:c.63G>A	10.37:g.75541896G>A			75211902		Silent	SNP	HMMPfam_Coil_helix	p.L21	ENST00000372833.5	37	c.63	CCDS7334.1	10																																																																																			-	HMMPfam_Coil_helix		0.677	CHCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHCHD1	protein_coding	OTTHUMT00000048676.1	G	XM_058325		75211902	+1	no_errors	NM_203298	genbank	human	validated	54_36p	silent	SNP	0.998	A
ADAMTS7	11173	genome.wustl.edu	37	15	79051801	79051801	+	Missense_Mutation	SNP	C	C	A	rs201472223		TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr15:79051801C>A	ENST00000388820.4	-	24	5233	c.5023G>T	c.(5023-5025)Gcc>Tcc	p.A1675S		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1675					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CGGGAGGGGGCGCCGTGGCTG	0.721																																																0			15											7.0	9.0	9.0					15																	79051801		2082	4133	6215	76838856	SO:0001583	missense	11173			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.5023G>T	15.37:g.79051801C>A	ENSP00000373472:p.Ala1675Ser		76838856	Q14F51|Q6P7J9	Missense_Mutation	SNP	"HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1"	p.A1675S	ENST00000388820.4	37	c.5023	CCDS32303.1	15	.	.	.	.	.	.	.	.	.	.	c	1.406	-0.576936	0.03854	.	.	ENSG00000136378	ENST00000388820	T	0.59502	0.26	2.92	0.947	0.19555	.	2.418420	0.02155	U	0.058341	T	0.39627	0.1085	N	0.19112	0.55	0.09310	N	1	B	0.25007	0.116	B	0.23150	0.044	T	0.16600	-1.0397	10	0.09590	T	0.72	.	6.0212	0.19630	0.0:0.7622:0.0:0.2378	.	1675	Q9UKP4	ATS7_HUMAN	S	1675	ENSP00000373472:A1675S	ENSP00000373472:A1675S	A	-	1	0	ADAMTS7	76838856	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.624000	0.24462	0.111000	0.17947	-2.153000	0.00332	GCC	-	NULL		0.721	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS7	protein_coding	OTTHUMT00000421331.1	C	NM_014272		76838856	-1	no_errors	NM_014272	genbank	human	reviewed	54_36p	missense	SNP	0.002	A
RASGRF1	5923	genome.wustl.edu	37	15	79341918	79341918	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr15:79341918G>A	ENST00000419573.3	-	4	818	c.544C>T	c.(544-546)Ctc>Ttc	p.L182F	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.L182F	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	182					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TTGTCCTTGAGCAGGGATGTG	0.582																																																0			15											113.0	88.0	97.0					15																	79341918		2196	4293	6489	77128973	SO:0001583	missense	5923			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.544C>T	15.37:g.79341918G>A	ENSP00000405963:p.Leu182Phe		77128973	F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_IQ,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,PatternScan_DH_1,superfamily_Ras GEF,HMMSmart_SM00229,HMMPfam_RasGEF_N,HMMSmart_SM00147,HMMPfam_RasGEF,PatternScan_RASGEF	p.L182F	ENST00000419573.3	37	c.544	CCDS10309.1	15	.	.	.	.	.	.	.	.	.	.	G	15.30	2.792004	0.50102	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.44083	0.93	5.15	4.22	0.49857	.	0.691435	0.13542	N	0.380084	T	0.33673	0.0871	L	0.36672	1.1	0.80722	D	1	B;B;B;B	0.30793	0.295;0.295;0.19;0.288	B;B;B;B	0.34652	0.125;0.125;0.125;0.187	T	0.18871	-1.0323	10	0.51188	T	0.08	.	6.1171	0.20132	0.0934:0.0:0.7111:0.1955	.	182;182;182;182	A8K270;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	F	182	ENSP00000405963:L182F	ENSP00000378224:L182F	L	-	1	0	RASGRF1	77128973	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.404000	0.59735	1.323000	0.45263	0.655000	0.94253	CTC	-	NULL		0.582	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	RASGRF1	protein_coding	OTTHUMT00000291371.3	G	NM_002891		77128973	-1	no_errors	NM_002891	genbank	human	reviewed	54_36p	missense	SNP	0.990	A
IFI44L	10964	genome.wustl.edu	37	1	79093736	79093736	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr1:79093736C>T	ENST00000370751.5	+	2	315	c.136C>T	c.(136-138)Cgt>Tgt	p.R46C	IFI44L_ENST00000476521.1_Intron|IFI44L_ENST00000342282.3_Intron	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	46					defense response to virus (GO:0051607)|immune response (GO:0006955)	cytoplasm (GO:0005737)		p.R7C(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						AAGATGCAGCCGTCAGGGATG	0.363																																																1	Substitution - Missense(1)	large_intestine(1)	1											78.0	79.0	79.0					1																	79093736		2203	4300	6503	78866324	SO:0001583	missense	10964			AB000115	CCDS687.2	1p22.3	2008-07-18	2004-11-12	2004-11-12	ENSG00000137959	ENSG00000137959			17817	protein-coding gene	gene with protein product		613975	"""chromosome 1 open reading frame 29"""	C1orf29			Standard	NM_006820		Approved	GS3686	uc010oro.2	Q53G44	OTTHUMG00000009724	ENST00000370751.5:c.136C>T	1.37:g.79093736C>T	ENSP00000359787:p.Arg46Cys		78866324	Q86TE1|Q96B64|Q99984	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases	p.R7C	ENST00000370751.5	37	c.19	CCDS687.2	1	.	.	.	.	.	.	.	.	.	.	C	6.305	0.424379	0.11928	.	.	ENSG00000137959	ENST00000452835;ENST00000370751;ENST00000450498	T;T;T	0.32515	1.45;3.07;2.48	3.41	-6.83	0.01693	.	1.843670	0.03430	N	0.207711	T	0.02418	0.0074	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16512	-1.0400	10	0.35671	T	0.21	5.3548	0.8249	0.01118	0.4079:0.2237:0.113:0.2554	.	46	Q53G44	IF44L_HUMAN	C	46;46;23	ENSP00000409914:R46C;ENSP00000359787:R46C;ENSP00000400784:R23C	ENSP00000359787:R46C	R	+	1	0	IFI44L	78866324	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-4.650000	0.00203	-1.778000	0.01282	-0.718000	0.03613	CGT	-	NULL		0.363	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFI44L	protein_coding	OTTHUMT00000026834.3	C	NM_006820		78866324	+1	no_errors	NM_006820	genbank	human	validated	54_36p	missense	SNP	0.000	T
ANTXR2	118429	genome.wustl.edu	37	4	80940058	80940058	+	Silent	SNP	T	T	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr4:80940058T>A	ENST00000307333.7	-	11	941	c.939A>T	c.(937-939)acA>acT	p.T313T	ANTXR2_ENST00000403729.2_Silent_p.T313T|ANTXR2_ENST00000404191.1_Silent_p.T236T|ANTXR2_ENST00000346652.6_Intron	NM_001145794.1	NP_001139266.1	P58335	ANTR2_HUMAN	anthrax toxin receptor 2	313					reproductive process (GO:0022414)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						TTACACATTCTGTGGCTGTGA	0.308									Juvenile Hyaline Fibromatosis																																							0			4											65.0	57.0	60.0					4																	80940058		1795	4024	5819	81159082	SO:0001819	synonymous_variant	118429	Familial Cancer Database	incl. Infantile Systemic Hyalinosis	AY040326	CCDS47085.1, CCDS47086.1, CCDS68733.1	4q21.3	2004-01-15			ENSG00000163297	ENSG00000163297			21732	protein-coding gene	gene with protein product	"""capillary morphogenesis protein 2"""	608041				11683410, 12700348	Standard	NM_058172		Approved	CMG2, CMG-2, FLJ31074	uc003hlz.4	P58335	OTTHUMG00000151982	ENST00000307333.7:c.939A>T	4.37:g.80940058T>A			81159082	Q4W5H6|Q59E98|Q5JPE9|Q86UI1|Q8N4J8|Q8NB13|Q96NC7	Silent	SNP	superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMPfam_Anth_Ig,HMMPfam_Ant_C	p.T313	ENST00000307333.7	37	c.939	CCDS47086.1	4																																																																																			-	HMMPfam_Anth_Ig		0.308	ANTXR2-001	KNOWN	basic|CCDS	protein_coding	ANTXR2	protein_coding	OTTHUMT00000324663.1	T	NM_058172		81159082	-1	no_errors	NM_058172	genbank	human	reviewed	54_36p	silent	SNP	0.997	A
ANTXR2	118429	genome.wustl.edu	37	4	80993643	80993643	+	Silent	SNP	G	G	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr4:80993643G>A	ENST00000307333.7	-	1	74	c.72C>T	c.(70-72)ctC>ctT	p.L24L	ANTXR2_ENST00000403729.2_Silent_p.L24L|ANTXR2_ENST00000295465.4_Silent_p.L24L|ANTXR2_ENST00000404191.1_Intron|ANTXR2_ENST00000346652.6_Silent_p.L24L	NM_001145794.1	NP_001139266.1	P58335	ANTR2_HUMAN	anthrax toxin receptor 2	24					reproductive process (GO:0022414)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						CGGGACCGCTGAGCACCAACA	0.706									Juvenile Hyaline Fibromatosis																																							0			4											13.0	16.0	16.0					4																	80993643		1861	4065	5926	81212667	SO:0001819	synonymous_variant	118429	Familial Cancer Database	incl. Infantile Systemic Hyalinosis	AY040326	CCDS47085.1, CCDS47086.1, CCDS68733.1	4q21.3	2004-01-15			ENSG00000163297	ENSG00000163297			21732	protein-coding gene	gene with protein product	"""capillary morphogenesis protein 2"""	608041				11683410, 12700348	Standard	NM_058172		Approved	CMG2, CMG-2, FLJ31074	uc003hlz.4	P58335	OTTHUMG00000151982	ENST00000307333.7:c.72C>T	4.37:g.80993643G>A			81212667	Q4W5H6|Q59E98|Q5JPE9|Q86UI1|Q8N4J8|Q8NB13|Q96NC7	Silent	SNP	HMMPfam_VWA,HMMSmart_SM00327,HMMPfam_Ant_C,HMMPfam_Anth_Ig,superfamily_vWA-like	p.L24	ENST00000307333.7	37	c.72	CCDS47086.1	4																																																																																			-	NULL		0.706	ANTXR2-001	KNOWN	basic|CCDS	protein_coding	ANTXR2	protein_coding	OTTHUMT00000324663.1	G	NM_058172		81212667	-1	no_errors	NM_058172	genbank	human	reviewed	54_36p	silent	SNP	0.000	A
RPS23	6228	genome.wustl.edu	37	5	81574149	81574149	+	5'UTR	SNP	G	G	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr5:81574149G>A	ENST00000296674.8	-	0	247				RPS23_ENST00000510019.1_5'UTR|RPS23_ENST00000512493.1_5'UTR|RPS23_ENST00000507980.1_5'UTR|RPS23_ENST00000503605.1_5'Flank|RPS23_ENST00000511844.1_5'UTR|ATP6AP1L_ENST00000380167.4_5'Flank|RPS23_ENST00000510210.1_5'UTR	NM_001025.4	NP_001016.1	P62266	RS23_HUMAN	ribosomal protein S23						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|membrane (GO:0016020)|nucleolus (GO:0005730)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			prostate(1)	1		Lung NSC(167;0.0025)|all_lung(232;0.00278)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-42)|Epithelial(54;8.38e-37)|all cancers(79;1.42e-31)		CCATCCTGTCGGCGCCACGGG	0.687																																																0			5											14.0	17.0	16.0					5																	81574149		1985	4139	6124	81609905	SO:0001623	5_prime_UTR_variant	6228			AB007158	CCDS47241.1	5q14.2	2013-05-09			ENSG00000186468	ENSG00000186468		"""S ribosomal proteins"""	10410	protein-coding gene	gene with protein product		603683				9582194	Standard	NM_001025		Approved	S23	uc003khu.3	P62266	OTTHUMG00000162557	ENST00000296674.8:c.-7C>T	5.37:g.81574149G>A			81609905	P39028|Q6IB08	Silent	SNP	HMMPfam_Ribosomal_S12,superfamily_Nucleic acid-binding proteins,PatternScan_RIBOSOMAL_S12	p.A30	ENST00000296674.8	37	c.90	CCDS47241.1	5																																																																																			-	NULL		0.687	RPS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS23	protein_coding	OTTHUMT00000369546.2	G	NM_001025		81609905	-1	no_start_codon	ENST00000296674	ensembl	human	known	54_36p	silent	SNP	0.199	A
PRKG2	5593	genome.wustl.edu	37	4	82031736	82031736	+	Silent	SNP	C	C	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr4:82031736C>A	ENST00000395578.1	-	15	1922	c.1806G>T	c.(1804-1806)ggG>ggT	p.G602G	PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000264399.1_Silent_p.G602G|PRKG2_ENST00000418486.2_Silent_p.G573G|PRKG2_ENST00000545647.1_Silent_p.G182G			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	602	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TCTGTCCAGACCCTATTTTCT	0.423																																																0			4											120.0	118.0	119.0					4																	82031736		2203	4300	6503	82250760	SO:0001819	synonymous_variant	5593			X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.1806G>T	4.37:g.82031736C>A			82250760	B4DMX3|E7EPE6|O00125|O60916	Silent	SNP	superfamily_cNMP_binding,HMMSmart_cNMP,HMMPfam_cNMP_binding,PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_S_TK_X	p.G602	ENST00000395578.1	37	c.1806	CCDS3589.1	4																																																																																			-	superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase		0.423	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKG2	protein_coding	OTTHUMT00000252639.1	C	NM_006259		82250760	-1	no_errors	NM_006259	genbank	human	provisional	54_36p	silent	SNP	0.564	A
NTRK3	4916	genome.wustl.edu	37	15	88678625	88678625	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr15:88678625G>A	ENST00000360948.2	-	9	1072	c.911C>T	c.(910-912)cCc>cTc	p.P304L	NTRK3_ENST00000542733.2_Missense_Mutation_p.P206L|NTRK3_ENST00000357724.2_Missense_Mutation_p.P304L|NTRK3_ENST00000317501.3_Missense_Mutation_p.P304L|NTRK3_ENST00000558676.1_Missense_Mutation_p.P304L|NTRK3_ENST00000540489.2_Missense_Mutation_p.P304L|NTRK3_ENST00000557856.1_Missense_Mutation_p.P304L|NTRK3_ENST00000355254.2_Missense_Mutation_p.P304L|NTRK3_ENST00000394480.2_Missense_Mutation_p.P304L	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	304					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CACACGTGGGGGATCTGTCAA	0.597			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																													Dom	yes		15	15q25	4916	"""neurotrophic tyrosine kinase, receptor, type 3"""		"""E, M"""	0			15											24.0	26.0	25.0					15																	88678625		2201	4299	6500	86479629	SO:0001583	missense	4916			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.911C>T	15.37:g.88678625G>A	ENSP00000354207:p.Pro304Leu		86479629	B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	HMMPfam_LRRNT,HMMSmart_SM00013,superfamily_L domain-like,HMMPfam_LRR_1,HMMSmart_SM00082,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig,HMMPfam_I-set,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR,PatternScan_RECEPTOR_TYR_KIN_II	p.P304L	ENST00000360948.2	37	c.911	CCDS32322.1	15	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828418	0.71143	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000540489;ENST00000317501	T;T;T;T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73	5.28	5.28	0.74379	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.84768	0.5545	M	0.77820	2.39	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;0.999	D;D;D;D;D;D	0.91635	0.997;0.997;0.984;0.997;0.999;0.984	D	0.86711	0.1936	10	0.87932	D	0	.	17.9266	0.88985	0.0:0.0:1.0:0.0	.	206;304;304;304;304;304	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	L	304;304;304;304;206;304;304	ENSP00000377990:P304L;ENSP00000354207:P304L;ENSP00000350356:P304L;ENSP00000347397:P304L;ENSP00000437773:P206L;ENSP00000444673:P304L;ENSP00000318328:P304L	ENSP00000318328:P304L	P	-	2	0	NTRK3	86479629	1.000000	0.71417	0.999000	0.59377	0.362000	0.29581	8.965000	0.93393	2.454000	0.82982	0.563000	0.77884	CCC	-	superfamily_Immunoglobulin		0.597	NTRK3-204	KNOWN	basic|CCDS	protein_coding	NTRK3	protein_coding		G			86479629	-1	no_errors	NM_001012338	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
DCAF4L2	138009	genome.wustl.edu	37	8	88885117	88885117	+	Silent	SNP	G	G	A	rs141776325	byFrequency	TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr8:88885117G>A	ENST00000319675.3	-	1	1179	c.1083C>T	c.(1081-1083)aaC>aaT	p.N361N		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	361								p.N361N(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TGGGAATGTCGTTCTCCGAGG	0.622													G|||	6	0.00119808	0.0045	0.0	5008	,	,		16932	0.0		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	large_intestine(1)	8						G		13,4393	17.9+/-39.9	0,13,2190	74.0	81.0	79.0		1083	-2.8	0.0	8	dbSNP_134	79	0,8600		0,0,4300	no	coding-synonymous	DCAF4L2	NM_152418.3		0,13,6490	AA,AG,GG		0.0,0.2951,0.1		361/396	88885117	13,12993	2203	4300	6503	88954233	SO:0001819	synonymous_variant	138009			AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.1083C>T	8.37:g.88885117G>A			88954233		Silent	SNP	PatternScan_WD_REPEATS_1,superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40	p.N361	ENST00000319675.3	37	c.1083	CCDS6245.1	8																																																																																			-	superfamily_WD40_like		0.622	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR21C	protein_coding	OTTHUMT00000375302.1	G	NM_152418		88954233	-1	no_errors	NM_152418	genbank	human	validated	54_36p	silent	SNP	0.003	A
HSP90B3P	343477	genome.wustl.edu	37	1	92109236	92109236	+	IGR	SNP	A	A	G			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr1:92109236A>G								CDC7 (117915 upstream) : TGFBR3 (36665 downstream)																							AAGCACAAGCATACCAAACGA	0.473																																																0			1																																								91881824	SO:0001628	intergenic_variant	343477																															1.37:g.92109236A>G			91881824		Silent	SNP	HMMPfam_HSP90,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_SSF110942	p.A421		37	c.1263		1																																																																																			-	HMMPfam_HSP90,superfamily_SSF110942	0	0.473					HSP90B3P			A			91881824	+1	no_errors	ENST00000370405	ensembl	human	known	54_36p	silent	SNP	0.994	G
C1orf146	388649	genome.wustl.edu	37	1	92696994	92696994	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr1:92696994A>T	ENST00000370375.3	+	2	165	c.17A>T	c.(16-18)aAa>aTa	p.K6I	AL451010.1_ENST00000581900.1_RNA|C1orf146_ENST00000370373.2_De_novo_Start_OutOfFrame|ACTBP12_ENST00000594933.1_RNA	NM_001012425.1	NP_001012425.1	Q5VVC0	CA146_HUMAN	chromosome 1 open reading frame 146	6										breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8		all_lung(203;0.00528)|Lung NSC(277;0.0193)		all cancers(265;0.00846)|Epithelial(280;0.0952)		GAAAGTGGAAAAGAAAAAATA	0.343																																																0			1											63.0	66.0	65.0					1																	92696994		2203	4300	6503	92469582	SO:0001583	missense	388649				CCDS30772.1	1p22.1	2008-02-05			ENSG00000203910	ENSG00000203910			24032	protein-coding gene	gene with protein product						15496913	Standard	NM_001012425		Approved		uc001doq.3	Q5VVC0	OTTHUMG00000010285	ENST00000370375.3:c.17A>T	1.37:g.92696994A>T	ENSP00000359401:p.Lys6Ile		92469582	Q5VVC4	Missense_Mutation	SNP	NULL	p.K6I	ENST00000370375.3	37	c.17	CCDS30772.1	1	.	.	.	.	.	.	.	.	.	.	A	17.12	3.307041	0.60305	.	.	ENSG00000203910	ENST00000370375	.	.	.	5.0	5.0	0.66597	.	0.461691	0.23208	N	0.050710	T	0.31606	0.0802	N	0.24115	0.695	0.80722	D	1	P	0.39883	0.693	B	0.43018	0.405	T	0.37009	-0.9724	9	0.72032	D	0.01	-0.4082	12.4713	0.55790	1.0:0.0:0.0:0.0	.	6	Q5VVC0	CA146_HUMAN	I	6	.	ENSP00000359401:K6I	K	+	2	0	C1orf146	92469582	1.000000	0.71417	0.866000	0.34008	0.991000	0.79684	2.441000	0.44864	2.229000	0.72834	0.482000	0.46254	AAA	-	NULL		0.343	C1orf146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf146	protein_coding	OTTHUMT00000028364.1	A	NM_001012425		92469582	+1	no_errors	NM_001012425	genbank	human	validated	54_36p	missense	SNP	0.623	T
SAMD9L	219285	genome.wustl.edu	37	7	92762609	92762609	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr7:92762609C>T	ENST00000318238.4	-	5	3892	c.2676G>A	c.(2674-2676)atG>atA	p.M892I	SAMD9L_ENST00000411955.1_Missense_Mutation_p.M892I|SAMD9L_ENST00000437805.1_Missense_Mutation_p.M892I	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	892					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AATTGCTTTTCATGATCATGA	0.368																																																0			7											72.0	76.0	75.0					7																	92762609		2203	4299	6502	92600545	SO:0001583	missense	219285			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.2676G>A	7.37:g.92762609C>T	ENSP00000326247:p.Met892Ile		92600545	A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	superfamily_SAM/Pointed domain	p.M892I	ENST00000318238.4	37	c.2676	CCDS34681.1	7	.	.	.	.	.	.	.	.	.	.	C	14.51	2.558001	0.45590	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.38887	1.11;1.11;1.11	5.2	5.2	0.72013	.	0.105496	0.64402	D	0.000011	T	0.41305	0.1153	L	0.46157	1.445	0.42105	D	0.99135	B	0.23185	0.081	B	0.21151	0.033	T	0.33904	-0.9850	10	0.66056	D	0.02	-3.9442	18.5174	0.90939	0.0:1.0:0.0:0.0	.	892	Q8IVG5	SAM9L_HUMAN	I	892	ENSP00000326247:M892I;ENSP00000405760:M892I;ENSP00000408796:M892I	ENSP00000326247:M892I	M	-	3	0	SAMD9L	92600545	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.520000	0.60524	2.707000	0.92482	0.453000	0.30009	ATG	-	NULL		0.368	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9L	protein_coding	OTTHUMT00000341730.1	C	NM_152703		92600545	-1	no_errors	NM_152703	genbank	human	validated	54_36p	missense	SNP	1.000	T
HEPHL1	341208	genome.wustl.edu	37	11	93754565	93754565	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr11:93754565T>A	ENST00000315765.9	+	1	39	c.31T>A	c.(31-33)Ttt>Att	p.F11I		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	11					copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TGGCTGCATCTTTCTCCTCAC	0.537																																																0			11											118.0	118.0	118.0					11																	93754565		1930	4127	6057	93394213	SO:0001583	missense	341208			BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.31T>A	11.37:g.93754565T>A	ENSP00000313699:p.Phe11Ile		93394213	Q3C1W7	Missense_Mutation	SNP	superfamily_Cupredoxin,HMMPfam_Cu-oxidase_3,HMMPfam_Cu-oxidase_2,PatternScan_MULTICOPPER_OXIDASE1,PatternScan_MULTICOPPER_OXIDASE2	p.F11I	ENST00000315765.9	37	c.31	CCDS44710.1	11	.	.	.	.	.	.	.	.	.	.	T	11.42	1.634971	0.29068	.	.	ENSG00000181333	ENST00000315765	D	0.99158	-5.5	5.36	0.0968	0.14491	.	1.094880	0.06988	N	0.821127	D	0.94837	0.8332	N	0.08118	0	0.20307	N	0.999912	B	0.02656	0.0	B	0.01281	0.0	D	0.90657	0.4587	10	0.32370	T	0.25	.	5.7802	0.18301	0.0:0.5243:0.2577:0.218	.	11	Q6MZM0	HPHL1_HUMAN	I	11	ENSP00000313699:F11I	ENSP00000313699:F11I	F	+	1	0	HEPHL1	93394213	0.005000	0.15991	0.546000	0.28166	0.682000	0.39822	-0.343000	0.07791	-0.153000	0.11137	-0.468000	0.05107	TTT	-	NULL		0.537	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	HEPHL1	protein_coding	OTTHUMT00000396103.2	T	XM_291947		93394213	+1	no_errors	NM_001098672	genbank	human	validated	54_36p	missense	SNP	0.088	A
TRRAP	8295	genome.wustl.edu	37	7	98534810	98534810	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr7:98534810G>T	ENST00000359863.4	+	29	4352	c.4143G>T	c.(4141-4143)caG>caT	p.Q1381H	TRRAP_ENST00000446306.3_Missense_Mutation_p.Q1380H|TRRAP_ENST00000355540.3_Missense_Mutation_p.Q1381H	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1381					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACCTTCCTCAGTCCAGGGAGA	0.448																																																0			7											169.0	172.0	171.0					7																	98534810		2203	4300	6503	98372746	SO:0001583	missense	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.4143G>T	7.37:g.98534810G>T	ENSP00000352925:p.Gln1381His		98372746	A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	superfamily_ARM repeat,PatternScan_COPPER_BLUE,superfamily_Protein prenylyltransferase,HMMPfam_FAT,superfamily_TPR-like,superfamily_Protein kinase-like (PK-like),HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,HMMPfam_FATC	p.Q1381H	ENST00000359863.4	37	c.4143	CCDS59066.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.1|25.1	4.606297|4.606297	0.87157|0.87157	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.66099|.	-0.19;-0.19|.	5.97|5.97	5.08|5.08	0.68730|0.68730	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68970|0.68970	0.3059|0.3059	L|L	0.53249|0.53249	1.67|1.67	0.80722|0.80722	D|D	1|1	D;P;D|.	0.58620|.	0.983;0.956;0.962|.	P;P;P|.	0.56865|.	0.808;0.458;0.511|.	T|T	0.65282|0.65282	-0.6206|-0.6206	10|5	0.66056|.	D|.	0.02|.	.|.	15.6041|15.6041	0.76649|0.76649	0.0669:0.0:0.9331:0.0|0.0669:0.0:0.9331:0.0	.|.	1381;1095;1381|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	H|I	1381;1381;1379|1096	ENSP00000352925:Q1381H;ENSP00000347733:Q1381H|.	ENSP00000347733:Q1381H|.	Q|S	+|+	3|2	2|0	TRRAP|TRRAP	98372746|98372746	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	4.582000|4.582000	0.60957|0.60957	2.837000|2.837000	0.97791|0.97791	0.655000|0.655000	0.94253|0.94253	CAG|AGT	-	superfamily_ARM repeat		0.448	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	protein_coding	OTTHUMT00000317978.1	G	NM_003496		98372746	+1	no_errors	NM_003496	genbank	human	validated	54_36p	missense	SNP	1.000	T
LRRK1	79705	genome.wustl.edu	37	15	101565115	101565115	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr15:101565115C>A	ENST00000388948.3	+	16	2534	c.2175C>A	c.(2173-2175)aaC>aaA	p.N725K	LRRK1_ENST00000284395.5_Missense_Mutation_p.N722K	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGGTCTGGAACCTGGCGCTGG	0.632																																																0			15											126.0	141.0	136.0					15																	101565115		2059	4189	6248	99382638	SO:0001583	missense	79705			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.2175C>A	15.37:g.101565115C>A	ENSP00000373600:p.Asn725Lys		99382638		Missense_Mutation	SNP	superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,superfamily_L domain-like,HMMSmart_SM00364,HMMSmart_SM00369,HMMPfam_LRR_1,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Miro,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMPfam_Pkinase,HMMSmart_SM00220	p.N725K	ENST00000388948.3	37	c.2175	CCDS42086.1	15	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550211	0.65311	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	T;T	0.80304	-1.36;-1.36	5.11	5.11	0.69529	ROC GTPase (1);Mitochondrial Rho-like (1);	0.000000	0.85682	D	0.000000	D	0.86347	0.5911	L	0.52364	1.645	0.49213	D	0.99976	D	0.76494	0.999	D	0.74674	0.984	T	0.83058	-0.0149	10	0.21014	T	0.42	.	18.5426	0.91035	0.0:1.0:0.0:0.0	.	725	Q38SD2	LRRK1_HUMAN	K	725;722	ENSP00000373600:N725K;ENSP00000284395:N722K	ENSP00000284395:N722K	N	+	3	2	LRRK1	99382638	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.743000	0.55104	2.360000	0.80028	0.650000	0.86243	AAC	-	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Miro		0.632	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRK1	protein_coding	OTTHUMT00000384567.2	C	NM_024652		99382638	+1	no_errors	NM_024652	genbank	human	validated	54_36p	missense	SNP	1.000	A
CORO2A	7464	genome.wustl.edu	37	9	100919860	100919860	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr9:100919860G>A	ENST00000343933.5	-	2	340	c.83C>T	c.(82-84)tCc>tTc	p.S28F	CORO2A_ENST00000375077.4_Missense_Mutation_p.S28F	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	28					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	actin cytoskeleton (GO:0015629)|transcriptional repressor complex (GO:0017053)	actin filament binding (GO:0051015)			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GATAGGCACGGAGTCGTAGCA	0.572																																																0			9											126.0	102.0	110.0					9																	100919860		2203	4300	6503	99959681	SO:0001583	missense	7464			U57057	CCDS6735.1	9q22.3	2013-01-10	2001-11-28		ENSG00000106789	ENSG00000106789		"""Coronins"", ""WD repeat domain containing"""	2255	protein-coding gene	gene with protein product	"""coronin 2A"", ""coronin-like protein B"", ""WD protein IR10"", ""WD-repeat protein 2"""	602159	"""coronin, actin-binding protein, 2A"""			8985118	Standard	NM_052820		Approved	IR10, WDR2	uc004aym.3	Q92828	OTTHUMG00000020340	ENST00000343933.5:c.83C>T	9.37:g.100919860G>A	ENSP00000343746:p.Ser28Phe		99959681	Q5TBR5|Q92829|Q9BWS5	Missense_Mutation	SNP	HMMPfam_DUF1899,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1,HMMPfam_DUF1900,PatternScan_GLNA_1	p.S28F	ENST00000343933.5	37	c.83	CCDS6735.1	9	.	.	.	.	.	.	.	.	.	.	G	16.74	3.207835	0.58343	.	.	ENSG00000106789	ENST00000343933;ENST00000375077	T;T	0.72615	-0.67;-0.67	5.81	3.88	0.44766	Domain of unknown function DUF1899 (1);	0.261438	0.44688	D	0.000433	T	0.72787	0.3504	L	0.39898	1.24	0.26940	N	0.96626	D;P	0.58970	0.984;0.586	P;P	0.61132	0.884;0.516	T	0.64373	-0.6423	10	0.87932	D	0	-9.9143	9.6921	0.40134	0.0805:0.3056:0.6139:0.0	.	57;28	Q59EK2;Q92828	.;COR2A_HUMAN	F	28	ENSP00000343746:S28F;ENSP00000364218:S28F	ENSP00000343746:S28F	S	-	2	0	CORO2A	99959681	0.953000	0.32496	0.685000	0.30070	0.589000	0.36550	3.816000	0.55658	2.756000	0.94617	0.650000	0.86243	TCC	-	HMMPfam_DUF1899		0.572	CORO2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO2A	protein_coding	OTTHUMT00000053357.1	G	NM_003389		99959681	-1	no_errors	NM_003389	genbank	human	reviewed	54_36p	missense	SNP	0.993	A
NXF2B	728343	genome.wustl.edu	37	X	101624569	101624569	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chrX:101624569G>A	ENST00000372750.1	-	9	1121	c.322C>T	c.(322-324)Ccg>Tcg	p.P108S	NXF2B_ENST00000372749.1_Missense_Mutation_p.P108S|NXF2B_ENST00000412230.2_Missense_Mutation_p.P108S|NXF2B_ENST00000457521.2_Missense_Mutation_p.P108S|NXF2B_ENST00000372752.1_Missense_Mutation_p.P20S			Q9GZY0	NXF2_HUMAN	nuclear RNA export factor 2B	108					mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|kidney(1)|lung(4)|ovary(1)	7						TTTCTCTCCGGAGGTTTTCTA	0.443																																																0			X											3.0	5.0	4.0					X																	101624569		305	821	1126	101511225	SO:0001583	missense	728343				CCDS43979.1	Xq22.1	2013-05-14			ENSG00000185945	ENSG00000269437			23984	protein-coding gene	gene with protein product						16382448	Standard	NM_001099686		Approved	bA353J17.1		Q9GZY0	OTTHUMG00000154920	ENST00000372750.1:c.322C>T	X.37:g.101624569G>A	ENSP00000361836:p.Pro108Ser		101511225	Q9BXU4|Q9NSS1|Q9NX66	Missense_Mutation	SNP	superfamily_SSF54928,HMMPfam_Tap-RNA_bind,superfamily_SSF52058,superfamily_SSF54427,HMMPfam_NTF2,superfamily_UBA_like,HMMSmart_TAP_C,HMMPfam_TAP_C	p.P108S	ENST00000372750.1	37	c.322	CCDS43979.1	X	.	.	.	.	.	.	.	.	.	.	G	5.394	0.257894	0.10239	.	.	ENSG00000185945	ENST00000372752;ENST00000457521;ENST00000372749;ENST00000372750;ENST00000412230	T;T;T;T;T	0.41400	1.01;1.0;1.0;1.0;1.0	3.34	-0.958	0.10347	.	2.404500	0.02421	N	0.082581	T	0.18299	0.0439	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.09143	-1.0688	7	0.09084	T	0.74	1.7695	2.1164	0.03714	0.1215:0.3241:0.3751:0.1793	.	.	.	.	S	20;108;108;108;108	ENSP00000361838:P20S;ENSP00000396447:P108S;ENSP00000361835:P108S;ENSP00000361836:P108S;ENSP00000413087:P108S	ENSP00000361835:P108S	P	-	1	0	NXF2B	101511225	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-1.164000	0.03135	-0.351000	0.08249	0.377000	0.23210	CCG	-	NULL		0.443	NXF2B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NXF2B	protein_coding	OTTHUMT00000058979.1	G			101511225	-1	no_errors	NM_001099686	genbank	human	inferred	54_36p	missense	SNP	0.000	A
MMP27	64066	genome.wustl.edu	37	11	102567490	102567490	+	Silent	SNP	G	G	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr11:102567490G>A	ENST00000260229.4	-	5	787	c.696C>T	c.(694-696)gcC>gcT	p.A232A		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	232					collagen catabolic process (GO:0030574)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	Marimastat(DB00786)	GGAACATCAAGGCTGTTTGAT	0.418																																																0			11											97.0	87.0	90.0					11																	102567490		2203	4299	6502	102072700	SO:0001819	synonymous_variant	64066			AF195192	CCDS8319.1	11q24	2008-07-18	2005-08-08		ENSG00000137675	ENSG00000137675			14250	protein-coding gene	gene with protein product	"""matrix metalloprotease 27"""		"""matrix metalloproteinase 27"""			10419448	Standard	NM_022122		Approved		uc001phd.1	Q9H306	OTTHUMG00000168099	ENST00000260229.4:c.696C>T	11.37:g.102567490G>A			102072700	Q6UWK6	Silent	SNP	"HMMPfam_PG_binding_1,superfamily_PGBD-like,PatternScan_CYSTEINE_SWITCH,HMMSmart_SM00235,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Peptidase_M10,PatternScan_ZINC_PROTEASE,superfamily_Hemopexin-like domain,HMMPfam_Hemopexin,HMMSmart_SM00120,PatternScan_HEMOPEXIN"	p.A232	ENST00000260229.4	37	c.696	CCDS8319.1	11																																																																																			-	"HMMSmart_SM00235,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Peptidase_M10"		0.418	MMP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP27	protein_coding	OTTHUMT00000398128.1	G	NM_022122		102072700	-1	no_errors	NM_022122	genbank	human	reviewed	54_36p	silent	SNP	0.976	A
LRP12	29967	genome.wustl.edu	37	8	105509956	105509956	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr8:105509956T>C	ENST00000276654.5	-	5	932	c.824A>G	c.(823-825)tAt>tGt	p.Y275C	LRP12_ENST00000518375.1_5'Flank|LRP12_ENST00000424843.2_Missense_Mutation_p.Y256C	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	275	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AAAGTCTGGATAATTGGGAGA	0.393																																																0			8											61.0	64.0	63.0					8																	105509956		2203	4300	6503	105579132	SO:0001583	missense	29967			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.824A>G	8.37:g.105509956T>C	ENSP00000276654:p.Tyr275Cys		105579132	A8K137|B4DRQ2	Missense_Mutation	SNP	superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_LDL receptor-like module,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1	p.Y275C	ENST00000276654.5	37	c.824	CCDS6303.1	8	.	.	.	.	.	.	.	.	.	.	T	19.10	3.761067	0.69763	.	.	ENSG00000147650	ENST00000424843;ENST00000276654	T;T	0.30714	1.52;1.52	5.66	5.66	0.87406	CUB (5);	0.000000	0.85682	D	0.000000	T	0.67429	0.2892	H	0.95187	3.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.75772	-0.3200	10	0.40728	T	0.16	-27.2806	15.9017	0.79384	0.0:0.0:0.0:1.0	.	256;275	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	C	256;275	ENSP00000399148:Y256C;ENSP00000276654:Y275C	ENSP00000276654:Y275C	Y	-	2	0	LRP12	105579132	1.000000	0.71417	0.975000	0.42487	0.954000	0.61252	7.698000	0.84413	2.153000	0.67306	0.460000	0.39030	TAT	-	superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042		0.393	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRP12	protein_coding	OTTHUMT00000380821.1	T	NM_013437		105579132	-1	no_errors	NM_013437	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
CELSR2	1952	genome.wustl.edu	37	1	109805838	109805838	+	Missense_Mutation	SNP	G	G	A	rs200048357		TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr1:109805838G>A	ENST00000271332.3	+	8	4844	c.4783G>A	c.(4783-4785)Gcg>Acg	p.A1595T		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1595	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCAGTGGGACGCGTTCAGCTG	0.622																																					NSCLC(158;1285 2011 34800 34852 42084)											0			1											50.0	47.0	48.0					1																	109805838		2203	4300	6503	109607361	SO:0001583	missense	1952			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.4783G>A	1.37:g.109805838G>A	ENSP00000271332:p.Ala1595Thr		109607361	Q5T2Y7|Q92566	Missense_Mutation	SNP	PatternScan_G_PROTEIN_RECEP_F2_1,PatternScan_G_PROTEIN_RECEP_F2_2,superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_SSF57196,HMMSmart_EGF,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_EGF_CA,superfamily_ConA_like_lec_gl,HMMSmart_LamG,HMMPfam_Laminin_G_2,PatternScan_ASX_HYDROXYL,HMMSmart_TNFR,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,PatternScan_EGF_LAM_1,HMMSmart_HormR,HMMPfam_HRM,HMMPfam_GPS,HMMSmart_GPS,HMMPfam_7tm_2	p.A1595T	ENST00000271332.3	37	c.4783	CCDS796.1	1	.	.	.	.	.	.	.	.	.	.	G	0.136	-1.108302	0.01813	.	.	ENSG00000143126	ENST00000271332	D	0.91843	-2.92	4.74	-3.29	0.05017	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.47097	0.1427	N	0.01096	-1.015	0.09310	N	0.999996	B	0.06786	0.001	B	0.06405	0.002	T	0.56432	-0.7980	9	0.07482	T	0.82	.	5.856	0.18720	0.2893:0.0:0.1414:0.5694	.	1595	Q9HCU4	CELR2_HUMAN	T	1595	ENSP00000271332:A1595T	ENSP00000271332:A1595T	A	+	1	0	CELSR2	109607361	0.001000	0.12720	0.001000	0.08648	0.739000	0.42172	0.189000	0.17037	-0.470000	0.06901	-1.951000	0.00486	GCG	-	HMMSmart_EGF,HMMPfam_EGF,PatternScan_ASX_HYDROXYL,superfamily_ConA_like_lec_gl		0.622	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	protein_coding	OTTHUMT00000033200.1	G	NM_001408		109607361	+1	no_errors	NM_001408	genbank	human	reviewed	54_36p	missense	SNP	0.955	A
AMIGO1	57463	genome.wustl.edu	37	1	110050127	110050127	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr1:110050127C>G	ENST00000369864.4	-	2	1757	c.1408G>C	c.(1408-1410)Ggc>Cgc	p.G470R	AMIGO1_ENST00000369862.1_Missense_Mutation_p.G470R					adhesion molecule with Ig-like domain 1									p.G470S(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		TGGCCCTTGCCTGTGGCCTCA	0.592																																																1	Substitution - Missense(1)	large_intestine(1)	1											123.0	106.0	112.0					1																	110050127		2203	4300	6503	109851650	SO:0001583	missense	57463				CCDS30795.1	1p13.3	2013-01-11			ENSG00000181754	ENSG00000181754		"""Immunoglobulin superfamily / V-set domain containing"""	20824	protein-coding gene	gene with protein product	"""amphoterin-induced gene and open reading frame"""	615689				12629050	Standard	NM_020703		Approved	AMIGO, KIAA1163	uc001dxx.4	Q86WK6	OTTHUMG00000011653	ENST00000369864.4:c.1408G>C	1.37:g.110050127C>G	ENSP00000358880:p.Gly470Arg		109851650		Missense_Mutation	SNP	superfamily_SSF52058,HMMSmart_LRRNT,HMMSmart_LRR_TYP,HMMPfam_LRR_1,HMMSmart_LRRCT,superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig	p.G470R	ENST00000369864.4	37	c.1408	CCDS30795.1	1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.942432	0.34283	.	.	ENSG00000181754	ENST00000369864;ENST00000369862	T;T	0.48836	0.8;0.8	6.17	5.27	0.74061	.	0.171407	0.36444	N	0.002600	T	0.26955	0.0660	L	0.44542	1.39	0.48830	D	0.999718	B	0.16166	0.016	B	0.09377	0.004	T	0.12708	-1.0537	10	0.52906	T	0.07	-8.7529	14.308	0.66397	0.0:0.9285:0.0:0.0715	.	470	Q86WK6	AMGO1_HUMAN	R	470	ENSP00000358880:G470R;ENSP00000358878:G470R	ENSP00000358878:G470R	G	-	1	0	AMIGO1	109851650	0.000000	0.05858	0.589000	0.28718	0.930000	0.56654	0.297000	0.19101	1.631000	0.50456	0.655000	0.94253	GGC	-	NULL		0.592	AMIGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMIGO1	protein_coding	OTTHUMT00000032247.1	C	NM_020703		109851650	-1	no_errors	NM_020703	genbank	human	validated	54_36p	missense	SNP	0.175	G
DCX	1641	genome.wustl.edu	37	X	110644255	110644255	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chrX:110644255C>T	ENST00000338081.3	-	3	1082	c.911G>A	c.(910-912)gGg>gAg	p.G304E	DCX_ENST00000356915.2_Missense_Mutation_p.G223E|DCX_ENST00000488120.1_Missense_Mutation_p.G223E|DCX_ENST00000356220.3_Missense_Mutation_p.G223E|DCX_ENST00000371993.2_Missense_Mutation_p.G223E|DCX_ENST00000496551.1_5'UTR	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	304	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.		G -> E (in SBHX). {ECO:0000269|PubMed:9618162}.|G -> V (in SBHX). {ECO:0000269|PubMed:11175293}.		axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						TTTGACAACCCCGGTCTCCAG	0.428																																																0			X	GRCh37	CM010025|CM980533	DCX	M							116.0	118.0	117.0					X																	110644255		2203	4300	6503	110530911	SO:0001583	missense	1641			AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"""doublecortex"""	300121	"""doublecortex; lissencephaly, X-linked (doublecortin)"""			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.911G>A	X.37:g.110644255C>T	ENSP00000337697:p.Gly304Glu		110530911	A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP	superfamily_Doublecortin (DC),HMMSmart_SM00537,HMMPfam_DCX	p.G304E	ENST00000338081.3	37	c.911	CCDS14556.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.21|14.21	2.466690|2.466690	0.43839|0.43839	.|.	.|.	ENSG00000077279|ENSG00000077279	ENST00000356915;ENST00000371993;ENST00000338081;ENST00000356220;ENST00000488120|ENST00000358070	D;D;D;D;D|D	0.97665|0.97688	-4.48;-4.48;-4.48;-4.48;-4.48|-4.49	4.74|4.74	3.88|3.88	0.44766|0.44766	Doublecortin domain (5);|.	0.118288|0.118288	0.56097|0.56097	D|D	0.000029|0.000029	D|D	0.98488|0.98488	0.9496|0.9496	M|M	0.88775|0.88775	2.98|2.98	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.995|.	D;D|.	0.83275|.	0.996;0.983|.	D|D	0.98832|0.98832	1.0751|1.0751	10|8	0.66056|0.66056	D|D	0.02|0.02	.|.	12.8965|12.8965	0.58101|0.58101	0.0:0.917:0.0:0.083|0.0:0.917:0.0:0.083	.|.	292;304|.	B4DM53;O43602|.	.;DCX_HUMAN|.	E|R	223;223;304;223;223|296	ENSP00000349385:G223E;ENSP00000361061:G223E;ENSP00000337697:G304E;ENSP00000348553:G223E;ENSP00000419861:G223E|ENSP00000350776:G296R	ENSP00000337697:G304E|ENSP00000350776:G296R	G|G	-|-	2|1	0|0	DCX|DCX	110530911|110530911	1.000000|1.000000	0.71417|0.71417	0.836000|0.836000	0.33094|0.33094	0.064000|0.064000	0.16182|0.16182	7.798000|7.798000	0.85924|0.85924	1.081000|1.081000	0.41110|0.41110	-0.191000|-0.191000	0.12829|0.12829	GGG|GGG	-	superfamily_Doublecortin (DC),HMMSmart_SM00537,HMMPfam_DCX		0.428	DCX-006	KNOWN	basic|CCDS	protein_coding	DCX	protein_coding	OTTHUMT00000357058.1	C	NM_178153		110530911	-1	no_errors	NM_000555	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
SLC16A10	117247	genome.wustl.edu	37	6	111527918	111527918	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr6:111527918G>T	ENST00000368851.5	+	4	1241	c.1066G>T	c.(1066-1068)Gtg>Ttg	p.V356L	SLC16A10_ENST00000368850.3_Missense_Mutation_p.V42L	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	356					amino acid transport (GO:0006865)|aromatic amino acid transport (GO:0015801)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)	Droxidopa(DB06262)|Glycine(DB00145)|L-Alanine(DB00160)|L-Arginine(DB00125)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Cystine(DB00138)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Histidine(DB00117)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Lysine(DB00123)|L-Methionine(DB00134)|L-Phenylalanine(DB00120)|L-Proline(DB00172)|L-Serine(DB00133)|L-Threonine(DB00156)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|L-Valine(DB00161)|Liothyronine(DB00279)|Liotrix(DB01583)|Pyruvic acid(DB00119)	TGTGCCTGGTGTGAAGAAGGT	0.393																																																0			6											187.0	167.0	174.0					6																	111527918		2203	4300	6503	111634611	SO:0001583	missense	117247			AF116652	CCDS5089.1	6q21-q22	2014-01-28	2013-07-18		ENSG00000112394	ENSG00000112394		"""Solute carriers"""	17027	protein-coding gene	gene with protein product		607550	"""solute carrier family 16 (monocarboxylic acid transporters), member 10"""			11278508, 11827462	Standard	NM_018593		Approved	TAT1, MCT10	uc003pus.3	Q8TF71	OTTHUMG00000015371	ENST00000368851.5:c.1066G>T	6.37:g.111527918G>T	ENSP00000357844:p.Val356Leu		111634611	B3KWY0|Q6ZMG0|Q8WVI5	Missense_Mutation	SNP	superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1	p.V356L	ENST00000368851.5	37	c.1066	CCDS5089.1	6	.	.	.	.	.	.	.	.	.	.	G	15.84	2.951674	0.53186	.	.	ENSG00000112394	ENST00000368851;ENST00000368850	T;T	0.58652	0.32;0.38	5.16	5.16	0.70880	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.059469	0.64402	D	0.000003	T	0.39384	0.1076	L	0.46885	1.475	0.54753	D	0.999981	B	0.10296	0.003	B	0.16289	0.015	T	0.26326	-1.0106	10	0.29301	T	0.29	.	18.2231	0.89907	0.0:0.0:1.0:0.0	.	356	Q8TF71	MOT10_HUMAN	L	356;42	ENSP00000357844:V356L;ENSP00000357843:V42L	ENSP00000357843:V42L	V	+	1	0	SLC16A10	111634611	1.000000	0.71417	0.995000	0.50966	0.952000	0.60782	4.120000	0.57897	2.389000	0.81357	0.313000	0.20887	GTG	-	superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1		0.393	SLC16A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A10	protein_coding	OTTHUMT00000041822.2	G			111634611	+1	no_errors	NM_018593	genbank	human	validated	54_36p	missense	SNP	1.000	T
NCAM1	4684	genome.wustl.edu	37	11	113133635	113133635	+	Silent	SNP	T	T	C			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr11:113133635T>C	ENST00000533760.1	+	17	2414	c.1815T>C	c.(1813-1815)ctT>ctC	p.L605L	NCAM1_ENST00000397957.4_Intron|NCAM1_ENST00000316851.7_Intron	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	0	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TGACTCTTCTTTTGCTCTGTT	0.448																																																0			11											137.0	128.0	131.0					11																	113133635		1877	4123	6000	112638845	SO:0001819	synonymous_variant	4684				CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.1815T>C	11.37:g.113133635T>C			112638845	A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	NULL	p.F759L	ENST00000533760.1	37	c.2275		11																																																																																			-	NULL		0.448	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	NCAM1	protein_coding	OTTHUMT00000394068.2	T	NM_000615		112638845	+1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	NM_001076682	genbank	human	validated	54_36p	missense	SNP	0.869	C
CIT	11113	genome.wustl.edu	37	12	120139731	120139731	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr12:120139731G>C	ENST00000261833.7	-	41	5263	c.5211C>G	c.(5209-5211)atC>atG	p.I1737M	CIT_ENST00000392521.2_Missense_Mutation_p.I1779M|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1737	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TGGTGAAGTGGATACAGCTGC	0.498																																																0			12											161.0	154.0	156.0					12																	120139731		2203	4300	6503	118624114	SO:0001583	missense	11113			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.5211C>G	12.37:g.120139731G>C	ENSP00000261833:p.Ile1737Met		118624114	Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_SM00133,HMMPfam_Pkinase_C,PatternScan_CPSASE_2,superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMSmart_SM00036,HMMPfam_CNH	p.I1737M	ENST00000261833.7	37	c.5211	CCDS9192.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.93|17.93	3.509737|3.509737	0.64522|0.64522	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392521;ENST00000261833|ENST00000392520	T;T|.	0.05855|.	3.38;3.38|.	5.68|5.68	1.28|1.28	0.21552|0.21552	Citron-like (3);|.	0.061267|.	0.64402|.	D|.	0.000005|.	T|T	0.54791|0.54791	0.1880|0.1880	L|L	0.55743|0.55743	1.74|1.74	0.45477|0.45477	D|D	0.998442|0.998442	D;P;D|.	0.89917|.	1.0;0.582;0.994|.	D;P;D|.	0.91635|.	0.999;0.641;0.923|.	T|T	0.46456|0.46456	-0.9190|-0.9190	10|5	0.87932|.	D|.	0|.	.|.	5.461|5.461	0.16617|0.16617	0.2642:0.0:0.5029:0.233|0.2642:0.0:0.5029:0.233	.|.	1779;1737;1255|.	Q2M5E1;O14578;O14578-3|.	.;CTRO_HUMAN;.|.	M|C	1779;1737|1350	ENSP00000376306:I1779M;ENSP00000261833:I1737M|.	ENSP00000261833:I1737M|.	I|S	-|-	3|2	3|0	CIT|CIT	118624114|118624114	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.300000|1.300000	0.33436|0.33436	0.332000|0.332000	0.23536|0.23536	0.650000|0.650000	0.86243|0.86243	ATC|TCC	-	HMMSmart_SM00036,HMMPfam_CNH		0.498	CIT-001	KNOWN	basic|CCDS	protein_coding	CIT	protein_coding	OTTHUMT00000259410.4	G	NM_007174		118624114	-1	no_errors	NM_007174	genbank	human	validated	54_36p	missense	SNP	1.000	C
ASTN2	23245	genome.wustl.edu	37	9	119737524	119737524	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr9:119737524T>G	ENST00000313400.4	-	10	1952	c.1852A>C	c.(1852-1854)Acc>Ccc	p.T618P	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.T614P|ASTN2_ENST00000361209.2_Missense_Mutation_p.T567P			O75129	ASTN2_HUMAN	astrotactin 2	618					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AGCACATCGGTCTTGCAGCTG	0.542																																																0			9											89.0	87.0	88.0					9																	119737524		2203	4300	6503	118777345	SO:0001583	missense	23245			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1852A>C	9.37:g.119737524T>G	ENSP00000314038:p.Thr618Pro		118777345	A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	superfamily_EGF/Laminin,HMMSmart_SM00457,superfamily_Fibronectin type III,HMMPfam_fn3	p.T618P	ENST00000313400.4	37	c.1852		9	.	.	.	.	.	.	.	.	.	.	T	17.83	3.486181	0.63962	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	T;T;T;T	0.15256	2.6;2.6;2.44;2.64	5.79	5.79	0.91817	.	0.115667	0.56097	D	0.000023	T	0.28499	0.0705	N	0.20986	0.625	0.80722	D	1	D;D;P	0.89917	1.0;0.999;0.867	D;D;P	0.87578	0.998;0.991;0.689	T	0.04103	-1.0977	9	.	.	.	-14.9815	16.1282	0.81408	0.0:0.0:0.0:1.0	.	567;618;614	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	P	618;614;341;567	ENSP00000314038:T618P;ENSP00000363108:T614P;ENSP00000363098:T341P;ENSP00000354504:T567P	.	T	-	1	0	ASTN2	118777345	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	8.040000	0.89188	2.209000	0.71365	0.459000	0.35465	ACC	-	NULL		0.542	ASTN2-201	KNOWN	basic	protein_coding	ASTN2	protein_coding		T	NM_014010		118777345	-1	no_errors	NM_198187	genbank	human	validated	54_36p	missense	SNP	1.000	G
OASL	8638	genome.wustl.edu	37	12	121458606	121458606	+	Nonsense_Mutation	SNP	G	G	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr12:121458606G>A	ENST00000257570.5	-	6	1573	c.1303C>T	c.(1303-1305)Cag>Tag	p.Q435*	OASL_ENST00000339275.5_3'UTR	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	435	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|transferase activity (GO:0016740)			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACGAAGACCTGGATCTCGGAG	0.542																																					Colon(192;517 2041 31392 31913 39966)											0			12											91.0	88.0	89.0					12																	121458606		2203	4300	6503	119942989	SO:0001587	stop_gained	8638			AF063611	CCDS9211.1, CCDS9212.1, CCDS73536.1	12q24.2	2008-08-05			ENSG00000135114	ENSG00000135114			8090	protein-coding gene	gene with protein product		603281				10087211	Standard	NM_003733		Approved	TRIP14, p59OASL	uc001tzj.2	Q15646	OTTHUMG00000154981	ENST00000257570.5:c.1303C>T	12.37:g.121458606G>A	ENSP00000257570:p.Gln435*		119942989	B2RAZ2|I1YDD2|O75686|Q17R95|Q9Y6K6|Q9Y6K7	Nonsense_Mutation	SNP	superfamily_Nucleotidyltransferase,PatternScan_25A_SYNTH_1,HMMPfam_OAS1_C,superfamily_PAP/OAS1 substrate-binding domain,PatternScan_25A_SYNTH_2,HMMSmart_SM00213,superfamily_Ubiquitin-like,HMMPfam_ubiquitin	p.Q435*	ENST00000257570.5	37	c.1303	CCDS9211.1	12	.	.	.	.	.	.	.	.	.	.	G	37	5.979353	0.97168	.	.	ENSG00000135114	ENST00000257570	.	.	.	6.17	6.17	0.99709	.	0.273216	0.26210	N	0.025681	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-0.457	16.3795	0.83443	0.0:0.0:1.0:0.0	.	.	.	.	X	435	.	ENSP00000257570:Q435X	Q	-	1	0	OASL	119942989	1.000000	0.71417	1.000000	0.80357	0.405000	0.30901	1.918000	0.40006	2.941000	0.99782	0.655000	0.94253	CAG	-	superfamily_Ubiquitin-like,HMMSmart_SM00213		0.542	OASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OASL	protein_coding	OTTHUMT00000337875.2	G	NM_003733		119942989	-1	no_errors	NM_003733	genbank	human	validated	54_36p	nonsense	SNP	1.000	A
ADAM30	11085	genome.wustl.edu	37	1	120438485	120438485	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr1:120438485C>T	ENST00000369400.1	-	1	633	c.475G>A	c.(475-477)Gtc>Atc	p.V159I		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	159					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V159I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AGGAGATAGACGACATGTTCA	0.453																																																1	Substitution - Missense(1)	NS(1)	1											87.0	88.0	88.0					1																	120438485		2203	4300	6503	120240008	SO:0001583	missense	11085			AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.475G>A	1.37:g.120438485C>T	ENSP00000358407:p.Val159Ile		120240008	A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	"HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin),PatternScan_DISINTEGRIN_1,HMMSmart_SM00608,HMMPfam_ADAM_CR,PatternScan_EGF_2"	p.V159I	ENST00000369400.1	37	c.475	CCDS907.1	1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.565732	0.27915	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.05382	3.45	4.29	-4.63	0.03359	Peptidase M12B, propeptide (1);	0.410760	0.17367	N	0.176826	T	0.00936	0.0031	N	0.25485	0.75	0.09310	N	1	P	0.37176	0.586	B	0.35607	0.206	T	0.44922	-0.9296	10	0.34782	T	0.22	.	0.7489	0.00987	0.3924:0.2571:0.1285:0.2221	.	159	Q9UKF2	ADA30_HUMAN	I	159	ENSP00000358407:V159I	ENSP00000358407:V159I	V	-	1	0	ADAM30	120240008	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.320000	0.08028	-0.745000	0.04772	0.563000	0.77884	GTC	-	HMMPfam_Pep_M12B_propep		0.453	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM30	protein_coding	OTTHUMT00000033678.1	C	NM_021794		120240008	-1	no_errors	NM_021794	genbank	human	reviewed	54_36p	missense	SNP	0.001	T
TIMMDC1	51300	genome.wustl.edu	37	3	119219586	119219586	+	Missense_Mutation	SNP	C	C	T	rs113067251		TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr3:119219586C>T	ENST00000494664.1	+	2	441	c.239C>T	c.(238-240)aCg>aTg	p.T80M	TIMMDC1_ENST00000493694.1_Intron|RP11-190C22.8_ENST00000609598.1_lincRNA	NM_016589.3	NP_057673.2	Q9NPL8	TIDC1_HUMAN	translocase of inner mitochondrial membrane domain containing 1	80						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						ATCTGTAAGACGGCAGCTACA	0.408																																																0			3											136.0	137.0	137.0					3																	119219586		2203	4300	6503	120702276	SO:0001583	missense	51300			AF210057	CCDS33831.1	3q13.33	2013-12-05	2011-07-05	2011-07-05	ENSG00000113845	ENSG00000113845			1321	protein-coding gene	gene with protein product		615534	"""chromosome 3 open reading frame 1"""	C3orf1		11092749	Standard	NM_016589		Approved	FLJ22597	uc003ecn.3	Q9NPL8	OTTHUMG00000159388	ENST00000494664.1:c.239C>T	3.37:g.119219586C>T	ENSP00000418803:p.Thr80Met		120702276	D3DN81|Q6IAJ7|Q6UWU6|Q9NPR3|Q9NPS5|Q9P0Y6	Missense_Mutation	SNP	NULL	p.T80M	ENST00000494664.1	37	c.239	CCDS33831.1	3	.	.	.	.	.	.	.	.	.	.	C	4.273	0.049782	0.08243	.	.	ENSG00000113845	ENST00000494664	T	0.31769	1.48	6.06	5.18	0.71444	.	0.418221	0.27966	N	0.017122	T	0.16599	0.0399	N	0.03608	-0.345	0.21147	N	0.999774	B	0.14012	0.009	B	0.11329	0.006	T	0.16837	-1.0389	10	0.48119	T	0.1	-4.2952	14.4246	0.67207	0.0:0.9239:0.0:0.0761	.	80	Q9NPL8	TIDC1_HUMAN	M	80	ENSP00000418803:T80M	ENSP00000264244:T80M	T	+	2	0	TIMMDC1	120702276	0.828000	0.29307	0.014000	0.15608	0.000000	0.00434	2.095000	0.41729	0.910000	0.36722	-0.797000	0.03246	ACG	-	NULL		0.408	TIMMDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf1	protein_coding	OTTHUMT00000355077.3	C	NM_016589		120702276	+1	no_errors	NM_016589	genbank	human	validated	54_36p	missense	SNP	0.012	T
LRRC58	116064	genome.wustl.edu	37	3	120054737	120054737	+	Silent	SNP	C	C	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr3:120054737C>T	ENST00000295628.3	-	2	659	c.564G>A	c.(562-564)ctG>ctA	p.L188L		NM_001099678.1	NP_001093148.1	Q96CX6	LRC58_HUMAN	leucine rich repeat containing 58	188										large_intestine(2)|lung(5)	7				GBM - Glioblastoma multiforme(114;0.147)		TCAGAGAAGGCAGATTTCCTA	0.328																																																0			3											119.0	112.0	114.0					3																	120054737		1812	4078	5890	121537427	SO:0001819	synonymous_variant	116064			BC013757	CCDS46892.1	3q13.33	2006-01-06			ENSG00000163428	ENSG00000163428			26968	protein-coding gene	gene with protein product							Standard	NM_001099678		Approved		uc003edr.2	Q96CX6	OTTHUMG00000159407	ENST00000295628.3:c.564G>A	3.37:g.120054737C>T			121537427		Silent	SNP	superfamily_SSF52058,HMMPfam_LRR_1,HMMSmart_LRR_TYP	p.L188	ENST00000295628.3	37	c.564	CCDS46892.1	3																																																																																			-	superfamily_SSF52058,HMMPfam_LRR_1		0.328	LRRC58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC58	protein_coding	OTTHUMT00000355142.1	C	XM_057296		121537427	-1	no_errors	NM_001099678	genbank	human	validated	54_36p	silent	SNP	1.000	T
GRIA3	2892	genome.wustl.edu	37	X	122538715	122538715	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chrX:122538715G>T	ENST00000371251.1	+	10	1502	c.1450G>T	c.(1450-1452)Gat>Tat	p.D484Y	GRIA3_ENST00000541091.1_Missense_Mutation_p.D468Y|GRIA3_ENST00000542149.1_Missense_Mutation_p.D484Y|GRIA3_ENST00000264357.5_Missense_Mutation_p.D484Y|GRIA3_ENST00000371256.5_Missense_Mutation_p.D484Y			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	484					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	TGGTGCAAGGGATCCAGAGAC	0.393																																																0			X											219.0	190.0	200.0					X																	122538715		2203	4300	6503	122366396	SO:0001583	missense	2892			U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.1450G>T	X.37:g.122538715G>T	ENSP00000360297:p.Asp484Tyr		122366396	D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan	p.D484Y	ENST00000371251.1	37	c.1450	CCDS14604.1	X	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007217	0.75046	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251;ENST00000541091	T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15	5.4	4.54	0.55810	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.88683	0.6503	M	0.87682	2.9	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.992;0.999;0.998	D	0.89983	0.4102	10	0.87932	D	0	.	12.5746	0.56357	0.0822:0.0:0.9178:0.0	.	468;484;484	B7Z4C0;P42263;P42263-2	.;GRIA3_HUMAN;.	Y	484;484;484;484;468	ENSP00000264357:D484Y;ENSP00000446146:D484Y;ENSP00000360302:D484Y;ENSP00000360297:D484Y;ENSP00000446440:D468Y	ENSP00000264357:D484Y	D	+	1	0	GRIA3	122366396	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.768000	0.74980	1.158000	0.42547	0.506000	0.49869	GAT	-	HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II,HMMPfam_Lig_chan-Glu_bd		0.393	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA3	protein_coding	OTTHUMT00000058854.1	G	NM_000828		122366396	+1	no_errors	NM_000828	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
RC3H2	54542	genome.wustl.edu	37	9	125642404	125642404	+	Splice_Site	SNP	G	G	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr9:125642404G>A	ENST00000373670.1	-	6	1561	c.961C>T	c.(961-963)Cta>Tta	p.L321L	RC3H2_ENST00000423239.2_Splice_Site_p.L321L|RC3H2_ENST00000357244.2_Splice_Site_p.L321L|RC3H2_ENST00000335387.5_Splice_Site_p.L321L|RC3H2_ENST00000373665.2_Splice_Site_p.L321L|SNORD90_ENST00000391145.1_RNA			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	321					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GGAGACTGTAGCTAACAAACA	0.343																																																0			9											115.0	107.0	110.0					9																	125642404		1846	4086	5932	124682225	SO:0001630	splice_region_variant	54542			AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.961-1C>T	9.37:g.125642404G>A			124682225	Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Silent	SNP	superfamily_RING/U-box,HMMPfam_zf-C3HC4,HMMSmart_SM00184,PatternScan_ZF_RING_1,superfamily_CCCH zinc finger,HMMSmart_SM00356,HMMPfam_zf-CCCH	p.L321	ENST00000373670.1	37	c.961	CCDS43874.1	9																																																																																			-	NULL		0.343	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RC3H2	protein_coding	OTTHUMT00000053966.1	G	NM_018835	Silent	124682225	-1	no_errors	NM_001100588	genbank	human	validated	54_36p	silent	SNP	1.000	A
HEG1	57493	genome.wustl.edu	37	3	124720726	124720726	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr3:124720726G>T	ENST00000311127.4	-	11	3554	c.3487C>A	c.(3487-3489)Ctc>Atc	p.L1163I		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	1163					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GATCCCAAGAGCTGGCAGACC	0.512																																																0			3											53.0	50.0	51.0					3																	124720726		1935	4127	6062	126203416	SO:0001583	missense	57493			AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.3487C>A	3.37:g.124720726G>T	ENSP00000311502:p.Leu1163Ile		126203416	Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	superfamily_EGF/Laminin,HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_CA,HMMPfam_EGF_CA,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2	p.L1163I	ENST00000311127.4	37	c.3487	CCDS46898.1	3	.	.	.	.	.	.	.	.	.	.	G	2.536	-0.307481	0.05458	.	.	ENSG00000173706	ENST00000311127;ENST00000487661	D;D	0.97455	-2.47;-4.39	5.65	1.71	0.24356	.	0.445392	0.16117	U	0.228837	D	0.90518	0.7029	N	0.12182	0.205	0.27297	N	0.957696	B	0.18310	0.027	B	0.20184	0.028	T	0.82866	-0.0245	10	0.30854	T	0.27	.	6.4305	0.21794	0.4596:0.0:0.5404:0.0	.	1163	Q9ULI3	HEG1_HUMAN	I	1163;47	ENSP00000311502:L1163I;ENSP00000417648:L47I	ENSP00000311502:L1163I	L	-	1	0	HEG1	126203416	1.000000	0.71417	0.996000	0.52242	0.354000	0.29330	2.146000	0.42216	0.502000	0.28037	-0.794000	0.03295	CTC	-	NULL		0.512	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEG1	protein_coding	OTTHUMT00000355732.2	G	XM_087386		126203416	-1	no_errors	NM_020733	genbank	human	validated	54_36p	missense	SNP	0.971	T
ALDH1L1	10840	genome.wustl.edu	37	3	125824644	125824644	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr3:125824644C>A	ENST00000393434.2	-	22	2927	c.2578G>T	c.(2578-2580)Gtc>Ttc	p.V860F	ALDH1L1_ENST00000452905.2_Missense_Mutation_p.V759F|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.V870F|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.V860F	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	860	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TACGTGTTGACAAACACAGTG	0.537																																																0			3											218.0	202.0	207.0					3																	125824644		2203	4300	6503	127307334	SO:0001583	missense	10840			AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.2578G>T	3.37:g.125824644C>A	ENSP00000377083:p.Val860Phe		127307334	B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	PatternScan_PHOSPHOPANTETHEINE,HMMPfam_Formyl_trans_N,superfamily_formyl_transf,PatternScan_GART,superfamily_FMT_C_like,HMMPfam_Formyl_trans_C,superfamily_ACP_like,superfamily_Aldehyde_DH/Histidinol_DH,HMMPfam_Aldedh,PatternScan_ALDEHYDE_DEHYDR_GLU,PatternScan_ALDEHYDE_DEHYDR_CYS	p.V860F	ENST00000393434.2	37	c.2578	CCDS3034.1	3	.	.	.	.	.	.	.	.	.	.	C	16.59	3.166278	0.57476	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434	T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29	4.43	-0.201	0.13212	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.244994	0.33199	N	0.005167	D	0.91429	0.7295	H	0.97896	4.1	0.80722	D	1	D;D;P	0.76494	0.98;0.999;0.911	P;D;P	0.79108	0.876;0.992;0.776	D	0.88680	0.3201	10	0.87932	D	0	.	7.5	0.27511	0.0:0.4188:0.0:0.5812	.	759;395;860	E9PBX3;Q6ZV71;O75891	.;.;AL1L1_HUMAN	F	870;860;759;860	ENSP00000273450:V870F;ENSP00000420293:V860F;ENSP00000395881:V759F;ENSP00000377083:V860F	ENSP00000273450:V870F	V	-	1	0	ALDH1L1	127307334	0.209000	0.23505	0.783000	0.31826	0.767000	0.43475	0.287000	0.18920	-0.111000	0.12001	-0.229000	0.12294	GTC	-	superfamily_Aldehyde_DH/Histidinol_DH,HMMPfam_Aldedh		0.537	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1L1	protein_coding	OTTHUMT00000354391.1	C	NM_012190		127307334	-1	no_errors	NM_012190	genbank	human	reviewed	54_36p	missense	SNP	0.932	A
UGGT1	56886	genome.wustl.edu	37	2	128900716	128900716	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr2:128900716G>A	ENST00000259253.6	+	17	1815	c.1768G>A	c.(1768-1770)Gtc>Atc	p.V590I	UGGT1_ENST00000375990.3_Missense_Mutation_p.V566I	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	590					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TGAACATGTGGTCAGTGTCCT	0.348																																																0			2											168.0	161.0	163.0					2																	128900716		2203	4300	6503	128617186	SO:0001583	missense	56886			AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.1768G>A	2.37:g.128900716G>A	ENSP00000259253:p.Val590Ile		128617186	Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	HMMPfam_UDP-g_GGTase,superfamily_Nucleotide-diphospho-sugar transferases	p.V590I	ENST00000259253.6	37	c.1768	CCDS2154.1	2	.	.	.	.	.	.	.	.	.	.	G	13.66	2.303487	0.40795	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.37915	1.17;1.17	5.23	4.33	0.51752	.	0.175577	0.49916	D	0.000123	T	0.28699	0.0711	L	0.45228	1.405	0.54753	D	0.999989	B;B	0.13594	0.008;0.005	B;B	0.13407	0.009;0.007	T	0.05903	-1.0857	10	0.32370	T	0.25	.	9.909	0.41394	0.1531:0.0:0.8469:0.0	.	566;590	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	I	566;590	ENSP00000365158:V566I;ENSP00000259253:V590I	ENSP00000259253:V590I	V	+	1	0	UGGT1	128617186	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.585000	0.60977	2.608000	0.88229	0.650000	0.86243	GTC	-	NULL		0.348	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGCGL1	protein_coding	OTTHUMT00000254435.2	G	NM_020120		128617186	+1	no_errors	NM_020120	genbank	human	validated	54_36p	missense	SNP	1.000	A
IGSF1	3547	genome.wustl.edu	37	X	130408643	130408643	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chrX:130408643G>C	ENST00000361420.3	-	18	3760	c.3681C>G	c.(3679-3681)agC>agG	p.S1227R	IGSF1_ENST00000370903.3_Missense_Mutation_p.S1232R|IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370910.1_Missense_Mutation_p.S1218R|IGSF1_ENST00000370904.1_Missense_Mutation_p.S1218R			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1227	Ig-like C2-type 12.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GGAGGCGGTAGCTGCAGCTGT	0.507																																																0			X											189.0	173.0	178.0					X																	130408643		2203	4300	6503	130236324	SO:0001583	missense	3547			AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.3681C>G	X.37:g.130408643G>C	ENSP00000355010:p.Ser1227Arg		130236324	B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig,HMMSmart_SM00408	p.S1227R	ENST00000361420.3	37	c.3681	CCDS14629.1	X	.	.	.	.	.	.	.	.	.	.	G	14.91	2.675145	0.47781	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.11169	2.8;2.8;2.8;2.8	5.62	3.84	0.44239	Immunoglobulin-like fold (1);	0.196491	0.36972	N	0.002318	T	0.13329	0.0323	N	0.10809	0.05	0.33991	D	0.649159	B;B;D	0.71674	0.222;0.379;0.998	B;B;D	0.79784	0.284;0.351;0.993	T	0.21999	-1.0229	10	0.87932	D	0	.	6.955	0.24565	0.2064:0.0:0.7936:0.0	.	1218;671;1227	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	R	1218;1227;1218;1232	ENSP00000359947:S1218R;ENSP00000355010:S1227R;ENSP00000359941:S1218R;ENSP00000359940:S1232R	ENSP00000355010:S1227R	S	-	3	2	IGSF1	130236324	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.613000	0.24299	1.262000	0.44165	0.594000	0.82650	AGC	-	superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig		0.507	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF1	protein_coding	OTTHUMT00000058288.1	G			130236324	-1	no_errors	NM_001555	genbank	human	validated	54_36p	missense	SNP	1.000	C
PLXNA4	91584	genome.wustl.edu	37	7	131817904	131817904	+	Silent	SNP	T	T	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr7:131817904T>A	ENST00000359827.3	-	31	6455	c.5493A>T	c.(5491-5493)gcA>gcT	p.A1831A	PLXNA4_ENST00000321063.4_Silent_p.A1831A			Q9HCM2	PLXA4_HUMAN	plexin A4	1831					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CAGCCAGGTATGCGTTCATGT	0.502																																																0			7											146.0	148.0	147.0					7																	131817904		2198	4300	6498	131468444	SO:0001819	synonymous_variant	91584			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.5493A>T	7.37:g.131817904T>A			131468444	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	superfamily_Sema domain,HMMPfam_Sema,HMMSmart_SM00630,HMMPfam_PSI,HMMSmart_SM00423,superfamily_Plexin repeat,HMMSmart_SM00429,superfamily_E set domains,HMMPfam_TIG,HMMPfam_Plexin_cytopl,superfamily_GTPase activation domain GAP	p.A1831	ENST00000359827.3	37	c.5493	CCDS43646.1	7																																																																																			-	HMMPfam_Plexin_cytopl,superfamily_GTPase activation domain GAP		0.502	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA4	protein_coding	OTTHUMT00000338422.2	T	NM_181775		131468444	-1	no_errors	NM_020911	genbank	human	validated	54_36p	silent	SNP	0.096	A
COL6A6	131873	genome.wustl.edu	37	3	130340669	130340669	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr3:130340669C>A	ENST00000358511.6	+	23	4851	c.4820C>A	c.(4819-4821)cCt>cAt	p.P1607H	COL6A6_ENST00000453409.2_Missense_Mutation_p.P1607H	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1607	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TTTCAGGGGCCTCCAGGACCC	0.443																																																0			3											79.0	78.0	79.0					3																	130340669		1820	4071	5891	131823359	SO:0001583	missense	131873			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.4820C>A	3.37:g.130340669C>A	ENSP00000351310:p.Pro1607His		131823359	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	HMMSmart_SM00327,superfamily_vWA-like,HMMPfam_VWA,HMMPfam_Collagen	p.P1607H	ENST00000358511.6	37	c.4820	CCDS46911.1	3	.	.	.	.	.	.	.	.	.	.	C	14.86	2.662014	0.47572	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.96967	-4.19;-4.19	5.66	4.77	0.60923	.	.	.	.	.	D	0.97895	0.9308	M	0.89785	3.06	0.28466	N	0.915661	D	0.67145	0.996	D	0.64321	0.924	D	0.94231	0.7476	9	0.46703	T	0.11	.	9.3974	0.38410	0.0:0.8986:0.0:0.1014	.	1607	A6NMZ7	CO6A6_HUMAN	H	1607	ENSP00000351310:P1607H;ENSP00000399236:P1607H	ENSP00000351310:P1607H	P	+	2	0	COL6A6	131823359	0.949000	0.32298	0.999000	0.59377	0.847000	0.48162	0.938000	0.28965	1.342000	0.45619	0.655000	0.94253	CCT	-	HMMPfam_Collagen		0.443	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL6A6	protein_coding	OTTHUMT00000356705.5	C	NM_001102608		131823359	+1	no_errors	NM_001102608	genbank	human	provisional	54_36p	missense	SNP	0.990	A
COL5A1	1289	genome.wustl.edu	37	9	137716473	137716473	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr9:137716473C>G	ENST00000371817.3	+	62	5140	c.4726C>G	c.(4726-4728)Ctg>Gtg	p.L1576V		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1576	Nonhelical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CATCCAGCCCCTGCCAATCCA	0.652																																																0			9											37.0	35.0	36.0					9																	137716473		2203	4300	6503	136856294	SO:0001583	missense	1289			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.4726C>G	9.37:g.137716473C>G	ENSP00000360882:p.Leu1576Val		136856294	Q15094|Q5SUX4	Missense_Mutation	SNP	HMMSmart_TSPN,superfamily_ConA_like_lec_gl,HMMSmart_LamG,HMMPfam_Laminin_G_2,HMMPfam_Collagen,HMMSmart_COLFI,HMMPfam_COLFI	p.L1576V	ENST00000371817.3	37	c.4726	CCDS6982.1	9	.	.	.	.	.	.	.	.	.	.	C	14.87	2.663699	0.47572	.	.	ENSG00000130635	ENST00000371817;ENST00000355306	D	0.90261	-2.64	4.21	1.83	0.25207	.	0.000000	0.56097	U	0.000031	D	0.88753	0.6522	M	0.80332	2.49	0.38287	D	0.942584	P	0.51057	0.941	B	0.42738	0.396	D	0.86334	0.1700	10	0.30078	T	0.28	.	8.7107	0.34382	0.0:0.6922:0.0:0.3078	.	1576	P20908	CO5A1_HUMAN	V	1576;113	ENSP00000360882:L1576V	ENSP00000347458:L113V	L	+	1	2	COL5A1	136856294	0.812000	0.29077	0.999000	0.59377	0.988000	0.76386	1.577000	0.36515	0.881000	0.35993	0.442000	0.29010	CTG	-	NULL		0.652	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A1	protein_coding	OTTHUMT00000054954.2	C	NM_000093		136856294	+1	no_errors	NM_000093	genbank	human	reviewed	54_36p	missense	SNP	0.975	G
MSL2	55167	genome.wustl.edu	37	3	135870373	135870373	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr3:135870373C>G	ENST00000309993.2	-	2	2082	c.1350G>C	c.(1348-1350)aaG>aaC	p.K450N	MSL2_ENST00000434835.2_Missense_Mutation_p.K376N	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	450	Lys-rich.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						TGTACACAGTCTTGGTAGGAC	0.423																																																0			3											85.0	89.0	87.0					3																	135870373		2203	4300	6503	137353063	SO:0001583	missense	55167			AK001408	CCDS33861.1, CCDS46922.1	3q22.2	2008-10-29	2008-10-29	2008-10-29	ENSG00000174579	ENSG00000174579		"""RING-type (C3HC4) zinc fingers"""	25544	protein-coding gene	gene with protein product	"""male-specific lethal-2 homolog (Drosophila)"""	614802	"""ring finger protein 184"", ""male-specific lethal 2-like 1 (Drosophila)"""	RNF184, MSL2L1		16227571, 16543150	Standard	NM_018133		Approved	FLJ10546, KIAA1585, msl-2	uc003eqx.1	Q9HCI7	OTTHUMG00000159793	ENST00000309993.2:c.1350G>C	3.37:g.135870373C>G	ENSP00000311827:p.Lys450Asn		137353063	B4DYL4|G5E9I1|Q0D2P1|Q8NDB4|Q9NVS4	Missense_Mutation	SNP	PatternScan_ZF_RING_1,superfamily_SSF57850	p.K450N	ENST00000309993.2	37	c.1350	CCDS33861.1	3	.	.	.	.	.	.	.	.	.	.	C	13.93	2.383148	0.42207	.	.	ENSG00000174579	ENST00000309993;ENST00000434835	.	.	.	5.86	5.86	0.93980	.	0.047807	0.85682	D	0.000000	T	0.70081	0.3183	M	0.67953	2.075	0.49915	D	0.999836	D	0.76494	0.999	D	0.69479	0.964	T	0.72023	-0.4415	9	0.62326	D	0.03	-6.9403	8.6104	0.33800	0.0:0.839:0.0:0.161	.	450	Q9HCI7	MSL2_HUMAN	N	450;376	.	ENSP00000311827:K450N	K	-	3	2	MSL2	137353063	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.475000	0.60210	2.771000	0.95319	0.563000	0.77884	AAG	-	NULL		0.423	MSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSL2	protein_coding	OTTHUMT00000357347.1	C	NM_018133		137353063	-1	no_errors	NM_018133	genbank	human	validated	54_36p	missense	SNP	1.000	G
PCDHB18	54660	genome.wustl.edu	37	5	140615240	140615240	+	RNA	SNP	G	G	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr5:140615240G>A	ENST00000526308.1	+	0	1303					NR_001281.1		Q96TA0	PCDBI_HUMAN	protocadherin beta 18 pseudogene						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						CAGCATACGAGACCAAGACGC	0.478																																																0			5																																								140595424			54660			AF152528		5q31.3	2014-03-20			ENSG00000146001	ENSG00000146001		"""Cadherins / Protocadherins : Clustered"""	14548	pseudogene	pseudogene						10380929	Standard	NR_001281		Approved	PCDH-psi2	uc003ljc.1	Q96TA0	OTTHUMG00000167484		5.37:g.140615240G>A			140595424	B3KTF8	Missense_Mutation	SNP	HMMPfam_Cadherin_2,PatternScan_CADHERIN_1,superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA	p.D319N	ENST00000526308.1	37	c.955		5																																																																																			-	superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA		0.478	PCDHB18-002	KNOWN	basic	processed_transcript	PCDHB18	pseudogene	OTTHUMT00000394776.1	G			140595424	+1	no_errors	ENST00000274705	ensembl	human	known	54_36p	missense	SNP	0.936	A
SLITRK4	139065	genome.wustl.edu	37	X	142717105	142717105	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chrX:142717105A>G	ENST00000381779.4	-	2	2045	c.1820T>C	c.(1819-1821)aTt>aCt	p.I607T	SLITRK4_ENST00000356928.1_Missense_Mutation_p.I607T|SLITRK4_ENST00000338017.4_Missense_Mutation_p.I607T	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	607						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					AGGACTTCGAATGGGACCCAA	0.428																																																0			X											87.0	90.0	89.0					X																	142717105		2202	4300	6502	142544771	SO:0001583	missense	139065			BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.1820T>C	X.37:g.142717105A>G	ENSP00000371198:p.Ile607Thr		142544771	Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00365,HMMSmart_SM00082,HMMPfam_LRRNT	p.I607T	ENST00000381779.4	37	c.1820	CCDS14679.1	X	.	.	.	.	.	.	.	.	.	.	A	1.218	-0.627785	0.03610	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.52526	0.66;0.66;0.66	5.49	5.49	0.81192	.	0.189279	0.45867	U	0.000330	T	0.28267	0.0698	N	0.12182	0.205	0.40543	D	0.981042	B	0.06786	0.001	B	0.06405	0.002	T	0.13926	-1.0491	10	0.10902	T	0.67	-9.2383	13.3335	0.60503	1.0:0.0:0.0:0.0	.	607	Q8IW52	SLIK4_HUMAN	T	607	ENSP00000371198:I607T;ENSP00000349400:I607T;ENSP00000336627:I607T	ENSP00000336627:I607T	I	-	2	0	SLITRK4	142544771	0.995000	0.38212	1.000000	0.80357	0.996000	0.88848	4.532000	0.60608	1.831000	0.53308	0.486000	0.48141	ATT	-	NULL		0.428	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK4	protein_coding	OTTHUMT00000058617.1	A	NM_173078		142544771	-1	no_errors	NM_173078	genbank	human	validated	54_36p	missense	SNP	1.000	G
Unknown	0	genome.wustl.edu	37	1	148903306	148903306	+	IGR	SNP	C	C	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr1:148903306C>A								RP11-763B22.6 (49589 upstream) : RNA5SP59 (9966 downstream)																							ACTGCATGGTCCCTTTCTGCA	0.567																																																0			1																																								147169930	SO:0001628	intergenic_variant	0																															1.37:g.148903306C>A			147169930		Silent	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1	p.V115		37	c.345		1																																																																																			-	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1	0	0.567					DRD5P2			C			147169930	+1	no_start_codon:no_stop_codon	ENST00000331689	ensembl	human	known	54_36p	silent	SNP	0.996	A
FAM91A3P	729182	genome.wustl.edu	37	1	149263606	149263606	+	lincRNA	SNP	G	G	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr1:149263606G>A	ENST00000325963.8	+	0	3153																											TGCTTTCACAGTCATCGTATG	0.408																																																0			1																																								147530230			0																															1.37:g.149263606G>A			147530230		Silent	SNP	NULL	p.D70	ENST00000325963.8	37	c.210		1																																																																																			-	NULL		0.408	RP11-403I13.4-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	LOC100131974	lincRNA	OTTHUMT00000099551.1	G			147530230	-1	no_errors	XM_001723598	genbank	human	model	54_36p	silent	SNP	0.876	A
S100A11	6282	genome.wustl.edu	37	1	152005226	152005226	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr1:152005226A>T	ENST00000271638.2	-	3	349	c.230T>A	c.(229-231)tTc>tAc	p.F77Y	NBPF18P_ENST00000432386.1_RNA|S100A11_ENST00000478109.1_5'UTR	NM_005620.1	NP_005611.1	P31949	S10AB_HUMAN	S100 calcium binding protein A11	77	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)|S100 protein binding (GO:0044548)			large_intestine(1)|lung(1)|prostate(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			AAATTCTGAGAAATCTAGCTG	0.488																																					Colon(152;1751 1834 12462 21158 46902)											0			1											72.0	69.0	70.0					1																	152005226		2203	4300	6503	150271850	SO:0001583	missense	6282			D38583	CCDS1009.1	1q21	2013-01-10	2006-09-11		ENSG00000163191	ENSG00000163191		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10488	protein-coding gene	gene with protein product		603114	"""S100 calcium-binding protein A11 (calgizzarin)"", ""S100 calcium binding protein A11 (calgizzarin)"""			8985590	Standard	NM_005620		Approved	S100C	uc001ezn.3	P31949	OTTHUMG00000013069	ENST00000271638.2:c.230T>A	1.37:g.152005226A>T	ENSP00000271638:p.Phe77Tyr		150271850	Q5VTK0	Missense_Mutation	SNP	superfamily_SSF47473,HMMPfam_S_100,HMMPfam_efhand,PatternScan_S100_CABP,PatternScan_EF_HAND_1	p.F77Y	ENST00000271638.2	37	c.230	CCDS1009.1	1	.	.	.	.	.	.	.	.	.	.	A	15.49	2.850522	0.51270	.	.	ENSG00000163191	ENST00000271638	T	0.11604	2.76	4.98	4.98	0.66077	S100/Calbindin-D9k, conserved site (1);EF-hand-like domain (1);	0.000000	0.64402	D	0.000008	T	0.24547	0.0595	M	0.83223	2.63	0.47341	D	0.999399	D	0.76494	0.999	D	0.74023	0.982	T	0.03095	-1.1073	10	0.87932	D	0	.	11.3278	0.49458	1.0:0.0:0.0:0.0	.	77	P31949	S10AB_HUMAN	Y	77	ENSP00000271638:F77Y	ENSP00000271638:F77Y	F	-	2	0	S100A11	150271850	1.000000	0.71417	1.000000	0.80357	0.029000	0.11900	6.135000	0.71696	1.998000	0.58463	0.402000	0.26972	TTC	-	superfamily_SSF47473,HMMPfam_efhand,PatternScan_S100_CABP,PatternScan_EF_HAND_1		0.488	S100A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S100A11	protein_coding	OTTHUMT00000036676.1	A	NM_005620		150271850	-1	no_errors	NM_005620	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
RHEB	6009	genome.wustl.edu	37	7	151181856	151181856	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr7:151181856T>A	ENST00000262187.5	-	3	571	c.159A>T	c.(157-159)gaA>gaT	p.E53D	RHEB_ENST00000496004.1_5'UTR|RHEB_ENST00000472642.1_5'UTR	NM_005614.3	NP_005605.1	Q15382	RHEB_HUMAN	Ras homolog enriched in brain	53					cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|positive regulation of TOR signaling (GO:0032008)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|spliceosomal complex (GO:0005681)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)	14			OV - Ovarian serous cystadenocarcinoma(82;0.00306)	UCEC - Uterine corpus endometrioid carcinoma (81;0.174)		GAAGATGATATTCTTGTCCAT	0.363																																					Pancreas(98;671 892 8111 15140 36556 39178 39939 44184)											0			7											101.0	92.0	95.0					7																	151181856		2203	4300	6503	150812789	SO:0001583	missense	6009			D78132	CCDS5927.1	7q36	2014-05-09	2003-07-14	2003-07-14	ENSG00000106615	ENSG00000106615			10011	protein-coding gene	gene with protein product		601293	"""Ras homolog enriched in brain 2"""	RHEB2		8661031	Standard	NM_005614		Approved		uc003wkh.1	Q15382	OTTHUMG00000157330	ENST00000262187.5:c.159A>T	7.37:g.151181856T>A	ENSP00000262187:p.Glu53Asp		150812789	B3KWN6|D3DX13|Q53Y56|Q99444	Missense_Mutation	SNP	HMMSmart_RAS,superfamily_SSF52540,HMMPfam_Ras	p.E53D	ENST00000262187.5	37	c.159	CCDS5927.1	7	.	.	.	.	.	.	.	.	.	.	T	10.67	1.416111	0.25552	.	.	ENSG00000106615	ENST00000262187	T	0.77489	-1.1	5.24	-2.62	0.06152	Small GTP-binding protein domain (1);	0.055838	0.64402	D	0.000002	T	0.55737	0.1939	N	0.25789	0.76	0.80722	D	1	B	0.09022	0.002	B	0.12837	0.008	T	0.16247	-1.0409	10	0.18276	T	0.48	.	5.9686	0.19338	0.1258:0.3226:0.0:0.5516	.	53	Q15382	RHEB_HUMAN	D	53	ENSP00000262187:E53D	ENSP00000262187:E53D	E	-	3	2	RHEB	150812789	0.928000	0.31464	0.996000	0.52242	0.998000	0.95712	-0.069000	0.11542	-0.206000	0.10203	0.477000	0.44152	GAA	-	HMMSmart_RAS,superfamily_SSF52540,HMMPfam_Ras		0.363	RHEB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHEB	protein_coding	OTTHUMT00000348468.2	T	NM_005614		150812789	-1	no_errors	NM_005614	genbank	human	reviewed	54_36p	missense	SNP	0.998	A
UBAP2L	9898	genome.wustl.edu	37	1	154228196	154228196	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr1:154228196A>G	ENST00000361546.2	+	17	2164	c.2122A>G	c.(2122-2124)Aca>Gca	p.T708A	UBAP2L_ENST00000343815.6_Missense_Mutation_p.T708A|UBAP2L_ENST00000428931.1_Missense_Mutation_p.T708A|AL590431.1_ENST00000517008.1_RNA|UBAP2L_ENST00000271877.7_Missense_Mutation_p.T719A			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	708					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TTCATCATCAACATCTTCTGG	0.453																																																0			1											233.0	206.0	215.0					1																	154228196		2203	4300	6503	152494820	SO:0001583	missense	9898			BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.2122A>G	1.37:g.154228196A>G	ENSP00000355343:p.Thr708Ala		152494820	B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	HMMPfam_UBA,HMMSmart_SM00165	p.T708A	ENST00000361546.2	37	c.2122	CCDS1063.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.775|8.775	0.926780|0.926780	0.18056|0.18056	.|.	.|.	ENSG00000143569|ENSG00000143569	ENST00000433615|ENST00000343815;ENST00000428931;ENST00000456955;ENST00000433006;ENST00000271877;ENST00000361546	.|T;T;T;T	.|0.35048	.|1.33;1.33;1.33;1.33	5.58|5.58	4.34|4.34	0.51931|0.51931	.|.	.|0.407124	.|0.24815	.|N	.|0.035368	T|T	0.09992|0.09992	0.0245|0.0245	N|N	0.19112|0.19112	0.55|0.55	0.29082|0.29082	N|N	0.882658|0.882658	.|B;B;B;B;B	.|0.26147	.|0.055;0.143;0.143;0.143;0.088	.|B;B;B;B;B	.|0.24155	.|0.023;0.051;0.051;0.051;0.014	T|T	0.12477|0.12477	-1.0546|-1.0546	5|10	.|0.21014	.|T	.|0.42	-4.8001|-4.8001	12.2677|12.2677	0.54686|0.54686	0.8643:0.0:0.0:0.1357|0.8643:0.0:0.0:0.1357	.|.	.|622;719;701;708;708	.|B4DZJ6;F8W726;Q14157-4;Q14157-1;Q14157	.|.;.;.;.;UBP2L_HUMAN	S|A	38|708;708;204;204;719;708	.|ENSP00000345308:T708A;ENSP00000389445:T708A;ENSP00000271877:T719A;ENSP00000355343:T708A	.|ENSP00000271877:T719A	N|T	+|+	2|1	0|0	UBAP2L|UBAP2L	152494820|152494820	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	2.269000|2.269000	0.43346|0.43346	2.122000|2.122000	0.65172|0.65172	0.533000|0.533000	0.62120|0.62120	AAC|ACA	-	NULL		0.453	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP2L	protein_coding	OTTHUMT00000087673.1	A	NM_014847		152494820	+1	no_errors	NM_014847	genbank	human	validated	54_36p	missense	SNP	0.999	G
FGA	2243	genome.wustl.edu	37	4	155505609	155505609	+	Silent	SNP	G	G	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr4:155505609G>T	ENST00000302053.3	-	6	2346	c.2268C>A	c.(2266-2268)tcC>tcA	p.S756S		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	756	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CTTCATAGGAGGAGACTTGGA	0.512																																					NSCLC(143;340 1922 20892 22370 48145)											0			4											131.0	127.0	128.0					4																	155505609		2203	4300	6503	155725059	SO:0001819	synonymous_variant	2243				CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.2268C>A	4.37:g.155505609G>T			155725059	A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Silent	SNP	HMMPfam_Fib_alpha,superfamily_Fibrinogen C-terminal domain-like,HMMSmart_SM00186,HMMPfam_Fibrinogen_C,PatternScan_FIBRIN_AG_C_DOMAIN	p.S756	ENST00000302053.3	37	c.2268	CCDS3787.1	4																																																																																			-	superfamily_Fibrinogen C-terminal domain-like,HMMSmart_SM00186,HMMPfam_Fibrinogen_C		0.512	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FGA	protein_coding	OTTHUMT00000317593.1	G	NM_000508		155725059	-1	no_errors	NM_000508	genbank	human	reviewed	54_36p	silent	SNP	0.910	T
SLC4A10	57282	genome.wustl.edu	37	2	162415108	162415108	+	RNA	SNP	T	T	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr2:162415108T>A	ENST00000458927.1	+	0	55																											atgtgtgaaatgtgccaccct	0.353																																																0			2																																								162123354			0																															2.37:g.162415108T>A			162123354		RNA	SNP	-	NULL	ENST00000458927.1	37	NULL		2																																																																																			-	-		0.353	snoU13.139-201	NOVEL	basic	snoRNA	ENSG00000208216	snoRNA		T			162123354	+1	pseudogene	ENST00000385481	ensembl	human	novel	54_36p	rna	SNP	0.024	A
FMO4	2329	genome.wustl.edu	37	1	171303865	171303865	+	Silent	SNP	A	A	G			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr1:171303865A>G	ENST00000367749.3	+	8	1473	c.1143A>G	c.(1141-1143)acA>acG	p.T381T		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	381					drug catabolic process (GO:0042737)	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)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TATCAGGCACAGAGCTCCAAG	0.443																																					Pancreas(24;816 862 7754 7993 32832)											0			1											61.0	60.0	61.0					1																	171303865		2203	4300	6503	169570489	SO:0001819	synonymous_variant	2329			BC002780	CCDS1295.1	1q24.3	2011-08-04			ENSG00000076258	ENSG00000076258	1.14.13.8		3772	protein-coding gene	gene with protein product		136131		FMO2		8311461	Standard	NM_002022		Approved		uc001gho.3	P31512	OTTHUMG00000035506	ENST00000367749.3:c.1143A>G	1.37:g.171303865A>G			169570489	Q53XR0	Silent	SNP	superfamily_FAD/NAD(P)-binding domain,HMMPfam_FMO-like	p.T381	ENST00000367749.3	37	c.1143	CCDS1295.1	1																																																																																			-	HMMPfam_FMO-like		0.443	FMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO4	protein_coding	OTTHUMT00000086223.1	A	NM_002022		169570489	+1	no_errors	NM_002022	genbank	human	reviewed	54_36p	silent	SNP	0.970	G
SH3PXD2B	285590	genome.wustl.edu	37	5	171766348	171766348	+	Silent	SNP	C	C	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr5:171766348C>A	ENST00000311601.5	-	13	1931	c.1761G>T	c.(1759-1761)ctG>ctT	p.L587L	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	587					adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCAGCTGGAACAGTCTGCTTT	0.567																																																0			5											66.0	77.0	73.0					5																	171766348		2203	4300	6503	171698953	SO:0001819	synonymous_variant	285590			AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"""KIAA1295"""	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.1761G>T	5.37:g.171766348C>A			171698953	B6F0V2|Q9P2Q1	Silent	SNP	superfamily_PX,HMMPfam_PX,HMMSmart_PX,superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3	p.L587	ENST00000311601.5	37	c.1761	CCDS34291.1	5																																																																																			-	NULL		0.567	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3PXD2B	protein_coding	OTTHUMT00000372449.1	C	NM_017963		171698953	-1	no_errors	NM_001017995	genbank	human	validated	54_36p	silent	SNP	0.937	A
HRH2	3274	genome.wustl.edu	37	5	175110249	175110249	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr5:175110249G>T	ENST00000231683.2	+	1	1786	c.13G>T	c.(13-15)Ggc>Tgc	p.G5C	HRH2_ENST00000377291.2_Missense_Mutation_p.G5C	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	5					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	GGCACCCAATGGCACAGCCTC	0.567																																																0			5											172.0	162.0	166.0					5																	175110249		2203	4300	6503	175042855	SO:0001583	missense	3274				CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"""GPCR / Class A : Histamine receptors"""	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.13G>T	5.37:g.175110249G>T	ENSP00000231683:p.Gly5Cys		175042855	B5BUP7|Q14464|Q7Z5R9	Missense_Mutation	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.G5C	ENST00000231683.2	37	c.13	CCDS4395.1	5	.	.	.	.	.	.	.	.	.	.	G	15.26	2.780514	0.49891	.	.	ENSG00000113749	ENST00000377291;ENST00000231683	T;T	0.64991	-0.13;-0.1	3.59	1.81	0.25067	.	0.735756	0.11754	N	0.532768	T	0.45597	0.1350	N	0.08118	0	0.24615	N	0.993707	P;D	0.59767	0.698;0.986	B;P	0.49708	0.241;0.62	T	0.31081	-0.9956	10	0.62326	D	0.03	.	5.4068	0.16326	0.3567:0.0:0.6433:0.0	.	5;5	P25021;Q7Z5R9	HRH2_HUMAN;.	C	5	ENSP00000366506:G5C;ENSP00000231683:G5C	ENSP00000231683:G5C	G	+	1	0	HRH2	175042855	0.000000	0.05858	0.053000	0.19242	0.256000	0.26092	-0.426000	0.07008	0.525000	0.28522	0.462000	0.41574	GGC	-	NULL		0.567	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HRH2	protein_coding	OTTHUMT00000253151.1	G			175042855	+1	no_errors	NM_022304	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
PDE11A	50940	genome.wustl.edu	37	2	178684975	178684975	+	Silent	SNP	A	A	G			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr2:178684975A>G	ENST00000286063.6	-	7	1865	c.1548T>C	c.(1546-1548)ccT>ccC	p.P516P	PDE11A_ENST00000358450.4_Silent_p.P266P|PDE11A_ENST00000389683.3_Silent_p.P72P|PDE11A_ENST00000449286.2_Silent_p.P158P|PDE11A_ENST00000409504.1_Silent_p.P158P|PDE11A_ENST00000497003.1_5'UTR	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	516	GAF 2.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	TATTCCAAATAGGGACACAAA	0.299									Primary Pigmented Nodular Adrenocortical Disease, Familial																																							0			2											74.0	79.0	77.0					2																	178684975		2203	4300	6503	178393221	SO:0001819	synonymous_variant	50940	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.1548T>C	2.37:g.178684975A>G			178393221	Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Silent	SNP	superfamily_GAF domain-like,HMMPfam_GAF,HMMSmart_SM00065,superfamily_HD-domain/PDEase-like,HMMSmart_SM00471,HMMPfam_PDEase_I,PatternScan_PDEASE_I	p.P516	ENST00000286063.6	37	c.1548	CCDS33334.1	2	.	.	.	.	.	.	.	.	.	.	A	10.10	1.258133	0.23051	.	.	ENSG00000128655	ENST00000433879	.	.	.	5.75	1.94	0.25998	.	.	.	.	.	T	0.54415	0.1857	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41875	-0.9484	4	.	.	.	.	6.8813	0.24174	0.7445:0.1305:0.125:0.0	.	.	.	.	P	155	.	.	L	-	2	0	PDE11A	178393221	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.951000	0.40333	0.091000	0.17302	0.533000	0.62120	CTA	-	HMMPfam_GAF,HMMSmart_SM00065,superfamily_GAF domain-like		0.299	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE11A	protein_coding	OTTHUMT00000334313.2	A			178393221	-1	no_errors	NM_016953	genbank	human	reviewed	54_36p	silent	SNP	1.000	G
DHX9	1660	genome.wustl.edu	37	1	182852300	182852300	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr1:182852300A>G	ENST00000367549.3	+	25	3051	c.2941A>G	c.(2941-2943)Aac>Gac	p.N981D	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	981					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AGTGTTTACTAACACTGGACC	0.378																																					Colon(69;210 1162 3697 13559 39565)											0			1											153.0	130.0	138.0					1																	182852300		1877	4112	5989	181118923	SO:0001583	missense	1660			L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.2941A>G	1.37:g.182852300A>G	ENSP00000356520:p.Asn981Asp		181118923	B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	superfamily_dsRNA-binding domain-like,HMMPfam_dsrm,HMMSmart_SM00358,HMMSmart_SM00487,HMMPfam_DEAD,superfamily_P-loop containing nucleoside triphosphate hydrolases,PatternScan_DEAH_ATP_HELICASE,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_HA2,HMMPfam_DUF1605	p.N981D	ENST00000367549.3	37	c.2941	CCDS41444.1	1	.	.	.	.	.	.	.	.	.	.	A	17.71	3.457630	0.63401	.	.	ENSG00000135829	ENST00000367549	T	0.03982	3.74	5.2	5.2	0.72013	Domain of unknown function DUF1605 (1);	0.053759	0.64402	D	0.000001	T	0.07954	0.0199	L	0.59436	1.845	0.48288	D	0.999622	B;P	0.41188	0.27;0.741	B;B	0.38755	0.281;0.216	T	0.12760	-1.0535	10	0.46703	T	0.11	.	15.0638	0.71977	1.0:0.0:0.0:0.0	.	260;981	B3KU66;Q08211	.;DHX9_HUMAN	D	981	ENSP00000356520:N981D	ENSP00000356520:N981D	N	+	1	0	DHX9	181118923	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.905000	0.75714	1.944000	0.56390	0.460000	0.39030	AAC	-	HMMPfam_DUF1605		0.378	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX9	protein_coding	OTTHUMT00000085522.2	A	NM_030588		181118923	+1	no_errors	NM_001357	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
PRG4	10216	genome.wustl.edu	37	1	186276052	186276052	+	Missense_Mutation	SNP	A	A	C	rs542620960	byFrequency	TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr1:186276052A>C	ENST00000445192.2	+	7	1246	c.1201A>C	c.(1201-1203)Acc>Ccc	p.T401P	PRG4_ENST00000367485.4_Missense_Mutation_p.T308P|PRG4_ENST00000367486.3_Missense_Mutation_p.T358P|PRG4_ENST00000367483.4_Missense_Mutation_p.T360P|PRG4_ENST00000367484.3_Missense_Mutation_p.T360P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	401	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.T401P(4)|p.T400>?(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCACCACCACCAAGGAGCC	0.642													-|||	12	0.00239617	0.0083	0.0014	5008	,	,		8994	0.0		0.0	False		,,,				2504	0.0															5	Substitution - Missense(4)|Complex(1)	kidney(2)|prostate(1)|lung(1)|endometrium(1)	1											95.0	89.0	91.0					1																	186276052		2203	4298	6501	184542675	SO:0001583	missense	10216			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1201A>C	1.37:g.186276052A>C	ENSP00000399679:p.Thr401Pro		184542675	Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	HMMSmart_SM00201,HMMPfam_Somatomedin_B,superfamily_Somatomedin B domain,PatternScan_SMB_1,superfamily_Hemopexin-like domain,HMMPfam_Hemopexin,HMMSmart_SM00120,PatternScan_HEMOPEXIN	p.T401P	ENST00000445192.2	37	c.1201	CCDS1369.1	1	.	.	.	.	.	.	.	.	.	.	-	3.851	-0.031771	0.07543	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.05258	3.54;3.65;3.61;3.47;3.64	3.17	-6.34	0.01982	.	.	.	.	.	T	0.02649	0.0080	N	0.13140	0.3	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.0;0.001	B;B;B;B	0.06405	0.002;0.002;0.001;0.002	T	0.46034	-0.9220	8	.	.	.	.	3.639	0.08160	0.4008:0.398:0.0956:0.1055	.	267;308;401;360	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	P	358;360;267;360;308;401	ENSP00000356456:T358P;ENSP00000356454:T360P;ENSP00000356453:T360P;ENSP00000356455:T308P;ENSP00000399679:T401P	.	T	+	1	0	PRG4	184542675	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.209000	0.09358	-1.096000	0.03046	-2.716000	0.00133	ACC	-	NULL		0.642	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRG4	protein_coding	OTTHUMT00000086346.1	A	NM_005807		184542675	+1	no_errors	NM_005807	genbank	human	reviewed	54_36p	missense	SNP	0.297	C
SORBS2	8470	genome.wustl.edu	37	4	186544515	186544515	+	Nonsense_Mutation	SNP	T	T	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr4:186544515T>A	ENST00000284776.7	-	13	2565	c.2056A>T	c.(2056-2058)Aga>Tga	p.R686*	SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000418609.1_Nonsense_Mutation_p.R590*|SORBS2_ENST00000431808.1_Nonsense_Mutation_p.R686*|SORBS2_ENST00000355634.5_Nonsense_Mutation_p.R786*	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	686					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TCTTGCCTTCTGGGCTCCTCG	0.493																																					Esophageal Squamous(153;41 2433 9491 36028)											0			4											129.0	139.0	136.0					4																	186544515		2203	4298	6501	186781509	SO:0001587	stop_gained	8470				CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.2056A>T	4.37:g.186544515T>A	ENSP00000284776:p.Arg686*		186781509	A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Nonsense_Mutation	SNP	HMMPfam_Sorb,HMMSmart_SM00459,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326	p.R686*	ENST00000284776.7	37	c.2056	CCDS3845.1	4	.	.	.	.	.	.	.	.	.	.	T	34	5.395483	0.96009	.	.	ENSG00000154556	ENST00000284776;ENST00000431808;ENST00000418609;ENST00000355634	.	.	.	5.88	-1.64	0.08318	.	0.330479	0.35870	N	0.002931	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.9215	7.9491	0.30003	0.0:0.1285:0.4867:0.3847	.	.	.	.	X	686;686;590;786	.	ENSP00000284776:R686X	R	-	1	2	SORBS2	186781509	0.001000	0.12720	0.725000	0.30721	0.032000	0.12392	0.305000	0.19254	-0.119000	0.11830	-0.379000	0.06801	AGA	-	NULL		0.493	SORBS2-001	KNOWN	basic|CCDS	protein_coding	SORBS2	protein_coding	OTTHUMT00000347944.3	T	NM_003603		186781509	-1	no_errors	NM_021069	genbank	human	reviewed	54_36p	nonsense	SNP	0.024	A
OBSL1	23363	genome.wustl.edu	37	2	220432567	220432567	+	Silent	SNP	C	C	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr2:220432567C>T	ENST00000404537.1	-	3	1463	c.1407G>A	c.(1405-1407)ccG>ccA	p.P469P	OBSL1_ENST00000289656.3_Silent_p.P56P|OBSL1_ENST00000373876.1_Silent_p.P469P|OBSL1_ENST00000603926.1_Silent_p.P469P|OBSL1_ENST00000491370.1_5'Flank|OBSL1_ENST00000265318.4_Silent_p.P469P|OBSL1_ENST00000373873.4_Silent_p.P469P	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	469					cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GGCAGATGACCGGCAGCTCCT	0.632																																																0			2											44.0	49.0	47.0					2																	220432567		2152	4258	6410	220140811	SO:0001819	synonymous_variant	23363			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.1407G>A	2.37:g.220432567C>T			220140811	A4KVA4|A4KVA5|Q96IW3|S4R3M6	Silent	SNP	superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2,HMMSmart_IG,HMMPfam_ig,HMMPfam_fn3,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_V-set	p.P469	ENST00000404537.1	37	c.1407	CCDS46520.1	2																																																																																			-	superfamily_SSF48726,HMMSmart_IG		0.632	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	OBSL1	protein_coding	OTTHUMT00000322012.1	C			220140811	-1	no_errors	NM_015311	genbank	human	provisional	54_36p	silent	SNP	0.078	T
NUP133	55746	genome.wustl.edu	37	1	229594042	229594042	+	Splice_Site	SNP	G	G	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr1:229594042G>T	ENST00000261396.3	-	21	2937	c.2846C>A	c.(2845-2847)gCt>gAt	p.A949D	NUP133_ENST00000537506.1_Splice_Site_p.A933D	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	949					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				TGTTGCATGAGCCTACAATAA	0.398																																																0			1											81.0	75.0	77.0					1																	229594042		2203	4300	6503	227660665	SO:0001630	splice_region_variant	55746				CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.2845-1C>A	1.37:g.229594042G>T			227660665	B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	SNP	HMMPfam_Nup133_N,HMMPfam_Nup133	p.A949D	ENST00000261396.3	37	c.2846	CCDS1579.1	1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.962560	0.92791	.	.	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506	T;T;T	0.69040	-0.37;0.6;-0.35	5.68	5.68	0.88126	Nucleoporin, Nup133/Nup155-like, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84257	0.5432	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85845	0.1400	10	0.87932	D	0	-18.3772	19.7864	0.96440	0.0:0.0:1.0:0.0	.	949	Q8WUM0	NU133_HUMAN	D	878;949;878;933	ENSP00000261396:A949D;ENSP00000355640:A878D;ENSP00000443496:A933D	ENSP00000261396:A949D	A	-	2	0	NUP133	227660665	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.136000	0.94489	2.675000	0.91044	0.467000	0.42956	GCT	-	HMMPfam_Nup133		0.398	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP133	protein_coding	OTTHUMT00000095224.1	G	NM_018230	Missense_Mutation	227660665	-1	no_errors	NM_018230	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
TTC13	79573	genome.wustl.edu	37	1	231042667	231042667	+	Missense_Mutation	SNP	C	C	G	rs371809409		TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr1:231042667C>G	ENST00000366661.4	-	23	2574	c.2567G>C	c.(2566-2568)tGt>tCt	p.C856S	TTC13_ENST00000366662.4_Missense_Mutation_p.C802S|TTC13_ENST00000414259.1_Missense_Mutation_p.C803S	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	856										central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TTTCTTAAGACAACGTGGAGA	0.353																																																0			1											88.0	87.0	87.0					1																	231042667		2203	4300	6503	229109290	SO:0001583	missense	79573				CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"""Tetratricopeptide (TTC) repeat domain containing"""	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.2567G>C	1.37:g.231042667C>G	ENSP00000355621:p.Cys856Ser		229109290	B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Missense_Mutation	SNP	HMMSmart_SM00028,superfamily_TPR-like,HMMPfam_TPR_1,HMMPfam_TPR_2	p.C856S	ENST00000366661.4	37	c.2567	CCDS1588.1	1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.819468	0.90873	.	.	ENSG00000143643	ENST00000366661;ENST00000366662;ENST00000414259	T;T;T	0.69306	-0.39;-0.01;-0.01	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.78084	0.4228	L	0.44542	1.39	0.80722	D	1	D;D;D	0.76494	0.993;0.996;0.999	D;D;D	0.80764	0.977;0.99;0.994	T	0.79356	-0.1837	10	0.87932	D	0	-15.3395	19.5831	0.95478	0.0:1.0:0.0:0.0	.	803;802;856	E9PGV4;Q8NBP0-2;Q8NBP0	.;.;TTC13_HUMAN	S	856;802;803	ENSP00000355621:C856S;ENSP00000355622:C802S;ENSP00000416631:C803S	ENSP00000355621:C856S	C	-	2	0	TTC13	229109290	1.000000	0.71417	0.993000	0.49108	0.971000	0.66376	7.002000	0.76304	2.641000	0.89580	0.563000	0.77884	TGT	-	NULL		0.353	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC13	protein_coding	OTTHUMT00000092229.2	C	NM_024525		229109290	-1	no_errors	NM_024525	genbank	human	validated	54_36p	missense	SNP	1.000	G
SP140	11262	genome.wustl.edu	37	2	231134656	231134656	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr2:231134656T>A	ENST00000392045.3	+	14	1546	c.1432T>A	c.(1432-1434)Tgt>Agt	p.C478S	SP140_ENST00000350136.5_Missense_Mutation_p.C347S|SP140_ENST00000486687.2_Missense_Mutation_p.C402S|SP140_ENST00000343805.6_Missense_Mutation_p.C418S|SP140_ENST00000420434.3_Missense_Mutation_p.C451S|SP140_ENST00000417495.3_Missense_Mutation_p.C364S	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	478					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TGATCAAGCGTGTGGCACAAT	0.562																																																0			2											83.0	88.0	86.0					2																	231134656		2049	4216	6265	230842900	SO:0001583	missense	11262			U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"""Zinc fingers, PHD-type"""	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.1432T>A	2.37:g.231134656T>A	ENSP00000375899:p.Cys478Ser		230842900	E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	HMMPfam_Sp100,superfamily_SAND domain-like,HMMPfam_SAND,HMMSmart_SM00258,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain	p.C478S	ENST00000392045.3	37	c.1432	CCDS42831.1	2	.	.	.	.	.	.	.	.	.	.	T	0.652	-0.809038	0.02819	.	.	ENSG00000079263	ENST00000486687;ENST00000350136;ENST00000392045;ENST00000417495;ENST00000343805;ENST00000420434	T;T;T;T;T	0.49432	0.91;1.15;0.99;0.78;1.06	3.43	-6.86	0.01676	.	.	.	.	.	T	0.40473	0.1118	N	0.25201	0.72	0.09310	N	1	D;B;D;B	0.53885	0.963;0.003;0.96;0.003	B;B;D;B	0.66351	0.444;0.001;0.943;0.001	T	0.33599	-0.9862	9	0.13853	T	0.58	.	5.3264	0.15908	0.0901:0.3596:0.4157:0.1346	.	451;364;418;478	E7EUR5;E7ESH9;E9PFJ6;Q13342	.;.;.;LY10_HUMAN	S	402;347;478;364;418;451	ENSP00000440107:C402S;ENSP00000345846:C347S;ENSP00000375899:C478S;ENSP00000342096:C418S;ENSP00000398210:C451S	ENSP00000342096:C418S	C	+	1	0	SP140	230842900	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.624000	0.02038	-3.657000	0.00125	-1.258000	0.01471	TGT	-	NULL		0.562	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SP140	protein_coding	OTTHUMT00000332015.1	T	NM_007237		230842900	+1	no_errors	NM_007237	genbank	human	validated	54_36p	missense	SNP	0.000	A
TOMM20	9804	genome.wustl.edu	37	1	235291213	235291213	+	Intron	SNP	G	G	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr1:235291213G>T	ENST00000366607.4	-	1	342				SNORA14B_ENST00000384452.1_RNA	NM_014765.2	NP_055580.1	Q15388	TOM20_HUMAN	translocase of outer mitochondrial membrane 20 homolog (yeast)						cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	ER-mitochondrion membrane contact site (GO:0044233)|integral component of membrane (GO:0016021)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)|unfolded protein binding (GO:0051082)			lung(2)|prostate(1)	3	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;6.33e-05)|Epithelial(3;8.26e-05)			TATCTTGGAAGCACTTAGAAC	0.483																																																0			1											100.0	101.0	101.0					1																	235291213		876	1991	2867	233357836	SO:0001627	intron_variant	677802				CCDS1603.1	1q42	2008-07-18			ENSG00000173726	ENSG00000173726			20947	protein-coding gene	gene with protein product	"""translocase of outer mitochondrial membrane 20 homolog type II"""	601848				7498524, 7589431, 15733919	Standard	NM_014765		Approved	KIAA0016, TOM20, MOM19, MAS20	uc001hwl.3	Q15388	OTTHUMG00000039619	ENST00000366607.4:c.121+696C>A	1.37:g.235291213G>T			233357836	A8K195|Q498B3|Q6IBT4	RNA	SNP	-	NULL	ENST00000366607.4	37	NULL	CCDS1603.1	1																																																																																			-	-		0.483	TOMM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNORA14B	protein_coding	OTTHUMT00000095551.1	G	NM_014765		233357836	-1	no_errors	NR_002956	genbank	human	reviewed	54_36p	rna	SNP	0.925	T
MUC16	94025	genome.wustl.edu	37	19	9084558	9084573	+	Frame_Shift_Del	DEL	TGTAGATGTGGGAACC	TGTAGATGTGGGAACC	-	rs547499517		TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	TGTAGATGTGGGAACC	TGTAGATGTGGGAACC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr19:9084558_9084573delTGTAGATGTGGGAACC	ENST00000397910.4	-	1	7445_7460	c.7242_7257delGGTTCCCACATCTACA	c.(7240-7257)caggttcccacatctacafs	p.QVPTST2414fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2414	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGTCTCTGTTGTAGATGTGGGAACCTGGGGTCTAT	0.491																																																0			19																																								8945573	SO:0001589	frameshift_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.7242_7257delGGTTCCCACATCTACA	19.37:g.9084558_9084573delTGTAGATGTGGGAACC	ENSP00000381008:p.Gln2414fs		8945558	Q6ZQW5|Q96RK2	Frame_Shift_Del	DEL	PatternScan_ATPASE_ALPHA_BETA,superfamily_SEA domain,HMMSmart_SM00200,HMMPfam_SEA	p.V2415fs	ENST00000397910.4	37	c.7257_7242	CCDS54212.1	19																																																																																			(deletion:cds_exon[8943340,8952814])	NULL		0.491	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	TGTAGATGTGGGAACC	NM_024690		8945573	-1	no_errors	NM_024690	genbank	human	validated	54_36p	frame_shift_del	DEL	0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000	-
MPHOSPH8	54737	genome.wustl.edu	37	13	20237171	20237209	+	Splice_Site	DEL	TTTTCATAGAACTTTTTAACAACAGTGGCTATTCTTTTG	TTTTCATAGAACTTTTTAACAACAGTGGCTATTCTTTTG	-	rs74926233|rs77797474		TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	TTTTCATAGAACTTTTTAACAACAGTGGCTATTCTTTTG	TTTTCATAGAACTTTTTAACAACAGTGGCTATTCTTTTG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr13:20237171_20237209delTTTTCATAGAACTTTTTAACAACAGTGGCTATTCTTTTG	ENST00000361479.5	+	9	2000_2030	c.1932_1962delTTTTCATAGAACTTTTTAACAACAGTGGCTATTCTTTTG	c.(1930-1962)aattttcatagaactttttaacaacagtggcta>aa	p.NFHRTF*QQWL644del	MPHOSPH8_ENST00000414242.2_Splice_Site_p.NFHRTF*QQWL644del	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	644					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		CCTTTTTTTCTTTTCATAGAACTTTTTAACAACAGTGGCTATTCTTTTGGAAGCAGGAG	0.36																																																0			13																																								19135209	SO:0001630	splice_region_variant	54737			AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"""Ankyrin repeat domain containing"""	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.1933-1TTTTCATAGAACTTTTTAACAACAGTGGCTATTCTTTTG>-	13.37:g.20237171_20237209delTTTTCATAGAACTTTTTAACAACAGTGGCTATTCTTTTG			19135171	B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Splice_Site	DEL	-	e9-1	ENST00000361479.5	37	c.1933-9_1933-1	CCDS9287.1	13																																																																																			(deletion:intron[19133979,19135179], cds_exon[19135180,19135266])	-		0.360	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPHOSPH8	protein_coding	OTTHUMT00000044028.2	TTTTCATAGAACTTTTTAACAACAGTGGCTATTCTTTTG	NM_017520	In_Frame_Del	19135209	+1	no_errors	NM_017520	genbank	human	provisional	54_36p	splice_site_del	DEL	0.701:0.830:0.850:0.848:0.593:0.576:0.541:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.993:1.000:1.000:1.000:0.996:0.021:0.981:0.986:0.837:1.000:1.000:1.000:1.000:1.000:0.996:1.000:1.000:1.000:1.000:1.000:0.998:0.999:1.000:1.000	-
Unknown	0	genome.wustl.edu	37	17	20657821	20657830	+	IGR	DEL	TTGGCTACGA	TTGGCTACGA	-			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	TTGGCTACGA	TTGGCTACGA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr17:20657821_20657830delTTGGCTACGA								AC126365.1 (28864 upstream) : RP11-283C24.1 (33553 downstream)																							GACTGCGCAGTTGGCTACGATTGGCTTGCG	0.457																																																0			17																																								20598422	SO:0001628	intergenic_variant	645294																															17.37:g.20657821_20657830delTTGGCTACGA			20598413		RNA	DEL	-	NULL		37	NULL		17																																																																																			(deletion:rna[20598053,20598488])	-	0	0.457					LOC645294			TTGGCTACGA			20598422	-1	pseudogene	XR_016910	genbank	human	model	54_36p	rna	DEL	0.846:0.909:0.918:0.917:0.931:0.951:0.952:0.956:0.965:0.983	-
STT3B	201595	genome.wustl.edu	37	3	31658422	31658445	+	Splice_Site	DEL	TGTCTTTGCATTGCTGCAAGCTTA	TGTCTTTGCATTGCTGCAAGCTTA	-			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	TGTCTTTGCATTGCTGCAAGCTTA	TGTCTTTGCATTGCTGCAAGCTTA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr3:31658422_31658445delTGTCTTTGCATTGCTGCAAGCTTA	ENST00000295770.2	+	7	1187_1210	c.978_1001delTGTCTTTGCATTGCTGCAAGCTTA	c.(976-1002)ggtgtctttgcattgctgcaagcttat>ggt	p.VFALLQAY327del	STT3B_ENST00000453168.1_3'UTR	NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	327					co-translational protein modification (GO:0043686)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						TTTAATTAGGTGTCTTTGCATTGCTGCAAGCTTATGCTTTCTTG	0.388																																																0			3																																								31633449	SO:0001630	splice_region_variant	201595			AK027789	CCDS2650.1	3p24.1	2013-03-06	2013-03-06		ENSG00000163527	ENSG00000163527	2.4.99.18		30611	protein-coding gene	gene with protein product	"""source of immunodominant MHC associated peptides"", ""dolichyl-diphosphooligosaccharide protein glycotransferase"""	608605	"""STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae)"""			12887896, 12439619	Standard	XM_006713017		Approved	SIMP, FLJ90106, STT3-B	uc011axe.2	Q8TCJ2	OTTHUMG00000130673	ENST00000295770.2:c.977-1TGTCTTTGCATTGCTGCAAGCTTA>-	3.37:g.31658422_31658445delTGTCTTTGCATTGCTGCAAGCTTA			31633426	Q96JZ4|Q96KY7	In_Frame_Del	DEL	HMMPfam_STT3	p.VFALLQAY327in_frame_del	ENST00000295770.2	37	c.978_1001	CCDS2650.1	3																																																																																			(deletion:cds_exon[31633425,31633571])	HMMPfam_STT3		0.388	STT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STT3B	protein_coding	OTTHUMT00000253166.2	TGTCTTTGCATTGCTGCAAGCTTA	NM_178862	In_Frame_Del	31633449	+1	no_errors	NM_178862	genbank	human	provisional	54_36p	in_frame_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.944:0.973:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000	-
ZFYVE19	84936	genome.wustl.edu	37	15	41099899	41099900	+	Frame_Shift_Ins	INS	-	-	GGGGC	rs371684343|rs200042011|rs142730574|rs369585041	byFrequency	TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr15:41099899_41099900insGGGGC	ENST00000355341.4	+	1	613_614	c.112_113insGGGGC	c.(112-114)tggfs	p.-40fs	DNAJC17_ENST00000220496.4_5'Flank|ZFYVE19_ENST00000299173.10_Frame_Shift_Ins_p.-40fs|ZFYVE19_ENST00000563530.1_3'UTR|ZFYVE19_ENST00000564258.1_Intron|ZFYVE19_ENST00000336455.5_Intron|ZFYVE19_ENST00000570108.1_Intron	NM_001077268.1	NP_001070736.1	Q96K21	ANCHR_HUMAN	zinc finger, FYVE domain containing 19						abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis checkpoint (GO:0031565)|negative regulation of cytokinesis (GO:0032466)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|midbody (GO:0030496)	phosphatidylinositol-3-phosphate binding (GO:0032266)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		AGTGGGCGTGTGgggcggggca	0.718														1685	0.336462	0.3411	0.3112	5008	,	,		13821	0.2252		0.3777	False		,,,				2504	0.4202															0			15								1226,2460		247,732,864						2.0	0.3		dbSNP_130	17	2598,5206		494,1610,1798	no	frameshift	ZFYVE19	NM_001077268.1		741,2342,2662	A1A1,A1R,RR		33.2906,33.261,33.2811				3824,7666				38887192	SO:0001589	frameshift_variant	84936			AK027746	CCDS42025.1, CCDS58353.1, CCDS58354.1, CCDS58355.1	15q14	2008-05-02				ENSG00000166140		"""Zinc fingers, FYVE domain containing"""	20758	protein-coding gene	gene with protein product							Standard	NM_001077268		Approved	FLJ14840	uc031qrk.1	Q96K21		ENST00000355341.4:c.118_122dupGGGGC	15.37:g.41099905_41099909dupGGGGC	ENSP00000347498:p.Gly40fs		38887191	B3KVB2|C9JNF4|H3BUF9|Q86WC2|Q8WU96	Frame_Shift_Ins	INS	HMMSmart_SM00064,superfamily_FYVE/PHD zinc finger,HMMPfam_FYVE,PatternScan_2FE2S_FER_1	p.A42fs	ENST00000355341.4	37	c.112_113	CCDS42025.1	15																																																																																			-	NULL		0.718	ZFYVE19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFYVE19	protein_coding	OTTHUMT00000418996.1	-	NM_032850		38887192	+1	no_errors	NM_001077268	genbank	human	validated	54_36p	frame_shift_ins	INS	0.027:0.013	GGGGC
TSPAN18	90139	genome.wustl.edu	37	11	44950723	44950742	+	Stop_Codon_Del	DEL	CCAGTAGAGGGTATGGCCTG	CCAGTAGAGGGTATGGCCTG	-	rs369733005|rs140231195		TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	CCAGTAGAGGGTATGGCCTG	CCAGTAGAGGGTATGGCCTG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr11:44950723_44950742delCCAGTAGAGGGTATGGCCTG	ENST00000520358.2	+	0	1156_1175				TSPAN18_ENST00000340160.3_Stop_Codon_Del			Q96SJ8	TSN18_HUMAN	tetraspanin 18							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(6)|lung(3)	10						TCCGGGGCATCCAGTAGAGGGTATGGCCTGAAGCCTGAAG	0.595																																																0			11																																								44907318	SO:0001567	stop_retained_variant	90139			AY358087	CCDS7910.1	11p11.2	2013-02-14				ENSG00000157570		"""Tetraspanins"""	20660	protein-coding gene	gene with protein product						11756464	Standard	NM_130783		Approved	TSPAN	uc001mye.4	Q96SJ8		Exception_encountered	11.37:g.44950723_44950742delCCAGTAGAGGGTATGGCCTG			44907299	Q6UY44|Q8NBI9	Frame_Shift_Del	DEL	HMMPfam_Tetraspannin,PatternScan_TM4_1,superfamily_Tetraspanin	p.I247fs	ENST00000520358.2	37	c.741_747	CCDS7910.1	11																																																																																			(deletion:cds_exon[44907258,44907305], utr_exon[44907306,44909459])	HMMPfam_Tetraspannin		0.595	TSPAN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN18	protein_coding	OTTHUMT00000376197.3	CCAGTAGAGGGTATGGCCTG	NM_130783		44907318	+1	no_errors	NM_130783	genbank	human	provisional	54_36p	frame_shift_del	DEL	1.000:1.000:1.000:1.000:1.000:0.995:0.776	-
NCOA3	8202	genome.wustl.edu	37	20	46275953	46275977	+	Frame_Shift_Del	DEL	GACAATCACCATCTTTTAACTCTAT	GACAATCACCATCTTTTAACTCTAT	-	rs148268636|rs141376506		TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	GACAATCACCATCTTTTAACTCTAT	GACAATCACCATCTTTTAACTCTAT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr20:46275953_46275977delGACAATCACCATCTTTTAACTCTAT	ENST00000371998.3	+	18	3580_3604	c.3389_3413delGACAATCACCATCTTTTAACTCTAT	c.(3388-3414)ggacaatcaccatcttttaactctatgfs	p.GQSPSFNSM1130fs	NCOA3_ENST00000341724.6_Frame_Shift_Del_p.GQSPSFNSM1060fs|NCOA3_ENST00000372004.3_Frame_Shift_Del_p.GQSPSFNSM1130fs|NCOA3_ENST00000371997.3_Frame_Shift_Del_p.GQSPSFNSM1125fs			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1130	Acetyltransferase.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CATCTTCAGGGACAATCACCATCTTTTAACTCTATGATGAATCAG	0.484																																																0			20																																								45709384	SO:0001589	frameshift_variant	8202			AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3389_3413delGACAATCACCATCTTTTAACTCTAT	20.37:g.46275953_46275977delGACAATCACCATCTTTTAACTCTAT	ENSP00000361066:p.Gly1130fs		45709360	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Frame_Shift_Del	DEL	superfamily_HLH helix-loop-helix DNA-binding domain,HMMPfam_HLH,HMMSmart_SM00353,HMMPfam_PAS,HMMSmart_SM00091,superfamily_PYP-like sensor domain (PAS domain),HMMPfam_SRC-1,superfamily_Nuclear receptor coactivator interlocking domain,HMMPfam_Nuc_rec_co-act,HMMPfam_DUF1518	p.Q1131fs	ENST00000371998.3	37	c.3389_3413	CCDS13407.1	20																																																																																			(deletion:cds_exon[45709224,45709517])	NULL		0.484	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA3	protein_coding	OTTHUMT00000080405.1	GACAATCACCATCTTTTAACTCTAT	NM_006534		45709384	+1	no_errors	NM_181659	genbank	human	reviewed	54_36p	frame_shift_del	DEL	1.000:1.000:1.000:1.000:0.985:0.975:0.930:0.813:0.785:0.692:0.665:0.688:0.693:0.619:1.000:1.000:1.000:1.000:1.000:0.985:0.986:0.984:0.089:0.811:0.999	-
SERPINB10	5273	genome.wustl.edu	37	18	61582734	61582735	+	Splice_Site	INS	-	-	G			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr18:61582734_61582735insG	ENST00000238508.3	+	2	50		c.e2-1			NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				TATTTTTCTTAGGTTTCCTCAA	0.322																																																0			18																																								59733715	SO:0001630	splice_region_variant	5273			U35459	CCDS11990.1	18q21.3	2014-02-18	2005-08-18		ENSG00000242550	ENSG00000242550		"""Serine (or cysteine) peptidase inhibitors"""	8942	protein-coding gene	gene with protein product	"""protease inhibitor 10 (ovalbumin type, bomapin)"""	602058	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10"""	PI10		9268635, 10871600, 24172014	Standard	NM_005024		Approved	bomapin		P48595	OTTHUMG00000060594	ENST00000238508.3:c.-9-1->G	18.37:g.61582736_61582736dupG			59733714	Q4VAX4|Q4VAX7	Splice_Site	INS	-	e1-1	ENST00000238508.3	37	c.1-2_1	CCDS11990.1	18																																																																																			-	-		0.322	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB10	protein_coding	OTTHUMT00000134012.3	-	NM_005024	Intron	59733715	+1	no_errors	ENST00000397996	ensembl	human	known	54_36p	splice_site_ins	INS	0.318:0.323	G
CALB2	794	genome.wustl.edu	37	16	71423753	71423776	+	Stop_Codon_Del	DEL	CGAGCCCCCCATGTAAAGTGGGGA	CGAGCCCCCCATGTAAAGTGGGGA	-	rs143855539|rs367551104|rs370211423	byFrequency	TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	CGAGCCCCCCATGTAAAGTGGGGA	CGAGCCCCCCATGTAAAGTGGGGA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr16:71423753_71423776delCGAGCCCCCCATGTAAAGTGGGGA	ENST00000302628.4	+	0	878_901				CALB2_ENST00000349553.5_3'UTR	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2						cytosolic calcium ion homeostasis (GO:0051480)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.E268K(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				TGCTCTGCAGCGAGCCCCCCATGTAAAGTGGGGACGGGGGCTGC	0.594																																																1	Substitution - Missense(1)	skin(1)	16																																								69981277	SO:0001567	stop_retained_variant	794			X56667	CCDS10899.1	16q22.2	2013-01-10	2008-05-19		ENSG00000172137	ENSG00000172137		"""EF-hand domain containing"""	1435	protein-coding gene	gene with protein product	"""calretinin"""	114051	"""calbindin 2, 29kDa (calretinin)"""			1906795	Standard	NM_001740		Approved	CAL2	uc002faa.4	P22676	OTTHUMG00000137589	Exception_encountered	16.37:g.71423753_71423776delCGAGCCCCCCATGTAAAGTGGGGA	ENSP00000307508:p.*272Tyrext*20		69981254	A8K4Y1|Q53HD2|Q96BK4	Frame_Shift_Del	DEL	superfamily_SSF47473,HMMSmart_EFh,HMMPfam_efhand,PatternScan_EF_HAND_1	p.S267fs	ENST00000302628.4	37	c.801_816	CCDS10899.1	16																																																																																			(deletion:cds_exon[69981153,69981269], utr_exon[69981270,69981842])	NULL		0.594	CALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALB2	protein_coding	OTTHUMT00000268988.1	CGAGCCCCCCATGTAAAGTGGGGA	NM_001740		69981277	+1	no_errors	NM_001740	genbank	human	reviewed	54_36p	frame_shift_del	DEL	0.949:0.999:1.000:1.000:1.000:1.000:1.000:0.993:0.954:0.643:0.617:0.976:0.997:0.998:0.994:0.975	-
UBR7	55148	genome.wustl.edu	37	14	93681590	93681620	+	Frame_Shift_Del	DEL	TTGTTCTTTTTTGTGGGCTTATGCTGCACAA	TTGTTCTTTTTTGTGGGCTTATGCTGCACAA	-	rs371330936|rs141676205		TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	TTGTTCTTTTTTGTGGGCTTATGCTGCACAA	TTGTTCTTTTTTGTGGGCTTATGCTGCACAA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr14:93681590_93681620delTTGTTCTTTTTTGTGGGCTTATGCTGCACAA	ENST00000013070.6	+	6	800_830	c.564_594delTTGTTCTTTTTTGTGGGCTTATGCTGCACAA	c.(562-594)cgttgttcttttttgtgggcttatgctgcacaafs	p.RCSFLWAYAAQ188fs	UBR7_ENST00000416753.1_Frame_Shift_Del_p.RCSFLWAYAAQ112fs|RP11-371E8.4_ENST00000557048.1_3'UTR	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin 7 (putative)	188							ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						GCATGAAACGTTGTTCTTTTTTGTGGGCTTATGCTGCACAATTGGCAGGTA	0.407																																																0			14																																								92751373	SO:0001589	frameshift_variant	55148			AK001345	CCDS9909.1	14q32.12	2008-06-23	2008-06-23	2008-06-23		ENSG00000012963		"""Ubiquitin protein ligase E3 component n-recognins"""	20344	protein-coding gene	gene with protein product		613816	"""chromosome 14 open reading frame 130"""	C14orf130		18162545	Standard	NM_175748		Approved		uc001ybm.4	Q8N806		ENST00000013070.6:c.564_594delTTGTTCTTTTTTGTGGGCTTATGCTGCACAA	14.37:g.93681590_93681620delTTGTTCTTTTTTGTGGGCTTATGCTGCACAA	ENSP00000013070:p.Arg188fs		92751343	Q86U21|Q86UA9|Q96BY0|Q9NVV6	Frame_Shift_Del	DEL	PatternScan_ZF_PHD_1,HMMPfam_zf-UBR,HMMPfam_PHD,HMMSmart_PHD	p.C189fs	ENST00000013070.6	37	c.564_594	CCDS9909.1	14																																																																																			(deletion:cds_exon[92751275,92751380])	NULL		0.407	UBR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR7	protein_coding	OTTHUMT00000412693.1	TTGTTCTTTTTTGTGGGCTTATGCTGCACAA	NM_175748		92751373	+1	no_errors	NM_175748	genbank	human	validated	54_36p	frame_shift_del	DEL	0.883:0.963:0.969:0.887:0.893:0.901:0.776:0.993:1.000:1.000:0.998:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.994:1.000:1.000:1.000:1.000:1.000:0.995:0.998:1.000:0.994:0.998:0.991:0.007	-
USP30	84749	genome.wustl.edu	37	12	109490426	109490427	+	5'UTR	INS	-	-	CGGCGG	rs71079516|rs3217401|rs140371213	byFrequency	TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr12:109490426_109490427insCGGCGG	ENST00000257548.5	+	0	36_37				USP30-AS1_ENST00000478808.2_RNA|USP30_ENST00000392784.2_Intron	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30						mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						ATCCCTCGGTCcggcggcggcg	0.728														2378	0.47484	0.177	0.6398	5008	,	,		14910	0.6944		0.5199	False		,,,				2504	0.4877															0			12																																								107974810	SO:0001623	5_prime_UTR_variant	0			BC022094	CCDS9123.2	12q23.3	2006-01-20	2005-08-08		ENSG00000135093	ENSG00000135093		"""Ubiquitin-specific peptidases"""	20065	protein-coding gene	gene with protein product		612492	"""ubiquitin specific protease 30"""			12838346	Standard	XM_005253962		Approved	MGC10702, FLJ40511	uc010sxi.2	Q70CQ3	OTTHUMG00000133613	ENST00000257548.5:c.-57->CGGCGG	12.37:g.109490427_109490432dupCGGCGG			107974809	Q8WTU7|Q96JX4|Q9BSS3	In_Frame_Ins	INS	NULL	p.63in_frame_insPP	ENST00000257548.5	37	c.190_189	CCDS9123.2	12																																																																																			-	NULL		0.728	USP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100131733	protein_coding	OTTHUMT00000257733.2	-	NM_032663		107974810	-1	no_errors	XM_001722340	genbank	human	model	54_36p	in_frame_ins	INS	0.000:0.000	CGGCGG
GRIA2	2891	genome.wustl.edu	37	4	158282742	158282742	+	Intron	DEL	A	A	-			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr4:158282742delA	ENST00000264426.9	+	14	2685				GRIA2_ENST00000296526.7_Frame_Shift_Del_p.K782fs|GRIA2_ENST00000507898.1_Frame_Shift_Del_p.K735fs|AC079233.1_ENST00000578227.1_RNA|GRIA2_ENST00000449365.1_Frame_Shift_Del_p.K735fs|GRIA2_ENST00000393815.2_Frame_Shift_Del_p.K735fs	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2						ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	CGTCTTAGACAAGCTGAAAAA	0.368																																																0			4											147.0	134.0	138.0					4																	158282742		2203	4300	6503	158502192	SO:0001627	intron_variant	2891				CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.2406+466A>-	4.37:g.158282742delA			158502192	A8MT92|I6L997|Q96FP6	Frame_Shift_Del	DEL	superfamily_SSF53822,HMMPfam_ANF_receptor,superfamily_SSF53850,HMMSmart_PBPe,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan	p.K782fs	ENST00000264426.9	37	c.2344	CCDS43274.1	4																																																																																			(deletion:cds_exon[158502140,158502254])	superfamily_SSF53850,HMMSmart_PBPe,HMMPfam_Lig_chan		0.368	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA2	protein_coding	OTTHUMT00000258367.2	A			158502192	+1	no_errors	NM_000826	genbank	human	reviewed	54_36p	frame_shift_del	DEL	1.000	-
FCRLA	84824	genome.wustl.edu	37	1	161681147	161681154	+	Frame_Shift_Del	DEL	TTCTCCAT	TTCTCCAT	-	rs564868949		TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	TTCTCCAT	TTCTCCAT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr1:161681147_161681154delTTCTCCAT	ENST00000236938.6	+	3	675_682	c.433_440delTTCTCCAT	c.(433-441)ttctccatcfs	p.FSI145fs	FCRLA_ENST00000367959.2_Frame_Shift_Del_p.FSI151fs|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000546024.1_Intron|FCRLA_ENST00000367953.3_Frame_Shift_Del_p.FSI134fs|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000540926.1_Frame_Shift_Del_p.FSI134fs|FCRLA_ENST00000349527.4_Frame_Shift_Del_p.FSI128fs|FCRLA_ENST00000309691.6_Intron|FCRLA_ENST00000367957.2_Intron	NM_032738.3	NP_116127.3	Q7L513	FCRLA_HUMAN	Fc receptor-like A	128	Ig-like C2-type 1.				cell differentiation (GO:0030154)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			TAACAGGGAATTCTCCATCACCGTGGTA	0.596																																																0			1																																								159947778	SO:0001589	frameshift_variant	84824			AF531423	CCDS30926.1, CCDS53415.1, CCDS53416.1, CCDS53417.1, CCDS53418.1, CCDS53419.1, CCDS53420.1	1q23.3	2014-01-28	2006-09-26	2006-09-26	ENSG00000132185	ENSG00000132185		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18504	protein-coding gene	gene with protein product		606891	"""Fc receptor-like and mucin-like 1"""	FCRLM1		11754007	Standard	NM_001184866		Approved	MGC4595, FCRLc2, FCRLb, FCRLc1, FCRLd, FCRLe, FCRL, FCRLa, FREB, FCRLX	uc001gbe.3	Q7L513	OTTHUMG00000034537	ENST00000236938.6:c.433_440delTTCTCCAT	1.37:g.161681147_161681154delTTCTCCAT	ENSP00000236938:p.Phe145fs		159947771	A0N0M1|A6NC03|A6NL20|F5H720|F8W743|G3V1J2|Q5VXA1|Q5VXA2|Q5VXA3|Q5VXA4|Q5VXB0|Q5VXB1|Q8NEW4|Q8WXH3|Q96PC6|Q96PJ0|Q96PJ1|Q96PJ2|Q96PJ4|Q9BR57	Frame_Shift_Del	DEL	superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig	p.F145fs	ENST00000236938.6	37	c.433_440	CCDS30926.1	1																																																																																			(deletion:cds_exon[159947622,159947888])	superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig		0.596	FCRLA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FCRLA	protein_coding	OTTHUMT00000083574.1	TTCTCCAT	NM_032738		159947778	+1	no_errors	NM_032738	genbank	human	validated	54_36p	frame_shift_del	DEL	0.037:0.084:0.087:0.080:0.076:0.058:0.044:0.008	-
EDARADD	128178	genome.wustl.edu	37	1	236646779	236646794	+	IGR	DEL	ATTTGGTGCAAATGCC	ATTTGGTGCAAATGCC	-			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	ATTTGGTGCAAATGCC	ATTTGGTGCAAATGCC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr1:236646779_236646794delATTTGGTGCAAATGCC	ENST00000334232.4	+	0	858				EDARADD_ENST00000359362.5_3'UTR	NM_145861.2	NP_665860.2	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain						cell differentiation (GO:0030154)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)|trachea gland development (GO:0061153)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ATAAATCTAAATTTGGTGCAAATGCCATTCTGGGAG	0.463																																																0			1																																								234713417	SO:0001628	intergenic_variant	0			AY028914	CCDS1610.1, CCDS31065.1	1q42.3	2013-05-22			ENSG00000186197	ENSG00000186197			14341	protein-coding gene	gene with protein product		606603				11780064	Standard	NM_145861		Approved		uc001hxu.1	Q8WWZ3	OTTHUMG00000039954		1.37:g.236646779_236646794delATTTGGTGCAAATGCC			234713402	A2VCK5|A8K7B5|B1AL54|B9ZVW5|Q5VYJ7	Frame_Shift_Del	DEL	HMMPfam_Enolase_N,superfamily_SSF54826,superfamily_SSF51604,HMMPfam_Enolase_C	p.G107fs	ENST00000334232.4	37	c.315_330	CCDS1610.1	1																																																																																			(deletion:cds_exon[234713088,234714254])	HMMPfam_Enolase_N,superfamily_SSF54826		0.463	EDARADD-001	KNOWN	basic|CCDS	protein_coding	ENSG00000215809	protein_coding	OTTHUMT00000096368.1	ATTTGGTGCAAATGCC	NM_145861		234713417	+1	no_errors	ENST00000359362	ensembl	human	known	54_36p	frame_shift_del	DEL	0.993:1.000:1.000:1.000:1.000:1.000:0.963:0.963:0.817:0.454:0.991:0.999:0.997:1.000:1.000:1.000	-
